Incidental Mutation 'IGL02420:Itprid2'
| ID |
292646 |
| 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 # |
IGL02420
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
79465696-79503310 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79465986 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 35
(S35P)
|
| 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: S35P
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107414
Gene: ENSMUSG00000027007
AA Change: S35P
| 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: S35P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107415
Gene: ENSMUSG00000027007
AA Change: S35P
| 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: S35P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107418
Gene: ENSMUSG00000027007
AA Change: S35P
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
A |
G |
17: 57,187,494 (GRCm39) |
N136S |
probably damaging |
Het |
| Adcy8 |
A |
G |
15: 64,659,303 (GRCm39) |
S496P |
probably damaging |
Het |
| Agbl3 |
T |
A |
6: 34,762,242 (GRCm39) |
S81T |
possibly damaging |
Het |
| Apobec1 |
A |
T |
6: 122,558,531 (GRCm39) |
Y75N |
probably benign |
Het |
| Asic2 |
A |
G |
11: 80,772,479 (GRCm39) |
L517P |
probably benign |
Het |
| Atp8a1 |
A |
G |
5: 67,840,126 (GRCm39) |
S752P |
probably damaging |
Het |
| Blm |
T |
C |
7: 80,145,754 (GRCm39) |
Y775C |
probably damaging |
Het |
| C1qtnf5 |
T |
C |
9: 44,019,901 (GRCm39) |
I175T |
probably benign |
Het |
| Ccdc81 |
G |
A |
7: 89,524,946 (GRCm39) |
T545I |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,834,317 (GRCm39) |
E174G |
probably damaging |
Het |
| Chl1 |
G |
A |
6: 103,692,330 (GRCm39) |
V1066M |
probably damaging |
Het |
| Cntn6 |
T |
A |
6: 104,823,103 (GRCm39) |
|
probably null |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyren |
T |
C |
6: 34,851,404 (GRCm39) |
Y150C |
probably damaging |
Het |
| Cysrt1 |
T |
C |
2: 25,129,360 (GRCm39) |
I51V |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,725,702 (GRCm39) |
N69S |
probably benign |
Het |
| Fam83d |
T |
C |
2: 158,627,655 (GRCm39) |
L448P |
probably benign |
Het |
| Gm9631 |
G |
A |
11: 121,834,478 (GRCm39) |
|
|
Het |
| Hmcn1 |
T |
C |
1: 150,598,175 (GRCm39) |
Y1709C |
probably damaging |
Het |
| Inppl1 |
G |
A |
7: 101,481,526 (GRCm39) |
|
probably benign |
Het |
| Iqcc |
T |
C |
4: 129,510,748 (GRCm39) |
T256A |
probably benign |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Lyz1 |
A |
T |
10: 117,124,535 (GRCm39) |
C134S |
probably damaging |
Het |
| Mpzl3 |
T |
C |
9: 44,977,815 (GRCm39) |
I141T |
possibly damaging |
Het |
| Mterf1a |
T |
C |
5: 3,941,047 (GRCm39) |
N274D |
probably damaging |
Het |
| Myo18a |
T |
A |
11: 77,709,519 (GRCm39) |
V543D |
possibly damaging |
Het |
| Myo18b |
A |
T |
5: 112,975,852 (GRCm39) |
D1332E |
possibly damaging |
Het |
| Or2r11 |
A |
G |
6: 42,437,110 (GRCm39) |
V281A |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,138,938 (GRCm39) |
D333V |
probably damaging |
Het |
| Plekha7 |
A |
G |
7: 115,757,469 (GRCm39) |
Y494H |
probably damaging |
Het |
| Plekhg1 |
A |
G |
10: 3,914,106 (GRCm39) |
N1276S |
probably damaging |
Het |
| Ppig |
T |
C |
2: 69,562,571 (GRCm39) |
V5A |
probably benign |
Het |
| Prag1 |
A |
T |
8: 36,614,580 (GRCm39) |
|
probably benign |
Het |
| Prom1 |
T |
C |
5: 44,220,496 (GRCm39) |
N84S |
probably benign |
Het |
| Ptprh |
T |
A |
7: 4,583,929 (GRCm39) |
Y221F |
probably damaging |
Het |
| Qsox2 |
A |
G |
2: 26,110,731 (GRCm39) |
Y162H |
probably benign |
Het |
| Rab2a |
C |
T |
4: 8,572,553 (GRCm39) |
T49M |
possibly damaging |
Het |
| Ring1 |
A |
G |
17: 34,242,122 (GRCm39) |
S96P |
possibly damaging |
Het |
| Ripk3 |
A |
G |
14: 56,022,691 (GRCm39) |
F411S |
probably benign |
Het |
| Rock1 |
T |
C |
18: 10,070,619 (GRCm39) |
|
probably null |
Het |
| Rtn4rl1 |
A |
G |
11: 75,156,645 (GRCm39) |
N359S |
probably damaging |
Het |
| Sufu |
A |
G |
19: 46,413,481 (GRCm39) |
T76A |
probably damaging |
Het |
| Sugct |
C |
A |
13: 17,627,053 (GRCm39) |
V267F |
probably damaging |
Het |
| Tcf4 |
A |
T |
18: 69,697,210 (GRCm39) |
R29W |
probably damaging |
Het |
| Tnfsf18 |
A |
T |
1: 161,331,158 (GRCm39) |
I103L |
probably benign |
Het |
| Vwf |
A |
G |
6: 125,654,879 (GRCm39) |
E2525G |
probably benign |
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 |
|
IGL01682:Itprid2
|
APN |
2 |
79,465,981 (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 |
|
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 |
2015-04-16 |
Incidental Mutation