Mutagenetix > Incidental Mutation

Incidental Mutation 'R0731:Mrvi1'

67556

Institutional Source

Beutler Lab

Gene Symbol

Mrvi1

Ensembl Gene

ENSMUSG00000005611

Gene Name

MRV integration site 1

Synonyms

Ris1

MMRRC Submission

038912-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R0731 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

110868266-110982461 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110876900 bp (GRCm38)

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
4930430F08Rik	T	C	10: 100,586,203	T66A	probably damaging	Het
4933406M09Rik	A	C	1: 134,389,975	M162L	probably benign	Het
Acsm3	A	T	7: 119,768,024	R27*	probably null	Het
Actg1	A	G	11: 120,346,949	F255S	probably damaging	Het
Ahdc1	T	A	4: 133,062,951	V501E	possibly damaging	Het
Alpk2	A	T	18: 65,305,390	D1444E	probably damaging	Het
Btaf1	T	G	19: 36,997,495		probably null	Het
Cacnb2	A	G	2: 14,985,706	H489R	possibly damaging	Het
Ccdc162	C	A	10: 41,579,143	K398N	probably damaging	Het
Cd79b	G	T	11: 106,312,433	S145R	probably damaging	Het
Cdh11	T	A	8: 102,668,019	N264Y	probably damaging	Het
Celsr1	T	C	15: 85,901,597	D2892G	probably benign	Het
Chuk	A	G	19: 44,103,766		probably benign	Het
Clk3	T	C	9: 57,751,126		probably benign	Het
Dcaf8	A	T	1: 172,172,509	D78V	possibly damaging	Het
Dctn1	A	G	6: 83,183,089	T87A	probably damaging	Het
Ddx50	T	C	10: 62,616,249	N732D	unknown	Het
Dnah5	A	T	15: 28,311,143	Y1756F	possibly damaging	Het
Dock3	A	T	9: 106,969,856	V858E	probably damaging	Het
Fer1l4	A	G	2: 156,024,070	F1566S	probably benign	Het
Fpr-rs7	T	C	17: 20,113,854	I125V	probably benign	Het
Fuca2	C	T	10: 13,506,027	P228L	probably benign	Het
Galntl6	A	G	8: 58,535,984	F57L	probably benign	Het
Gigyf2	T	A	1: 87,407,727		probably benign	Het
Gm16505	A	T	13: 3,361,329		noncoding transcript	Het
Gm4781	T	C	10: 100,396,777		noncoding transcript	Het
Gm9956	T	A	10: 56,745,543	Y100*	probably null	Het
Gpr137c	T	A	14: 45,246,349	C178S	probably damaging	Het
Gpr83	A	G	9: 14,868,644	R331G	probably benign	Het
Hlcs	T	A	16: 94,131,852	H851L	probably damaging	Het
Kbtbd6	C	A	14: 79,451,884	Y6*	probably null	Het
Kif23	T	C	9: 61,925,032	R610G	possibly damaging	Het
Kifc3	G	A	8: 95,105,733	T487I	probably damaging	Het
Klra5	A	C	6: 129,908,796	D133E	possibly damaging	Het
Klra6	T	C	6: 130,022,705	E100G	probably damaging	Het
Klre1	T	A	6: 129,585,568		probably benign	Het
Lancl1	C	T	1: 67,009,910		probably null	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Man1b1	A	G	2: 25,338,155	I146V	possibly damaging	Het
Map4k5	T	A	12: 69,874,264		probably benign	Het
Mast3	A	G	8: 70,781,321	S178P	probably damaging	Het
Mau2	A	G	8: 70,023,612		probably null	Het
Mkrn2	A	T	6: 115,614,651	N312Y	probably damaging	Het
Myh1	A	G	11: 67,202,533	E150G	probably damaging	Het
Myo7b	T	A	18: 31,961,825		probably null	Het
Nyap1	A	G	5: 137,735,298	V491A	probably damaging	Het
Olfr1284	A	G	2: 111,379,293	M98V	probably damaging	Het
Olfr484	T	C	7: 108,124,734	I176M	probably benign	Het
Olfr518	A	T	7: 108,881,533	N24K	probably damaging	Het
Olfr954	T	C	9: 39,461,532	F34L	probably damaging	Het
Oxsm	A	T	14: 16,240,893	H385Q	probably damaging	Het
Pbld2	T	C	10: 63,056,811	S242P	probably damaging	Het
Pdzd7	T	C	19: 45,029,305	Y675C	probably damaging	Het
Pnkd	T	A	1: 74,351,541	H266Q	probably damaging	Het
Rbfox2	A	G	15: 77,099,279	S141P	probably benign	Het
Rdx	A	G	9: 52,068,218	T214A	probably benign	Het
Ripor2	A	T	13: 24,680,644	E219V	probably damaging	Het
Rufy2	G	A	10: 63,011,844		probably benign	Het
Slf2	T	A	19: 44,975,726		probably benign	Het
Snrnp200	G	T	2: 127,226,145		probably benign	Het
Snx7	T	A	3: 117,829,671		probably benign	Het
Stt3a	T	C	9: 36,735,512	I602V	probably damaging	Het
Tacr3	G	A	3: 134,855,000		probably null	Het
Tcerg1	C	T	18: 42,571,840	T978M	probably damaging	Het
Tcf7l1	G	T	6: 72,788,269	P126Q	possibly damaging	Het
Trank1	A	G	9: 111,365,488	D860G	probably damaging	Het
Try4	T	C	6: 41,304,367	L81P	probably benign	Het
Ucp1	T	C	8: 83,297,847		probably benign	Het
Ugt2b38	G	A	5: 87,420,452	A328V	probably damaging	Het
Wfikkn1	T	A	17: 25,878,017	R444S	probably damaging	Het
Zfc3h1	A	G	10: 115,410,632	T875A	probably benign	Het
Zfp11	A	G	5: 129,657,264	S378P	probably damaging	Het
Zfp984	T	A	4: 147,756,232	N54I	probably damaging	Het

