Mutagenetix > Incidental Mutation

Incidental Mutation 'R0731:Irag1'

67556

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

038912-MU

Accession Numbers

Essential gene?

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

Stock #

R0731 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

110467473-110581668 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110476107 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 615 (S615G)

Ref Sequence

ENSEMBL: ENSMUSP00000120045 (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: S756G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000005751
Gene: ENSMUSG00000005611
AA Change: S756G

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

probably benign
Transcript: ENSMUST00000125758
AA Change: S821G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000114578
Gene: ENSMUSG00000005611
AA Change: S821G

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: ENSMUST00000127935
AA Change: S615G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000120045
Gene: ENSMUSG00000005611
AA Change: S615G

Domain	Start	End	E-Value	Type
Pfam:MRVI1	124	715	7.9e-228	PFAM

Meta Mutation Damage Score

0.0581

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

97% (73/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	A	T	7: 119,367,247 (GRCm39)	R27*	probably null	Het
Actg1	A	G	11: 120,237,775 (GRCm39)	F255S	probably damaging	Het
Ahdc1	T	A	4: 132,790,262 (GRCm39)	V501E	possibly damaging	Het
Alpk2	A	T	18: 65,438,461 (GRCm39)	D1444E	probably damaging	Het
Btaf1	T	G	19: 36,974,895 (GRCm39)		probably null	Het
Cacnb2	A	G	2: 14,990,517 (GRCm39)	H489R	possibly damaging	Het
Ccdc162	C	A	10: 41,455,139 (GRCm39)	K398N	probably damaging	Het
Cd79b	G	T	11: 106,203,259 (GRCm39)	S145R	probably damaging	Het
Cdh11	T	A	8: 103,394,651 (GRCm39)	N264Y	probably damaging	Het
Celsr1	T	C	15: 85,785,798 (GRCm39)	D2892G	probably benign	Het
Chuk	A	G	19: 44,092,205 (GRCm39)		probably benign	Het
Clk3	T	C	9: 57,658,409 (GRCm39)		probably benign	Het
Dcaf8	A	T	1: 172,000,076 (GRCm39)	D78V	possibly damaging	Het
Dctn1	A	G	6: 83,160,071 (GRCm39)	T87A	probably damaging	Het
Ddx50	T	C	10: 62,452,028 (GRCm39)	N732D	unknown	Het
Dnah5	A	T	15: 28,311,289 (GRCm39)	Y1756F	possibly damaging	Het
Dock3	A	T	9: 106,847,055 (GRCm39)	V858E	probably damaging	Het
Fer1l4	A	G	2: 155,865,990 (GRCm39)	F1566S	probably benign	Het
Fpr-rs7	T	C	17: 20,334,116 (GRCm39)	I125V	probably benign	Het
Fuca2	C	T	10: 13,381,771 (GRCm39)	P228L	probably benign	Het
Galntl6	A	G	8: 58,989,018 (GRCm39)	F57L	probably benign	Het
Gigyf2	T	A	1: 87,335,449 (GRCm39)		probably benign	Het
Gm16505	A	T	13: 3,411,329 (GRCm39)		noncoding transcript	Het
Gm4781	T	C	10: 100,232,639 (GRCm39)		noncoding transcript	Het
Gm9956	T	A	10: 56,621,639 (GRCm39)	Y100*	probably null	Het
Gpr137c	T	A	14: 45,483,806 (GRCm39)	C178S	probably damaging	Het
Gpr83	A	G	9: 14,779,940 (GRCm39)	R331G	probably benign	Het
