Mutagenetix > Incidental Mutation

Incidental Mutation 'R9445:Irag1'

713879

Institutional Source

Beutler Lab

Gene Symbol

Irag1

Ensembl Gene

ENSMUSG00000005611

Gene Name

inositol 1,4,5-triphosphate receptor associated 1

Synonyms

Ris1, Mrvi1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R9445 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110467473-110581668 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110545161 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 45 (I45N)

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

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000125758
AA Change: I45N

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000114578
Gene: ENSMUSG00000005611
AA Change: I45N

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
low complexity region	98	113	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (72/73)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	T	A	14: 41,818,174 (GRCm39)	H23Q	possibly damaging	Het
Abca14	T	C	7: 119,877,691 (GRCm39)	S1069P	probably benign	Het
Abo	A	G	2: 26,733,720 (GRCm39)	W160R	probably damaging	Het
Adgrb1	A	T	15: 74,435,807 (GRCm39)		probably benign	Het
Ahnak2	T	C	12: 112,745,978 (GRCm39)	Q1624R		Het
Amy2a1	T	A	3: 113,325,324 (GRCm39)	N90I	possibly damaging	Het
Bod1l	C	T	5: 41,974,619 (GRCm39)	V2232I	probably benign	Het
Brsk2	T	A	7: 141,538,149 (GRCm39)	H98Q	probably damaging	Het
Caskin2	C	T	11: 115,694,576 (GRCm39)	V342I	probably damaging	Het
Ccdc13	T	C	9: 121,627,156 (GRCm39)	N707S	probably benign	Het
Cdv3	T	C	9: 103,241,240 (GRCm39)	E109G	probably damaging	Het
Coro2a	C	T	4: 46,540,558 (GRCm39)	E454K	probably benign	Het
Cpq	A	T	15: 33,213,391 (GRCm39)	I137F	possibly damaging	Het
Ctsj	G	A	13: 61,151,838 (GRCm39)	T73I	possibly damaging	Het
Dchs2	A	G	3: 83,146,284 (GRCm39)	D710G	probably damaging	Het
Drd4	T	C	7: 140,872,162 (GRCm39)	V71A	probably damaging	Het
Eef2k	T	C	7: 120,457,694 (GRCm39)	C18R	probably benign	Het
Ercc4	C	A	16: 12,945,474 (GRCm39)	D386E	probably benign	Het
F2rl2	A	C	13: 95,837,622 (GRCm39)	L222F	probably benign	Het
Fkbp4	T	C	6: 128,413,580 (GRCm39)	D68G	probably damaging	Het
Fsip2	A	T	2: 82,806,132 (GRCm39)	D817V	probably damaging	Het
Gm19410	G	A	8: 36,239,652 (GRCm39)	R116H	possibly damaging	Het
Gm9376	A	T	14: 118,504,502 (GRCm39)		probably benign	Het
Golim4	A	T	3: 75,813,775 (GRCm39)	F150I	probably damaging	Het
Gtpbp2	G	A	17: 46,478,757 (GRCm39)	V525M	probably damaging	Het
Hook1	A	G	4: 95,901,499 (GRCm39)	N486D	probably benign	Het
Hook1	A	G	4: 95,903,049 (GRCm39)	S513G	probably benign	Het
Hoxd9	A	T	2: 74,528,415 (GRCm39)	T6S	probably damaging	Het
Hsd3b2	A	T	3: 98,619,051 (GRCm39)	L298Q	possibly damaging	Het
Idh3b	A	C	2: 130,123,572 (GRCm39)	S172A	probably benign	Het
Ifnar1	C	T	16: 91,292,367 (GRCm39)	P207L	probably benign	Het
Ighv5-17	T	A	12: 113,822,858 (GRCm39)	T88S	possibly damaging	Het
