Incidental Mutation 'IGL01682:Itprid2'
ID |
103846 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Itprid2
|
Ensembl Gene |
ENSMUSG00000027007 |
Gene Name |
ITPR interacting domain containing 2 |
Synonyms |
Ssfa2, CS1, CS-1, SPAG13, KRAP |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.493)
|
Stock # |
IGL01682
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
79465696-79503310 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 79465981 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 33
(Q33R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107418
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111784]
[ENSMUST00000111785]
[ENSMUST00000111788]
|
AlphaFold |
Q922B9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111784
AA Change: Q33R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000107414 Gene: ENSMUSG00000027007 AA Change: Q33R
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
57 |
N/A |
INTRINSIC |
KRAP_IP3R_bind
|
144 |
302 |
6.78e-81 |
SMART |
low complexity region
|
357 |
374 |
N/A |
INTRINSIC |
low complexity region
|
423 |
445 |
N/A |
INTRINSIC |
low complexity region
|
743 |
759 |
N/A |
INTRINSIC |
Pfam:SSFA2_C
|
858 |
1029 |
7.5e-88 |
PFAM |
low complexity region
|
1081 |
1095 |
N/A |
INTRINSIC |
low complexity region
|
1144 |
1156 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111785
AA Change: Q33R
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000107415 Gene: ENSMUSG00000027007 AA Change: Q33R
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
57 |
N/A |
INTRINSIC |
KRAP_IP3R_bind
|
144 |
302 |
6.78e-81 |
SMART |
low complexity region
|
357 |
374 |
N/A |
INTRINSIC |
low complexity region
|
423 |
445 |
N/A |
INTRINSIC |
low complexity region
|
743 |
759 |
N/A |
INTRINSIC |
Pfam:SSFA2_C
|
861 |
1029 |
8.9e-83 |
PFAM |
low complexity region
|
1103 |
1117 |
N/A |
INTRINSIC |
low complexity region
|
1166 |
1178 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111788
AA Change: Q33R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000107418 Gene: ENSMUSG00000027007 AA Change: Q33R
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
57 |
N/A |
INTRINSIC |
KRAP_IP3R_bind
|
144 |
302 |
6.78e-81 |
SMART |
low complexity region
|
357 |
374 |
N/A |
INTRINSIC |
low complexity region
|
423 |
445 |
N/A |
INTRINSIC |
low complexity region
|
743 |
759 |
N/A |
INTRINSIC |
Pfam:SSFA2_C
|
858 |
1029 |
7.4e-88 |
PFAM |
low complexity region
|
1103 |
1117 |
N/A |
INTRINSIC |
low complexity region
|
1166 |
1178 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124938
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133266
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation display decreased body weight, resistance to diet induced obesity, increased food intake, decreased adipose tissue mass, elevated metabolic rate, abnormal glucose homeostasis, and abnormal hormone levels. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agmo |
T |
C |
12: 37,407,626 (GRCm39) |
|
probably benign |
Het |
Atp2c1 |
C |
T |
9: 105,330,041 (GRCm39) |
G93D |
probably damaging |
Het |
C2cd6 |
T |
G |
1: 59,101,660 (GRCm39) |
Y333S |
probably damaging |
Het |
Cacna1a |
A |
G |
8: 85,263,067 (GRCm39) |
E414G |
possibly damaging |
Het |
Capn10 |
C |
A |
1: 92,868,106 (GRCm39) |
T191K |
probably benign |
Het |
Cd226 |
A |
T |
18: 89,287,187 (GRCm39) |
R328S |
probably damaging |
Het |
Cdk10 |
A |
G |
8: 123,954,397 (GRCm39) |
