Mutagenetix > Incidental Mutation

Incidental Mutation 'R1168:Mrvi1'

101320

Institutional Source

Beutler Lab

Gene Symbol

Mrvi1

Ensembl Gene

ENSMUSG00000005611

Gene Name

MRV integration site 1

Synonyms

Ris1

MMRRC Submission

039241-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R1168 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110868266-110982461 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110895931 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 429 (K429R)

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 damaging
Transcript: ENSMUST00000005751
AA Change: K570R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000005751
Gene: ENSMUSG00000005611
AA Change: K570R

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 damaging
Transcript: ENSMUST00000125758
AA Change: K635R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114578
Gene: ENSMUSG00000005611
AA Change: K635R

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 damaging
Transcript: ENSMUST00000127935
AA Change: K429R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120045
Gene: ENSMUSG00000005611
AA Change: K429R

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

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.2%
20x: 88.8%

Validation Efficiency

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,067,900	V950A	probably benign	Het
4930452B06Rik	T	C	14: 8,442,939	N610S	probably benign	Het
Adgrb3	A	T	1: 25,826,199	S188T	probably benign	Het
Ahr	A	T	12: 35,504,532	N529K	possibly damaging	Het
Akr1c21	A	G	13: 4,583,837	N302D	probably benign	Het
Aldh8a1	T	A	10: 21,384,631		probably null	Het
Alpk3	A	T	7: 81,103,357	K1554M	probably damaging	Het
Arhgef5	T	A	6: 43,273,396	H360Q	probably benign	Het
Cacna1a	A	G	8: 84,579,501	I1293V	probably damaging	Het
Cacna2d4	C	T	6: 119,307,286	R745W	probably damaging	Het
Cd200r4	T	A	16: 44,832,944	W72R	probably damaging	Het
Ces2e	A	T	8: 104,927,014	D28V	possibly damaging	Het
Cfap45	T	C	1: 172,545,697	Y534H	probably damaging	Het
Cfap54	A	T	10: 92,937,920	C87S	probably damaging	Het
Chmp7	C	T	14: 69,719,450	M336I	probably benign	Het
Chrna4	T	A	2: 181,034,138	M67L	possibly damaging	Het
Cts7	T	A	13: 61,353,817	N290Y	probably damaging	Het
Enpp6	A	T	8: 47,030,454	M94L	probably damaging	Het
Fam83d	C	T	2: 158,768,523	A137V	probably benign	Het
Foxd2	C	T	4: 114,907,678	A382T	possibly damaging	Het
Galnt11	T	G	5: 25,250,246	S193R	probably damaging	Het
Gapvd1	A	T	2: 34,704,469	D856E	probably damaging	Het
Gclm	T	A	3: 122,262,688	H86Q	possibly damaging	Het
Gipc2	T	C	3: 152,107,997	T220A	probably benign	Het
Gm12185	G	T	11: 48,915,355	N336K	possibly damaging	Het
Gm5431	A	T	11: 48,895,364	S61R	probably benign	Het
Gm884	T	C	11: 103,618,950		probably benign	Het
Gorasp2	C	T	2: 70,688,400	P260S	probably damaging	Het
H2-M10.6	A	G	17: 36,813,160	Q172R	probably benign	Het
Ibsp	A	G	5: 104,302,152	I6V	probably damaging	Het
Iqsec1	T	C	6: 90,689,676	Y593C	probably damaging	Het
Itln1	G	T	1: 171,531,551	Y61*	probably null	Het
Kif21a	G	A	15: 90,993,753	T284I	probably damaging	Het
Kif3a	G	A	11: 53,598,312	G621R	probably damaging	Het
Klb	A	G	5: 65,378,974	Y549C	probably damaging	Het
Lman1l	G	A	9: 57,608,312	R427C	probably benign	Het
Map4	T	C	9: 110,034,964	V419A	probably benign	Het
Mastl	A	T	2: 23,133,132	D526E	probably benign	Het
Mtif2	A	G	11: 29,536,914	D308G	probably benign	Het
Ncald	A	G	15: 37,397,334	F34S	probably damaging	Het
Ndc1	A	G	4: 107,395,812	T593A	probably benign	Het
Ndst3	C	T	3: 123,606,968	V15I	probably benign	Het
Nup214	A	G	2: 32,025,301	N1166D	probably benign	Het
Olfr1031	A	T	2: 85,992,684	Y289F	probably damaging	Het
Olfr1240	G	A	2: 89,439,869	Q137*	probably null	Het
Olfr1368	A	G	13: 21,142,617	S147P	probably benign	Het
Olfr403	A	G	11: 74,196,421	H306R	probably benign	Het
Pcdhb8	T	C	18: 37,356,727	I486T	probably benign	Het
Pdzrn4	A	T	15: 92,770,271	Y768F	probably benign	Het
Pgf	A	G	12: 85,171,767	S70P	probably benign	Het
Plcl2	G	A	17: 50,607,072	A370T	possibly damaging	Het
Pnkp	T	A	7: 44,862,537	W115R	probably benign	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Prag1	A	G	8: 36,146,645	E1117G	probably damaging	Het
Prr12	T	A	7: 45,029,047	Q1919L	unknown	Het
Ret	G	T	6: 118,173,558	H666N	possibly damaging	Het
Rfwd3	C	T	8: 111,288,242	R326Q	probably damaging	Het
Robo2	C	T	16: 73,948,296	G864S	probably damaging	Het
Rpa2	T	G	4: 132,771,860	I80S	probably damaging	Het
Ryk	A	T	9: 102,898,475	D428V	probably damaging	Het
Slc29a1	A	T	17: 45,590,278	N30K	probably damaging	Het
Stbd1	A	G	5: 92,604,936	N95S	probably benign	Het
Tbc1d22a	A	G	15: 86,292,134	E212G	probably benign	Het
Tex14	A	G	11: 87,536,742	T7A	probably benign	Het
Tmc8	T	C	11: 117,792,563	V648A	possibly damaging	Het
Tmem132b	G	T	5: 125,787,019	V730F	probably damaging	Het
Tmub2	G	A	11: 102,287,370	G33D	possibly damaging	Het
Trak1	G	A	9: 121,440,679	D124N	probably damaging	Het
Ttc28	A	T	5: 111,231,111	Y1154F	probably damaging	Het
Ttn	T	C	2: 76,909,369	T3609A	probably benign	Het
Tulp2	A	G	7: 45,517,842	T99A	probably benign	Het
Ugt2a2	A	T	5: 87,465,568		probably null	Het
Ush2a	G	A	1: 188,678,411	V2419I	probably benign	Het
Vill	C	A	9: 119,070,321	P343Q	probably damaging	Het
Vmn2r66	T	A	7: 85,006,854	H318L	possibly damaging	Het
Wdr3	A	C	3: 100,142,219	N800K	probably benign	Het
Wdr93	A	G	7: 79,749,174	K19E	probably damaging	Het
Wrn	A	G	8: 33,316,408	S333P	probably damaging	Het
Zfp418	T	C	7: 7,182,501	S488P	possibly damaging	Het
Zfp804a	A	G	2: 82,256,697	E290G	probably benign	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
R0731:Mrvi1	UTSW	7	110876900	missense	probably benign	0.00
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

Posted On

2014-01-15