Incidental Mutation 'R2012:Itpr1'
| ID |
219912 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itpr1
|
| Ensembl Gene |
ENSMUSG00000030102 |
| Gene Name |
inositol 1,4,5-trisphosphate receptor 1 |
| Synonyms |
opt, IP3R1, P400, wblo, Ip3r, Pcp-1, Itpr-1, InsP3R type I, Pcp1 |
| MMRRC Submission |
040021-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.736)
|
| Stock # |
R2012 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
108190057-108528070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 108417497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1788
(M1788K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144880
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032192]
[ENSMUST00000203262]
[ENSMUST00000203615]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032192
AA Change: M1789K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000032192
Gene: ENSMUSG00000030102
AA Change: M1789K
| Domain | Start | End | E-Value | Type |
|---|
|
MIR
|
112 |
166 |
7.99e-8 |
SMART |
|
MIR
|
173 |
223 |
1.02e-5 |
SMART |
|
MIR
|
231 |
287 |
2.33e-9 |
SMART |
|
MIR
|
294 |
403 |
5.95e-16 |
SMART |
|
Pfam:RYDR_ITPR
|
474 |
670 |
2.3e-61 |
PFAM |
|
low complexity region
|
683 |
695 |
N/A |
INTRINSIC |
|
low complexity region
|
884 |
895 |
N/A |
INTRINSIC |
|
low complexity region
|
1004 |
1020 |
N/A |
INTRINSIC |
|
Pfam:RYDR_ITPR
|
1183 |
1344 |
1.9e-14 |
PFAM |
|
low complexity region
|
1758 |
1787 |
N/A |
INTRINSIC |
|
Pfam:RIH_assoc
|
1959 |
2069 |
1.2e-33 |
PFAM |
|
transmembrane domain
|
2274 |
2296 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
2311 |
2600 |
9e-22 |
PFAM |
|
coiled coil region
|
2683 |
2732 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203262
AA Change: M175K
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000145177
Gene: ENSMUSG00000030102
AA Change: M175K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
144 |
173 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203615
AA Change: M1788K
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000144880
Gene: ENSMUSG00000030102
AA Change: M1788K
| Domain | Start | End | E-Value | Type |
|---|
|
MIR
|
112 |
166 |
7.99e-8 |
SMART |
|
MIR
|
173 |
223 |
1.02e-5 |
SMART |
|
MIR
|
231 |
287 |
2.33e-9 |
SMART |
|
MIR
|
294 |
403 |
5.95e-16 |
SMART |
|
Pfam:RYDR_ITPR
|
474 |
670 |
2.3e-61 |
PFAM |
|
low complexity region
|
683 |
695 |
N/A |
INTRINSIC |
|
low complexity region
|
884 |
895 |
N/A |
INTRINSIC |
|
low complexity region
|
1004 |
1020 |
N/A |
INTRINSIC |
|
Pfam:RYDR_ITPR
|
1183 |
1344 |
1.9e-14 |
PFAM |
|
low complexity region
|
1757 |
1786 |
N/A |
INTRINSIC |
|
Pfam:RIH_assoc
|
1958 |
2068 |
1.2e-33 |
PFAM |
|
transmembrane domain
|
2273 |
2295 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
2310 |
2599 |
9e-22 |
PFAM |
|
coiled coil region
|
2682 |
2731 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000203638
AA Change: M124K
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000203687
AA Change: M116K
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]
PHENOTYPE: Most homozygotes for a targeted null mutation die in utero, while survivors exhibit severe ataxia, seizures, and lethality by weaning age. Homozygotes for a spontaneous mutation exhibit a postnatal phenotype similar to that of knockout mutants. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(71) : Targeted(2) Gene trapped(67) Spontaneous(2)
|
| Other mutations in this stock |
Total: 109 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
A |
T |
5: 8,167,634 (GRCm39) |
S675R |