|
probably null |
Het |
Cyp4a31 |
T |
A |
4: 115,435,228 (GRCm39) |
V486D |
probably damaging |
Het |
Dgke |
A |
T |
11: 88,943,267 (GRCm39) |
L241I |
probably damaging |
Het |
Dnah6 |
G |
T |
6: 73,052,785 (GRCm39) |
A2965E |
probably damaging |
Het |
Fbn2 |
A |
T |
18: 58,205,743 (GRCm39) |
C1112S |
probably damaging |
Het |
Gm10228 |
T |
A |
16: 88,838,073 (GRCm39) |
Y77F |
unknown |
Het |
Gng3 |
T |
C |
19: 8,815,944 (GRCm39) |
I25V |
probably benign |
Het |
Gramd2a |
A |
G |
9: 59,619,393 (GRCm39) |
I61M |
possibly damaging |
Het |
Hcar2 |
T |
C |
5: 124,002,582 (GRCm39) |
N307S |
probably benign |
Het |
Iars1 |
G |
A |
13: 49,863,134 (GRCm39) |
E529K |
probably damaging |
Het |
Ilvbl |
C |
T |
10: 78,412,941 (GRCm39) |
|
probably benign |
Het |
Lrp1 |
T |
C |
10: 127,410,847 (GRCm39) |
K1447R |
probably benign |
Het |
Mmp20 |
A |
G |
9: 7,671,376 (GRCm39) |
D426G |
probably benign |
Het |
Muc4 |
G |
A |
16: 32,754,086 (GRCm38) |
G1321R |
probably benign |
Het |
Or4f4b |
G |
A |
2: 111,314,188 (GRCm39) |
G138S |
probably damaging |
Het |
Or51f2 |
C |
T |
7: 102,526,440 (GRCm39) |
L38F |
probably benign |
Het |
Pip4k2a |
A |
G |
2: 19,002,779 (GRCm39) |
S10P |
probably benign |
Het |
Pth1r |
A |
T |
9: 110,552,774 (GRCm39) |
|
probably null |
Het |
Rprd1b |
T |
C |
2: 157,892,080 (GRCm39) |
I201T |
probably damaging |
Het |
Rsbn1 |
A |
G |
3: 103,869,696 (GRCm39) |
N719S |
probably benign |
Het |
Sorcs1 |
C |
T |
19: 50,169,944 (GRCm39) |
G939E |
probably benign |
Het |
St8sia5 |
A |
G |
18: 77,336,196 (GRCm39) |
K210E |
probably damaging |
Het |
Trav3-1 |
G |
A |
14: 52,818,649 (GRCm39) |
V108M |
probably benign |
Het |
Washc4 |
T |
C |
10: 83,416,170 (GRCm39) |
I820T |
possibly damaging |
Het |
|
Other mutations in Itprid2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00785:Itprid2
|
APN |
2 |
79,487,612 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL00792:Itprid2
|
APN |
2 |
79,487,807 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00900:Itprid2
|
APN |
2 |
79,490,822 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00902:Itprid2
|
APN |
2 |
79,490,822 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01683:Itprid2
|
APN |
2 |
79,501,069 (GRCm39) |
intron |
probably benign |
|
IGL01832:Itprid2
|
APN |
2 |
79,481,762 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02253:Itprid2
|
APN |
2 |
79,490,788 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02342:Itprid2
|
APN |
2 |
79,490,629 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02420:Itprid2
|
APN |
2 |
79,465,986 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02445:Itprid2
|
APN |
2 |
79,487,842 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02649:Itprid2
|
APN |
2 |
79,472,303 (GRCm39) |
splice site |
probably benign |
|
IGL03242:Itprid2
|
APN |
2 |
79,473,815 (GRCm39) |
nonsense |
probably null |
|
IGL03266:Itprid2
|
APN |
2 |
79,472,534 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03342:Itprid2
|
APN |
2 |
79,490,796 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03352:Itprid2
|
APN |
2 |
79,475,445 (GRCm39) |
missense |
probably damaging |
1.00 |
R0255:Itprid2
|
UTSW |
2 |
79,490,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R0526:Itprid2
|
UTSW |
2 |
79,487,690 (GRCm39) |
missense |
probably benign |
0.01 |
R0543:Itprid2
|
UTSW |
2 |
79,474,850 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1114:Itprid2
|
UTSW |