Other mutations in Mrvi1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01079:Mrvi1	APN	7	110945967	missense	possibly damaging	0.64
IGL01384:Mrvi1	APN	7	110926501	missense	possibly damaging	0.89
IGL01474:Mrvi1	APN	7	110871433	missense	possibly damaging	0.65
IGL02081:Mrvi1	APN	7	110924074	critical splice acceptor site	probably null
IGL02193:Mrvi1	APN	7	110898955	missense	probably damaging	1.00
IGL02537:Mrvi1	APN	7	110871473	nonsense	probably null
IGL03084:Mrvi1	APN	7	110885829	splice site	probably benign
IGL03264:Mrvi1	APN	7	110926346	missense	probably benign	0.00
hurricane	UTSW	7	110923963	missense	probably benign	0.09
R0346:Mrvi1	UTSW	7	110898976	missense	probably damaging	1.00
R0401:Mrvi1	UTSW	7	110876897	missense	probably benign	0.09
R1168:Mrvi1	UTSW	7	110895931	missense	probably damaging	1.00
R1342:Mrvi1	UTSW	7	110888045	missense	probably benign	0.07
R1887:Mrvi1	UTSW	7	110924533	critical splice donor site	probably null
R2183:Mrvi1	UTSW	7	110898982	missense	probably damaging	1.00
R3417:Mrvi1	UTSW	7	110876954	missense	possibly damaging	0.90
R3736:Mrvi1	UTSW	7	110923963	missense	probably benign	0.09
R4063:Mrvi1	UTSW	7	110923777	missense	probably benign	0.38
R4436:Mrvi1	UTSW	7	110876917	missense	probably damaging	1.00
R4523:Mrvi1	UTSW	7	110923841	missense	probably benign	0.02
R4948:Mrvi1	UTSW	7	110888029	missense	probably damaging	1.00
R5070:Mrvi1	UTSW	7	110925312	missense	probably benign
R5085:Mrvi1	UTSW	7	110871493	missense	probably damaging	1.00
R5605:Mrvi1	UTSW	7	110946002	missense	possibly damaging	0.85
R6194:Mrvi1	UTSW	7	110899694	missense	probably damaging	1.00
R6218:Mrvi1	UTSW	7	110876905	missense	probably benign	0.00
R6273:Mrvi1	UTSW	7	110871583	missense	probably benign	0.01
R6608:Mrvi1	UTSW	7	110888551	missense	probably damaging	1.00
R6754:Mrvi1	UTSW	7	110929512	missense	probably damaging	1.00
R6835:Mrvi1	UTSW	7	110921334	missense	probably damaging	1.00
R7064:Mrvi1	UTSW	7	110895854	missense	probably damaging	1.00
R7304:Mrvi1	UTSW	7	110899724	missense	possibly damaging	0.77
R7412:Mrvi1	UTSW	7	110923756	missense	probably benign	0.06
R7420:Mrvi1	UTSW	7	110871473	nonsense	probably null
R7857:Mrvi1	UTSW	7	110923535	nonsense	probably null
R8078:Mrvi1	UTSW	7	110899735	missense	probably damaging	1.00
R8139:Mrvi1	UTSW	7	110899672	critical splice donor site	probably null
R8280:Mrvi1	UTSW	7	110923621	missense	possibly damaging	0.82
R8733:Mrvi1	UTSW	7	110878218	missense	probably benign	0.02
R8946:Mrvi1	UTSW	7	110878140	critical splice donor site	probably null
R9150:Mrvi1	UTSW	7	110898998	missense	probably benign	0.12
R9321:Mrvi1	UTSW	7	110925327	missense	probably benign	0.03
R9373:Mrvi1	UTSW	7	110945831	critical splice donor site	probably null
R9445:Mrvi1	UTSW	7	110945954	missense	possibly damaging	0.71
R9482:Mrvi1	UTSW	7	110946052	missense	probably benign	0.03
R9715:Mrvi1	UTSW	7	110871433	missense	possibly damaging	0.65
X0065:Mrvi1	UTSW	7	110924044	missense	probably benign	0.31
Z1176:Mrvi1	UTSW	7	110923999	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