Incidental Mutation 'R4732:Itpr2'
ID |
359065 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itpr2
|
Ensembl Gene |
ENSMUSG00000030287 |
Gene Name |
inositol 1,4,5-triphosphate receptor 2 |
Synonyms |
Ip3r2, Itpr5 |
MMRRC Submission |
042022-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4732 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
146009797-146403721 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 146274671 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 837
(F837S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049584
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053273]
[ENSMUST00000079573]
[ENSMUST00000131890]
[ENSMUST00000139732]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053273
AA Change: F837S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000049584 Gene: ENSMUSG00000030287 AA Change: F837S
Domain | Start | End | E-Value | Type |
low complexity region
|
68 |
80 |
N/A |
INTRINSIC |
MIR
|
112 |
166 |
1.1e-5 |
SMART |
MIR
|
173 |
223 |
8.9e-6 |
SMART |
MIR
|
231 |
287 |
5.11e-6 |
SMART |
MIR
|
294 |
402 |
3.73e-8 |
SMART |
Pfam:RYDR_ITPR
|
473 |
670 |
1.5e-62 |
PFAM |
low complexity region
|
882 |
890 |
N/A |
INTRINSIC |
Pfam:RYDR_ITPR
|
1183 |
1346 |
1.6e-16 |
PFAM |
low complexity region
|
1773 |
1785 |
N/A |
INTRINSIC |
low complexity region
|
1897 |
1908 |
N/A |
INTRINSIC |
Pfam:RIH_assoc
|
1912 |
2022 |
4.6e-34 |
PFAM |
low complexity region
|
2088 |
2098 |
N/A |
INTRINSIC |
transmembrane domain
|
2228 |
2250 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
2260 |
2552 |
5.1e-20 |
PFAM |
coiled coil region
|
2631 |
2686 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079573
AA Change: F804S
PolyPhen 2
Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000078526 Gene: ENSMUSG00000030287 AA Change: F804S
Domain | Start | End | E-Value | Type |
low complexity region
|
68 |
80 |
N/A |
INTRINSIC |
MIR
|
112 |
166 |
1.1e-5 |
SMART |
MIR
|
198 |
254 |
5.11e-6 |
SMART |
MIR
|
261 |
369 |
3.73e-8 |
SMART |
Pfam:RYDR_ITPR
|
438 |
644 |
5.4e-75 |
PFAM |
low complexity region
|
849 |
857 |
N/A |
INTRINSIC |
Pfam:RYDR_ITPR
|
1148 |
1322 |
7.2e-60 |
PFAM |
low complexity region
|
1740 |
1752 |
N/A |
INTRINSIC |
Pfam:RIH_assoc
|
1875 |
1994 |
5.8e-35 |
PFAM |
low complexity region
|
2055 |
2065 |
N/A |
INTRINSIC |
transmembrane domain
|
2195 |
2217 |
N/A |
INTRINSIC |
transmembrane domain
|
2230 |
2249 |
N/A |
INTRINSIC |
low complexity region
|
2268 |
2279 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
2281 |
2507 |
2.4e-12 |
PFAM |
coiled coil region
|
2598 |
2653 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000131890
AA Change: F479S
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000121773 Gene: ENSMUSG00000030287 AA Change: F479S
Domain | Start | End | E-Value | Type |
Pfam:MIR
|
1 |
74 |
4.8e-22 |
PFAM |
Pfam:RYDR_ITPR
|
113 |
319 |
1.9e-76 |
PFAM |
low complexity region
|
524 |
532 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139732
|
SMART Domains |
Protein: ENSMUSP00000119110 Gene: ENSMUSG00000030287
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
33 |
N/A |
INTRINSIC |
MIR
|
65 |
119 |
1.1e-5 |
SMART |
MIR
|
126 |
176 |
8.9e-6 |
SMART |
MIR
|
184 |
240 |
5.11e-6 |
SMART |
MIR
|
247 |
355 |
3.73e-8 |
SMART |
Pfam:RYDR_ITPR
|
424 |
630 |
3e-76 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204247
|
Meta Mutation Damage Score |
0.5869 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
99% (110/111) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the inositol 1,4,5-triphosphate receptor family, whose members are second messenger intracellular calcium release channels. These proteins mediate a rise in cytoplasmic calcium in response to receptor activated production of inositol triphosphate. Inositol triphosphate receptor-mediated signaling is involved in many processes including cell migration, cell division, smooth muscle contraction, and neuronal signaling. This protein is a type 2 receptor that consists of a cytoplasmic amino-terminus that binds inositol triphosphate, six membrane-spanning helices that contribute to the ion pore, and a short cytoplasmic carboxy-terminus. A mutation in this gene has been associated with anhidrosis, suggesting that intracellular calcium release mediated by this protein is required for eccrine sweat production. [provided by RefSeq, Apr 2015] PHENOTYPE: Homozygotes for a knock-out allele are viable and fertile but show decreased sweating and disturbed calcium signaling in sweat glands. Mice homozygous for a different knock-out allele have atrial myocytes that are significantly less prone to develop proarrhythmic disturbances in calcium signaling. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 192 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700128F08Rik |
