Incidental Mutation 'R1852:Itpr1'
| ID |
208205 |
| 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 |
039876-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.736)
|
| Stock # |
R1852 (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 C
at 108363667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 763
(L763P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144880
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032192]
[ENSMUST00000203615]
[ENSMUST00000212125]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032192
AA Change: L763P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000032192
Gene: ENSMUSG00000030102
AA Change: L763P
| 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 damaging
Transcript: ENSMUST00000203615
AA Change: L763P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000144880
Gene: ENSMUSG00000030102
AA Change: L763P
| 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 |
noncoding transcript
Transcript: ENSMUST00000203995
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212125
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.0%
- 20x: 91.6%
|
| 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: 106 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
A |
G |
7: 12,246,629 (GRCm39) |
|
probably null |
Het |
| 4930433I11Rik |
T |
A |
7: 40,643,037 (GRCm39) |
D326E |
probably benign |
Het |
| Abca8a |
T |
C |
11: 109,960,212 (GRCm39) |
D676G |
probably damaging |
Het |
| Abcb7 |
T |
C |
X: 103,349,005 (GRCm39) |
M153V |
probably benign |
Het |
| Ablim3 |
G |
A |
18: 61,982,466 (GRCm39) |
H160Y |
probably benign |
Het |
| Acsl6 |
T |
C |
11: 54,251,902 (GRCm39) |
I683T |
probably damaging |
Het |
| Adgrg5 |
A |
T |
8: 95,664,428 (GRCm39) |
Y345F |
probably damaging |
Het |
| Alg6 |
T |
G |
4: 99,634,599 (GRCm39) |
F114V |
probably benign |
Het |
| Ank2 |
A |
C |
3: 126,791,500 (GRCm39) |
|
probably null |
Het |
| Ankrd24 |
A |
T |
10: 81,478,775 (GRCm39) |
|
probably benign |
Het |
| Ano8 |
T |
C |
8: 71,936,131 (GRCm39) |
K222E |
probably damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,252,119 (GRCm39) |
S957P |
probably benign |
Het |
| Bltp2 |
A |
G |
11: 78,159,299 (GRCm39) |
D499G |
probably damaging |
Het |
| Bmpr1b |
A |
T |
3: 141,563,163 (GRCm39) |
|
probably null |
Het |
| C3 |
A |
G |
17: 57,529,823 (GRCm39) |
V2A |
probably damaging |
Het |
| Capn1 |
A |
G |
19: 6,059,133 (GRCm39) |
V276A |
possibly damaging |
Het |
| Ccdc57 |
T |
C |
11: 120,812,499 (GRCm39) |
E85G |
probably damaging |
Het |
| Chil3 |
C |
T |
3: 106,056,117 (GRCm39) |
|
probably null |
Het |
| Chl1 |
A |
T |
6: 103,676,120 (GRCm39) |
|
probably null |
Het |
| Chodl |
C |
T |
16: 78,738,146 (GRCm39) |
P38L |
probably benign |
Het |
| Clec4a2 |
G |
T |
6: 123,116,084 (GRCm39) |
E124* |
probably null |
Het |
| Cmtr1 |
T |
C |
17: 29,921,229 (GRCm39) |
V825A |
probably benign |
Het |
| Cnksr3 |
T |
C |
10: 7,070,539 (GRCm39) |
I232V |
probably benign |
Het |
| Cntn1 |
C |
T |
15: 92,203,021 (GRCm39) |
R768C |
probably damaging |
Het |
| Col15a1 |
G |
T |
4: 47,299,278 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
T |
A |
1: 90,735,256 (GRCm39) |
I798F |
possibly damaging |
Het |
| Cpxcr1 |
T |
A |
X: 115,387,758 (GRCm39) |
L223* |
probably null |
Het |