probably damaging |
Het |
| Akap5 |
A |
T |
12: 76,376,122 (GRCm39) |
H518L |
possibly damaging |
Het |
| Ankfn1 |
T |
C |
11: 89,296,423 (GRCm39) |
D102G |
probably damaging |
Het |
| Aox3 |
A |
T |
1: 58,177,391 (GRCm39) |
Y202F |
probably benign |
Het |
| Arhgef37 |
G |
A |
18: 61,637,427 (GRCm39) |
L412F |
possibly damaging |
Het |
| B4galt3 |
C |
T |
1: 171,100,118 (GRCm39) |
P121L |
probably damaging |
Het |
| BC034090 |
C |
T |
1: 155,097,178 (GRCm39) |
R640Q |
probably damaging |
Het |
| Bhmt |
A |
T |
13: 93,761,900 (GRCm39) |
Y128N |
probably damaging |
Het |
| Bin3 |
A |
G |
14: 70,372,222 (GRCm39) |
E173G |
probably damaging |
Het |
| C1qtnf1 |
T |
A |
11: 118,339,110 (GRCm39) |
F260Y |
probably benign |
Het |
| Ccdc14 |
G |
T |
16: 34,511,092 (GRCm39) |
G22V |
possibly damaging |
Het |
| Ccnc |
A |
T |
4: 21,741,955 (GRCm39) |
I135L |
possibly damaging |
Het |
| Chd3 |
T |
C |
11: 69,239,878 (GRCm39) |
D1650G |
probably benign |
Het |
| Cherp |
A |
C |
8: 73,228,613 (GRCm39) |
N14K |
probably damaging |
Het |
| Clint1 |
C |
T |
11: 45,784,919 (GRCm39) |
T306I |
possibly damaging |
Het |
| Cyb5r1 |
T |
A |
1: 134,335,315 (GRCm39) |
Y85N |
probably damaging |
Het |
| D830013O20Rik |
A |
G |
12: 73,418,162 (GRCm39) |
|
noncoding transcript |
Het |
| Dapk1 |
A |
T |
13: 60,869,671 (GRCm39) |
K304N |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,044,449 (GRCm39) |
N3169Y |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,169,589 (GRCm39) |
I296K |
probably benign |
Het |
| Elp2 |
A |
T |
18: 24,764,515 (GRCm39) |
T621S |
probably benign |
Het |
| Eml6 |
G |
T |
11: 29,781,128 (GRCm39) |
Q635K |
possibly damaging |
Het |
| Exph5 |
G |
A |
9: 53,278,466 (GRCm39) |
M192I |
possibly damaging |
Het |
| Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
| Gas6 |
C |
T |
8: 13,518,266 (GRCm39) |
V523M |
probably damaging |
Het |
| Ggn |
A |
T |
7: 28,873,188 (GRCm39) |
|
probably null |
Het |
| Gimap8 |
A |
G |
6: 48,633,287 (GRCm39) |
T369A |
probably damaging |
Het |
| Grm5 |
T |
C |
7: 87,724,080 (GRCm39) |
I790T |
probably damaging |
Het |
| Gtpbp6 |
G |
A |
5: 110,252,790 (GRCm39) |
A354V |
probably damaging |
Het |
| Habp4 |
G |
A |
13: 64,317,995 (GRCm39) |
|
probably null |
Het |
| Has2 |
A |
G |
15: 56,531,264 (GRCm39) |
W484R |
probably damaging |
Het |
| Herc4 |
G |
T |
10: 63,079,817 (GRCm39) |
|
probably benign |
Het |
| Igf2 |
C |
A |
7: 142,208,136 (GRCm39) |
E106D |
probably damaging |
Het |
| Il17rb |
A |
T |
14: 29,718,797 (GRCm39) |
C428* |
probably null |
Het |
| Ipo11 |
A |
T |
13: 107,056,130 (GRCm39) |
N47K |
probably benign |
Het |
| Itga4 |
T |
G |
2: 79,108,138 (GRCm39) |
S197A |
probably damaging |
Het |
| Kbtbd3 |
C |
T |
9: 4,330,919 (GRCm39) |
T431I |
probably benign |
Het |
| Kif5a |
A |
T |
10: 127,075,044 (GRCm39) |
V523E |
probably benign |
Het |
| Klhl41 |
A |
T |
2: 69,513,840 (GRCm39) |
D573V |
possibly damaging |
Het |
| Kndc1 |
C |
A |
7: 139,501,196 (GRCm39) |
H828Q |
possibly damaging |
Het |
| Leng8 |
T |
A |
7: 4,146,609 (GRCm39) |
V407D |
probably damaging |
Het |
| Mamdc2 |
C |
T |
19: 23,288,215 (GRCm39) |
E608K |
probably benign |
Het |
| Mcf2 |
T |
A |
X: 59,122,574 (GRCm39) |
R850S |
probably damaging |
Het |
| Mmp2 |
A |
G |
8: 93,576,831 (GRCm39) |
N618S |
probably benign |
Het |
| Morn5 |
A |
T |
2: 35,942,950 (GRCm39) |
M17L |
probably benign |
Het |
| Nme8 |
T |
C |
13: 19,881,053 (GRCm39) |
N26S |
probably damaging |
Het |
| Nostrin |
C |
A |
2: 68,975,111 (GRCm39) |
|
probably null |
Het |
| Npy4r |
T |
A |