T |
A |
9: 8,222,174 (GRCm39) |
|
noncoding transcript |
Het |
4933409G03Rik |
A |
G |
2: 68,445,065 (GRCm39) |
|
probably benign |
Het |
Acan |
T |
C |
7: 78,748,357 (GRCm39) |
S1043P |
probably damaging |
Het |
Ackr2 |
A |
G |
9: 121,738,249 (GRCm39) |
Y208C |
probably damaging |
Het |
Actg1 |
C |
T |
11: 120,238,305 (GRCm39) |
|
probably benign |
Het |
Actmap |
T |
A |
7: 26,900,468 (GRCm39) |
M149K |
probably damaging |
Het |
Adam1a |
T |
A |
5: 121,657,497 (GRCm39) |
T599S |
probably benign |
Het |
Adamts12 |
A |
T |
15: 11,270,748 (GRCm39) |
S668C |
probably damaging |
Het |
Adcy8 |
A |
G |
15: 64,626,711 (GRCm39) |
V709A |
possibly damaging |
Het |
Adgrf2 |
A |
C |
17: 43,021,645 (GRCm39) |
I393S |
probably damaging |
Het |
Ahnak |
G |
T |
19: 8,984,665 (GRCm39) |
G1983V |
probably damaging |
Het |
Aim2 |
T |
A |
1: 173,291,442 (GRCm39) |
D282E |
possibly damaging |
Het |
Ak8 |
A |
G |
2: 28,650,083 (GRCm39) |
Y370C |
probably damaging |
Het |
Akap9 |
A |
G |
5: 4,063,901 (GRCm39) |
D1750G |
probably damaging |
Het |
Als2cl |
T |
A |
9: 110,718,204 (GRCm39) |
V315E |
probably damaging |
Het |
Ankrd28 |
A |
C |
14: 31,477,698 (GRCm39) |
C115G |
probably benign |
Het |
Ap3b2 |
C |
T |
7: 81,121,680 (GRCm39) |
A519T |
probably damaging |
Het |
Apool |
C |
T |
X: 111,281,897 (GRCm39) |
T166I |
probably damaging |
Het |
Arhgef2 |
A |
T |
3: 88,539,247 (GRCm39) |
K65* |
probably null |
Het |
Arhgef38 |
G |
T |
3: 132,838,030 (GRCm39) |
Y633* |
probably null |
Het |
Asah2 |
T |
C |
19: 31,972,758 (GRCm39) |
N659S |
probably benign |
Het |
Atf7ip2 |
A |
G |
16: 10,059,750 (GRCm39) |
D430G |
possibly damaging |
Het |
Atp8a1 |
G |
A |
5: 67,970,463 (GRCm39) |
S92L |
probably benign |
Het |
Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
C130073F10Rik |
C |
A |
4: 101,747,907 (GRCm39) |
S89I |
probably benign |
Het |
Cacna1g |
T |
C |
11: 94,334,041 (GRCm39) |
T867A |
probably damaging |
Het |
Ccdc88a |
T |
G |
11: 29,435,906 (GRCm39) |
N1276K |
probably benign |
Het |
Cdc42bpg |
T |
A |
19: 6,361,221 (GRCm39) |
V282E |
probably damaging |
Het |
Cdipt |
T |
A |
7: 126,577,530 (GRCm39) |
L92H |
probably damaging |
Het |
Celsr2 |
T |
A |
3: 108,306,268 (GRCm39) |
D2012V |
probably damaging |
Het |
Cenpt |
A |
G |
8: 106,573,768 (GRCm39) |
V254A |
probably benign |
Het |
Cep104 |
T |
A |
4: 154,072,883 (GRCm39) |
D380E |
probably damaging |
Het |
Cers5 |
C |
T |
15: 99,639,518 (GRCm39) |
R123Q |
probably benign |
Het |
Ces2h |
A |
G |
8: 105,741,236 (GRCm39) |
E76G |
probably damaging |
Het |
Cfap77 |
T |
A |
2: 28,874,400 (GRCm39) |
E143D |
probably benign |
Het |
Chmp7 |
C |
A |
14: 69,969,745 (GRCm39) |
R65L |
probably damaging |
Het |
Cldnd2 |
T |
A |
7: 43,091,613 (GRCm39) |
C65S |
possibly damaging |
Het |
Clec2g |
C |
A |
6: 128,958,842 (GRCm39) |
Y142* |
probably null |
Het |
Coch |
A |
T |
12: 51,651,802 (GRCm39) |
E549V |
probably benign |
Het |
Cog7 |
T |
C |
7: 121,563,467 (GRCm39) |
D215G |
probably benign |
Het |
Col4a2 |
T |
C |
8: 11,464,779 (GRCm39) |
V348A |
probably benign |
Het |
Col4a2 |
A |
G |
8: 11,496,197 (GRCm39) |
H1606R |
probably benign |
Het |
Cpd |
T |
C |
11: 76,702,620 (GRCm39) |
N583D |
probably damaging |
Het |
Cyp2d11 |
T |
A |
15: 82,273,428 (GRCm39) |
Y481F |
probably benign |
Het |
D130043K22Rik |
T |
C |
13: 25,083,648 (GRCm39) |
S1038P |
probably damaging |
Het |
Deptor |
C |
A |
15: 55,044,406 (GRCm39) |
H191N |
probably benign |
Het |
Dgkz |
A |
T |
2: 91,768,684 (GRCm39) |
I699N |
probably damaging |
Het |
Dnah12 |
C |
T |
14: 26,503,741 (GRCm39) |
T1653I |
probably damaging |
Het |
Dnah7c |
T |
A |
1: 46,809,333 (GRCm39) |
N3550K |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 30,994,035 (GRCm39) |
K3384R |
probably null |
Het |
Dnajc11 |
A |
G |
4: 152,055,424 (GRCm39) |
|
probably benign |
Het |
Dnajc13 |
CT |
C |
9: 104,064,004 (GRCm39) |
|
probably benign |
Het |
Dnhd1 |
C |
A |
7: 105,323,056 (GRCm39) |
N521K |
probably benign |
Het |
Drg2 |
T |
C |
