Mutagenetix > Incidental Mutations

Incidental Mutation 'R5891:Flvcr2'

457206

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

044092-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.914) question?

Stock #

R5891 (G1)

Quality Score

198

Status

Validated

Chromosome

Chromosomal Location

85746539-85813585 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85796228 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 359 (I359F)

Ref Sequence

ENSEMBL: ENSMUSP00000035569 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040461
AA Change: I359F

PolyPhen 2 Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000035569
Gene: ENSMUSG00000034258
AA Change: I359F

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

0.5381

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

96% (85/89)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	G	15: 8,188,589	I828V	probably benign	Het
A430105I19Rik	T	A	2: 118,761,383	D92V	probably damaging	Het
Abi3bp	A	T	16: 56,606,133	T504S	probably damaging	Het
Adamtsl4	C	A	3: 95,682,313	R387L	possibly damaging	Het
Adgb	G	A	10: 10,377,847	Q1224*	probably null	Het
Ankrd40	T	A	11: 94,334,863	F240Y	probably damaging	Het
Asnsd1	A	T	1: 53,347,977	Y164N	probably benign	Het
Atf7ip	A	T	6: 136,559,977	E69D	possibly damaging	Het
Atm	T	C	9: 53,497,159	T1129A	probably benign	Het
AU021092	T	C	16: 5,212,131	D340G	probably benign	Het
Baz2a	T	A	10: 128,121,322	I978N	probably damaging	Het
BC034090	T	C	1: 155,233,047		probably benign	Het
Bcl9	A	G	3: 97,208,888	L830P	probably damaging	Het
Bicral	T	C	17: 46,801,229	N1015S	probably benign	Het
Ceacam3	C	A	7: 17,151,793	T107N	probably damaging	Het
Cep83	T	C	10: 94,725,675	V109A	probably benign	Het
Ces1e	A	G	8: 93,203,266	V463A	possibly damaging	Het
Ciao1	A	G	2: 127,247,134	V55A	probably benign	Het
Col19a1	T	C	1: 24,289,725	E900G	probably damaging	Het
Commd3	A	G	2: 18,673,815		probably benign	Het
Coro1c	A	G	5: 113,850,811	I157T	probably damaging	Het
Ctso	T	A	3: 81,954,254	F311L	probably benign	Het
Cxcl10	A	G	5: 92,348,224		probably benign	Het
Daam1	C	A	12: 71,944,149	T179N	unknown	Het
Ddx24	T	C	12: 103,424,058	K225E	probably damaging	Het
Dnajc16	T	C	4: 141,775,392	T278A	probably benign	Het
Dnajc2	A	T	5: 21,761,711	N345K	possibly damaging	Het
Dnpep	G	T	1: 75,311,812	Q395K	probably benign	Het
Dync1h1	T	C	12: 110,614,220		probably null	Het
Exoc1	A	G	5: 76,542,144	D177G	probably damaging	Het
Fam135b	C	T	15: 71,525,803	R136H	probably damaging	Het
Fam214a	C	G	9: 75,004,386	C46W	probably damaging	Het
Filip1	T	G	9: 79,819,860	L492F	possibly damaging	Het
Gmcl1	A	G	6: 86,707,443	W366R	probably damaging	Het
Htt	A	G	5: 34,870,823	T1808A	possibly damaging	Het
Ighv5-4	C	A	12: 113,597,629	R57L	probably damaging	Het
Il12rb2	A	T	6: 67,360,690	I69N	probably damaging	Het
Irf5	A	T	6: 29,529,425		probably benign	Het
Kif13b	T	G	14: 64,788,405		probably null	Het
Klkb1	T	A	8: 45,270,666	T571S	probably benign	Het
Mapkbp1	G	T	2: 120,023,932	E1337*	probably null	Het
Met	A	G	6: 17,491,539	D100G	probably benign	Het
Mgam	T	A	6: 40,744,348	D183E	probably benign	Het
Mrgprb13	T	C	7: 48,312,259		noncoding transcript	Het
Mrgprx2	T	C	7: 48,482,246	T275A	probably benign	Het
Mroh2a	C	A	1: 88,241,615	Q671K	possibly damaging	Het
Nckipsd	T	A	9: 108,808,609	S42R	probably damaging	Het
Nlrp12	T	A	7: 3,219,259		probably benign	Het
Olfr1297	A	T	2: 111,621,433	L214M	probably damaging	Het
Olfr361	T	A	2: 37,084,978	M257L	probably benign	Het
Olfr467	C	T	7: 107,815,180	P199S	probably damaging	Het
Olfr527	C	T	7: 140,336,600	T246I	probably benign	Het
Otoa	T	A	7: 121,132,360		probably null	Het
Pfkm	T	A	15: 98,122,690	C233*	probably null	Het
Pikfyve	A	G	1: 65,202,737	Y212C	probably damaging	Het
Ptprq	T	A	10: 107,576,895	D1781V	possibly damaging	Het
Pttg1ip	A	G	10: 77,582,440		probably benign	Het
Rab6a	T	A	7: 100,639,247		probably null	Het
Rbm11	C	T	16: 75,598,837	A132V	possibly damaging	Het
Sept4	G	T	11: 87,588,924		probably benign	Het
Serpinb8	A	G	1: 107,605,845	E210G	probably damaging	Het
Sertad2	G	A	11: 20,647,884	G27S	probably benign	Het
Slco5a1	A	G	1: 12,990,402	F32L	probably benign	Het
Smad2	A	G	18: 76,299,975	E326G	probably damaging	Het
Sp9	T	A	2: 73,274,251	L383Q	probably damaging	Het
Stx11	T	C	10: 12,941,815	N55S	probably damaging	Het
Tbc1d15	T	A	10: 115,220,308	Q253L	probably benign	Het
Tcf7l1	T	A	6: 72,637,051		probably benign	Het
Tdrd9	T	A	12: 112,042,719	S1020T	probably damaging	Het
Tead3	A	T	17: 28,341,365	D88E	probably damaging	Het
Tnrc18	A	G	5: 142,815,171	S11P	probably damaging	Homo
Trpc3	G	T	3: 36,671,022	D268E	probably damaging	Het
Ttn	A	G	2: 76,745,741	V23190A	possibly damaging	Het
Ubr4	T	A	4: 139,408,626	Y908*	probably null	Het
Urb2	G	T	8: 124,030,856	V1101L	possibly damaging	Het
Usp9y	A	T	Y: 1,341,535	D1375E	probably benign	Het
Zcchc7	T	C	4: 44,895,838	L262P	probably damaging	Het
Zdhhc7	T	A	8: 120,084,900	H188L	probably benign	Het
Zfp518a	T	A	19: 40,912,433	C269S	probably damaging	Het
Zfp933	T	C	4: 147,826,774	K90E	probably benign	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
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'- AGAAAGTTGCCTCATACATCCCTG -3'
(R):5'- TTAAATTGAGACCCAGGGCCATC -3'

Sequencing Primer
(F):5'- CACACACGGTGGTAGTGG -3'
(R):5'- GACCCAGGGCCATCTACCTC -3'

Posted On

2017-02-15