14: 33,869,154 (GRCm39) |
I45F |
possibly damaging |
Het |
| Or13a21 |
T |
A |
7: 139,999,024 (GRCm39) |
I221F |
probably damaging |
Het |
| Or1j11 |
A |
G |
2: 36,311,931 (GRCm39) |
I174V |
probably benign |
Het |
| Or2aj5 |
C |
T |
16: 19,424,881 (GRCm39) |
C179Y |
probably benign |
Het |
| Or2w1 |
T |
A |
13: 21,317,659 (GRCm39) |
M238K |
probably benign |
Het |
| Or2w3b |
T |
C |
11: 58,623,214 (GRCm39) |
Y259C |
possibly damaging |
Het |
| Or4a70 |
A |
G |
2: 89,324,342 (GRCm39) |
F105L |
probably benign |
Het |
| Or5d36 |
A |
G |
2: 87,901,063 (GRCm39) |
V221A |
probably benign |
Het |
| Oxt |
A |
G |
2: 130,418,572 (GRCm39) |
D61G |
probably damaging |
Het |
| Patl1 |
T |
C |
19: 11,917,181 (GRCm39) |
L676P |
probably damaging |
Het |
| Pcdhb20 |
G |
A |
18: 37,638,127 (GRCm39) |
G218R |
probably damaging |
Het |
| Pdgfrb |
T |
A |
18: 61,194,566 (GRCm39) |
S114R |
probably benign |
Het |
| Pfdn5 |
A |
G |
15: 102,234,956 (GRCm39) |
N54S |
possibly damaging |
Het |
| Phldb1 |
G |
T |
9: 44,639,333 (GRCm39) |
T15N |
possibly damaging |
Het |
| Pink1 |
A |
C |
4: 138,045,316 (GRCm39) |
S253A |
probably null |
Het |
| Plag1 |
A |
T |
4: 3,904,870 (GRCm39) |
L107Q |
probably damaging |
Het |
| Pld5 |
C |
A |
1: 175,791,579 (GRCm39) |
V476L |
probably benign |
Het |
| Pramel28 |
A |
T |
4: 143,692,637 (GRCm39) |
D121E |
probably benign |
Het |
| Prrt2 |
C |
T |
7: 126,618,581 (GRCm39) |
A295T |
probably damaging |
Het |
| Ptgs1 |
A |
G |
2: 36,127,668 (GRCm39) |
I76V |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,001,026 (GRCm39) |
T1039A |
probably benign |
Het |
| Rbm20 |
G |
A |
19: 53,847,859 (GRCm39) |
C1135Y |
probably damaging |
Het |
| Recql5 |
A |
T |
11: 115,787,923 (GRCm39) |
N465K |
probably benign |
Het |
| Rgs12 |
A |
G |
5: 35,187,872 (GRCm39) |
S510G |
probably benign |
Het |
| Satb1 |
G |
A |
17: 52,089,816 (GRCm39) |
Q344* |
probably null |
Het |
| Sdr16c5 |
A |
G |
4: 3,996,244 (GRCm39) |
I283T |
probably benign |
Het |
| Serpinb3c |
T |
C |
1: 107,199,574 (GRCm39) |
S316G |
possibly damaging |
Het |
| Siglec1 |
A |
T |
2: 130,925,277 (GRCm39) |
Y395N |
probably damaging |
Het |
| Simc1 |
A |
G |
13: 54,651,701 (GRCm39) |
I5V |
probably benign |
Het |
| Slc27a2 |
T |
C |
2: 126,395,535 (GRCm39) |
V154A |
probably damaging |
Het |
| Slc27a5 |
A |
G |
7: 12,731,634 (GRCm39) |
L119S |
probably damaging |
Het |
| Slc35g2 |
T |
A |
9: 100,435,120 (GRCm39) |
T184S |
possibly damaging |
Het |
| Slc4a7 |
C |
T |
14: 14,733,727 (GRCm38) |
R46* |
probably null |
Het |
| Smcr8 |
T |
C |
11: 60,669,010 (GRCm39) |
F53L |
probably damaging |
Het |
| Spag9 |
T |
A |
11: 93,983,201 (GRCm39) |
L504* |
probably null |
Het |
| Spata31d1a |
A |
G |
13: 59,850,370 (GRCm39) |
I586T |
possibly damaging |
Het |
| Spata31d1c |
A |
T |
13: 65,183,041 (GRCm39) |
E194D |
possibly damaging |
Het |
| Spats2 |
A |
G |
15: 99,076,375 (GRCm39) |
E151G |
probably damaging |
Het |
| Sugp2 |
T |
A |
8: 70,695,861 (GRCm39) |
L278Q |
possibly damaging |
Het |
| Sult2a7 |
T |
A |
7: 14,207,322 (GRCm39) |
|
probably benign |
Het |
| Syde2 |
G |
T |
3: 145,694,163 (GRCm39) |
G137V |
possibly damaging |
Het |
| Synj1 |
A |
T |
16: 90,735,584 (GRCm39) |
F1456L |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,220,862 (GRCm39) |
|
probably benign |
Het |
| Timd4 |
C |
A |
11: 46,710,857 (GRCm39) |
T253K |
possibly damaging |
Het |
| Tlr3 |
G |
T |
8: 45,855,823 (GRCm39) |
T119N |
possibly damaging |
Het |
| Tmc6 |
A |
G |
11: 117,660,232 (GRCm39) |
Y669H |
probably damaging |
Het |
| Tmem221 |
