Incidental Mutation 'R0401:Irag1'
ID 38216
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 038606-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R0401 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 110467473-110581668 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 110476104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 757 (P757S)
Ref Sequence ENSEMBL: ENSMUSP00000005751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005751] [ENSMUST00000125758] [ENSMUST00000127935]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000005751
AA Change: P757S

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000005751
Gene: ENSMUSG00000005611
AA Change: P757S

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: P822S

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000114578
Gene: ENSMUSG00000005611
AA Change: P822S

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: ENSMUST00000127935
AA Change: P616S

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000120045
Gene: ENSMUSG00000005611
AA Change: P616S

DomainStartEndE-ValueType
Pfam:MRVI1 124 715 7.9e-228 PFAM
Meta Mutation Damage Score 0.0581 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.6%
Validation Efficiency 98% (90/92)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A T 3: 137,776,067 (GRCm39) H1752L possibly damaging Het
Abcc5 T C 16: 20,195,308 (GRCm39) K730E probably benign Het
Ahnak A G 19: 8,992,480 (GRCm39) D4588G probably benign Het
AI467606 G A 7: 126,691,608 (GRCm39) R61H probably damaging Het
Apoa4 T A 9: 46,154,356 (GRCm39) V319E probably damaging Het
Ark2n C A 18: 77,761,658 (GRCm39) S218I probably damaging Het
Atad5 T A 11: 80,011,525 (GRCm39) D1297E probably benign Het
BC005624 G A 2: 30,870,021 (GRCm39) T62I probably benign Het
Bcl6 T C 16: 23,791,344 (GRCm39) K337E probably damaging Het
Cad T A 5: 31,231,330 (GRCm39) probably benign Het
Ccdc73 T C 2: 104,821,634 (GRCm39) S528P probably benign Het
Ccng2 T G 5: 93,421,272 (GRCm39) C261G possibly damaging Het
Cdh11 A T 8: 103,400,638 (GRCm39) I110N probably damaging Het
Cgnl1 A G 9: 71,612,521 (GRCm39) V767A probably damaging Het
Cit A G 5: 116,123,538 (GRCm39) T1460A probably benign Het
Clec4b2 C T 6: 123,158,259 (GRCm39) Q42* probably null Het
Clip1 A G 5: 123,791,852 (GRCm39) V106A probably damaging Het
Crb1 T C 1: 139,126,529 (GRCm39) probably benign Het
Cts6 T C 13: 61,346,153 (GRCm39) probably benign Het
Cul9 T C 17: 46,852,630 (GRCm39) E244G probably damaging Het
Dcaf8l C A X: 88,448,815 (GRCm39) R438L probably benign Het
Ddx55 A T 5: 124,706,014 (GRCm39) I480F probably damaging Het
Dixdc1 A G 9: 50,604,974 (GRCm39) S17P possibly damaging Het
Drosha T A 15: 12,926,117 (GRCm39) Y1235* probably null Het
Dsg2 G T 18: 20,725,565 (GRCm39) probably benign Het
E2f5 T C 3: 14,644,085 (GRCm39) probably null Het
Epc2 A G 2: 49,418,986 (GRCm39) T265A probably damaging Het
Etaa1 T G 11: 17,897,514 (GRCm39) D201A probably damaging Het
Fancd2 T C 6: 113,525,304 (GRCm39) I260T possibly damaging Het
Fhdc1 G A 3: 84,351,931 (GRCm39) A1098V probably benign Het
Gpd2 G A 2: 57,230,105 (GRCm39) V286I possibly damaging Het
Gpr141b A T 13: 19,913,664 (GRCm39) noncoding transcript Het
H2-T9 C T 17: 36,439,597 (GRCm39) V128M probably damaging Het
Herc2 A C 7: 55,807,480 (GRCm39) E2523A probably damaging Het
Jmjd1c G A 10: 67,056,161 (GRCm39) R527H probably damaging Het
Kif12 G A 4: 63,087,762 (GRCm39) probably benign Het
Lrp2 A T 2: 69,309,492 (GRCm39) N2802K probably damaging Het
