Mutagenetix > Incidental Mutations

Incidental Mutation 'R4120:Flvcr2'

315293

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

040993-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.914) question?

Stock #

R4120 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85746539-85813585 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85786129 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 308 (S308P)

Ref Sequence

ENSEMBL: ENSMUSP00000035569 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000040461
AA Change: S308P

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000035569
Gene: ENSMUSG00000034258
AA Change: S308P

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

Meta Mutation Damage Score

0.1368

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

93% (55/59)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	C	A	1: 25,094,307	E1233*	probably null	Het
Afap1l1	T	C	18: 61,739,172	D526G	probably damaging	Het
Ago4	A	G	4: 126,496,807	Y807H	probably damaging	Het
Ankfy1	G	A	11: 72,714,484		probably null	Het
Arhgap40	A	G	2: 158,532,330	M222V	probably benign	Het
Asnsd1	A	G	1: 53,347,995	S158P	probably damaging	Het
C130026I21Rik	C	T	1: 85,259,821	V81M	possibly damaging	Het
Cdh15	T	C	8: 122,863,423	V365A	probably damaging	Het
Clca3a2	T	C	3: 144,810,852	M328V	probably benign	Het
Col4a1	G	A	8: 11,206,263	P1535S	unknown	Het
Dennd2a	G	A	6: 39,465,096	R947C	probably damaging	Het
Dlg2	G	A	7: 91,965,638	V217I	probably damaging	Het
Dnaaf2	T	C	12: 69,198,038	D83G	possibly damaging	Het
Dppa5a	A	T	9: 78,367,855	M55K	possibly damaging	Het
Ect2l	A	G	10: 18,130,718	V779A	probably benign	Het
Ehhadh	A	G	16: 21,763,184	S353P	probably benign	Het
Etv3	A	G	3: 87,536,282	D391G	probably benign	Het
Fastkd1	T	A	2: 69,707,310	K309N	probably damaging	Het
Fip1l1	T	A	5: 74,588,191	Y375N	probably damaging	Het
Fyco1	T	C	9: 123,825,626	Y1065C	probably benign	Het
Gfra2	A	G	14: 70,966,275	D31G	probably damaging	Het
Gm17175	A	T	14: 51,573,077	I31N	probably damaging	Het
Gm6003	T	A	7: 33,165,551		noncoding transcript	Het
Gm9951	T	C	8: 34,055,839		noncoding transcript	Het
Hspa2	A	G	12: 76,405,234	E234G	probably damaging	Het
Ip6k2	G	A	9: 108,805,648	R319Q	probably benign	Het
Iqsec1	A	T	6: 90,662,602	Y1065*	probably null	Het
Ltk	T	A	2: 119,757,948		probably benign	Het
Map2	G	A	1: 66,415,904	A1318T	probably damaging	Het
Mas1	A	T	17: 12,842,346	N63K	probably damaging	Het
Myo15b	T	C	11: 115,873,492	S1311P	probably benign	Het
Nav3	A	G	10: 109,903,744		probably null	Het
Nlrp1c-ps	T	C	11: 71,242,533		noncoding transcript	Het
Oca2	A	T	7: 56,254,882	D32V	probably damaging	Het
Olfr624	T	C	7: 103,671,014	T6A	probably benign	Het
Olfr877	T	C	9: 37,855,409	L197S	possibly damaging	Het
Otub2	T	C	12: 103,404,230	V257A	probably damaging	Het
Pink1	G	A	4: 138,315,511	R461*	probably null	Het
Plxna2	T	C	1: 194,780,627	C901R	probably damaging	Het
Ptchd3	T	A	11: 121,830,746	N148K	probably damaging	Het
Ralgapa1	C	T	12: 55,640,644	R2019Q	probably damaging	Het
Ripor1	T	A	8: 105,618,857		probably benign	Het
Sec13	T	C	6: 113,734,676	N107S	probably damaging	Het
Slc12a2	A	G	18: 57,899,355	M376V	possibly damaging	Het
Sptbn5	T	A	2: 120,064,529	D798V	possibly damaging	Het
Stradb	T	A	1: 58,980,009	Y30N	possibly damaging	Het
Syne1	T	A	10: 5,409,798	Q328L	probably damaging	Het
Ttc23l	A	C	15: 10,539,920	V159G	probably damaging	Het
Vmn2r100	T	C	17: 19,531,953	S753P	probably damaging	Het
Vmn2r39	G	A	7: 9,023,674	H443Y	probably benign	Het
Vmn2r-ps159	G	T	4: 156,334,483		noncoding transcript	Het
Zfp936	A	G	7: 43,190,206	T366A	probably benign	Het
Zkscan3	T	C	13: 21,393,949	E256G	possibly 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
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'- CGATGTTTCCAGCCCTGTAG -3'
(R):5'- AGCTGGTCAGGCACATTTGG -3'

Sequencing Primer
(F):5'- CAGCATTAGAGGTAGTAGCCC -3'
(R):5'- AGGCACATTTGGGACTGG -3'

Posted On

2015-05-14