Incidental Mutation 'IGL01877:Irag2'
ID 178919
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Irag2
Ensembl Gene ENSMUSG00000030263
Gene Name inositol 1,4,5-triphosphate receptor associated 2
Synonyms Jaw1, Lrmp, D6Int7, D6Int8, D6Int5, D6Int4, D6Int3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01877
Quality Score
Status
Chromosome 6
Chromosomal Location 145061379-145120660 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 145093525 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 94 (S94P)
Ref Sequence ENSEMBL: ENSMUSP00000120166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032396] [ENSMUST00000135984] [ENSMUST00000152571]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000032396
AA Change: S74P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032396
Gene: ENSMUSG00000030263
AA Change: S74P

DomainStartEndE-ValueType
Pfam:MRVI1 10 539 3.2e-265 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125029
Predicted Effect probably benign
Transcript: ENSMUST00000132948
AA Change: S38P

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000120248
Gene: ENSMUSG00000030263
AA Change: S38P

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 damaging
Transcript: ENSMUST00000152571
AA Change: S94P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000120166
Gene: ENSMUSG00000030263
AA Change: S94P

DomainStartEndE-ValueType
Pfam:MRVI1 9 198 2.2e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156849
AA Change: S39P

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115043
Gene: ENSMUSG00000030263
AA Change: S39P

DomainStartEndE-ValueType
Pfam:MRVI1 9 196 1.2e-74 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204561
Coding Region Coverage
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 A G 8: 41,248,982 (GRCm39) E364G probably benign Het
Aknad1 C T 3: 108,682,406 (GRCm39) P523S probably damaging Het
Alms1 T A 6: 85,599,393 (GRCm39) N1875K possibly damaging Het
Ano4 A T 10: 88,860,932 (GRCm39) Y179* probably null Het
Cacna1h A T 17: 25,607,024 (GRCm39) F965I probably damaging Het
Cfh T A 1: 140,028,567 (GRCm39) I1043F probably damaging Het
Galnt12 T A 4: 47,112,315 (GRCm39) probably benign Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10717 A T 9: 3,026,287 (GRCm39) Y195F probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gpr21 A C 2: 37,408,093 (GRCm39) N213T probably benign Het
Hexa T C 9: 59,471,163 (GRCm39) probably benign Het
Itga6 T C 2: 71,668,624 (GRCm39) I521T probably benign Het
Jmjd6 G T 11: 116,733,519 (GRCm39) Q53K probably benign Het
Mylk3 T C 8: 86,085,671 (GRCm39) T225A possibly damaging Het
Pcgf2 A G 11: 97,583,359 (GRCm39) V79A probably damaging Het
Setd1b T C 5: 123,286,511 (GRCm39) M519T unknown Het
Slco1c1 T C 6: 141,500,879 (GRCm39) S454P probably damaging Het
Tubb1 C A 2: 174,298,691 (GRCm39) S124R possibly damaging Het
Umodl1 A G 17: 31,201,294 (GRCm39) I408V probably benign Het
Unc13b T C 4: 43,249,583 (GRCm39) probably null Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r80 A G 10: 79,007,334 (GRCm39) probably null Het
Yipf4 T G 17: 74,799,383 (GRCm39) L41R possibly damaging Het
Zfyve26 A G 12: 79,334,218 (GRCm39) S267P probably damaging 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
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
R1574:Irag2 UTSW 6 145,104,356 (GRCm39) splice site probably benign
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
Posted On 2014-05-07