Incidental Mutation 'R0526:Itprid2'
ID 48892
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 038719-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.493) question?
Stock # R0526 (G1)
Quality Score 192
Status Not validated
Chromosome 2
Chromosomal Location 79465696-79503310 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79487690 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 591 (D591G)
Ref Sequence ENSEMBL: ENSMUSP00000107415 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111784] [ENSMUST00000111785] [ENSMUST00000111788]
AlphaFold Q922B9
Predicted Effect probably benign
Transcript: ENSMUST00000111784
AA Change: D591G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000107414
Gene: ENSMUSG00000027007
AA Change: D591G

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 benign
Transcript: ENSMUST00000111785
AA Change: D591G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000107415
Gene: ENSMUSG00000027007
AA Change: D591G

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 benign
Transcript: ENSMUST00000111788
AA Change: D591G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000107418
Gene: ENSMUSG00000027007
AA Change: D591G

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: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 92.0%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik A T 4: 137,182,535 (GRCm39) N230I possibly damaging Het
4933427D14Rik G T 11: 72,060,609 (GRCm39) Q687K probably damaging Het
Actrt2 A G 4: 154,751,869 (GRCm39) L89P probably damaging Het
Adamts1 A C 16: 85,599,260 (GRCm39) S113R probably benign Het
Agxt2 G T 15: 10,373,948 (GRCm39) C118F probably damaging Het
Akap8 G A 17: 32,536,266 (GRCm39) T49I probably benign Het
Alk A T 17: 72,176,748 (GRCm39) W1519R probably damaging Het
Atf7ip T A 6: 136,536,803 (GRCm39) F12Y probably damaging Het
Atp13a5 A G 16: 29,167,558 (GRCm39) C131R probably damaging Het
Atp8b4 A G 2: 126,269,283 (GRCm39) L168P probably damaging Het
Blm G T 7: 80,155,641 (GRCm39) S346* probably null Het
Ccnt2 T G 1: 127,727,182 (GRCm39) C199G probably damaging Het
Cd151 A T 7: 141,050,504 (GRCm39) H219L probably damaging Het
Cd200r2 A T 16: 44,735,410 (GRCm39) R248S probably damaging Het
Cdh3 A G 8: 107,282,078 (GRCm39) D822G possibly damaging Het
Clec4b1 T C 6: 123,046,729 (GRCm39) probably null Het
Cluh C A 11: 74,556,812 (GRCm39) L951I probably benign Het
Cog7 A T 7: 121,562,494 (GRCm39) probably null Het
Col25a1 C A 3: 130,270,043 (GRCm39) P197Q probably damaging Het
Csde1 T A 3: 102,963,742 (GRCm39) S636R possibly damaging Het
Ect2l C A 10: 18,075,688 (GRCm39) C66F possibly damaging Het
Elac2 T C 11: 64,890,262 (GRCm39) M671T probably benign Het
Evi5 T C 5: 107,969,614 (GRCm39) N143S probably benign Het
Ext2 A G 2: 93,636,430 (GRCm39) V228A probably damaging Het
Fbxo38 A G 18: 62,639,051 (GRCm39) Y1084H probably damaging Het
Fcgr4 T A 1: 170,856,760 (GRCm39) L209Q probably damaging Het
Fgd3 C T 13: 49,450,000 (GRCm39) S83N probably benign Het
Gigyf2 T A 1: 87,349,215 (GRCm39) M664K probably benign Het
Il27ra A T 8: 84,766,128 (GRCm39) S219T probably benign Het
Kif15 T C 9: 122,826,862 (GRCm39) V800A probably damaging Het
Lmo7 T A 14: 102,137,996 (GRCm39) D666E probably damaging Het
Lrp5 T C 19: 3,678,295 (GRCm39) D520G probably damaging Het
Lrriq3 T A 3: 154,893,934 (GRCm39) M545K probably benign Het
Lsm5 T A 6: 56,680,310 (GRCm39) D44V probably damaging Het
Man1c1 G T 4: 134,296,379 (GRCm39) Y430* probably null Het
Map4 T A 9: 109,866,346 (GRCm39) probably null Het
Megf6 A G 4: 154,343,398 (GRCm39) K561R probably benign Het
Myo1e T C 9: 70,229,680 (GRCm39) Y173H probably damaging Het
Myo6 T A 9: 80,190,823 (GRCm39) S791R possibly damaging Het
Nol11 C A 11: 107,075,597 (GRCm39) E144* probably null Het
Ntng2 C T 2: 29,087,074 (GRCm39) R416Q probably damaging Het
Nxpe3 T A 16: 55,686,880 (GRCm39) I43F possibly damaging Het
Or4g17 T A 2: 111,209,837 (GRCm39) V164E possibly damaging Het
Or5t5 A T 2: 86,616,691 (GRCm39) T206S possibly damaging Het
Pkd1l2 T C 8: 117,808,999 (GRCm39) I64V probably damaging Het
Prf1 G A 10: 61,136,033 (GRCm39) R103H probably benign Het
Rest A G 5: 77,428,874 (GRCm39) D431G probably damaging Het
Serpina10 A T 12: 103,583,127 (GRCm39) L439Q probably damaging Het
Sgk3 T G 1: 9,951,804 (GRCm39) V176G probably damaging Het
Slc19a3 A G 1: 83,000,454 (GRCm39) S188P probably damaging Het
Sorbs1 A G 19: 40,338,392 (GRCm39) I336T probably damaging Het
Strip1 C T 3: 107,527,355 (GRCm39) probably null Het
Syt4 T C 18: 31,576,799 (GRCm39) E185G possibly damaging Het
Tcaf3 T A 6: 42,566,738 (GRCm39) I784F probably damaging Het
Tgfbr3l G T 8: 4,299,439 (GRCm39) R74L possibly damaging Het
Thoc7 A G 14: 13,949,282 (GRCm38) M194T probably benign Het
Thsd7b T C 1: 129,879,129 (GRCm39) Y989H probably damaging Het
Tmem156 C T 5: 65,233,161 (GRCm39) V134I probably benign Het
Tnks A T 8: 35,320,457 (GRCm39) V738E probably benign Het
Trpm6 A T 19: 18,770,240 (GRCm39) I342F probably damaging Het
Vmn2r69 A T 7: 85,060,711 (GRCm39) V291D probably damaging Het
Wdr59 GGGTGGTG GGGTG 8: 112,207,172 (GRCm39) probably benign Het
Wnk1 T C 6: 119,928,953 (GRCm39) T1292A probably damaging Het
Yes1 T A 5: 32,812,584 (GRCm39) C285S probably benign Het
Zbed6 T C 1: 133,586,472 (GRCm39) I288M probably damaging Het
Zbtb49 T C 5: 38,371,263 (GRCm39) N206S probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TGAAACCACCGTCACATCGCTTG -3'
(R):5'- CACTCTGTCCACAGAAGAGGGAAAC -3'

Sequencing Primer
(F):5'- TCACATCGCTTGGTGAGGAC -3'
(R):5'- GGTGTACTGGGCAAATTCACATTC -3'
Posted On 2013-06-12