Incidental Mutation 'R1574:Irag2'
ID 202718
Institutional Source Beutler Lab
Gene Symbol Irag2
Ensembl Gene ENSMUSG00000030263
Gene Name inositol 1,4,5-triphosphate receptor associated 2
Synonyms Jaw1, Lrmp, D6Int7, D6Int8, D6Int5, D6Int4, D6Int3
MMRRC Submission 045014-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1574 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 145061379-145120660 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to G at 145104356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000032396] [ENSMUST00000135984] [ENSMUST00000152571]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000032396
SMART Domains Protein: ENSMUSP00000032396
Gene: ENSMUSG00000030263

DomainStartEndE-ValueType
Pfam:MRVI1 10 539 3.2e-265 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125029
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132937
Predicted Effect probably benign
Transcript: ENSMUST00000132948
SMART Domains Protein: ENSMUSP00000120248
Gene: ENSMUSG00000030263

DomainStartEndE-ValueType
Pfam:MRVI1 8 504 3.7e-248 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135984
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143631
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149244
Predicted Effect probably benign
Transcript: ENSMUST00000152571
SMART Domains Protein: ENSMUSP00000120166
Gene: ENSMUSG00000030263

DomainStartEndE-ValueType
Pfam:MRVI1 9 198 2.2e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156849
SMART Domains Protein: ENSMUSP00000115043
Gene: ENSMUSG00000030263

DomainStartEndE-ValueType
Pfam:MRVI1 9 196 1.2e-74 PFAM
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.5%
  • 20x: 93.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encode dby this gene is expressed in a developmentally regulated manner in lymphoid cell lines and tissues. The protein is localized to the cytoplasmic face of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 T A 5: 81,935,296 (GRCm39) N1276K probably damaging Het
Als2cl A G 9: 110,713,128 (GRCm39) E6G probably damaging Het
Ankrd12 A T 17: 66,293,269 (GRCm39) D721E probably benign Het
Anpep A G 7: 79,488,155 (GRCm39) probably null Het
Apeh A T 9: 107,969,925 (GRCm39) probably null Het
Apob A T 12: 8,040,839 (GRCm39) I655L possibly damaging Het
Atp2b1 T A 10: 98,832,810 (GRCm39) L437Q probably damaging Het
Cacna2d3 T A 14: 29,073,779 (GRCm39) R222S probably damaging Het
Cdc25b T A 2: 131,033,057 (GRCm39) probably benign Het
Cdon A G 9: 35,364,233 (GRCm39) probably benign Het
Cenpf C T 1: 189,384,910 (GRCm39) D2457N probably damaging Het
Cenpo A T 12: 4,265,433 (GRCm39) probably null Het
Ces2b G T 8: 105,562,521 (GRCm39) A284S probably benign Het
Clock T C 5: 76,390,679 (GRCm39) D311G probably damaging Het
Csmd3 T C 15: 47,559,257 (GRCm39) probably null Het
Dbil5 A G 11: 76,109,308 (GRCm39) M71V probably benign Het
Ddhd1 A C 14: 45,833,004 (GRCm39) L864R probably damaging Het
Ddx19a T C 8: 111,719,743 (GRCm39) probably benign Het
Dnah11 A G 12: 118,024,052 (GRCm39) C1900R probably damaging Het
Dnah2 A G 11: 69,405,514 (GRCm39) V666A probably benign Het
Dnah5 T A 15: 28,252,569 (GRCm39) M754K probably benign Het
Dnajc15 A T 14: 78,063,854 (GRCm39) S145T probably benign Het
Drap1 A G 19: 5,474,285 (GRCm39) F25S probably damaging Het
Drgx A G 14: 32,327,281 (GRCm39) probably benign Het
