Incidental Mutation 'R9482:Irag1'
ID 716302
Institutional Source Beutler Lab
Gene Symbol Irag1
Ensembl Gene ENSMUSG00000005611
Gene Name inositol 1,4,5-triphosphate receptor associated 1
Synonyms Ris1, Mrvi1
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R9482 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 110467473-110581668 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 110545259 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 12 (D12E)
Ref Sequence ENSEMBL: ENSMUSP00000114578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005751] [ENSMUST00000125758] [ENSMUST00000154466]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000005751
SMART Domains Protein: ENSMUSP00000005751
Gene: ENSMUSG00000005611

DomainStartEndE-ValueType
low complexity region 98 113 N/A INTRINSIC
low complexity region 138 160 N/A INTRINSIC
Pfam:MRVI1 265 856 1.8e-227 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125758
AA Change: D12E

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000114578
Gene: ENSMUSG00000005611
AA Change: D12E

DomainStartEndE-ValueType
low complexity region 163 178 N/A INTRINSIC
low complexity region 203 225 N/A INTRINSIC
Pfam:MRVI1 336 921 1.5e-202 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154466
SMART Domains Protein: ENSMUSP00000120765
Gene: ENSMUSG00000005611

DomainStartEndE-ValueType
low complexity region 98 113 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency
MGI Phenotype FUNCTION: This gene is a putative tumor suppressor gene that is frequently disrupted by mouse AIDS-related virus (MRV). The encoded protein participates in signaling by nitric oxide (NO) to inhibit intracellular calcium release and platelet aggregation in cardiovascular tissue. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013]
PHENOTYPE: Mice homozygous for a knock-out allele show lower blood pressure, a slightly reduced heart rate, and failure of cGMP-mediated relaxation of receptor-triggered smooth muscle contraction; 50% of mice die prematurely with an enlarged stomach, a dilated cecum, pyloric stenosis and impaired GI motility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 A G 10: 14,307,423 (GRCm39) V793A probably benign Het
Als2 G T 1: 59,231,109 (GRCm39) P834Q probably damaging Het
Alx1 T C 10: 102,864,335 (GRCm39) T45A probably benign Het
Angptl7 T G 4: 148,584,575 (GRCm39) S58R possibly damaging Het
Atg3 A G 16: 44,979,481 (GRCm39) T7A probably benign Het
Bpifc A T 10: 85,815,118 (GRCm39) S283T possibly damaging Het
C2cd2l T A 9: 44,227,914 (GRCm39) E231V probably damaging Het
Cdk5r2 T C 1: 74,894,504 (GRCm39) V83A probably damaging Het
Chst10 T C 1: 38,907,116 (GRCm39) E178G probably damaging Het
Crocc2 T A 1: 93,143,106 (GRCm39) L1236Q probably benign Het
Dleu7 T C 14: 62,514,351 (GRCm39) *210W probably null Het
Emc1 T G 4: 139,088,201 (GRCm39) V323G probably damaging Het
Fcrla T C 1: 170,745,949 (GRCm39) T278A probably benign Het
Flrt3 T C 2: 140,503,590 (GRCm39) T13A probably benign Het
Galntl6 A T 8: 58,310,549 (GRCm39) probably null Het
Gen1 A G 12: 11,305,186 (GRCm39) V203A possibly damaging Het
Gm3149 T A 14: 15,698,287 (GRCm39) V169E probably benign Het
Hjurp CTCCTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCA C 1: 88,193,996 (GRCm39) probably benign Het
Hmcn1 A G 1: 150,610,281 (GRCm39) S1463P probably benign Het
Jsrp1 A T 10: 80,644,734 (GRCm39) I224N possibly damaging Het
Kcnk2 CAAA CAA 1: 188,988,891 (GRCm39) probably null Het
Kcnma1 A T 14: 23,441,033 (GRCm39) M591K probably benign Het
Kmt2d A C 15: 98,763,046 (GRCm39) W268G probably damaging Het
Knop1 A G 7: 118,447,710 (GRCm39) S417P unknown Het
Lpin3 T C 2: 160,746,416 (GRCm39) F692L probably damaging Het
Mycbp T C 4: 123,803,880 (GRCm39) C130R unknown Het
Myh1 T C 11: 67,108,745 (GRCm39) I1387T probably damaging Het
Nbeal2 T C 9: 110,463,066 (GRCm39) D1333G probably benign Het
Nedd4l G T 18: 65,021,031 (GRCm39) probably benign Het
Nucks1 A G 1: 131,846,744 (GRCm39) N7D probably benign Het
Nup210 A G 6: 91,019,608 (GRCm39) I991T probably damaging Het
Or4a72 C T 2: 89,405,953 (GRCm39) G39D probably damaging Het
Pcdhb3 A G 18: 37,434,736 (GRCm39) D234G probably damaging Het
Phyh C T 2: 4,923,863 (GRCm39) probably benign Het
Pik3c2a G A 7: 115,961,289 (GRCm39) T1070I probably benign Het
Prss52 C T 14: 64,351,129 (GRCm39) L305F probably damaging Het
Rasef T C 4: 73,708,933 (GRCm39) D100G probably benign Het
Rb1 A C 14: 73,443,493 (GRCm39) M754R probably damaging Het