T |
C |
8: 72,008,458 (GRCm39) |
E194G |
probably benign |
Het |
| Tmem232 |
C |
A |
17: 65,807,167 (GRCm39) |
V9F |
probably benign |
Het |
| Tpm1 |
G |
A |
9: 66,941,247 (GRCm39) |
Q135* |
probably null |
Het |
| Trank1 |
A |
G |
9: 111,194,096 (GRCm39) |
T707A |
probably benign |
Het |
| Trpm7 |
A |
T |
2: 126,665,917 (GRCm39) |
Y896* |
probably null |
Het |
| Tuba4a |
A |
T |
1: 75,192,983 (GRCm39) |
Y210* |
probably null |
Het |
| Tut7 |
A |
G |
13: 59,959,352 (GRCm39) |
V372A |
probably damaging |
Het |
| Vegfa |
T |
G |
17: 46,336,284 (GRCm39) |
I279L |
probably benign |
Het |
| Vmn2r54 |
T |
A |
7: 12,349,804 (GRCm39) |
T593S |
probably damaging |
Het |
| Vmn2r93 |
A |
G |
17: 18,536,840 (GRCm39) |
I508V |
probably benign |
Het |
| Vps33a |
G |
T |
5: 123,669,244 (GRCm39) |
|
probably null |
Het |
| Wasl |
T |
A |
6: 24,624,360 (GRCm39) |
N231I |
probably damaging |
Het |
| Zbtb39 |
A |
G |
10: 127,578,703 (GRCm39) |
N426D |
probably benign |
Het |
| Zeb2 |
T |
G |
2: 44,887,962 (GRCm39) |
H350P |
probably damaging |
Het |
| Zfp112 |
T |
C |
7: 23,824,725 (GRCm39) |
F231S |
possibly damaging |
Het |
| Zfp180 |
T |
C |
7: 23,803,943 (GRCm39) |
S121P |
probably benign |
Het |
|
| Other mutations in Itpr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00979:Itpr1
|
APN |
6 |
108,448,081 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01073:Itpr1
|
APN |
6 |
108,390,781 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01105:Itpr1
|
APN |
6 |
108,358,294 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01296:Itpr1
|
APN |
6 |
108,376,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01325:Itpr1
|
APN |
6 |
108,358,169 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01418:Itpr1
|
APN |
6 |
108,316,585 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01464:Itpr1
|
APN |
6 |
108,363,688 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01467:Itpr1
|
APN |
6 |
108,465,457 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01645:Itpr1
|
APN |
6 |
108,450,560 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01672:Itpr1
|
APN |
6 |
108,357,993 (GRCm39) |
nonsense |
probably null |
|
|
IGL01969:Itpr1
|
APN |
6 |
108,354,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02164:Itpr1
|
APN |
6 |
108,366,444 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02206:Itpr1
|
APN |
6 |
108,526,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02232:Itpr1
|
APN |
6 |
108,394,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02297:Itpr1
|
APN |
6 |
108,316,478 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02434:Itpr1
|
APN |
6 |
108,466,883 (GRCm39) |
splice site |
probably null |
|
|
IGL02568:Itpr1
|
APN |
6 |
108,316,515 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02992:Itpr1
|
APN |
6 |
108,358,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03109:Itpr1
|
APN |
6 |
108,394,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03130:Itpr1
|
APN |
6 |
108,500,362 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03333:Itpr1
|
APN |
6 |
108,357,871 (GRCm39) |
unclassified |
probably benign |
|
|
aboriginal
|
UTSW |
6 |
108,492,908 (GRCm39) |
missense |
probably benign |
|
|
approximation
|
UTSW |
6 |
108,371,802 (GRCm39) |
missense |
probably benign |
|
|
estimate
|
UTSW |
6 |
108,366,514 (GRCm39) |
missense |
probably null |
1.00 |
|
icarus
|
UTSW |
6 |
108,387,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
marsupialized
|
UTSW |
6 |
108,371,034 (GRCm39) |
splice site |
probably null |
|
|
primordial
|
UTSW |
6 |