11: 60,352,222 (GRCm39) |
|
probably null |
Het |
Dync1h1 |
C |
T |
12: 110,615,941 (GRCm39) |
Q3030* |
probably null |
Het |
Efhb |
G |
A |
17: 53,733,272 (GRCm39) |
T533I |
probably damaging |
Het |
Eif2d |
T |
C |
1: 131,092,464 (GRCm39) |
V374A |
probably damaging |
Het |
Etfb |
T |
C |
7: 43,093,624 (GRCm39) |
V17A |
probably damaging |
Het |
F5 |
C |
T |
1: 164,009,226 (GRCm39) |
T332M |
probably damaging |
Het |
Fcho1 |
T |
C |
8: 72,169,439 (GRCm39) |
T156A |
probably benign |
Het |
Fn1 |
A |
T |
1: 71,641,671 (GRCm39) |
|
probably null |
Het |
Fnip2 |
A |
T |
3: 79,388,959 (GRCm39) |
S561T |
probably damaging |
Het |
Frs2 |
T |
A |
10: 116,909,998 (GRCm39) |
T455S |
probably benign |
Het |
Fry |
G |
A |
5: 150,309,472 (GRCm39) |
E639K |
|
Het |
Fto |
T |
A |
8: 92,136,342 (GRCm39) |
D205E |
probably damaging |
Het |
Galnt2l |
A |
G |
8: 122,997,013 (GRCm39) |
|
probably benign |
Het |
Galntl6 |
G |
A |
8: 58,880,847 (GRCm39) |
P147L |
probably damaging |
Het |
Gigyf1 |
T |
A |
5: 137,523,032 (GRCm39) |
D844E |
probably benign |
Het |
Gle1 |
T |
C |
2: 29,830,244 (GRCm39) |
S267P |
probably damaging |
Het |
Glg1 |
G |
A |
8: 111,914,387 (GRCm39) |
R466W |
probably damaging |
Het |
Gm10277 |
T |
C |
11: 77,676,923 (GRCm39) |
|
probably benign |
Het |
Gm6871 |
T |
C |
7: 41,196,173 (GRCm39) |
I39V |
probably benign |
Het |
Gm9970 |
A |
G |
5: 31,398,410 (GRCm39) |
|
probably benign |
Het |
Gpr35 |
T |
G |
1: 92,911,107 (GRCm39) |
I57S |
probably damaging |
Het |
Gprin1 |
C |
T |
13: 54,887,770 (GRCm39) |
G168E |
possibly damaging |
Het |
Gtdc1 |
A |
G |
2: 44,679,067 (GRCm39) |
|
probably benign |
Het |
Gtf3c2 |
G |
T |
5: 31,317,401 (GRCm39) |
P586T |
probably damaging |
Het |
Gucy1a2 |
A |
T |
9: 3,759,424 (GRCm39) |
H410L |
probably benign |
Het |
Gucy2c |
A |
G |
6: 136,744,150 (GRCm39) |
S150P |
probably damaging |
Het |
Ifi214 |
T |
C |
1: 173,354,157 (GRCm39) |
Q171R |
probably benign |
Het |
Ifit1bl1 |
T |
C |
19: 34,571,721 (GRCm39) |
I245M |
probably benign |
Het |
Igkv4-50 |
T |
C |
6: 69,677,984 (GRCm39) |
K40R |
probably benign |
Het |
Igkv8-18 |
T |
A |
6: 70,333,280 (GRCm39) |
I74N |
probably damaging |
Het |
Il2ra |
T |
A |
2: 11,681,731 (GRCm39) |
M112K |
probably benign |
Het |
Kbtbd7 |
T |
C |
14: 79,666,240 (GRCm39) |
*691Q |
probably null |
Het |
Kcnn2 |
T |
A |
18: 45,693,416 (GRCm39) |
S331T |
possibly damaging |
Het |
Khnyn |
T |
A |
14: 56,123,946 (GRCm39) |
|
probably null |
Het |
Kif26a |
G |
A |
12: 112,142,007 (GRCm39) |
A754T |
probably benign |
Het |
Klra3 |
T |
A |
6: 130,304,095 (GRCm39) |
Y199F |
possibly damaging |
Het |
Lhx2 |
A |
G |
2: 38,250,003 (GRCm39) |
K274R |
probably damaging |
Het |
Lrp2 |
T |
C |
2: 69,363,899 (GRCm39) |
I313V |
probably benign |
Het |
Lrrfip1 |
A |
T |
1: 91,043,369 (GRCm39) |
E591D |
probably benign |
Het |
Lrrk2 |
G |
A |
15: 91,649,950 (GRCm39) |
E1696K |
probably damaging |
Het |
Lrrk2 |
A |
C |
15: 91,573,052 (GRCm39) |
E200A |
probably damaging |
Het |
Mast4 |
A |
T |
13: 102,909,080 (GRCm39) |
M465K |
probably damaging |
Het |
Moxd2 |
T |
G |
6: 40,855,793 (GRCm39) |
I599L |
probably benign |
Het |
Mug2 |
T |
C |
6: 122,048,831 (GRCm39) |
S866P |
probably damaging |
Het |
Ncam2 |
A |
G |
16: 81,231,772 (GRCm39) |
T79A |
possibly damaging |
Het |
Ncoa6 |
C |
A |
2: 155,263,221 (GRCm39) |
Q404H |
probably damaging |
Het |
Neb |
A |
G |
2: 52,169,091 (GRCm39) |
Y1815H |
probably damaging |
Het |
Nell1 |
A |
G |
7: 50,505,965 (GRCm39) |
D724G |
probably damaging |
Het |
Nkx3-2 |
A |
G |
5: 41,919,487 (GRCm39) |
V167A |
probably benign |
Het |
Nsun3 |
C |
A |
16: 62,555,482 (GRCm39) |
C348F |
possibly damaging |
Het |
Obox6 |
A |
T |
7: 15,568,697 (GRCm39) |
S60T |
possibly damaging |
Het |
Oog2 |
T |
A |
4: 143,920,511 (GRCm39) |
|
probably benign |
Het |
Or10g9b |
A |
T |
9: 39,917,564 (GRCm39) |
I227N |
probably damaging |
Het |
Or11g2 |
T |
A |
14: 50,856,026 (GRCm39) |
C116S |
probably benign |
Het |
Or1ad6 |
G |
A |
11: 50,860,093 (GRCm39) |
V83M |
possibly damaging |
Het |
Or1e16 |
T |
C |
11: 73,286,521 (GRCm39) |
D109G |
probably benign |
Het |
Or2i1 |
T |
C |
17: 37,507,915 (GRCm39) |
T315A |
probably damaging |
Het |
Or2n1e |
T |
A |
17: 38,586,438 (GRCm39) |
Y259N |
probably damaging |
Het |
Or9s18 |
T |
C |
13: 65,300,467 (GRCm39) |
V143A |
possibly damaging |
Het |
Pabpc1 |
A |
T |
15: 36,599,528 (GRCm39) |
V389E |
probably benign |
Het |
Pank4 |
