Mutagenetix > Incidental Mutations

Incidental Mutation 'R5639:Flvcr2'

440562

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

043288-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.778) question?

Stock #

R5639 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85746539-85813585 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85747476 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 209 (I209F)

Ref Sequence

ENSEMBL: ENSMUSP00000035569 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000040461
AA Change: I209F

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000035569
Gene: ENSMUSG00000034258
AA Change: I209F

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

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.7%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars	T	C	8: 111,043,234	Y322H	probably benign	Het
Aldh1a1	C	A	19: 20,623,422	T201K	probably damaging	Het
Ankrd26	T	C	6: 118,539,724	E493G	possibly damaging	Het
Armc8	A	G	9: 99,496,149		probably null	Het
Bicc1	A	T	10: 70,940,520	V701E	probably damaging	Het
Car11	T	A	7: 45,702,621		probably null	Het
Celsr1	C	G	15: 86,030,767	V1002L	probably damaging	Het
Clpx	T	A	9: 65,329,830	S597T	probably benign	Het
Cyr61	A	C	3: 145,648,697	V153G	probably damaging	Het
Dmpk	A	G	7: 19,092,600	M545V	probably benign	Het
Dnah7c	C	G	1: 46,739,668	D3139E	probably benign	Het
Drd5	T	A	5: 38,319,835	V57D	possibly damaging	Het
Epc2	A	G	2: 49,451,891	N29S	possibly damaging	Het
Ercc3	T	C	18: 32,265,714	V682A	probably damaging	Het
Fam186a	T	C	15: 99,947,050	K438E	unknown	Het
Farp1	T	A	14: 121,275,382	I764N	probably damaging	Het
Fndc3b	C	T	3: 27,426,153	V1065M	probably damaging	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Gp6	C	A	7: 4,394,131	D102Y	probably damaging	Het
Gpc5	T	C	14: 115,092,747	L114P	probably benign	Het
Kcnq3	T	A	15: 65,997,750	E613V	probably damaging	Het
Krt74	T	G	15: 101,756,760		noncoding transcript	Het
Lipe	T	C	7: 25,383,325	T801A	probably benign	Het
Lman1l	A	T	9: 57,611,866	F266I	probably benign	Het
Lrp1	A	G	10: 127,593,839	V454A	probably damaging	Het
Lsm14a	T	C	7: 34,353,510	D338G	probably damaging	Het
Mctp1	T	C	13: 77,024,783		silent	Het
Mgea5	A	G	19: 45,776,999	I123T	probably damaging	Het
Nlrp4a	G	A	7: 26,457,030	A727T	probably benign	Het
Nrgn	T	C	9: 37,546,048	S48G	probably benign	Het
Olfr1246	T	C	2: 89,590,725	Y130C	probably damaging	Het
Olfr370	T	C	8: 83,541,344	S67P	probably damaging	Het
Olfr564	A	G	7: 102,803,993	S172G	probably benign	Het
Pdia6	A	G	12: 17,278,593	E183G	probably benign	Het
Pign	T	A	1: 105,589,315	I529F	probably benign	Het
Plscr5	A	T	9: 92,205,511	K178*	probably null	Het
Samm50	T	G	15: 84,214,128	I456S	probably benign	Het
Sesn1	A	G	10: 41,811,271	R84G	probably benign	Het
Skint8	C	A	4: 111,950,193	L359M	probably damaging	Het
Spag17	G	T	3: 100,056,166	D1067Y	probably damaging	Het
Sptan1	C	T	2: 29,990,993	Q425*	probably null	Het
Srrm4	T	A	5: 116,591,359	I36F	unknown	Het
Tas1r2	A	T	4: 139,659,796	S189C	probably damaging	Het
Tep1	A	G	14: 50,853,605	V690A	possibly damaging	Het
Trmo	T	C	4: 46,382,073	K348R	probably benign	Het
Trmu	T	A	15: 85,882,698	M36K	probably damaging	Het
Ubr4	A	G	4: 139,452,648	T3380A	possibly damaging	Het
Unc79	A	C	12: 103,171,572	T2425P	probably damaging	Het
Vmn2r12	G	A	5: 109,092,800	T149I	probably benign	Het
Vwa3a	A	C	7: 120,790,143	K68T	probably damaging	Het
Yif1a	T	C	19: 5,088,750		probably null	Het
Zbtb44	A	T	9: 31,054,052	T253S	probably damaging	Het
Zdhhc3	T	C	9: 123,100,345	Y75C	probably damaging	Het
Zfp189	T	A	4: 49,530,153	F419I	probably benign	Het
Zfp663	T	C	2: 165,353,009	D430G	probably benign	Het
Zfp709	T	G	8: 71,889,991		probably null	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
R2402:Flvcr2	UTSW	12	85783003	missense	probably benign	0.12
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
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'- ATGAACTTCTACGGTGTCAGTGC -3'
(R):5'- AGCCCCATCATGGTGAGATG -3'

Sequencing Primer
(F):5'- ATTGGCTGTCCATGTGCTAC -3'
(R):5'- GAGATGCTCTCTCTCTTTGGAACAG -3'

Posted On

2016-11-08