Mutagenetix > Incidental Mutations

Incidental Mutation 'R2402:Flvcr2'

248775

Institutional Source

Beutler Lab

Gene Symbol

Flvcr2

Ensembl Gene

ENSMUSG00000034258

Gene Name

feline leukemia virus subgroup C cellular receptor 2

Synonyms

Mfsd7c, CCT

MMRRC Submission

040368-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.914) question?

Stock #

R2402 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85746539-85813585 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85783003 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 262 (N262S)

Ref Sequence

ENSEMBL: ENSMUSP00000035569 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040461]

Predicted Effect

probably benign
Transcript: ENSMUST00000040461
AA Change: N262S

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000035569
Gene: ENSMUSG00000034258
AA Change: N262S

Domain	Start	End	E-Value	Type
Pfam:MFS_1	113	477	1.7e-30	PFAM
transmembrane domain	488	510	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221585

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.6%
20x: 92.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the major facilitator superfamily. The encoded transmembrane protein is a calcium transporter. Unlike the related protein feline leukemia virus subgroup C receptor 1, the protein encoded by this locus does not bind to feline leukemia virus subgroup C envelope protein. The encoded protein may play a role in development of brain vascular endothelial cells, as mutations at this locus have been associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Aug 2010]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	A	8: 86,509,141	D1199V	probably damaging	Het
Abcc6	A	T	7: 46,015,575	S277R	probably benign	Het
Acvrl1	A	G	15: 101,137,399	S269G	probably damaging	Het
Aes	T	A	10: 81,564,878	C89S	possibly damaging	Het
Akap10	T	C	11: 61,915,222	S227G	probably benign	Het
Angptl8	T	C	9: 21,835,816		probably null	Het
Arsi	T	C	18: 60,916,467	S141P	possibly damaging	Het
Atic	T	A	1: 71,569,057	Y303*	probably null	Het
Bbs9	C	T	9: 22,646,063	P510L	probably benign	Het
Bcl2a1b	A	G	9: 89,199,742	N128S	probably benign	Het
Bcl2a1d	A	T	9: 88,731,496	M75K	probably damaging	Het
Carm1	T	A	9: 21,583,540	L324Q	probably damaging	Het
Caskin1	T	A	17: 24,503,808	L550Q	probably damaging	Het
Cd302	A	G	2: 60,257,068	I142T	probably benign	Het
Cep350	A	T	1: 155,863,136	D2320E	probably benign	Het
Cgnl1	A	G	9: 71,725,179	S297P	probably damaging	Het
Cr1l	T	A	1: 195,106,902	Y398F	probably benign	Het
Ctsa	A	T	2: 164,834,893	D145V	probably benign	Het
Ctsj	C	T	13: 61,000,574	G303D	probably damaging	Het
Dnah17	T	C	11: 118,125,974	I250M	probably benign	Het
Doc2a	C	A	7: 126,848,747	C54*	probably null	Het
Dpy19l2	T	C	9: 24,581,248	T685A	probably damaging	Het
Dtna	T	A	18: 23,595,478	C243*	probably null	Het
Exoc3l4	A	G	12: 111,422,256	T60A	possibly damaging	Het
Exph5	C	A	9: 53,374,925	S1102*	probably null	Het
Fam129a	A	G	1: 151,689,614	T232A	probably benign	Het
Fhl3	T	C	4: 124,705,688	Y19H	probably damaging	Het
Flt4	A	G	11: 49,637,819	E1012G	possibly damaging	Het
Gon4l	G	T	3: 88,859,043	C463F	probably damaging	Het
H2-T10	A	T	17: 36,117,739		probably null	Het
Heatr3	T	C	8: 88,144,572	C185R	probably benign	Het
Hectd1	A	G	12: 51,745,534	V2474A	probably benign	Het
Htr3a	C	T	9: 48,901,495	E215K	probably damaging	Het
Ica1l	T	C	1: 60,006,292	T271A	probably benign	Het
Klra2	A	G	6: 131,243,901	I66T	probably benign	Het
Neto2	T	C	8: 85,690,912	K21R	probably benign	Het
Nisch	T	A	14: 31,185,014		probably benign	Het
Nr4a1	G	T	15: 101,271,737	R296L	probably damaging	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Olfr832	T	A	9: 18,945,200	I184N	probably damaging	Het
Olfr914	T	C	9: 38,607,101	V212A	probably benign	Het
Pcsk5	A	T	19: 17,474,834	C1102*	probably null	Het
Phip	C	T	9: 82,875,305	A1605T	probably benign	Het
Pstpip2	T	A	18: 77,854,864	M105K	possibly damaging	Het
Qprt	C	T	7: 127,108,360	V219I	probably benign	Het
Ralgapa2	A	T	2: 146,353,192	N1271K	probably damaging	Het
Reg3g	A	T	6: 78,467,492	L106H	probably damaging	Het
Rhobtb1	G	A	10: 69,270,424	G273D	probably benign	Het
Rimbp2	T	C	5: 128,784,888	D771G	probably damaging	Het
Sos2	T	C	12: 69,596,799	I935V	possibly damaging	Het
Tcf12	A	T	9: 71,856,510	N397K	probably damaging	Het
Tgtp2	T	C	11: 49,059,130	Q205R	probably benign	Het
Tubb2b	T	C	13: 34,128,226	N195D	probably benign	Het
Unc13b	A	G	4: 43,095,843	T84A	probably benign	Het
Usb1	T	A	8: 95,343,131	F102L	probably benign	Het
Vmn2r61	A	G	7: 42,300,105	T650A	possibly damaging	Het
Zbtb41	A	C	1: 139,423,185	D12A	probably benign	Het
Zbtb41	G	T	1: 139,423,187	E13*	probably null	Het
Zfp821	C	T	8: 109,721,240	S71F	probably damaging	Het