108,495,716 (GRCm39) |
missense |
probably benign |
0.06 |
|
roo
|
UTSW |
6 |
108,387,828 (GRCm39) |
missense |
probably benign |
0.00 |
|
wallaby
|
UTSW |
6 |
108,366,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0005:Itpr1
|
UTSW |
6 |
108,358,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4366001:Itpr1
|
UTSW |
6 |
108,470,718 (GRCm39) |
nonsense |
probably null |
|
|
R0019:Itpr1
|
UTSW |
6 |
108,331,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0128:Itpr1
|
UTSW |
6 |
108,448,170 (GRCm39) |
splice site |
probably benign |
|
|
R0129:Itpr1
|
UTSW |
6 |
108,326,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0135:Itpr1
|
UTSW |
6 |
108,465,443 (GRCm39) |
splice site |
probably benign |
|
|
R0244:Itpr1
|
UTSW |
6 |
108,450,550 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0391:Itpr1
|
UTSW |
6 |
108,355,128 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0543:Itpr1
|
UTSW |
6 |
108,492,709 (GRCm39) |
splice site |
probably benign |
|
|
R0647:Itpr1
|
UTSW |
6 |
108,360,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0766:Itpr1
|
UTSW |
6 |
108,387,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0971:Itpr1
|
UTSW |
6 |
108,326,590 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1083:Itpr1
|
UTSW |
6 |
108,487,657 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1277:Itpr1
|
UTSW |
6 |
108,316,582 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1403:Itpr1
|
UTSW |
6 |
108,366,514 (GRCm39) |
missense |
probably null |
1.00 |
|
R1403:Itpr1
|
UTSW |
6 |
108,366,514 (GRCm39) |
missense |
probably null |
1.00 |
|
R1404:Itpr1
|
UTSW |
6 |
108,363,609 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1404:Itpr1
|
UTSW |
6 |
108,363,609 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1605:Itpr1
|
UTSW |
6 |
108,326,620 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1661:Itpr1
|
UTSW |
6 |
108,459,858 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1852:Itpr1
|
UTSW |
6 |
108,363,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Itpr1
|
UTSW |
6 |
108,470,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2027:Itpr1
|
UTSW |
6 |
108,363,814 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2111:Itpr1
|
UTSW |
6 |
108,355,270 (GRCm39) |
unclassified |
probably benign |
|
|
R2166:Itpr1
|
UTSW |
6 |
108,365,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2272:Itpr1
|
UTSW |
6 |
108,470,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2484:Itpr1
|
UTSW |
6 |
108,346,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3115:Itpr1
|
UTSW |
6 |
108,383,070 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R3751:Itpr1
|
UTSW |
6 |
108,326,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3798:Itpr1
|
UTSW |
6 |
108,358,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3930:Itpr1
|
UTSW |
6 |
108,371,802 (GRCm39) |
missense |
probably benign |
|
|
R4081:Itpr1
|
UTSW |
6 |
108,368,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4119:Itpr1
|
UTSW |
6 |
108,371,316 (GRCm39) |
missense |
probably benign |
|
|
R4406:Itpr1
|
UTSW |
6 |
108,331,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4506:Itpr1
|
UTSW |
6 |
108,409,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4616:Itpr1
|
UTSW |
6 |
108,458,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4655:Itpr1
|
UTSW |
6 |
108,458,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4661:Itpr1
|
UTSW |
6 |
108,387,892 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4760:Itpr1
|
UTSW |
6 |
108,326,593 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4836:Itpr1
