Mutagenetix > Incidental Mutations

Incidental Mutation 'R6347:Flvcr2'

520070

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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.778) question?

Stock #

R6347 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85746539-85813585 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85747420 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 190 (V190A)

Ref Sequence

ENSEMBL: ENSMUSP00000035569 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040461
AA Change: V190A

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000035569
Gene: ENSMUSG00000034258
AA Change: V190A

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

Meta Mutation Damage Score

0.1141

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.6%
20x: 92.3%

Validation Efficiency

95% (41/43)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021F07Rik	G	T	2: 173,527,915	R74L	possibly damaging	Het
Atat1	A	G	17: 35,910,029	F3L	probably damaging	Het
Atf7	T	A	15: 102,546,479	M285L	possibly damaging	Het
Bcl7b	T	C	5: 135,180,533	S95P	possibly damaging	Het
Cald1	A	C	6: 34,765,046	K453Q	probably damaging	Het
Cog4	A	T	8: 110,880,643	I580F	probably damaging	Het
Cpq	T	A	15: 33,290,186		probably null	Het
Csf2rb	G	A	15: 78,345,552	D440N	probably damaging	Het
Dst	A	G	1: 34,179,684		probably null	Het
Eif2b3	T	C	4: 117,044,566	V142A	probably benign	Het
Fat3	A	T	9: 15,998,372	N2111K	probably damaging	Het
Fbxo31	C	A	8: 121,578,459	E99D	possibly damaging	Het
Fgfr2	T	C	7: 130,261,757	E34G	probably damaging	Het
Herc2	T	C	7: 56,194,403		probably null	Het
Igkv3-2	A	C	6: 70,699,033	M109L	probably benign	Het
Il1f5	G	A	2: 24,279,714	A29T	probably damaging	Het
Kif13b	C	T	14: 64,767,619	T1120I	probably benign	Het
Kmt2c	A	G	5: 25,310,835	I2670T	possibly damaging	Het
Lcp2	A	G	11: 34,082,501	M360V	probably benign	Het
Ldlrad4	A	G	18: 68,235,780	S103G	probably benign	Het
Loxl4	T	C	19: 42,608,270	K88E	probably damaging	Het
Ltbp2	C	A	12: 84,853,912	R192L	probably damaging	Het
Mast2	C	A	4: 116,317,732	G475V	probably damaging	Het
Meis1	A	C	11: 18,905,631		probably null	Het
Mroh3	T	C	1: 136,200,937		probably null	Het
Myo5b	C	T	18: 74,770,385	A1824V	probably benign	Het
Nectin3	C	T	16: 46,458,124	V303M	probably benign	Het
Olfr472	T	C	7: 107,902,950	S78P	possibly damaging	Het
Peak1	T	C	9: 56,258,211	N811S	probably benign	Het
Pik3ca	C	T	3: 32,462,821	A1066V	probably benign	Het
Rnf103	A	G	6: 71,505,824	T153A	possibly damaging	Het
Sacs	G	A	14: 61,211,160	V3552I	probably damaging	Het
Sgca	A	T	11: 94,972,028	N109K	probably damaging	Het
Speg	T	A	1: 75,426,875	M2621K	probably benign	Het
Stfa2l1	T	C	16: 36,156,901	I22T	probably damaging	Het
Tbpl2	G	A	2: 24,094,703	P144L	probably benign	Het
Tmem219	T	C	7: 126,896,826	N119S	possibly damaging	Het
Ush2a	A	G	1: 188,910,887	T4149A	probably benign	Het
Wdr46	C	A	17: 33,941,852	P197T	probably damaging	Het
Wee2	C	T	6: 40,455,105	R203C	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
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
R5639:Flvcr2	UTSW	12	85747476	missense	probably benign	0.03
R5891:Flvcr2	UTSW	12	85796228	missense	possibly damaging	0.74
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'- GTGGATTCAGTACGGCTCCATC -3'
(R):5'- TCTTTGGAACAGCCGTCCAC -3'

Sequencing Primer
(F):5'- GGATTCAGTACGGCTCCATCAATAAC -3'
(R):5'- GCCCTCTACTCACCTGATTG -3'

Posted On

2018-06-06