A |
T |
4: 155,055,847 (GRCm39) |
M291L |
probably benign |
Het |
Pcf11 |
T |
C |
7: 92,308,041 (GRCm39) |
D709G |
probably benign |
Het |
Pcgf1 |
T |
A |
6: 83,056,938 (GRCm39) |
|
probably benign |
Het |
Pcnx1 |
A |
G |
12: 82,042,525 (GRCm39) |
I2256V |
probably benign |
Het |
Pex6 |
A |
G |
17: 47,033,214 (GRCm39) |
D579G |
probably benign |
Het |
Pex6 |
A |
G |
17: 47,035,633 (GRCm39) |
|
probably null |
Het |
Piezo2 |
C |
T |
18: 63,163,472 (GRCm39) |
A2149T |
probably damaging |
Het |
Pik3c2g |
A |
G |
6: 139,881,711 (GRCm39) |
E781G |
probably benign |
Het |
Pik3r4 |
G |
A |
9: 105,555,375 (GRCm39) |
V1111I |
possibly damaging |
Het |
Pkd1l2 |
T |
A |
8: 117,722,581 (GRCm39) |
|
probably null |
Het |
Plekhg1 |
T |
A |
10: 3,907,506 (GRCm39) |
S808T |
probably benign |
Het |
Pnkp |
T |
A |
7: 44,509,878 (GRCm39) |
|
probably benign |
Het |
Polr3c |
A |
T |
3: 96,630,977 (GRCm39) |
F148I |
probably damaging |
Het |
Ppard |
A |
T |
17: 28,505,417 (GRCm39) |
T35S |
probably benign |
Het |
Ptov1 |
T |
C |
7: 44,516,533 (GRCm39) |
D134G |
probably benign |
Het |
Ptprz1 |
T |
A |
6: 23,002,609 (GRCm39) |
S1566R |
probably benign |
Het |
Pum1 |
T |
C |
4: 130,445,504 (GRCm39) |
S158P |
probably benign |
Het |
Qki |
T |
C |
17: 10,435,217 (GRCm39) |
H269R |
probably damaging |
Het |
Qrsl1 |
T |
C |
10: 43,752,659 (GRCm39) |
Y388C |
probably damaging |
Het |
Rapgef1 |
T |
G |
2: 29,579,172 (GRCm39) |
I182S |
probably damaging |
Het |
Ret |
T |
C |
6: 118,140,154 (GRCm39) |
S1013G |
possibly damaging |
Het |
Rimbp3 |
A |
G |
16: 17,028,465 (GRCm39) |
R630G |
possibly damaging |
Het |
Rnmt |
A |
T |
18: 68,451,031 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
A |
T |
13: 11,592,795 (GRCm39) |
M4653K |
possibly damaging |
Het |
Sacm1l |
G |
A |
9: 123,419,895 (GRCm39) |
V553I |
probably benign |
Het |
Sec31b |
A |
T |
19: 44,521,116 (GRCm39) |
S110T |
probably damaging |
Het |
Serpina3k |
G |
A |
12: 104,307,119 (GRCm39) |
G117D |
probably damaging |
Het |
Sesn2 |
T |
C |
4: 132,221,902 (GRCm39) |
Y410C |
probably damaging |
Het |
Slc24a1 |
G |
A |
9: 64,856,836 (GRCm39) |
R24C |
probably benign |
Het |
Slc35g2 |
A |
C |
9: 100,434,555 (GRCm39) |
V372G |
probably benign |
Het |
Slc7a7 |
T |
C |
14: 54,646,190 (GRCm39) |
Y91C |
probably damaging |
Het |
Slc7a9 |
T |
A |
7: 35,152,988 (GRCm39) |
Y135* |
probably null |
Het |
Slco1a7 |
A |
T |
6: 141,668,905 (GRCm39) |
M509K |
probably benign |
Het |
Slco4a1 |
A |
G |
2: 180,115,408 (GRCm39) |
N662D |
probably damaging |
Het |
Slfn4 |
T |
A |
11: 83,080,108 (GRCm39) |
|
probably benign |
Het |
Slmap |
T |
C |
14: 26,189,690 (GRCm39) |
N156S |
probably damaging |
Het |
Smim29 |
A |
G |
17: 27,784,244 (GRCm39) |
|
probably benign |
Het |
Snx18 |
A |
G |
13: 113,754,310 (GRCm39) |
S208P |
probably benign |
Het |
Sorbs1 |
T |
A |
19: 40,303,133 (GRCm39) |
R485S |
probably benign |
Het |
Spib |
A |
G |
7: 44,178,309 (GRCm39) |
S154P |
probably damaging |
Het |
Spty2d1 |
T |
C |
7: 46,645,858 (GRCm39) |
D595G |
probably damaging |
Het |
St7 |
T |
A |
6: 17,906,515 (GRCm39) |
|
probably null |
Het |
Susd1 |
T |
C |
4: 59,428,029 (GRCm39) |
T52A |
possibly damaging |
Het |
Svs5 |
T |
A |
2: 164,079,043 (GRCm39) |
D288V |
possibly damaging |
Het |
Syt7 |
T |
A |
19: 10,420,288 (GRCm39) |
I355N |
probably damaging |
Het |
Tarm1 |
G |
A |
7: 3,545,416 (GRCm39) |
Q145* |
probably null |
Het |
Teddm2 |
T |
A |
1: 153,726,487 (GRCm39) |
E76V |
probably damaging |
Het |
Thsd7b |
T |
C |
1: 129,540,923 (GRCm39) |
S343P |
probably damaging |
Het |
Tigd2 |
T |
A |
6: 59,188,400 (GRCm39) |
H422Q |
probably benign |
Het |
Tle1 |
T |
C |
4: 72,043,256 (GRCm39) |
N538D |
possibly damaging |
Het |
Tmc2 |
A |
G |
2: 130,103,317 (GRCm39) |
|
probably null |
Het |
Tmtc1 |
A |
C |
6: 148,186,478 (GRCm39) |
|
probably null |
Het |
Tns3 |
C |
T |
11: 8,400,986 (GRCm39) |
R1104H |
probably benign |
Het |
Trim6 |
T |
C |
7: 103,881,855 (GRCm39) |
Y369H |
probably damaging |
Het |
Triobp |
G |
A |
15: 78,851,313 (GRCm39) |
R489K |
probably damaging |
Het |
Trpv4 |
T |
C |
5: 114,760,814 (GRCm39) |
D732G |
possibly damaging |
Het |
Trrap |
G |
A |
5: 144,753,380 (GRCm39) |
V1883I |
probably damaging |
Het |
Tsc2 |
C |
A |
17: 24,822,249 (GRCm39) |
V1141F |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,730,171 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
T |
2: 76,773,355 (GRCm39) |