|
UTSW |
6 |
108,366,498 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4857:Itpr1
|
UTSW |
6 |
108,387,828 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4876:Itpr1
|
UTSW |
6 |
108,459,867 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4939:Itpr1
|
UTSW |
6 |
108,417,519 (GRCm39) |
nonsense |
probably null |
|
|
R5076:Itpr1
|
UTSW |
6 |
108,382,490 (GRCm39) |
splice site |
probably null |
|
|
R5088:Itpr1
|
UTSW |
6 |
108,366,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5248:Itpr1
|
UTSW |
6 |
108,519,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5290:Itpr1
|
UTSW |
6 |
108,383,106 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5308:Itpr1
|
UTSW |
6 |
108,333,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5339:Itpr1
|
UTSW |
6 |
108,370,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5368:Itpr1
|
UTSW |
6 |
108,364,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5369:Itpr1
|
UTSW |
6 |
108,496,385 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5419:Itpr1
|
UTSW |
6 |
108,470,755 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5615:Itpr1
|
UTSW |
6 |
108,465,561 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5779:Itpr1
|
UTSW |
6 |
108,329,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5781:Itpr1
|
UTSW |
6 |
108,487,699 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5869:Itpr1
|
UTSW |
6 |
108,450,490 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5903:Itpr1
|
UTSW |
6 |
108,466,758 (GRCm39) |
intron |
probably benign |
|
|
R5929:Itpr1
|
UTSW |
6 |
108,400,297 (GRCm39) |
missense |
probably benign |
|
|
R5956:Itpr1
|
UTSW |
6 |
108,482,988 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6160:Itpr1
|
UTSW |
6 |
108,495,716 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6163:Itpr1
|
UTSW |
6 |
108,365,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6169:Itpr1
|
UTSW |
6 |
108,346,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6237:Itpr1
|
UTSW |
6 |
108,355,164 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6398:Itpr1
|
UTSW |
6 |
108,482,864 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6455:Itpr1
|
UTSW |
6 |
108,394,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6522:Itpr1
|
UTSW |
6 |
108,365,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6524:Itpr1
|
UTSW |
6 |
108,340,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6650:Itpr1
|
UTSW |
6 |
108,371,034 (GRCm39) |
splice site |
probably null |
|
|
R6806:Itpr1
|
UTSW |
6 |
108,492,908 (GRCm39) |
missense |
probably benign |
|
|
R6838:Itpr1
|
UTSW |
6 |
108,448,152 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6841:Itpr1
|
UTSW |
6 |
108,365,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6896:Itpr1
|
UTSW |
6 |
108,458,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7014:Itpr1
|
UTSW |
6 |
108,408,459 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7076:Itpr1
|
UTSW |
6 |
108,365,257 (GRCm39) |
missense |
probably benign |
|
|
R7116:Itpr1
|
UTSW |
6 |
108,458,229 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7152:Itpr1
|
UTSW |
6 |
108,371,368 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7161:Itpr1
|
UTSW |
6 |
108,363,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7166:Itpr1
|
UTSW |
6 |
108,355,151 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7241:Itpr1
|
UTSW |
6 |
108,494,581 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7301:Itpr1
|
UTSW |
6 |
108,518,985 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7330:Itpr1