Rbm6 T C 9: 107,669,208 (GRCm39) Q568R possibly damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Serf2 T C 2: 121,281,206 (GRCm39) S41P possibly damaging Het
Serf2 C A 2: 121,281,205 (GRCm39) D40E possibly damaging Het
Sh2b1 AGCTC AGCTCAGCCACGGGGACCCGCTC 7: 126,066,768 (GRCm39) probably benign Het
Sympk G T 7: 18,771,986 (GRCm39) R350L possibly damaging Het
Tab2 C A 10: 7,795,124 (GRCm39) V379L probably damaging Het
Tnk1 T G 11: 69,743,666 (GRCm39) T485P probably benign Het
Trmt6 T C 2: 132,648,699 (GRCm39) T412A probably benign Het
Vgll3 A G 16: 65,636,229 (GRCm39) T182A probably benign Het
Zfat A G 15: 68,084,652 (GRCm39) S80P probably damaging Het
Zfp1004 C A 2: 150,034,711 (GRCm39) T344K probably benign Het
Zfyve26 A G 12: 79,291,239 (GRCm39) L2122S probably damaging Het
Other mutations in Irag1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01079:Irag1 APN 7 110,545,174 (GRCm39) missense possibly damaging 0.64
IGL01384:Irag1 APN 7 110,525,708 (GRCm39) missense possibly damaging 0.89
IGL01474:Irag1 APN 7 110,470,640 (GRCm39) missense possibly damaging 0.65
IGL02081:Irag1 APN 7 110,523,281 (GRCm39) critical splice acceptor site probably null
IGL02193:Irag1 APN 7 110,498,162 (GRCm39) missense probably damaging 1.00
IGL02537:Irag1 APN 7 110,470,680 (GRCm39) nonsense probably null
IGL03084:Irag1 APN 7 110,485,036 (GRCm39) splice site probably benign
IGL03264:Irag1 APN 7 110,525,553 (GRCm39) missense probably benign 0.00
hurricane UTSW 7 110,523,170 (GRCm39) missense probably benign 0.09
R0346:Irag1 UTSW 7 110,498,183 (GRCm39) missense probably damaging 1.00
R0401:Irag1 UTSW 7 110,476,104 (GRCm39) missense probably benign 0.09
R0731:Irag1 UTSW 7 110,476,107 (GRCm39) missense probably benign 0.00
R1168:Irag1 UTSW 7 110,495,138 (GRCm39) missense probably damaging 1.00
R1342:Irag1 UTSW 7 110,487,252 (GRCm39) missense probably benign 0.07
R1887:Irag1 UTSW 7 110,523,740 (GRCm39) critical splice donor site probably null
R2183:Irag1 UTSW 7 110,498,189 (GRCm39) missense probably damaging 1.00
R3417:Irag1 UTSW 7 110,476,161 (GRCm39) missense possibly damaging 0.90
R3736:Irag1 UTSW 7 110,523,170 (GRCm39) missense probably benign 0.09
R4063:Irag1 UTSW 7 110,522,984 (GRCm39) missense probably benign 0.38
R4436:Irag1 UTSW 7 110,476,124 (GRCm39) missense probably damaging 1.00
R4523:Irag1 UTSW 7 110,523,048 (GRCm39) missense probably benign 0.02
R4948:Irag1 UTSW 7 110,487,236 (GRCm39) missense probably damaging 1.00
R5070:Irag1 UTSW 7 110,524,519 (GRCm39) missense probably benign
R5085:Irag1 UTSW 7 110,470,700 (GRCm39) missense probably damaging 1.00
R5605:Irag1 UTSW 7 110,545,209 (GRCm39) missense possibly damaging 0.85
R6194:Irag1 UTSW 7 110,498,901 (GRCm39) missense probably damaging 1.00
R6218:Irag1 UTSW 7 110,476,112 (GRCm39) missense probably benign 0.00
R6273:Irag1 UTSW 7 110,470,790 (GRCm39) missense probably benign 0.01
R6608:Irag1 UTSW 7 110,487,758 (GRCm39) missense probably damaging 1.00
R6754:Irag1 UTSW 7 110,528,719 (GRCm39) missense probably damaging 1.00
R6835:Irag1 UTSW 7 110,520,541 (GRCm39) missense probably damaging 1.00
R7064:Irag1 UTSW 7 110,495,061 (GRCm39) missense probably damaging 1.00
R7304:Irag1 UTSW 7 110,498,931 (GRCm39) missense possibly damaging 0.77
R7412:Irag1 UTSW 7 110,522,963 (GRCm39) missense probably benign 0.06
R7420:Irag1 UTSW 7 110,470,680 (GRCm39) nonsense probably null
R7857:Irag1 UTSW 7 110,522,742 (GRCm39) nonsense probably null
R8078:Irag1 UTSW 7 110,498,942 (GRCm39) missense probably damaging 1.00
R8139:Irag1 UTSW 7 110,498,879 (GRCm39) critical splice donor site probably null
R8280:Irag1 UTSW 7 110,522,828 (GRCm39) missense possibly damaging 0.82
R8733:Irag1 UTSW 7 110,477,425 (GRCm39) missense probably benign 0.02
R8946:Irag1 UTSW 7 110,477,347 (GRCm39) critical splice donor site probably null
R9150:Irag1 UTSW 7 110,498,205 (GRCm39) missense probably benign 0.12
R9321:Irag1 UTSW 7 110,524,534 (GRCm39) missense probably benign 0.03
R9373:Irag1 UTSW 7 110,545,038 (GRCm39) critical splice donor site probably null
R9445:Irag1 UTSW 7 110,545,161 (GRCm39) missense possibly damaging 0.71
R9715:Irag1 UTSW 7 110,470,640 (GRCm39) missense possibly damaging 0.65
X0065:Irag1 UTSW 7 110,523,251 (GRCm39) missense probably benign 0.31
Z1176:Irag1 UTSW 7 110,523,206 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCTCCTCATCCTCAGGAATG -3'
(R):5'- CCTTAGCTATAGTTTTGAGGAGCTG -3'

Sequencing Primer
(F):5'- CTCATCCTCAGGAATGTGGGG -3'
(R):5'- GAATAGCTGTGTTTACTGTAAGGACC -3'
Posted On 2022-07-18