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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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