M2395K |
unknown |
Het |
Tyrp1 |
A |
T |
4: 80,763,172 (GRCm39) |
D353V |
possibly damaging |
Het |
Ubd |
A |
C |
17: 37,506,593 (GRCm39) |
T160P |
probably benign |
Het |
Ugt2b36 |
G |
T |
5: 87,229,397 (GRCm39) |
Y156* |
probably null |
Het |
Ulk4 |
G |
A |
9: 121,092,704 (GRCm39) |
R178* |
probably null |
Het |
Unc13d |
A |
G |
11: 115,964,408 (GRCm39) |
V312A |
possibly damaging |
Het |
Urb2 |
G |
T |
8: 124,755,636 (GRCm39) |
A448S |
probably damaging |
Het |
Urod |
G |
A |
4: 116,848,870 (GRCm39) |
A92V |
possibly damaging |
Het |
Vmn1r33 |
T |
A |
6: 66,588,803 (GRCm39) |
R250S |
probably benign |
Het |
Vmn1r87 |
A |
T |
7: 12,866,254 (GRCm39) |
M11K |
possibly damaging |
Het |
Vmn2r77 |
C |
T |
7: 86,450,195 (GRCm39) |
T147I |
probably benign |
Het |
Vstm4 |
A |
G |
14: 32,639,859 (GRCm39) |
K96E |
possibly damaging |
Het |
Vxn |
T |
C |
1: 9,677,201 (GRCm39) |
S24P |
probably benign |
Het |
Washc4 |
A |
T |
10: 83,410,343 (GRCm39) |
M644L |
probably benign |
Het |
Wwp1 |
T |
C |
4: 19,661,990 (GRCm39) |
D172G |
probably benign |
Het |
Zbtb38 |
A |
T |
9: 96,569,737 (GRCm39) |
V449E |
probably damaging |
Het |
Zfhx4 |
T |
C |
3: 5,279,867 (GRCm39) |
|
probably benign |
Het |
Zfp229 |
C |
T |
17: 21,964,267 (GRCm39) |
H166Y |
possibly damaging |
Het |
Zfp512b |
A |
G |
2: 181,230,532 (GRCm39) |
S453P |
probably benign |
Het |
Zp2 |
C |
A |
7: 119,737,343 (GRCm39) |
V282L |
probably damaging |
Het |
|
Other mutations in Itpr2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00087:Itpr2
|
APN |
6 |
146,298,510 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00163:Itpr2
|
APN |
6 |
146,292,334 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL00229:Itpr2
|
APN |
6 |
146,045,683 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00712:Itpr2
|
APN |
6 |
146,133,934 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL00952:Itpr2
|
APN |
6 |
146,060,459 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00983:Itpr2
|
APN |
6 |
146,212,479 (GRCm39) |
splice site |
probably benign |
|
IGL01012:Itpr2
|
APN |
6 |
146,246,659 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01289:Itpr2
|
APN |
6 |
146,014,033 (GRCm39) |
nonsense |
probably null |
|
IGL01411:Itpr2
|
APN |
6 |
146,277,560 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01557:Itpr2
|
APN |
6 |
146,060,474 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01669:Itpr2
|
APN |
6 |
146,081,727 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01809:Itpr2
|
APN |
6 |
146,129,079 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01814:Itpr2
|
APN |
6 |
146,134,044 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02198:Itpr2
|
APN |
6 |
146,224,725 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02218:Itpr2
|
APN |
6 |
146,141,760 (GRCm39) |
splice site |
probably benign |
|
IGL02332:Itpr2
|
APN |
6 |
146,328,040 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02425:Itpr2
|
APN |
6 |
146,292,819 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02432:Itpr2
|
APN |
6 |
146,226,671 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02726:Itpr2
|
APN |
6 |
146,277,419 (GRCm39) |
missense |
probably benign |
0.18 |
IGL02851:Itpr2
|
APN |
6 |
146,287,477 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02933:Itpr2
|
APN |
6 |
146,214,402 (GRCm39) |
missense |
probably benign |
|
IGL03015:Itpr2
|
APN |
6 |
146,277,435 (GRCm39) |
missense |
probably benign |
|
IGL03067:Itpr2
|
APN |
6 |
146,226,680 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03093:Itpr2
|
APN |
6 |
146,281,008 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03214:Itpr2
|
APN |
6 |
146,081,742 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03275:Itpr2
|
APN |
6 |
146,060,375 (GRCm39) |
splice site |
probably benign |
|
IGL03332:Itpr2
|
APN |
6 |
146,045,647 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03352:Itpr2
|
APN |
6 |
146,058,602 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03377:Itpr2
|
APN |
6 |
146,231,256 (GRCm39) |
missense |
probably benign |
|
IGL03377:Itpr2
|
APN |
6 |
146,231,213 (GRCm39) |
missense |
probably damaging |
0.96 |
dollar_short
|
UTSW |
6 |
146,298,517 (GRCm39) |
nonsense |
probably null |
|
enfermos
|
UTSW |
6 |
146,135,504 (GRCm39) |
missense |
probably damaging |
0.98 |
Hopla
|
UTSW |
6 |
146,096,096 (GRCm39) |
missense |
probably damaging |
0.98 |
P0029:Itpr2
|
UTSW |
6 |
