Incidental Mutation 'R4436:Irag1'
ID 329528
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 041702-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R4436 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 110467473-110581668 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110476124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 815 (E815G)
Ref Sequence ENSEMBL: ENSMUSP00000114578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005751] [ENSMUST00000125758] [ENSMUST00000127935]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000005751
AA Change: E750G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000005751
Gene: ENSMUSG00000005611
AA Change: E750G

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 damaging
Transcript: ENSMUST00000125758
AA Change: E815G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114578
Gene: ENSMUSG00000005611
AA Change: E815G

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 possibly damaging
Transcript: ENSMUST00000127935
AA Change: E609G

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000120045
Gene: ENSMUSG00000005611
AA Change: E609G

DomainStartEndE-ValueType
Pfam:MRVI1 124 715 7.9e-228 PFAM
Meta Mutation Damage Score 0.1455 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency 96% (54/56)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Aff3 T C 1: 38,248,768 (GRCm39) I779V possibly damaging Het
Asap1 T G 15: 64,221,692 (GRCm39) D15A probably benign Het
Ascc2 A G 11: 4,606,305 (GRCm39) D193G probably damaging Het
Bcl2a1d A T 9: 88,613,753 (GRCm39) M7K probably benign Het
Ccdc168 T C 1: 44,095,276 (GRCm39) I1941V probably benign Het
Ccdc85a T C 11: 28,526,457 (GRCm39) T384A probably benign Het
Cd86 T C 16: 36,441,194 (GRCm39) N91S probably benign Het
Cdk17 T A 10: 93,047,758 (GRCm39) probably null Het
Cemip T C 7: 83,636,637 (GRCm39) D332G probably null Het
Ces2f G A 8: 105,679,788 (GRCm39) R427H probably benign Het
Clec4a2 G A 6: 123,105,013 (GRCm39) probably null Het
Coa8 T A 12: 111,717,642 (GRCm39) D167E probably benign Het
Coq9 T C 8: 95,579,743 (GRCm39) F198L probably benign Het
Ddx24 C A 12: 103,390,233 (GRCm39) A253S probably damaging Het
Esyt3 A T 9: 99,240,078 (GRCm39) probably benign Het
Fat2 C A 11: 55,187,024 (GRCm39) G1274V probably damaging Het
Ggn A T 7: 28,870,976 (GRCm39) T132S probably damaging Het
Gm11568 T A 11: 99,749,421 (GRCm39) C209S unknown Het
Gm6931 T A 16: 49,245,225 (GRCm39) noncoding transcript Het
Gpr20 C T 15: 73,567,649 (GRCm39) V247I probably benign Het
Grm8 A T 6: 27,761,237 (GRCm39) V329E possibly damaging Het
Gtf2ird2 T C 5: 134,223,808 (GRCm39) L114P possibly damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hivep3 C T 4: 119,953,120 (GRCm39) P479S probably benign Het
Igkv6-20 A G 6: 70,313,104 (GRCm39) V23A probably damaging Het
Ikbip T A 10: 90,937,751 (GRCm39) N141K probably damaging Het
Krt77 A T 15: 101,773,904 (GRCm39) V250E probably damaging Het
Ltn1 A T 16: 87,202,502 (GRCm39) C1050S probably benign Het
Macf1 T C 4: 123,421,135 (GRCm39) I40V probably benign Het
Or2h2b-ps1 A G 17: 37,480,727 (GRCm39) F271L probably benign Het
Or4k15b T C 14: 50,272,287 (GRCm39) D191G probably damaging Het
Pi4ka T C 16: 17,100,246 (GRCm39) M1885V probably damaging Het
Plek A G 11: 16,942,972 (GRCm39) Y107H probably damaging Het
Ppp1r15a C T 7: 45,174,203 (GRCm39) V202M probably damaging Het
Ppp1r3e C A 14: 55,114,007 (GRCm39) A222S probably benign Het
Rac2 G T 15: 78,454,943 (GRCm39) Y32* probably null Het
Sdf4 T G 4: 156,093,404 (GRCm39) probably null Het
Siah1b G A X: 162,854,688 (GRCm39) P131S probably damaging Het
Spic T A 10: 88,512,817 (GRCm39) R111S probably benign Het
Ssh3 A G 19: 4,315,394 (GRCm39) F315L probably damaging Het
Ttn T C 2: 76,595,253 (GRCm39) K11972R probably damaging Het
Tubd1 C T 11: 86,439,745 (GRCm39) S30F probably benign Het
Vmn1r17 G C 6: 57,337,719 (GRCm39) I166M possibly damaging Het
Vmn2r94 T C 17: 18,478,645 (GRCm39) Y34C probably damaging Het
Xpo7 G A 14: 70,906,869 (GRCm39) T945M probably damaging Het
Zfp316 C A 5: 143,239,803 (GRCm39) A739S probably damaging Het
Zswim3 T A 2: 164,662,563 (GRCm39) C348S probably benign 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
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
R9482:Irag1 UTSW 7 110,545,259 (GRCm39) missense probably benign 0.03
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'- AAGAATTTGAGTTCTGTTGGCCAAG -3'
(R):5'- TCCTGTTGTATGGAGCCACAG -3'

Sequencing Primer
(F):5'- AATTTGGGCCCCAGACCTACTG -3'
(R):5'- CACAGGAAGTGCGCAGTGAC -3'
Posted On 2015-07-21