Il16	T	A	7: 83,337,380 (GRCm39)	K112*	probably null	Het
Kalrn	T	A	16: 33,805,600 (GRCm39)	I2646F	probably benign	Het
Kcnt1	G	T	2: 25,767,959 (GRCm39)	G23C	probably damaging	Het
Kirrel2	T	A	7: 30,150,260 (GRCm39)	I523F	probably damaging	Het
Lrrc3b	A	T	14: 15,358,552 (GRCm38)	L18H	probably damaging	Het
Med13l	T	A	5: 118,862,214 (GRCm39)	S386T	probably benign	Het
Mettl6	C	T	14: 31,209,527 (GRCm39)		probably null	Het
Mocs2	C	T	13: 114,961,879 (GRCm39)	A120V	possibly damaging	Het
Mrpl39	T	C	16: 84,531,346 (GRCm39)	T74A	probably benign	Het
Myh2	T	C	11: 67,069,754 (GRCm39)	F367L	probably damaging	Het
N4bp1	G	A	8: 87,587,238 (GRCm39)	Q567*	probably null	Het
Naf1	A	G	8: 67,336,097 (GRCm39)	I341M	probably damaging	Het
Ncoa6	A	T	2: 155,250,063 (GRCm39)	N1080K	probably benign	Het
Nell1	C	A	7: 49,632,474 (GRCm39)	L36I	possibly damaging	Het
Nrxn2	A	G	19: 6,522,448 (GRCm39)	D446G	probably damaging	Het
Nrxn3	T	A	12: 89,499,737 (GRCm39)	C709*	probably null	Het
Or13p4	T	G	4: 118,547,416 (GRCm39)	T78P	probably damaging	Het
Or2ag17	A	G	7: 106,389,464 (GRCm39)	V248A	probably damaging	Het
Or2n1	A	C	17: 38,486,694 (GRCm39)	T240P	probably damaging	Het
Or2t26	C	G	11: 49,039,879 (GRCm39)	A265G	probably benign	Het
Or8g19	T	A	9: 39,055,766 (GRCm39)	Y123*	probably null	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Pbx3	A	G	2: 34,114,555 (GRCm39)		probably benign	Het
Pcnx1	T	C	12: 81,964,981 (GRCm39)	S383P	probably damaging	Het
Pde6h	T	G	6: 136,936,359 (GRCm39)	F34C	probably damaging	Het
Pnliprp1	A	G	19: 58,720,628 (GRCm39)		probably benign	Het
Pramel21	T	C	4: 143,343,795 (GRCm39)	L365P	probably damaging	Het
Prl8a9	C	T	13: 27,748,498 (GRCm39)		probably null	Het
Qdpr	T	C	5: 45,596,669 (GRCm39)	N165S	probably benign	Het
Rabl2	A	G	15: 89,468,148 (GRCm39)	F158L	probably damaging	Het
Rrp7a	G	T	15: 83,004,084 (GRCm39)	C117*	probably null	Het
Ryr2	T	C	13: 11,787,463 (GRCm39)	Y970C	probably damaging	Het
Sf3b3	T	C	8: 111,552,774 (GRCm39)	T503A	possibly damaging	Het
Sipa1	T	C	19: 5,704,198 (GRCm39)	E708G	probably damaging	Het
Skor2	T	A	18: 76,948,811 (GRCm39)	S844R	possibly damaging	Het
Slc6a7	C	T	18: 61,138,815 (GRCm39)	C231Y	probably damaging	Het
Smgc	A	T	15: 91,729,665 (GRCm39)	E206D	probably benign	Het
Tanc2	T	C	11: 105,758,290 (GRCm39)	S684P	possibly damaging	Het
Tep1	T	C	14: 51,082,967 (GRCm39)	T1014A	possibly damaging	Het
Tex19.1	A	G	11: 121,038,283 (GRCm39)	S214G	probably benign	Het
Trmt6	G	A	2: 132,650,774 (GRCm39)	S278L	probably benign	Het
Use1	T	C	8: 71,821,200 (GRCm39)	S156P	probably benign	Het
Znrf1	G	A	8: 112,335,954 (GRCm39)	V152M	probably damaging	Het

Other mutations in Irag1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TGTGGCCAGTCTGTAAGCTG -3'
(R):5'- AGTGCAGTTCCCAATGCCTG -3'

Sequencing Primer
(F):5'- CAGACAGAATGCTTAGTTTGGCCC -3'
(R):5'- AATGCCTGCTCCCAGCC -3'

Posted On

2022-06-15