146,280,987 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4431001:Itpr2
|
UTSW |
6 |
146,256,218 (GRCm39) |
missense |
probably benign |
|
PIT4453001:Itpr2
|
UTSW |
6 |
146,274,671 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4504001:Itpr2
|
UTSW |
6 |
146,131,369 (GRCm39) |
missense |
probably damaging |
0.99 |
R0040:Itpr2
|
UTSW |
6 |
146,246,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R0040:Itpr2
|
UTSW |
6 |
146,246,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R0048:Itpr2
|
UTSW |
6 |
146,133,789 (GRCm39) |
splice site |
probably null |
|
R0048:Itpr2
|
UTSW |
6 |
146,133,789 (GRCm39) |
splice site |
probably null |
|
R0055:Itpr2
|
UTSW |
6 |
146,224,631 (GRCm39) |
missense |
probably benign |
0.42 |
R0055:Itpr2
|
UTSW |
6 |
146,224,631 (GRCm39) |
missense |
probably benign |
0.42 |
R0088:Itpr2
|
UTSW |
6 |
146,142,683 (GRCm39) |
missense |
probably benign |
|
R0089:Itpr2
|
UTSW |
6 |
146,251,520 (GRCm39) |
critical splice donor site |
probably null |
|
R0114:Itpr2
|
UTSW |
6 |
146,214,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R0125:Itpr2
|
UTSW |
6 |
146,141,951 (GRCm39) |
missense |
probably benign |
0.00 |
R0144:Itpr2
|
UTSW |
6 |
146,228,653 (GRCm39) |
missense |
probably damaging |
0.98 |
R0180:Itpr2
|
UTSW |
6 |
146,403,407 (GRCm39) |
start gained |
probably benign |
|
R0211:Itpr2
|
UTSW |
6 |
146,096,111 (GRCm39) |
missense |
probably benign |
0.17 |
R0305:Itpr2
|
UTSW |
6 |
146,212,601 (GRCm39) |
missense |
possibly damaging |
0.63 |
R0367:Itpr2
|
UTSW |
6 |
146,135,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R0374:Itpr2
|
UTSW |
6 |
146,260,890 (GRCm39) |
missense |
probably benign |
0.00 |
R0391:Itpr2
|
UTSW |
6 |
146,131,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R0450:Itpr2
|
UTSW |
6 |
146,319,477 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0464:Itpr2
|
UTSW |
6 |
146,277,387 (GRCm39) |
missense |
probably damaging |
1.00 |
R0510:Itpr2
|
UTSW |
6 |
146,319,477 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0532:Itpr2
|
UTSW |
6 |
146,013,898 (GRCm39) |
missense |
probably damaging |
1.00 |
R0625:Itpr2
|
UTSW |
6 |
146,068,149 (GRCm39) |
missense |
probably benign |
|
R0633:Itpr2
|
UTSW |
6 |
146,275,954 (GRCm39) |
missense |
probably damaging |
1.00 |
R0636:Itpr2
|
UTSW |
6 |
146,072,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R1086:Itpr2
|
UTSW |
6 |
146,251,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R1352:Itpr2
|
UTSW |
6 |
146,013,240 (GRCm39) |
missense |
probably damaging |
1.00 |
R1631:Itpr2
|
UTSW |
6 |
146,081,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R1655:Itpr2
|
UTSW |
6 |
146,277,646 (GRCm39) |
missense |
probably damaging |
1.00 |
R1767:Itpr2
|
UTSW |
6 |
146,251,566 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1779:Itpr2
|
UTSW |
6 |
146,060,399 (GRCm39) |
nonsense |
probably null |
|
R1796:Itpr2
|
UTSW |
6 |
146,198,171 (GRCm39) |
missense |
probably benign |
|
R1815:Itpr2
|
UTSW |
6 |
146,260,914 (GRCm39) |
missense |
probably benign |
0.08 |
R1827:Itpr2
|
UTSW |
6 |
146,229,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R1828:Itpr2
|
UTSW |
6 |
146,229,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R1884:Itpr2
|
UTSW |
6 |
146,287,469 (GRCm39) |
missense |
probably benign |
0.16 |
R1902:Itpr2
|
UTSW |
6 |
146,131,201 (GRCm39) |
missense |
probably damaging |
1.00 |
R1931:Itpr2
|
UTSW |
6 |
146,141,852 (GRCm39) |
missense |
probably benign |
0.41 |
R1964:Itpr2
|
UTSW |
6 |
146,013,191 (GRCm39) |
missense |
probably damaging |
1.00 |
R2010:Itpr2
|
UTSW |
6 |
146,129,022 (GRCm39) |
splice site |
probably null |
|
R2168:Itpr2
|
UTSW |
6 |
146,013,176 (GRCm39) |
missense |
probably benign |
0.05 |
R2179:Itpr2
|
UTSW |
6 |
146,277,464 (GRCm39) |
missense |
probably benign |
|
R2290:Itpr2
|
UTSW |
6 |
146,324,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R2874:Itpr2
|
UTSW |
6 |
146,327,996 (GRCm39) |
missense |
possibly damaging |
0.73 |
R2888:Itpr2
|
UTSW |
6 |
146,072,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R2897:Itpr2
|
UTSW |
6 |
146,224,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R2897:Itpr2
|
UTSW |
6 |
146,074,839 (GRCm39) |
missense |
probably benign |
0.03 |
R2898:Itpr2
|
UTSW |
6 |
146,224,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R2898:Itpr2
|
UTSW |
6 |
146,074,839 (GRCm39) |
missense |
probably benign |
0.03 |
R3024:Itpr2
|
UTSW |
6 |
146,081,808 (GRCm39) |
missense |
probably benign |
0.35 |
R3104:Itpr2
|
UTSW |
6 |
146,214,335 (GRCm39) |
critical splice donor site |
probably null |
|
R3607:Itpr2
|
UTSW |
6 |
146,129,099 (GRCm39) |
missense |
probably damaging |
0.98 |
R3732:Itpr2
|
UTSW |
6 |
146,284,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R3732:Itpr2
|
UTSW |
6 |
146,284,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R3733:Itpr2
|
UTSW |
6 |
146,284,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R3792:Itpr2
|
UTSW |
6 |
146,316,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R3806:Itpr2
|
UTSW |
6 |
146,133,789 (GRCm39) |
splice site |
probably null |
|
R3821:Itpr2
|
UTSW |
6 |
146,319,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R3929:Itpr2
|
UTSW |
6 |
146,275,857 (GRCm39) |
splice site |
probably null |
|
R3958:Itpr2
|
UTSW |
6 |
146,327,008 (GRCm39) |
missense |
probably damaging |
0.97 |
R3959:Itpr2
|
UTSW |
6 |
146,327,008 (GRCm39) |
missense |
probably damaging |
0.97 |
R3960:Itpr2
|
UTSW |
6 |
146,327,008 (GRCm39) |
missense |
probably damaging |
0.97 |
R3960:Itpr2
|
UTSW |
6 |
146,131,262 (GRCm39) |
missense |
probably damaging |
1.00 |
R4074:Itpr2
|
UTSW |
6 |
146,274,742 (GRCm39) |
splice site |
probably null |
|
R4085:Itpr2
|
UTSW |
6 |
146,045,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R4114:Itpr2
|
UTSW |
6 |
146,327,008 (GRCm39) |
missense |
probably damaging |
0.97 |
R4115:Itpr2
|
UTSW |
6 |
146,327,008 (GRCm39) |
missense |
probably damaging |
0.97 |
R4588:Itpr2
|
UTSW |
6 |
146,142,694 (GRCm39) |
missense |
probably benign |
0.33 |
R4663:Itpr2
|
UTSW |
6 |
146,274,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R4673:Itpr2
|
UTSW |
6 |
146,274,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R4684:Itpr2
|
UTSW |
6 |
146,274,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R4686:Itpr2
|
UTSW |
6 |
146,131,273 (GRCm39) |
missense |
probably damaging |
1.00 |
R4713:Itpr2
|
UTSW |
6 |
146,298,456 (GRCm39) |
missense |
probably damaging |
1.00 |
R4713:Itpr2
|
UTSW |
6 |
146,274,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R4729:Itpr2
|
UTSW |
6 |
146,274,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R4733:Itpr2
|
UTSW |
6 |
146,274,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R4801:Itpr2
|
UTSW |
6 |
146,272,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R4802:Itpr2
|
UTSW |
6 |
146,272,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R4877:Itpr2
|
UTSW |
6 |
146,226,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R4970:Itpr2
|
UTSW |
6 |
146,135,489 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4986:Itpr2
|
UTSW |
6 |
146,141,840 (GRCm39) |
missense |
probably damaging |
0.96 |
R5112:Itpr2
|
UTSW |
6 |
146,135,489 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5200:Itpr2
|
UTSW |
6 |
146,045,605 (GRCm39) |
critical splice donor site |
probably null |
|
R5224:Itpr2
|
UTSW |
6 |
146,068,149 (GRCm39) |
missense |
probably benign |
|
R5243:Itpr2
|
UTSW |
6 |
146,089,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R5348:Itpr2
|
UTSW |
6 |
146,378,191 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5393:Itpr2
|
UTSW |
6 |
146,277,653 (GRCm39) |
nonsense |
probably null |
|
R5552:Itpr2
|
UTSW |
6 |
146,195,578 (GRCm39) |
missense |
probably benign |
|
R5579:Itpr2
|
UTSW |
6 |
146,074,864 (GRCm39) |
nonsense |
probably null |
|
R5744:Itpr2
|
UTSW |
6 |
146,277,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R5825:Itpr2
|
UTSW |
6 |
146,045,647 (GRCm39) |
missense |
probably damaging |
0.98 |
R5910:Itpr2
|
UTSW |
6 |
146,231,069 (GRCm39) |
missense |
probably benign |
0.10 |
R5911:Itpr2
|
UTSW |
6 |
146,214,441 (GRCm39) |
missense |
probably benign |
0.42 |
R6044:Itpr2
|
UTSW |
6 |
146,298,449 (GRCm39) |
missense |
probably null |
0.98 |
R6072:Itpr2
|
UTSW |
6 |
146,248,609 (GRCm39) |
missense |
probably damaging |
0.98 |
R6191:Itpr2
|
UTSW |
6 |
146,229,833 (GRCm39) |
missense |
probably benign |
0.01 |
R6483:Itpr2
|
UTSW |
6 |
146,013,975 (GRCm39) |
missense |
possibly damaging |
0.52 |
R6511:Itpr2
|
UTSW |
6 |
146,231,225 (GRCm39) |
missense |
probably damaging |
1.00 |
R6524:Itpr2
|
UTSW |
6 |
146,246,709 (GRCm39) |
missense |
probably benign |
0.01 |
R6561:Itpr2
|
UTSW |
6 |
146,135,504 (GRCm39) |
missense |
probably damaging |
0.98 |
R6594:Itpr2
|
UTSW |
6 |
146,091,978 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6603:Itpr2
