Incidental Mutation 'RF030:Irag2'
ID 604310
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 # RF030 (G1)
Quality Score 214.458
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: 99.5%
  • 20x: 99.1%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI837181 GGC GGCTGC 19: 5,475,254 (GRCm39) probably benign Het
AI837181 GGC GGCCGC 19: 5,475,263 (GRCm39) probably benign Het
Amfr GCC GCCGGCGCGAGCTCC 8: 94,738,920 (GRCm39) probably benign Het
Ankhd1 GCGGCG GCGGCGCCGGCG 18: 36,693,966 (GRCm39) probably benign Het
Ankhd1 GGCGGCAGC GGCGGCAGCGGCAGC 18: 36,693,980 (GRCm39) probably benign Het
AY761185 GGGCACTGTGG GGG 8: 21,433,916 (GRCm39) probably null Het
B430218F22Rik GG GGTCGGCG 13: 118,523,384 (GRCm39) probably benign Het
Calhm1 CTGTGGCTGTGGCTGTGGCTGTGG CTGTGGCTGTGGATGTGGCTGTGGCTGTGGCTGTGG 19: 47,129,692 (GRCm39) probably benign Het
Cox7a2l GGA GGATAGGGA 17: 83,810,151 (GRCm39) probably benign Het
Cul9 CCTC CCTCCTC 17: 46,811,795 (GRCm39) probably benign Het
Cyb5r4 ACACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA ACACACTGCCCAGGGATGTGACAGCCACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA 9: 86,922,462 (GRCm39) probably benign Het
Cyb5r4 TGCCCAGGGATGTGACAGACACAC TGCCCAGGGATGTGACAGACACACGGCCCAGGGATGTGACAGACACAC 9: 86,922,468 (GRCm39) probably benign Het
Dmkn GTG GTGTTGGAAGTGGTGGAAGTGGTGGAAATG 7: 30,466,607 (GRCm39) probably benign Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Eed C A 7: 89,604,240 (GRCm39) A411S probably benign Het
Fer1l4 GGTC G 2: 155,887,449 (GRCm39) probably benign Het
Frem3 GATC GATCATC 8: 81,341,867 (GRCm39) probably benign Het
Gab3 CTTTT CT X: 74,043,583 (GRCm39) probably benign Het
Gab3 TCT TCTGCT X: 74,043,632 (GRCm39) probably benign Het
Gab3 TTC TTCGTC X: 74,043,631 (GRCm39) probably benign Het
Gab3 TCT TCTCCT X: 74,043,614 (GRCm39) probably benign Het
Gab3 TCT TCTGCT X: 74,043,611 (GRCm39) probably benign Het
Gm5475 GAAAGGTGGAAGGAAA GAA 15: 100,325,037 (GRCm39) probably null Het
Gm572 TGGGGGGGGGGGG TGGGGG 4: 148,755,850 (GRCm39) probably null Het
Gucy1b2 CACACACACACACACACTTAC CAC 14: 62,646,090 (GRCm39) probably benign Het
Gucy2d C CTGGGGCCTG 7: 98,108,241 (GRCm39) probably benign Het
Hsdl2 CCACAGCTGCAG CCACAGCTGCAGCAGCAGACACAGCTGCAG 4: 59,610,647 (GRCm39) probably benign Het
Idh2 GGTCCCAG GG 7: 79,748,077 (GRCm39) probably benign Het
Il2 GG GGGCTTGAAGTGTG 3: 37,179,991 (GRCm39) probably benign Het
Il2 GTGG GTGGGGCTTGAACTGG 3: 37,179,976 (GRCm39) probably benign Het
Kmt2b CTCCTC CTCCTCTTCCTC 7: 30,285,802 (GRCm39) probably benign Het
Lce1m C CGGCTGCTGCCAA 3: 92,925,448 (GRCm39) probably benign Het
Lce1m GCTGCCAC GCTGCCACAGCAACTTCTGCCAC 3: 92,925,651 (GRCm39) probably benign Het
Mamld1 CAG CAGTAG X: 70,162,434 (GRCm39) probably null Het
Map1a CAGCTCCA CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCTAGCTCCA 2: 121,136,792 (GRCm39) probably benign Het
Map1a CA CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCAA 2: 121,136,798 (GRCm39) probably benign Het
Med12l GCA GCATCA 3: 59,183,410 (GRCm39) probably benign Het
Morn4 GCAGTGAG GCAGTGAGTCAGTCAGTGAG 19: 42,064,550 (GRCm39) probably null Het
Pdik1l C CCACCAA 4: 134,006,827 (GRCm39) probably benign Het
Pkhd1l1 TTTTTTT TTTTTTTTTGTTTTTT 15: 44,421,898 (GRCm39) probably benign Het
Rfx4 TCTCTCTCTCTCTCT TCTCTCTCTCTCTCTCCCTCTCTCTCTCTCT 10: 84,694,344 (GRCm39) probably benign Het
Setd1a TGGTGGTGG TGGTGGTGGGGGTGGTGG 7: 127,384,473 (GRCm39) probably benign Het
Setd1a GGTGGTAGT GGTGGTAGTTGTGGTAGT 7: 127,384,483 (GRCm39) probably benign Het
Six5 CGGA C 7: 18,828,725 (GRCm39) probably benign Het
Spmap2l AGCGATCCTCCCCAGTCCCGCAAGGCC AGCGATCCTCCCCTGTCCCGCAAGGCCGGCGATCCTCCCCAGTCCCGCAAGGCC 5: 77,164,248 (GRCm39) probably benign Het
Tcof1 CTGCTGCTGC CTGCTGCTGCTGC 18: 60,968,795 (GRCm39) probably benign Het
Tcof1 CCAGA CCAGACATCCCCTTGGCTGCTGAGCTGGGCACTTTCTCAGA 18: 60,966,640 (GRCm39) probably benign Het
Tcof1 ATCCCCTTGGC ATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGAGGTCCCCTTGGC 18: 60,966,646 (GRCm39) probably benign Het
Tfeb CAG CAGAAG 17: 48,097,038 (GRCm39) probably benign Het
Tfeb AGC AGCCGC 17: 48,097,036 (GRCm39) probably benign Het
Tfeb GCA GCACCA 17: 48,097,037 (GRCm39) probably benign Het
Tgoln1 TGGGCTTG TGGGCTTGTCAGAATCACCTCCTGCGGGCTTG 6: 72,593,019 (GRCm39) probably benign Het
Tgoln1 GCTTGCCAGAAT GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT 6: 72,593,046 (GRCm39) probably benign Het
Tomm5 GCATCTTCC GCATCTTCCACATCTTCC 4: 45,107,973 (GRCm39) probably benign Het
Trappc9 TGCTGCT TGCTGCTGCTGCTGCGGCTGCT 15: 72,673,174 (GRCm39) probably benign Het
Tsen2 GGA GGACGA 6: 115,537,028 (GRCm39) probably benign Het
Wdr97 AGGAGGAGG AG 15: 76,247,365 (GRCm39) probably null Het
Zfp384 GCCCAGGCCCAG GCCCAGGCCCAGTCCCAGGCCCAG 6: 125,013,446 (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
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 6 145,119,514 (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'- GTCTCACCTGACCATTATACTACACAG -3'
(R):5'- CAAGTTCCTGCCTGGTGTAAAAC -3'

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