| Cul1 |
A |
G |
6: 47,497,764 (GRCm39) |
N615S |
probably damaging |
Het |
| Cxcr2 |
A |
G |
1: 74,198,438 (GRCm39) |
I311V |
probably benign |
Het |
| Cyp2c67 |
C |
T |
19: 39,605,811 (GRCm39) |
G362S |
probably benign |
Het |
| D930048N14Rik |
T |
A |
11: 51,544,692 (GRCm39) |
|
probably benign |
Het |
| Ddx49 |
T |
C |
8: 70,753,633 (GRCm39) |
T79A |
probably damaging |
Het |
| Defb46 |
T |
A |
8: 19,289,991 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
T |
A |
11: 118,012,742 (GRCm39) |
I145F |
probably damaging |
Het |
| Dock8 |
A |
T |
19: 25,104,492 (GRCm39) |
I725F |
probably benign |
Het |
| Dppa4 |
G |
A |
16: 48,108,247 (GRCm39) |
A11T |
probably damaging |
Het |
| Enam |
T |
A |
5: 88,652,324 (GRCm39) |
S1278T |
possibly damaging |
Het |
| Fndc3a |
A |
G |
14: 72,794,283 (GRCm39) |
V829A |
probably damaging |
Het |
| Gatb |
T |
G |
3: 85,526,184 (GRCm39) |
L354R |
probably damaging |
Het |
| Gm10787 |
A |
T |
10: 76,857,711 (GRCm39) |
|
noncoding transcript |
Het |
| Gsap |
T |
A |
5: 21,495,543 (GRCm39) |
|
probably null |
Het |
| Gtf2ird1 |
T |
C |
5: 134,411,434 (GRCm39) |
|
probably null |
Het |
| Has3 |
A |
T |
8: 107,600,711 (GRCm39) |
I58F |
probably damaging |
Het |
| Haus5 |
A |
T |
7: 30,357,926 (GRCm39) |
|
probably null |
Het |
| Hip1r |
T |
C |
5: 124,129,568 (GRCm39) |
V169A |
probably benign |
Het |
| Hnf1a |
T |
A |
5: 115,108,770 (GRCm39) |
D45V |
probably damaging |
Het |
| Il20ra |
T |
A |
10: 19,618,767 (GRCm39) |
Y72N |
probably damaging |
Het |
| Ipo11 |
A |
T |
13: 106,948,765 (GRCm39) |
V914E |
possibly damaging |
Het |
| Katnal2 |
C |
A |
18: 77,103,719 (GRCm39) |
R104L |
probably benign |
Het |
| Kcng4 |
G |
T |
8: 120,352,947 (GRCm39) |
P321Q |
probably benign |
Het |
| Larp4b |
T |
C |
13: 9,187,339 (GRCm39) |
|
probably null |
Het |
| Lars1 |
T |
C |
18: 42,345,673 (GRCm39) |
N1001S |
probably benign |
Het |
| Lhcgr |
T |
A |
17: 89,072,604 (GRCm39) |
I148F |
probably damaging |
Het |
| Lsm10 |
T |
A |
4: 125,991,756 (GRCm39) |
S37R |
possibly damaging |
Het |
| Mfsd13a |
A |
G |
19: 46,360,619 (GRCm39) |
|
probably null |
Het |
| Mipep |
T |
A |
14: 61,080,689 (GRCm39) |
C560* |
probably null |
Het |
| Mme |
G |
A |
3: 63,235,467 (GRCm39) |
D172N |
probably benign |
Het |
| Mme |
A |
G |
3: 63,235,404 (GRCm39) |
S97G |
probably benign |
Het |
| Mtrex |
A |
T |
13: 113,009,461 (GRCm39) |
H979Q |
probably benign |
Het |
| Mx1 |
A |
T |
16: 97,249,403 (GRCm39) |
L608Q |
probably damaging |
Het |
| Myt1l |
T |
C |
12: 29,901,660 (GRCm39) |
M208T |
probably benign |
Het |
| Neb |
T |
C |
2: 52,118,554 (GRCm39) |
I3987V |
probably damaging |
Het |
| Nelfcd |
A |
G |
2: 174,265,771 (GRCm39) |
|
probably null |
Het |
| Neto1 |
T |
C |
18: 86,414,009 (GRCm39) |
M1T |
probably null |
Het |
| Nom1 |
T |
C |
5: 29,651,876 (GRCm39) |
F738S |
possibly damaging |
Het |
| Or10v1 |
C |
A |
19: 11,874,249 (GRCm39) |
P288H |
probably damaging |
Het |
| Or4f61 |
C |
A |
2: 111,922,192 (GRCm39) |
V285L |
probably benign |
Het |
| Or51h5 |
C |
T |
7: 102,577,648 (GRCm39) |
S271L |
probably damaging |
Het |
| Or5b123 |
C |
T |
19: 13,596,967 (GRCm39) |
S147F |
probably damaging |
Het |
| Or5w14 |
T |
C |
2: 87,541,317 (GRCm39) |
|
probably null |
Het |
| Or6c203 |
T |
C |