|
UTSW |
6 |
108,415,292 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7449:Itpr1
|
UTSW |
6 |
108,366,345 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7472:Itpr1
|
UTSW |
6 |
108,380,357 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7502:Itpr1
|
UTSW |
6 |
108,360,639 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7779:Itpr1
|
UTSW |
6 |
108,500,309 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7828:Itpr1
|
UTSW |
6 |
108,459,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7854:Itpr1
|
UTSW |
6 |
108,364,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7974:Itpr1
|
UTSW |
6 |
108,500,366 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7998:Itpr1
|
UTSW |
6 |
108,394,909 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8039:Itpr1
|
UTSW |
6 |
108,363,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8136:Itpr1
|
UTSW |
6 |
108,415,321 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8200:Itpr1
|
UTSW |
6 |
108,371,826 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8242:Itpr1
|
UTSW |
6 |
108,363,658 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8322:Itpr1
|
UTSW |
6 |
108,365,190 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8377:Itpr1
|
UTSW |
6 |
108,487,699 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8412:Itpr1
|
UTSW |
6 |
108,340,581 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8443:Itpr1
|
UTSW |
6 |
108,496,309 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8669:Itpr1
|
UTSW |
6 |
108,370,928 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8697:Itpr1
|
UTSW |
6 |
108,500,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8744:Itpr1
|
UTSW |
6 |
108,354,763 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8870:Itpr1
|
UTSW |
6 |
108,365,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8921:Itpr1
|
UTSW |
6 |
108,355,159 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8961:Itpr1
|
UTSW |
6 |
108,470,666 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9095:Itpr1
|
UTSW |
6 |
108,364,352 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9205:Itpr1
|
UTSW |
6 |
108,466,810 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9282:Itpr1
|
UTSW |
6 |
108,370,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9323:Itpr1
|
UTSW |
6 |
108,328,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9376:Itpr1
|
UTSW |
6 |
108,326,638 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9392:Itpr1
|
UTSW |
6 |
108,390,837 (GRCm39) |
missense |
probably benign |
|
|
R9428:Itpr1
|
UTSW |
6 |
108,378,308 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9621:Itpr1
|
UTSW |
6 |
108,393,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9632:Itpr1
|
UTSW |
6 |
108,382,481 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9646:Itpr1
|
UTSW |
6 |
108,371,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9695:Itpr1
|
UTSW |
6 |
108,378,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9710:Itpr1
|
UTSW |
6 |
108,382,481 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9721:Itpr1
|
UTSW |
6 |
108,383,063 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9780:Itpr1
|
UTSW |
6 |
108,487,795 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1176:Itpr1
|
UTSW |
6 |
108,476,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTGCCTGAGTTCAGTAC -3'
(R):5'- GACTTGGCCCTCAGAACTAG -3'
Sequencing Primer
(F):5'- GAGTTCAGTACCATGTTTGCCAC -3'
(R):5'- TTGGCCCTCAGAACTAGGGTAC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation