Incidental Mutation 'R4615:Itprid2'
ID 345000
Institutional Source Beutler Lab
Gene Symbol Itprid2
Ensembl Gene ENSMUSG00000027007
Gene Name ITPR interacting domain containing 2
Synonyms Ssfa2, CS1, CS-1, SPAG13, KRAP
MMRRC Submission 041826-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.493) question?
Stock # R4615 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 79465696-79503310 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79492726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1091 (E1091G)
Ref Sequence ENSEMBL: ENSMUSP00000107415 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111784] [ENSMUST00000111785] [ENSMUST00000111788]
AlphaFold Q922B9
Predicted Effect possibly damaging
Transcript: ENSMUST00000111784
AA Change: E1069G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107414
Gene: ENSMUSG00000027007
AA Change: E1069G

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: E1091G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107415
Gene: ENSMUSG00000027007
AA Change: E1091G

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: E1091G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107418
Gene: ENSMUSG00000027007
AA Change: E1091G

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: ENSMUST00000133266
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,369,493 (GRCm39) I363V probably benign Het
Abcc9 C G 6: 142,634,833 (GRCm39) A144P possibly damaging Het
Adgrv1 C T 13: 81,642,688 (GRCm39) probably null Het
Adprhl1 A G 8: 13,292,250 (GRCm39) probably null Het
Angptl3 A T 4: 98,919,598 (GRCm39) E119D probably benign Het
Atp8b1 T C 18: 64,686,170 (GRCm39) N671S probably null Het
C9 A G 15: 6,520,944 (GRCm39) D51G probably damaging Het
Carmil2 A G 8: 106,421,706 (GRCm39) D1019G possibly damaging Het
Cdh8 A T 8: 100,006,254 (GRCm39) I111K probably damaging Het
Cep120 T C 18: 53,847,913 (GRCm39) R649G probably damaging Het
Clptm1l A T 13: 73,755,857 (GRCm39) K158* probably null Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Cnga1 A C 5: 72,762,117 (GRCm39) L466V probably damaging Het
Cpsf1 T C 15: 76,481,137 (GRCm39) T1240A possibly damaging Het
Cubn A G 2: 13,433,560 (GRCm39) S1117P probably damaging Het
Cyp2b9 T A 7: 25,900,550 (GRCm39) L396Q probably damaging Het
Cyp8b1 A T 9: 121,745,164 (GRCm39) L56* probably null Het
Dcbld2 A G 16: 58,276,457 (GRCm39) T458A probably benign Het
Dio2 G T 12: 90,696,595 (GRCm39) P131Q probably damaging Het
Dlg5 T C 14: 24,208,236 (GRCm39) Y990C probably damaging Het
Dsc3 T C 18: 20,104,545 (GRCm39) D594G possibly damaging Het
Dsp A G 13: 38,375,608 (GRCm39) E1131G probably damaging Het
Fdx1 A T 9: 51,859,945 (GRCm39) Y21* probably null Het
Gal3st4 A G 5: 138,264,525 (GRCm39) V158A probably damaging Het
Gm10269 T A 18: 20,815,820 (GRCm39) E67D probably benign Het
Gm5773 A G 3: 93,681,339 (GRCm39) H337R probably benign Het
Gng2 C T 14: 19,941,395 (GRCm39) V16I possibly damaging Het
Gpr20 T C 15: 73,567,585 (GRCm39) N268S probably benign Het
Ighv1-82 T C 12: 115,916,280 (GRCm39) T77A probably benign Het
Lama2 C A 10: 26,857,520 (GRCm39) V3110F probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mtmr4 T C 11: 87,501,761 (GRCm39) L548S probably damaging Het
Ncapg A T 5: 45,844,741 (GRCm39) M579L probably benign Het
Oog3 A T 4: 143,884,899 (GRCm39) Y346N probably benign Het
Or10ak14 T C 4: 118,611,334 (GRCm39) T134A probably benign Het
Or14c39 T C 7: 86,343,936 (GRCm39) S91P probably damaging Het
Orm2 A G 4: 63,281,536 (GRCm39) D89G probably damaging Het
Pcdhb4 T A 18: 37,441,553 (GRCm39) S288T probably benign Het
Pcsk2 G T 2: 143,637,889 (GRCm39) C375F probably damaging Het
Pdcd10 T C 3: 75,428,398 (GRCm39) I138M probably damaging Het
Pde8a T C 7: 80,970,485 (GRCm39) W536R probably damaging Het
Phkg2 C T 7: 127,176,792 (GRCm39) R61W probably damaging Het
Plcl1 A T 1: 55,737,293 (GRCm39) N878I probably benign Het
Prkdc A T 16: 15,480,938 (GRCm39) D353V probably damaging Het
Psme4 C T 11: 30,784,287 (GRCm39) T954I probably benign Het
Ran A G 5: 129,099,162 (GRCm39) I115V probably benign Het
Reln A G 5: 22,177,870 (GRCm39) L1867P possibly damaging Het
S100a1 A G 3: 90,418,562 (GRCm39) V84A possibly damaging Het
Sall2 G A 14: 52,550,207 (GRCm39) P994L probably benign Het
Shtn1 A T 19: 59,010,648 (GRCm39) I273N probably benign Het
Slc17a9 T C 2: 180,373,699 (GRCm39) I40T probably benign Het
Slc29a2 T C 19: 5,079,292 (GRCm39) V305A probably damaging Het
Taar2 T A 10: 23,817,263 (GRCm39) F268I probably benign Het
Taf3 G A 2: 9,956,901 (GRCm39) T422I probably damaging Het
Tgs1 T C 4: 3,585,156 (GRCm39) F99L probably damaging Het
Tox2 T C 2: 163,162,567 (GRCm39) L479P probably damaging Het
Ttn A G 2: 76,597,219 (GRCm39) I19898T probably damaging Het
Ulk1 G T 5: 110,936,912 (GRCm39) T3N probably damaging Het
Vars1 A T 17: 35,232,857 (GRCm39) K900N probably damaging Het
Vmn2r15 A G 5: 109,441,348 (GRCm39) V170A possibly damaging Het
Vmn2r53 A T 7: 12,316,229 (GRCm39) L530Q probably damaging Het
Zar1l G T 5: 150,441,528 (GRCm39) Q33K probably benign Het
Zdhhc16 T C 19: 41,932,122 (GRCm39) V358A 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
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
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
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
Predicted Primers PCR Primer
(F):5'- CCAGGGTATGGCTTGAGATTAC -3'
(R):5'- CCACAGAGGCTCGGAATATC -3'

Sequencing Primer
(F):5'- GTGTGTGTGAATAAAATTGACCAGC -3'
(R):5'- ACAGAGGCTCGGAATATCTTCTTTC -3'
Posted On 2015-09-25