Fam83e G A 7: 45,376,135 (GRCm39) E283K probably damaging Het
Fbxo48 G T 11: 16,903,368 (GRCm39) probably benign Het
Fndc3a A T 14: 72,793,997 (GRCm39) I892N probably damaging Het
Gcn1 A G 5: 115,753,611 (GRCm39) T2321A probably benign Het
Gm1110 G T 9: 26,792,422 (GRCm39) probably benign Het
Gm5499 T C 17: 87,386,423 (GRCm39) noncoding transcript Het
Gmnc G T 16: 26,782,729 (GRCm39) probably benign Het
Greb1l A G 18: 10,554,997 (GRCm39) D1681G possibly damaging Het
Hc G A 2: 34,890,777 (GRCm39) probably benign Het
Hmcn2 A C 2: 31,294,899 (GRCm39) T2563P probably damaging Het
Iqcd A T 5: 120,738,300 (GRCm39) K39N probably damaging Het
Kank2 A G 9: 21,685,871 (GRCm39) S668P probably damaging Het
Kcng1 T A 2: 168,110,961 (GRCm39) N68Y probably damaging Het
Kmt5b T A 19: 3,836,633 (GRCm39) probably null Het
Lama2 T A 10: 27,200,750 (GRCm39) I533F possibly damaging Het
Lcmt1 T A 7: 123,002,131 (GRCm39) I132N probably damaging Het
Mad2l2 G T 4: 148,227,429 (GRCm39) probably benign Het
Mcph1 T C 8: 18,851,428 (GRCm39) I807T probably damaging Het
Mdn1 A G 4: 32,722,315 (GRCm39) I2366V probably benign Het
Moxd1 T C 10: 24,176,217 (GRCm39) W558R probably damaging Het
Myh13 T C 11: 67,253,407 (GRCm39) probably benign Het
Myrf T C 19: 10,202,851 (GRCm39) D141G probably damaging Het
Ncoa7 T C 10: 30,570,097 (GRCm39) I249M probably damaging Het
Obox5 T C 7: 15,492,558 (GRCm39) V171A probably damaging Het
Or13e8 A T 4: 43,697,134 (GRCm39) V13D possibly damaging Het
Or2c1 T C 16: 3,657,521 (GRCm39) I228T probably damaging Het
Or5ak20 A T 2: 85,184,243 (GRCm39) V9E probably damaging Het
Or6c219 A G 10: 129,781,379 (GRCm39) L69P probably damaging Het
Or7a36 C A 10: 78,819,820 (GRCm39) N32K probably damaging Het
Parp4 A G 14: 56,839,752 (GRCm39) T487A probably damaging Het
Pclo A G 5: 14,729,845 (GRCm39) probably benign Het
Pcnx2 G A 8: 126,500,669 (GRCm39) R1474C probably damaging Het
Qtrt2 A G 16: 43,692,195 (GRCm39) probably benign Het
Sart1 G A 19: 5,430,287 (GRCm39) P788L probably damaging Het
Sdk1 A G 5: 141,984,634 (GRCm39) T740A probably benign Het
Serpinb1c T C 13: 33,072,979 (GRCm39) D61G possibly damaging Het
Slc24a5 G A 2: 124,922,782 (GRCm39) G152S probably damaging Het
Slc6a4 A T 11: 76,910,022 (GRCm39) I426F possibly damaging Het
Stk33 C T 7: 108,879,027 (GRCm39) V441I probably benign Het
Sult1c2 A G 17: 54,143,927 (GRCm39) probably null Het
Tdpoz4 T A 3: 93,703,835 (GRCm39) V44E probably benign Het
Tmprss13 C A 9: 45,254,529 (GRCm39) T432K probably damaging Het
Traf7 A G 17: 24,729,527 (GRCm39) L428P probably damaging Het
Tubb1 T C 2: 174,299,215 (GRCm39) I299T probably benign Het
Vmn1r158 A T 7: 22,489,772 (GRCm39) W146R probably damaging Het
Vmn1r42 A G 6: 89,822,059 (GRCm39) I170T possibly damaging Het
Vmn2r116 A T 17: 23,606,063 (GRCm39) H325L probably damaging Het
Zfp516 T A 18: 83,011,300 (GRCm39) L1111H possibly damaging Het
Zfp61 C G 7: 23,990,635 (GRCm39) K505N probably damaging Het
Zfp653 C A 9: 21,969,274 (GRCm39) E331* probably null Het
Zfp949 A T 9: 88,451,830 (GRCm39) K467* probably null Het
Other mutations in Irag2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00918:Irag2 APN 6 145,113,720 (GRCm39) missense probably damaging 1.00
IGL01066:Irag2 APN 6 145,106,681 (GRCm39) missense probably damaging 1.00
IGL01877:Irag2 APN 6 145,093,525 (GRCm39) missense probably damaging 0.99
IGL02154:Irag2 APN 6 145,083,967 (GRCm39) missense possibly damaging 0.92