Other mutations in Flvcr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00555:Flvcr2	APN	12	85747323	missense	possibly damaging	0.91
IGL01461:Flvcr2	APN	12	85803131	splice site	probably benign
IGL02191:Flvcr2	APN	12	85786192	nonsense	probably null
IGL02643:Flvcr2	APN	12	85796223	missense	possibly damaging	0.96
IGL02933:Flvcr2	APN	12	85803128	splice site	probably benign
pulga	UTSW	12	85747191	missense	possibly damaging	0.94
R1792:Flvcr2	UTSW	12	85747155	nonsense	probably null
R1840:Flvcr2	UTSW	12	85803221	missense	possibly damaging	0.91
R4120:Flvcr2	UTSW	12	85786129	missense	probably benign	0.31
R4900:Flvcr2	UTSW	12	85782982	missense	probably damaging	0.98
R5417:Flvcr2	UTSW	12	85747191	missense	probably damaging	0.97
R5559:Flvcr2	UTSW	12	85804407	missense	probably benign	0.21
R5639:Flvcr2	UTSW	12	85747476	missense	probably benign	0.03
R5891:Flvcr2	UTSW	12	85796228	missense	possibly damaging	0.74
R6347:Flvcr2	UTSW	12	85747420	missense	possibly damaging	0.66
R6349:Flvcr2	UTSW	12	85747200	missense	probably benign	0.30
R7082:Flvcr2	UTSW	12	85746954	missense	probably benign	0.03
R7179:Flvcr2	UTSW	12	85747191	missense	possibly damaging	0.94
R7241:Flvcr2	UTSW	12	85805239	missense	probably benign
R7459:Flvcr2	UTSW	12	85747057	missense	probably benign	0.14
R8030:Flvcr2	UTSW	12	85798538	missense	probably damaging	0.97
R8384:Flvcr2	UTSW	12	85796193	missense	possibly damaging	0.95
RF013:Flvcr2	UTSW	12	85747186	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATGTGTGTATAGCATGTACATGTGC -3'
(R):5'- ATGTTCAAAGGGTGCCACCAG -3'

Sequencing Primer
(F):5'- TCCTTCCAATGCTGGGATGACAG -3'
(R):5'- GTGCCACCAGGGTTGACATAAC -3'

Posted On

2014-11-11