2 |
79,487,873 (GRCm39) |
missense |
probably damaging |
1.00 |
R1701:Itprid2
|
UTSW |
2 |
79,466,394 (GRCm39) |
missense |
probably damaging |
1.00 |
R1734:Itprid2
|
UTSW |
2 |
79,488,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R1945:Itprid2
|
UTSW |
2 |
79,492,996 (GRCm39) |
missense |
probably benign |
0.03 |
R2188:Itprid2
|
UTSW |
2 |
79,475,267 (GRCm39) |
missense |
probably benign |
0.01 |
R2941:Itprid2
|
UTSW |
2 |
79,466,000 (GRCm39) |
missense |
probably benign |
0.19 |
R4087:Itprid2
|
UTSW |
2 |
79,488,691 (GRCm39) |
nonsense |
probably null |
|
R4107:Itprid2
|
UTSW |
2 |
79,475,175 (GRCm39) |
missense |
probably damaging |
0.97 |
R4355:Itprid2
|
UTSW |
2 |
79,472,342 (GRCm39) |
missense |
probably benign |
0.02 |
R4497:Itprid2
|
UTSW |
2 |
79,488,164 (GRCm39) |
missense |
probably damaging |
1.00 |
R4615:Itprid2
|
UTSW |
2 |
79,492,726 (GRCm39) |
missense |
probably damaging |
0.99 |
R4726:Itprid2
|
UTSW |
2 |
79,493,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R5818:Itprid2
|
UTSW |
2 |
79,474,937 (GRCm39) |
missense |
probably damaging |
1.00 |
R5889:Itprid2
|
UTSW |
2 |
79,488,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R6169:Itprid2
|
UTSW |
2 |
79,475,406 (GRCm39) |
missense |
probably damaging |
0.99 |
R6337:Itprid2
|
UTSW |
2 |
79,485,463 (GRCm39) |
missense |
probably damaging |
1.00 |
R6677:Itprid2
|
UTSW |
2 |
79,485,445 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6709:Itprid2
|
UTSW |
2 |
79,475,276 (GRCm39) |
missense |
probably benign |
0.00 |
R6855:Itprid2
|
UTSW |
2 |
79,488,049 (GRCm39) |
missense |
probably damaging |
1.00 |
R6856:Itprid2
|
UTSW |
2 |
79,488,049 (GRCm39) |
missense |
probably damaging |
1.00 |
R7075:Itprid2
|
UTSW |
2 |
79,466,004 (GRCm39) |
missense |
probably damaging |
0.99 |
R7319:Itprid2
|
UTSW |
2 |
79,466,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R7414:Itprid2
|
UTSW |
2 |
79,475,072 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7590:Itprid2
|
UTSW |
2 |
79,488,454 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7722:Itprid2
|
UTSW |
2 |
79,492,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R7923:Itprid2
|
UTSW |
2 |
79,492,959 (GRCm39) |
nonsense |
probably null |
|
R8155:Itprid2
|
UTSW |
2 |
79,475,177 (GRCm39) |
missense |
probably benign |
0.01 |
R8175:Itprid2
|
UTSW |
2 |
79,488,496 (GRCm39) |
missense |
probably damaging |
1.00 |
R8237:Itprid2
|
UTSW |
2 |
79,487,614 (GRCm39) |
missense |
probably benign |
0.01 |
R8341:Itprid2
|
UTSW |
2 |
79,488,062 (GRCm39) |
missense |
probably damaging |
1.00 |
R8353:Itprid2
|
UTSW |
2 |
79,475,129 (GRCm39) |
missense |
probably benign |
0.01 |
R8364:Itprid2
|
UTSW |
2 |
79,481,787 (GRCm39) |
missense |
probably damaging |
0.99 |
R8365:Itprid2
|
UTSW |
2 |
79,492,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R8453:Itprid2
|
UTSW |
2 |
79,475,129 (GRCm39) |
missense |
probably benign |
0.01 |
R8507:Itprid2
|
UTSW |
2 |
79,475,208 (GRCm39) |
missense |
probably benign |
|
R8874:Itprid2
|
UTSW |
2 |
79,487,684 (GRCm39) |
missense |
probably benign |
|
R8953:Itprid2
|
UTSW |
2 |
79,490,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R8978:Itprid2
|
UTSW |
2 |
79,491,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R9033:Itprid2
|
UTSW |
2 |
79,465,938 (GRCm39) |
missense |
probably damaging |
0.97 |
R9067:Itprid2
|
UTSW |
2 |
79,475,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2014-01-21 |