IGL02727:Irag2 APN 6 145,120,344 (GRCm39) missense possibly damaging 0.78
FR4976:Irag2 UTSW 6 145,119,511 (GRCm39) unclassified probably benign
R0238:Irag2 UTSW 6 145,117,704 (GRCm39) unclassified probably benign
R0239:Irag2 UTSW 6 145,117,704 (GRCm39) unclassified probably benign
R0454:Irag2 UTSW 6 145,113,710 (GRCm39) missense possibly damaging 0.73
R0485:Irag2 UTSW 6 145,110,938 (GRCm39) missense probably damaging 1.00
R0487:Irag2 UTSW 6 145,110,986 (GRCm39) missense probably benign 0.02
R0554:Irag2 UTSW 6 145,111,013 (GRCm39) missense probably benign 0.01
R0634:Irag2 UTSW 6 145,120,354 (GRCm39) missense probably damaging 0.98
R1440:Irag2 UTSW 6 145,120,237 (GRCm39) missense possibly damaging 0.77
R1697:Irag2 UTSW 6 145,083,341 (GRCm39) splice site probably benign
R1968:Irag2 UTSW 6 145,115,499 (GRCm39) missense probably damaging 0.98
R3735:Irag2 UTSW 6 145,106,596 (GRCm39) splice site probably benign
R3736:Irag2 UTSW 6 145,106,596 (GRCm39) splice site probably benign
R4643:Irag2 UTSW 6 145,113,786 (GRCm39) missense probably benign 0.17
R4812:Irag2 UTSW 6 145,093,737 (GRCm39) missense probably damaging 1.00
R4916:Irag2 UTSW 6 145,111,027 (GRCm39) missense probably damaging 1.00
R5183:Irag2 UTSW 6 145,083,946 (GRCm39) missense probably benign 0.23
R5845:Irag2 UTSW 6 145,117,392 (GRCm39) missense probably benign 0.00
R6701:Irag2 UTSW 6 145,090,702 (GRCm39) nonsense probably null
R6735:Irag2 UTSW 6 145,106,619 (GRCm39) missense probably damaging 1.00
R7083:Irag2 UTSW 6 145,115,509 (GRCm39) missense probably damaging 1.00
R7317:Irag2 UTSW 6 145,104,424 (GRCm39) missense possibly damaging 0.93
R7468:Irag2 UTSW 6 145,119,427 (GRCm39) splice site probably null
R8429:Irag2 UTSW 6 145,110,949 (GRCm39) missense probably damaging 1.00
R8485:Irag2 UTSW 6 145,117,400 (GRCm39) missense probably damaging 1.00
R8779:Irag2 UTSW 6 145,083,925 (GRCm39) missense probably benign 0.00
R8955:Irag2 UTSW 6 145,117,390 (GRCm39) missense probably benign
R9034:Irag2 UTSW 6 145,083,273 (GRCm39) missense probably benign
R9487:Irag2 UTSW 6 145,120,257 (GRCm39) missense probably benign 0.00
R9488:Irag2 UTSW 6 145,113,753 (GRCm39) missense probably damaging 1.00
R9676:Irag2 UTSW 6 145,120,338 (GRCm39) missense probably damaging 1.00
RF003:Irag2 UTSW 6 145,119,509 (GRCm39) unclassified probably benign
RF015:Irag2 UTSW 6 145,119,509 (GRCm39) unclassified probably benign
RF017:Irag2 UTSW 6 145,119,510 (GRCm39) unclassified probably benign
RF027:Irag2 UTSW 6 145,119,516 (GRCm39) unclassified probably benign
RF029:Irag2 UTSW 6 145,119,516 (GRCm39) unclassified probably benign
RF030:Irag2 UTSW 6 145,119,516 (GRCm39) unclassified probably benign
RF030:Irag2 UTSW 6 145,119,514 (GRCm39) unclassified probably benign
RF038:Irag2 UTSW 6 145,119,516 (GRCm39) unclassified probably benign
RF043:Irag2 UTSW 6 145,119,516 (GRCm39) unclassified probably benign
RF044:Irag2 UTSW 6 145,119,516 (GRCm39) unclassified probably benign
RF048:Irag2 UTSW 6 145,119,510 (GRCm39) unclassified probably benign
RF052:Irag2 UTSW 6 145,106,257 (GRCm39) critical splice acceptor site probably benign
RF054:Irag2 UTSW 6 145,119,514 (GRCm39) unclassified probably benign
RF055:Irag2 UTSW 6 145,119,511 (GRCm39) unclassified probably benign
Z1177:Irag2 UTSW 6 145,093,800 (GRCm39) missense probably benign 0.00
Predicted Primers
Posted On 2014-06-23