Mab21l2 C G 3: 86,454,296 (GRCm39) G235R probably benign Het
Mapk8 T C 14: 33,104,165 (GRCm39) E417G probably benign Het
Mapk8ip3 G A 17: 25,128,145 (GRCm39) probably benign Het
Mettl1 A G 10: 126,880,946 (GRCm39) T203A probably benign Het
Mettl9 T C 7: 120,675,536 (GRCm39) V312A probably damaging Het
Mex3d A G 10: 80,222,728 (GRCm39) V176A probably benign Het
Mmp3 T C 9: 7,449,790 (GRCm39) S225P probably damaging Het
Neb G A 2: 52,078,689 (GRCm39) probably benign Het
Ninj2 C T 6: 120,175,012 (GRCm39) A51V possibly damaging Het
Nle1 A G 11: 82,796,205 (GRCm39) probably benign Het
Nol9 T C 4: 152,137,062 (GRCm39) Y532H probably benign Het
Nr2c1 T A 10: 94,007,020 (GRCm39) V286E probably benign Het
Or4b1b A T 2: 90,112,748 (GRCm39) M57K probably damaging Het
Or4c31 T G 2: 88,292,269 (GRCm39) L195R probably damaging Het
Or52e18 T A 7: 104,609,150 (GRCm39) H263L probably damaging Het
Or5p4 T A 7: 107,680,079 (GRCm39) I26N possibly damaging Het
Or6c69 A G 10: 129,747,785 (GRCm39) Y121H probably benign Het
Or6f1 T C 7: 85,970,500 (GRCm39) Y220C probably benign Het
Or9k7 A G 10: 130,046,489 (GRCm39) L170P probably damaging Het
Ovch2 A T 7: 107,400,343 (GRCm39) V15D probably damaging Het
Pate8 G T 9: 36,493,924 (GRCm39) A3E unknown Het
Pclo T G 5: 14,731,748 (GRCm39) S3417A unknown Het
Pex1 T A 5: 3,683,759 (GRCm39) M1085K probably damaging Het
Plscr2 T C 9: 92,164,188 (GRCm39) S6P probably benign Het
Pogz C T 3: 94,784,336 (GRCm39) P722S possibly damaging Het
Pom121l2 A T 13: 22,166,395 (GRCm39) D222V probably benign Het
Prpf40a T C 2: 53,049,325 (GRCm39) Y179C probably damaging Het
R3hdm2 A G 10: 127,294,042 (GRCm39) I179V possibly damaging Het
Ranbp9 A C 13: 43,576,134 (GRCm39) V355G probably damaging Het
Rims2 T C 15: 39,373,028 (GRCm39) probably benign Het
Ryr2 A T 13: 11,720,570 (GRCm39) S2693T probably benign Het
Sbno1 G A 5: 124,548,348 (GRCm39) T111I probably damaging Het
Sdk1 A C 5: 142,031,916 (GRCm39) N997T possibly damaging Het
Setx G T 2: 29,056,301 (GRCm39) E39* probably null Het
Skint7 T A 4: 111,837,559 (GRCm39) N112K probably damaging Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Slc4a10 A T 2: 62,021,192 (GRCm39) D80V probably benign Het
Susd2 C A 10: 75,474,437 (GRCm39) probably benign Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Tcf3 G T 10: 80,256,992 (GRCm39) S77R probably damaging Het
Tdpoz3 T C 3: 93,733,672 (GRCm39) Y116H probably benign Het
Tex26 C A 5: 149,384,323 (GRCm39) D164E probably benign Het
Thoc5 G A 11: 4,852,213 (GRCm39) probably benign Het
Tiparp A G 3: 65,438,857 (GRCm39) R58G probably benign Het
Trim66 A T 7: 109,074,471 (GRCm39) C597S probably damaging Het
Ugt2a3 T A 5: 87,484,349 (GRCm39) Q225L probably benign Het
Vmn1r25 T A 6: 57,955,696 (GRCm39) I198L probably benign Het
Vmn2r106 A T 17: 20,499,281 (GRCm39) V210D possibly damaging Het
Vmn2r124 T C 17: 18,284,407 (GRCm39) F483L probably damaging Het
Vmn2r78 A G 7: 86,570,519 (GRCm39) K346E probably benign Het
Zfhx4 T A 3: 5,466,221 (GRCm39) S2126R possibly damaging Het
Zfp608 C T 18: 55,032,066 (GRCm39) G625R probably benign Het
Zkscan5 A G 5: 145,149,385 (GRCm39) D234G probably damaging Het
Zscan10 T A 17: 23,824,889 (GRCm39) V115E 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
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
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'- TTTGGCTGGGAGTCCCATCAAGAG -3'
(R):5'- TTGTATGGAGCCACAGGAAGTGCG -3'

Sequencing Primer
(F):5'- CTAGAGACTATAGATGGCTCCCTG -3'
(R):5'- AATGTCCTGTGTCTGACCCT -3'
Posted On 2013-05-23