10: 129,010,197 (GRCm39) |
K231R |
probably benign |
Het |
| Or6f2 |
T |
A |
7: 139,756,474 (GRCm39) |
L147* |
probably null |
Het |
| Or9m1b |
T |
G |
2: 87,836,865 (GRCm39) |
I86L |
probably damaging |
Het |
| Pak1ip1 |
A |
G |
13: 41,164,708 (GRCm39) |
T264A |
possibly damaging |
Het |
| Palb2 |
G |
T |
7: 121,713,537 (GRCm39) |
D915E |
possibly damaging |
Het |
| Pank4 |
T |
C |
4: 155,060,816 (GRCm39) |
L491P |
probably damaging |
Het |
| Paqr7 |
T |
C |
4: 134,234,980 (GRCm39) |
V279A |
probably benign |
Het |
| Pcif1 |
G |
A |
2: 164,730,386 (GRCm39) |
R373Q |
probably damaging |
Het |
| Pdgfa |
T |
A |
5: 138,964,927 (GRCm39) |
N185I |
probably benign |
Het |
| Plcd4 |
T |
C |
1: 74,588,520 (GRCm39) |
V123A |
possibly damaging |
Het |
| Pramel26 |
T |
C |
4: 143,539,396 (GRCm39) |
I32M |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,176,503 (GRCm39) |
I154V |
probably damaging |
Het |
| Rac3 |
T |
G |
11: 120,614,320 (GRCm39) |
L148R |
possibly damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,533,637 (GRCm39) |
D362E |
probably benign |
Het |
| Rbl1 |
A |
G |
2: 157,016,823 (GRCm39) |
I592T |
probably benign |
Het |
| Rbl2 |
A |
C |
8: 91,822,191 (GRCm39) |
D408A |
possibly damaging |
Het |
| Retreg2 |
A |
G |
1: 75,123,319 (GRCm39) |
K416E |
probably benign |
Het |
| Rorb |
A |
T |
19: 18,939,447 (GRCm39) |
L234H |
probably damaging |
Het |
| Rpp40 |
T |
G |
13: 36,080,897 (GRCm39) |
D279A |
probably benign |
Het |
| Siglec1 |
C |
A |
2: 130,923,420 (GRCm39) |
V442L |
probably damaging |
Het |
| Sik3 |
C |
G |
9: 46,132,387 (GRCm39) |
H1276Q |
probably benign |
Het |
| Slc25a34 |
G |
A |
4: 141,349,579 (GRCm39) |
T192I |
probably benign |
Het |
| Sp140l1 |
G |
A |
1: 85,062,852 (GRCm39) |
|
probably benign |
Het |
| Sptbn5 |
T |
C |
2: 119,902,125 (GRCm39) |
I126M |
possibly damaging |
Het |
| Strada |
A |
G |
11: 106,062,047 (GRCm39) |
V94A |
possibly damaging |
Het |
| Stxbp5 |
C |
A |
10: 9,688,042 (GRCm39) |
V420F |
possibly damaging |
Het |
| Tgm1 |
T |
C |
14: 55,942,398 (GRCm39) |
Y651C |
probably damaging |
Het |
| Tmem200c |
T |
A |
17: 69,147,612 (GRCm39) |
V65E |
probably damaging |
Het |
| Tmem74 |
A |
T |
15: 43,730,559 (GRCm39) |
D161E |
probably benign |
Het |
| Trgc3 |
A |
T |
13: 19,445,261 (GRCm39) |
M70L |
probably damaging |
Het |
| Vcan |
T |
G |
13: 89,853,511 (GRCm39) |
E483A |
probably damaging |
Het |
| Vmn2r124 |
A |
G |
17: 18,283,436 (GRCm39) |
T377A |
probably benign |
Het |
| Vmn2r3 |
A |
C |
3: 64,166,815 (GRCm39) |
I772S |
probably damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,063,242 (GRCm39) |
V1342A |
probably benign |
Het |
| Zfp507 |
T |
C |
7: 35,487,176 (GRCm39) |
H764R |
probably damaging |
Het |
| Znrf3 |
A |
G |
11: 5,237,455 (GRCm39) |
I218T |
possibly damaging |
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 |
|
R1929:Itpr1
|
UTSW |
6 |
108,470,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2012:Itpr1
|
UTSW |
6 |
108,417,497 (GRCm39) |
missense |
probably benign |
0.02 |
|
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'- GCTGACCCTTACTCTGGCATAC -3'
(R):5'- CAGACTTACTCATCAATGGCGATC -3'
Sequencing Primer
(F):5'- GACCCTTACTCTGGCATACTATAAAC -3'
(R):5'- CGATCTCAGAGGGAATTTCTGACC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation