Incidental Mutation 'RF027:Irag2'
ID 604189
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # RF027 (G1)
Quality Score 214.475
Status Not validated
Chromosome 6
Chromosomal Location 145061379-145120660 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) TG to TGAGCACATGG at 145119516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032396] [ENSMUST00000060797] [ENSMUST00000111728] [ENSMUST00000135984] [ENSMUST00000204105]
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 probably benign
Transcript: ENSMUST00000060797
SMART Domains Protein: ENSMUSP00000062279
Gene: ENSMUSG00000043541

DomainStartEndE-ValueType
low complexity region 1 14 N/A INTRINSIC
Pfam:Casc1_N 29 229 5.5e-61 PFAM
Pfam:Casc1 241 469 3.4e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111728
SMART Domains Protein: ENSMUSP00000107357
Gene: ENSMUSG00000043541

DomainStartEndE-ValueType
coiled coil region 1 45 N/A INTRINSIC
Pfam:Casc1 228 456 6.1e-15 PFAM
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 probably benign
Transcript: ENSMUST00000204105
SMART Domains Protein: ENSMUSP00000144783
Gene: ENSMUSG00000043541

DomainStartEndE-ValueType
low complexity region 1 14 N/A INTRINSIC
Pfam:Casc1_N 29 229 3.4e-57 PFAM
Pfam:Casc1 241 469 2.3e-11 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.7%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Blm CCTCCTCCTCCTC CCTCCTCCTCCTCTCCTCCTCCTC 7: 80,162,662 (GRCm39) probably null Het
Cacna1f GAG GAGTAG X: 7,486,293 (GRCm39) probably null Het
Ccdc170 ACC ACCTCC 10: 4,511,026 (GRCm39) probably benign Het
Cul9 CTTC CTTCTTC 17: 46,811,774 (GRCm39) probably benign Het
Cyb5r4 AGACACACTGCCCAGG AGACACACTGCCCAGGTATGTGACCGACACACTGCCCAGG 9: 86,922,484 (GRCm39) probably benign Het
Dmkn GTGGA GTGGACGTGGTGGAAGTGGTGGAAGTGTTGGA 7: 30,466,619 (GRCm39) probably benign Het
Dnaaf9 CTC CTCGTC 2: 130,612,664 (GRCm39) probably benign Het
Dnah8 CCCTCCCG C 17: 30,854,450 (GRCm39) probably null Het
Fam171b AGCAGC AGCAGCTGCAGC 2: 83,643,220 (GRCm39) probably benign Het
Flywch1 TCACTCACCCACTCCTGGTGT TCACTCACCCACTCCTGGTGTGGGGAGGCTACGCACTCACCCACTCCTGGTGT 17: 23,981,132 (GRCm39) probably null Het
Ifi208 AGATG AG 1: 173,505,262 (GRCm39) probably benign Het
Kri1 CTCCTCCT C 9: 21,192,364 (GRCm39) probably null Het
Krtap28-10 CACAGC CACAGCCACAGCCACAACAGC 1: 83,020,006 (GRCm39) probably benign Het
Loricrin ATAGCCG A 3: 91,989,183 (GRCm39) probably benign Het
Med12l AGC AGCGGC 3: 59,183,388 (GRCm39) probably benign Het
Med12l CAG CAGAAG 3: 59,183,402 (GRCm39) probably benign Het
Mn1 CAG CAGAAG 5: 111,567,571 (GRCm39) probably benign Het
Mnd1 G A 3: 84,041,366 (GRCm39) L79F possibly damaging Het
Nolc1 AGCAGCAGC AGCAGCAGCGGCAGCAGC 19: 46,069,802 (GRCm39) probably benign Het
Pdcd11 GGAGGAG GG 19: 47,101,888 (GRCm39) probably null Het
Rbfox2 G T 15: 77,016,973 (GRCm39) Q134K possibly damaging Het
Tcof1 AGC AGCTGC 18: 60,968,808 (GRCm39) probably benign Het
Tent4a GACA G 13: 69,681,973 (GRCm39) probably benign Het
Ttf2 TTCT TTCTTCT 3: 100,870,473 (GRCm39) probably benign Het
Ubtf CTTC CTTCTTC 11: 102,197,771 (GRCm39) probably benign Het
Vmn2r58 CAAAATGATGTAGCACTT C 7: 41,486,383 (GRCm39) probably null Het
Zfhx3 CAGCAGCA CAGCAGCAAGAGCAGCA 8: 109,682,730 (GRCm39) probably benign Het
Zfp384 CCCAGGC CCCAGGCCCAGGACCAGGC 6: 125,013,453 (GRCm39) probably benign 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
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
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 PCR Primer
(F):5'- ATTCCAGTAAGTTTTGTGAGCG -3'
(R):5'- TGCCCTTAAAAGCAGCTGC -3'

Sequencing Primer
(F):5'- TTTTGTGAGCGAATATTTAGAATGTG -3'
(R):5'- TGGACCGAGGTCAAGTTCCTG -3'
Posted On 2019-12-04