Mutagenetix > Incidental Mutations

Incidental Mutation 'R6349:Flvcr2'

512459

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: 0.847) question?

Stock #

R6349 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85746539-85813585 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85747200 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 117 (Y117H)

Ref Sequence

ENSEMBL: ENSMUSP00000035569 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000040461
AA Change: Y117H

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000035569
Gene: ENSMUSG00000034258
AA Change: Y117H

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: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.6%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012A03Rik	A	G	6: 32,051,660	Y9C	probably benign	Het
4930433I11Rik	A	C	7: 40,994,772	M622L	possibly damaging	Het
Abca8b	C	T	11: 109,934,718		probably null	Het
Adam28	T	C	14: 68,633,172	I351V	probably benign	Het
Adgrd1	A	C	5: 129,142,539		probably null	Het
Ank3	T	A	10: 69,979,439	I473N	probably damaging	Het
Ankrd6	A	T	4: 32,822,231	H179Q	probably damaging	Het
Ano6	A	G	15: 95,966,022	R808G	probably damaging	Het
Anxa8	A	T	14: 34,097,893	I280F	probably damaging	Het
Asb2	C	T	12: 103,345,859	M1I	probably null	Het
Astn1	C	T	1: 158,664,121	Q1023*	probably null	Het
Cast	T	A	13: 74,721,195	E542D	probably damaging	Het
Ccdc162	C	T	10: 41,694,400	E30K	probably damaging	Het
Ccdc87	T	C	19: 4,841,319	V613A	probably damaging	Het
Cdk13	T	C	13: 17,751,719	N832S	probably damaging	Het
Celsr1	T	A	15: 86,031,684	N696I	probably damaging	Het
Chd3	T	C	11: 69,364,031	E161G	possibly damaging	Het
Cxcr4	C	A	1: 128,589,277	V216F	possibly damaging	Het
Cyp4a10	A	G	4: 115,525,358	I282V	probably benign	Het
Deaf1	T	C	7: 141,322,950	T154A	possibly damaging	Het
Dido1	A	T	2: 180,660,701	D1803E	probably benign	Het
Dmxl2	T	C	9: 54,419,909	D944G	possibly damaging	Het
Dnah5	G	A	15: 28,238,511	V400M	probably damaging	Het
Fbxo15	A	G	18: 84,964,142	I240V	probably benign	Het
Fcrls	A	G	3: 87,252,496	C484R	probably damaging	Het
Fech	G	T	18: 64,470,785	Y164*	probably null	Het
Fer1l5	T	A	1: 36,411,274	W1175R	probably damaging	Het
Fgfrl1	T	C	5: 108,705,506	Y241H	probably damaging	Het
Fsip2	T	A	2: 82,993,072	M6383K	probably benign	Het
Gcc2	T	A	10: 58,269,474	D141E	probably benign	Het
Glt1d1	A	C	5: 127,706,886	R301S	probably benign	Het
Hars	G	C	18: 36,783,054	A16G	probably benign	Het
Hmcn2	G	T	2: 31,388,373	G1696C	probably damaging	Het
Hydin	T	A	8: 110,418,459	L814*	probably null	Het
Izumo4	T	A	10: 80,702,717	M1K	probably null	Het
Kdm5d	T	A	Y: 916,847	M414K	probably damaging	Homo
Kif21b	G	A	1: 136,158,326	V812I	probably damaging	Het
Map3k7	A	G	4: 31,988,661	D270G	possibly damaging	Het
Mical3	A	G	6: 120,959,525	S1347P	probably benign	Het
Mras	T	A	9: 99,394,616	D67V	probably damaging	Het
Mtnr1b	A	T	9: 15,863,213	Y183*	probably null	Het
Muc16	A	T	9: 18,657,329	L1298Q	unknown	Het
Myh2	A	T	11: 67,193,003	I1536F	probably benign	Het
Olfr371	T	C	8: 85,231,158	I221T	possibly damaging	Het
Osmr	G	T	15: 6,821,063	D686E	probably benign	Het
Pah	T	A	10: 87,578,969	D394E	probably benign	Het
Pla1a	T	A	16: 38,417,124	S71C	probably benign	Het
Proc	T	A	18: 32,133,433	I114L	probably benign	Het
Psd	T	G	19: 46,313,387		probably null	Het
Psmb6	C	T	11: 70,527,538	Q226*	probably null	Het
Rnpepl1	A	T	1: 92,919,841	N717Y	probably damaging	Het
Rundc1	T	C	11: 101,434,162	S565P	probably benign	Het
Serpinb5	T	A	1: 106,881,765	S300R	probably benign	Het
Serpinf2	T	C	11: 75,432,431	D483G	probably damaging	Het
Sgsm3	T	C	15: 81,008,346	I291T	probably benign	Het
Smg6	T	A	11: 75,053,774	D116E	possibly damaging	Het
Srfbp1	G	T	18: 52,488,962	S365I	probably benign	Het
Stkld1	A	G	2: 26,945,860	T236A	probably benign	Het
Susd5	T	C	9: 114,095,802	V251A	probably benign	Het
Tcf25	A	G	8: 123,391,593	Y314C	probably damaging	Het
Tmem210	A	G	2: 25,289,036	D112G	possibly damaging	Het
Tubb2b	A	G	13: 34,127,545	Y422H	probably damaging	Het
Tyw1	T	C	5: 130,277,031	S332P	possibly damaging	Het
Vmn1r29	A	C	6: 58,307,427	Q44P	probably damaging	Het
Vrtn	T	C	12: 84,649,018	S181P	probably damaging	Het
Wdr76	T	A	2: 121,534,231	Y437N	possibly damaging	Het
Zc3h18	C	A	8: 122,408,286		probably benign	Het
Zfp287	G	T	11: 62,725,342	D174E	probably damaging	Het
Zfp800	A	T	6: 28,244,602	Y121*	probably null	Het
Zfyve19	T	A	2: 119,210,597	L57Q	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
R6347:Flvcr2	UTSW	12	85747420	missense	possibly damaging	0.66
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

Predicted Primers

PCR Primer
(F):5'- AATTCCAGATGGACACCAGC -3'
(R):5'- TCGAAGACCAAATTTCTCCAGC -3'

Sequencing Primer
(F):5'- ATCCATCCCAGCGTCTCAGG -3'
(R):5'- AATTTCTCCAGCATCCAGGC -3'

Posted On

2018-04-27