|
UTSW |
6 |
146,248,669 (GRCm39) |
missense |
probably damaging |
0.98 |
R6736:Itpr2
|
UTSW |
6 |
146,226,668 (GRCm39) |
missense |
probably damaging |
1.00 |
R6783:Itpr2
|
UTSW |
6 |
146,287,371 (GRCm39) |
critical splice donor site |
probably null |
|
R6831:Itpr2
|
UTSW |
6 |
146,013,927 (GRCm39) |
missense |
probably damaging |
1.00 |
R6857:Itpr2
|
UTSW |
6 |
146,298,517 (GRCm39) |
nonsense |
probably null |
|
R7103:Itpr2
|
UTSW |
6 |
146,226,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R7111:Itpr2
|
UTSW |
6 |
146,226,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R7126:Itpr2
|
UTSW |
6 |
146,259,294 (GRCm39) |
nonsense |
probably null |
|
R7165:Itpr2
|
UTSW |
6 |
146,195,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R7184:Itpr2
|
UTSW |
6 |
146,212,585 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7249:Itpr2
|
UTSW |
6 |
146,212,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R7292:Itpr2
|
UTSW |
6 |
146,060,447 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7342:Itpr2
|
UTSW |
6 |
146,228,685 (GRCm39) |
missense |
probably damaging |
0.98 |
R7392:Itpr2
|
UTSW |
6 |
146,260,838 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7414:Itpr2
|
UTSW |
6 |
146,274,706 (GRCm39) |
missense |
probably benign |
0.06 |
R7448:Itpr2
|
UTSW |
6 |
146,231,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R7492:Itpr2
|
UTSW |
6 |
146,292,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R7515:Itpr2
|
UTSW |
6 |
146,228,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R7529:Itpr2
|
UTSW |
6 |
146,096,096 (GRCm39) |
missense |
probably damaging |
0.98 |
R7558:Itpr2
|
UTSW |
6 |
146,292,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R7650:Itpr2
|
UTSW |
6 |
146,135,492 (GRCm39) |
missense |
probably benign |
0.36 |
R7678:Itpr2
|
UTSW |
6 |
146,089,048 (GRCm39) |
missense |
probably benign |
0.00 |
R7790:Itpr2
|
UTSW |
6 |
146,126,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R7798:Itpr2
|
UTSW |
6 |
146,287,513 (GRCm39) |
missense |
probably benign |
0.06 |
R7831:Itpr2
|
UTSW |
6 |
146,193,082 (GRCm39) |
missense |
probably benign |
0.04 |
R8023:Itpr2
|
UTSW |
6 |
146,088,988 (GRCm39) |
missense |
probably damaging |
0.97 |
R8046:Itpr2
|
UTSW |
6 |
146,327,957 (GRCm39) |
missense |
probably damaging |
0.96 |
R8236:Itpr2
|
UTSW |
6 |
146,292,281 (GRCm39) |
critical splice donor site |
probably null |
|
R8241:Itpr2
|
UTSW |
6 |
146,320,013 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8245:Itpr2
|
UTSW |
6 |
146,274,604 (GRCm39) |
missense |
probably damaging |
0.98 |
R8324:Itpr2
|
UTSW |
6 |
146,229,896 (GRCm39) |
missense |
probably damaging |
0.97 |
R8339:Itpr2
|
UTSW |
6 |
146,214,396 (GRCm39) |
missense |
probably benign |
0.19 |
R8458:Itpr2
|
UTSW |
6 |
146,135,464 (GRCm39) |
missense |
possibly damaging |
0.62 |
R8506:Itpr2
|
UTSW |
6 |
146,319,914 (GRCm39) |
critical splice donor site |
probably null |
|
R8529:Itpr2
|
UTSW |
6 |
146,231,051 (GRCm39) |
missense |
probably damaging |
1.00 |
R8672:Itpr2
|
UTSW |
6 |
146,276,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R8755:Itpr2
|
UTSW |
6 |
146,133,926 (GRCm39) |
missense |
probably benign |
|
R8816:Itpr2
|
UTSW |
6 |
146,142,710 (GRCm39) |
missense |
probably damaging |
0.98 |
R9160:Itpr2
|
UTSW |
6 |
146,276,099 (GRCm39) |
missense |
probably damaging |
1.00 |
R9273:Itpr2
|
UTSW |
6 |
146,226,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R9284:Itpr2
|
UTSW |
6 |
146,256,174 (GRCm39) |
missense |
probably benign |
0.01 |
R9322:Itpr2
|
UTSW |
6 |
146,226,587 (GRCm39) |
missense |
probably benign |
0.19 |
R9357:Itpr2
|
UTSW |
6 |
146,260,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R9424:Itpr2
|
UTSW |
6 |
146,212,505 (GRCm39) |
missense |
probably damaging |
0.98 |
R9438:Itpr2
|
UTSW |
6 |
146,068,166 (GRCm39) |
missense |
probably benign |
|
R9576:Itpr2
|
UTSW |
6 |
146,212,505 (GRCm39) |
missense |
probably damaging |
0.98 |
V8831:Itpr2
|
UTSW |
6 |
146,287,380 (GRCm39) |
missense |
probably damaging |
1.00 |
X0054:Itpr2
|
UTSW |
6 |
146,224,734 (GRCm39) |
missense |
probably damaging |
1.00 |
X0063:Itpr2
|
UTSW |
6 |
146,081,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCACCTGGTTTCTAGCAAGAATAC -3'
(R):5'- TTGACGTGTCCAAGGCAGTG -3'
Sequencing Primer
(F):5'- TGGTTCTCAGCACCCACATGG -3'
(R):5'- TGCACTCTAGGAGTCAGACTG -3'
|
Posted On |
2015-11-11 |