Hlcs	T	A	16: 93,932,711 (GRCm39)	H851L	probably damaging	Het
Kbtbd6	C	A	14: 79,689,324 (GRCm39)	Y6*	probably null	Het
Kif23	T	C	9: 61,832,314 (GRCm39)	R610G	possibly damaging	Het
Kifc3	G	A	8: 95,832,361 (GRCm39)	T487I	probably damaging	Het
Klra5	A	C	6: 129,885,759 (GRCm39)	D133E	possibly damaging	Het
Klra6	T	C	6: 129,999,668 (GRCm39)	E100G	probably damaging	Het
Klre1	T	A	6: 129,562,531 (GRCm39)		probably benign	Het
Lancl1	C	T	1: 67,049,069 (GRCm39)		probably null	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Man1b1	A	G	2: 25,228,167 (GRCm39)	I146V	possibly damaging	Het
Map4k5	T	A	12: 69,921,038 (GRCm39)		probably benign	Het
Mast3	A	G	8: 71,233,965 (GRCm39)	S178P	probably damaging	Het
Mau2	A	G	8: 70,476,262 (GRCm39)		probably null	Het
Mgat4f	A	C	1: 134,317,713 (GRCm39)	M162L	probably benign	Het
Mkrn2	A	T	6: 115,591,612 (GRCm39)	N312Y	probably damaging	Het
Myh1	A	G	11: 67,093,359 (GRCm39)	E150G	probably damaging	Het
Myo7b	T	A	18: 32,094,878 (GRCm39)		probably null	Het
Nyap1	A	G	5: 137,733,560 (GRCm39)	V491A	probably damaging	Het
Or10a3	A	T	7: 108,480,740 (GRCm39)	N24K	probably damaging	Het
Or4g17	A	G	2: 111,209,638 (GRCm39)	M98V	probably damaging	Het
Or5p60	T	C	7: 107,723,941 (GRCm39)	I176M	probably benign	Het
Or8g34	T	C	9: 39,372,828 (GRCm39)	F34L	probably damaging	Het
Oxsm	A	T	14: 16,240,893 (GRCm38)	H385Q	probably damaging	Het
Pbld2	T	C	10: 62,892,590 (GRCm39)	S242P	probably damaging	Het
Pdzd7	T	C	19: 45,017,744 (GRCm39)	Y675C	probably damaging	Het
Pnkd	T	A	1: 74,390,700 (GRCm39)	H266Q	probably damaging	Het
Rbfox2	A	G	15: 76,983,479 (GRCm39)	S141P	probably benign	Het
Rdx	A	G	9: 51,979,518 (GRCm39)	T214A	probably benign	Het
Ripor2	A	T	13: 24,864,627 (GRCm39)	E219V	probably damaging	Het
Rlig1	T	C	10: 100,422,065 (GRCm39)	T66A	probably damaging	Het
Rufy2	G	A	10: 62,847,623 (GRCm39)		probably benign	Het
Slf2	T	A	19: 44,964,165 (GRCm39)		probably benign	Het
Snrnp200	G	T	2: 127,068,065 (GRCm39)		probably benign	Het
Snx7	T	A	3: 117,623,320 (GRCm39)		probably benign	Het
Stt3a	T	C	9: 36,646,808 (GRCm39)	I602V	probably damaging	Het
Tacr3	G	A	3: 134,560,761 (GRCm39)		probably null	Het
Tcerg1	C	T	18: 42,704,905 (GRCm39)	T978M	probably damaging	Het
Tcf7l1	G	T	6: 72,765,252 (GRCm39)	P126Q	possibly damaging	Het
Trank1	A	G	9: 111,194,556 (GRCm39)	D860G	probably damaging	Het
Try4	T	C	6: 41,281,301 (GRCm39)	L81P	probably benign	Het
Ucp1	T	C	8: 84,024,476 (GRCm39)		probably benign	Het
Ugt2b38	G	A	5: 87,568,311 (GRCm39)	A328V	probably damaging	Het
Wfikkn1	T	A	17: 26,096,991 (GRCm39)	R444S	probably damaging	Het
Zfc3h1	A	G	10: 115,246,537 (GRCm39)	T875A	probably benign	Het
Zfp11	A	G	5: 129,734,328 (GRCm39)	S378P	probably damaging	Het
Zfp984	T	A	4: 147,840,689 (GRCm39)	N54I	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
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'- CAGGCAAGAATGTCCTGTGT -3'

Posted On

2013-09-03