Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02191:Flvcr2'

283875

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Flvcr2

Ensembl Gene

ENSMUSG00000034258

Gene Name

feline leukemia virus subgroup C cellular receptor 2

Synonyms

Mfsd7c, CCT

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.914) question?

Stock #

IGL02191

Quality Score

Status

Chromosome

Chromosomal Location

85746539-85813585 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 85786192 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 329 (K329*)

Ref Sequence

ENSEMBL: ENSMUSP00000035569 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000040461
AA Change: K329*

SMART Domains

Protein: ENSMUSP00000035569
Gene: ENSMUSG00000034258
AA Change: K329*

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

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	C	12: 80,174,109	I642V	probably benign	Het
Adam5	G	A	8: 24,812,423	R185*	probably null	Het
C2	T	C	17: 34,866,563	I122V	probably damaging	Het
Camsap1	A	G	2: 25,929,880	I1531T	probably damaging	Het
Celsr1	T	C	15: 85,979,004	T1276A	possibly damaging	Het
Cnot7	A	T	8: 40,510,027	N35K	probably benign	Het
Cyp2a12	A	G	7: 27,036,611	I482V	probably benign	Het
Cyp3a57	A	G	5: 145,365,685	E97G	probably damaging	Het
Cyp51	C	A	5: 4,100,147	R192I	probably benign	Het
Ddx59	T	C	1: 136,417,158	L189P	probably damaging	Het
Dnah6	A	G	6: 73,017,797	I4127T	probably benign	Het
Dock3	C	T	9: 106,938,141	V1217I	probably benign	Het
Ergic2	T	C	6: 148,204,821	D57G	probably null	Het
Foxp1	T	C	6: 98,945,600	S327G	probably damaging	Het
Gen1	A	C	12: 11,242,296	H562Q	probably benign	Het
Gjc2	A	G	11: 59,177,560	V32A	probably damaging	Het
Grk4	C	T	5: 34,755,189	H574Y	probably benign	Het
Kif15	T	A	9: 122,975,679	C93S	probably damaging	Het
Lrtm1	A	C	14: 29,021,949	I125L	probably benign	Het
Mrgprb8	A	G	7: 48,388,779	Y66C	probably damaging	Het
Pfn1	G	A	11: 70,654,383	A33V	probably damaging	Het
Scnn1b	A	C	7: 121,917,513	K492Q	probably damaging	Het
Slc22a29	G	A	19: 8,218,681		probably benign	Het
Spocd1	A	G	4: 129,953,587	D523G	probably damaging	Het
Tmem144	A	T	3: 79,826,852	D181E	possibly damaging	Het
Tmem220	G	A	11: 67,031,107	C101Y	probably damaging	Het
Tmpo	A	G	10: 91,161,879	V682A	probably benign	Het
Wdr93	A	G	7: 79,749,220	K34R	probably damaging	Het
Zdhhc16	C	A	19: 41,937,691	C8*	probably null	Het
Zfp318	C	T	17: 46,396,810	R265*	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
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
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

Posted On

2015-04-16