Mutagenetix > Incidental Mutation

Incidental Mutation 'R8203:Flvcr2'

635780

Institutional Source

Beutler Lab

Gene Symbol

Flvcr2

Ensembl Gene

ENSMUSG00000034258

Gene Name

feline leukemia virus subgroup C cellular receptor 2

Synonyms

CCT, Mfsd7c

MMRRC Submission

067626-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.899) question?

Stock #

R8203 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

85793313-85860359 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

GTAGTGTATA to GTA at 85849922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000035569 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000040461

SMART Domains

Protein: ENSMUSP00000035569
Gene: ENSMUSG00000034258

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

98% (53/54)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	G	15: 91,075,369 (GRCm39)	I148T	probably benign	Het
Agbl3	A	G	6: 34,776,414 (GRCm39)	T307A	probably damaging	Het
Ahsa1	A	G	12: 87,315,042 (GRCm39)	D65G	probably damaging	Het
Aicda	T	C	6: 122,538,076 (GRCm39)	V78A	possibly damaging	Het
Arhgef5	A	G	6: 43,257,579 (GRCm39)	D1282G	probably damaging	Het
Atf7ip	T	C	6: 136,583,781 (GRCm39)	S1271P	probably damaging	Het
Atrn	G	A	2: 130,802,469 (GRCm39)	D537N	probably benign	Het
Brd10	A	T	19: 29,693,443 (GRCm39)	S2017T	probably benign	Het
Cep170	T	A	1: 176,596,877 (GRCm39)	Q493H	probably benign	Het
Cltc	A	T	11: 86,594,986 (GRCm39)	Y1371N	possibly damaging	Het
Col12a1	T	C	9: 79,588,831 (GRCm39)	T1095A	possibly damaging	Het
Cxcr5	T	C	9: 44,425,451 (GRCm39)	M69V	probably benign	Het
Cyp2c69	A	T	19: 39,869,584 (GRCm39)	V145E	probably damaging	Het
Ddx3y	T	C	Y: 1,269,827 (GRCm39)	E185G	probably benign	Het
Dgke	G	A	11: 88,941,193 (GRCm39)	A330V	probably benign	Het
Dyrk4	A	G	6: 126,871,797 (GRCm39)	L157P	probably damaging	Het
Ermard	T	A	17: 15,240,548 (GRCm39)	S337R	possibly damaging	Het
Etl4	A	T	2: 20,789,916 (GRCm39)	M805L	possibly damaging	Het
Fmn1	T	A	2: 113,355,620 (GRCm39)	M785K	unknown	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Gabrg3	G	A	7: 56,423,008 (GRCm39)	T230I	possibly damaging	Het
Gle1	A	G	2: 29,825,522 (GRCm39)	D4G	probably benign	Het
Gm5468	T	C	15: 25,414,527 (GRCm39)	S26P	noncoding transcript	Het
Igsf10	A	T	3: 59,236,254 (GRCm39)	L1309Q	probably benign	Het
Lipf	A	G	19: 33,944,283 (GRCm39)	K164R	probably benign	Het
Luc7l	C	A	17: 26,485,333 (GRCm39)	T111K	possibly damaging	Het
Masp2	A	G	4: 148,696,599 (GRCm39)	T399A	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Naip1	T	C	13: 100,562,328 (GRCm39)	I946V	probably benign	Het
Neb	T	A	2: 52,039,259 (GRCm39)	K6927*	probably null	Het
Nipal4	A	T	11: 46,041,147 (GRCm39)	D349E	probably damaging	Het
Or12j2	A	T	7: 139,915,939 (GRCm39)	T55S	probably benign	Het
Or5al7	T	A	2: 85,992,844 (GRCm39)	I150F	probably benign	Het
Or7g22	A	G	9: 19,049,170 (GRCm39)	N294D	probably damaging	Het
Pdik1l	A	T	4: 134,006,676 (GRCm39)	H154Q	unknown	Het
Polr2m	T	G	9: 71,386,768 (GRCm39)	M338L	probably benign	Het
Rab3gap2	T	C	1: 184,999,376 (GRCm39)	L995P	probably damaging	Het
Rnf17	T	A	14: 56,705,179 (GRCm39)	H694Q	probably benign	Het
Sar1b	A	G	11: 51,670,524 (GRCm39)	K23E	probably benign	Het
Setd7	A	T	3: 51,437,519 (GRCm39)	Y245*	probably null	Het
Shpk	A	C	11: 73,104,904 (GRCm39)	D171A	probably benign	Het
Slc2a7	G	T	4: 150,243,015 (GRCm39)	E279*	probably null	Het
Slco4a1	T	C	2: 180,106,592 (GRCm39)	V258A	probably damaging	Het
Srcin1	G	T	11: 97,457,539 (GRCm39)	P62Q	probably damaging	Het
Tbc1d2	A	G	4: 46,606,476 (GRCm39)	F823S	probably damaging	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tdrd9	T	A	12: 111,992,064 (GRCm39)	V613E	probably damaging	Het
Tsc1	A	G	2: 28,563,007 (GRCm39)		probably null	Het
Ulk4	A	T	9: 120,997,274 (GRCm39)	M766K	probably damaging	Het
Wdr36	G	T	18: 32,985,136 (GRCm39)	G481*	probably null	Het
Yme1l1	G	A	2: 23,054,538 (GRCm39)	R119H	probably benign	Het
Zfp106	G	A	2: 120,349,559 (GRCm39)	T1644I	probably damaging	Het

Other mutations in Flvcr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00555:Flvcr2	APN	12	85,794,097 (GRCm39)	missense	possibly damaging	0.91
IGL01461:Flvcr2	APN	12	85,849,905 (GRCm39)	splice site	probably benign
IGL02191:Flvcr2	APN	12	85,832,966 (GRCm39)	nonsense	probably null
IGL02643:Flvcr2	APN	12	85,842,997 (GRCm39)	missense	possibly damaging	0.96
IGL02933:Flvcr2	APN	12	85,849,902 (GRCm39)	splice site	probably benign
pulga	UTSW	12	85,793,965 (GRCm39)	missense	possibly damaging	0.94
R1792:Flvcr2	UTSW	12	85,793,929 (GRCm39)	nonsense	probably null
R1840:Flvcr2	UTSW	12	85,849,995 (GRCm39)	missense	possibly damaging	0.91
R2402:Flvcr2	UTSW	12	85,829,777 (GRCm39)	missense	probably benign	0.12
R4120:Flvcr2	UTSW	12	85,832,903 (GRCm39)	missense	probably benign	0.31
R4900:Flvcr2	UTSW	12	85,829,756 (GRCm39)	missense	probably damaging	0.98
R5417:Flvcr2	UTSW	12	85,793,965 (GRCm39)	missense	probably damaging	0.97
R5559:Flvcr2	UTSW	12	85,851,181 (GRCm39)	missense	probably benign	0.21
R5639:Flvcr2	UTSW	12	85,794,250 (GRCm39)	missense	probably benign	0.03
R5891:Flvcr2	UTSW	12	85,843,002 (GRCm39)	missense	possibly damaging	0.74
R6347:Flvcr2	UTSW	12	85,794,194 (GRCm39)	missense	possibly damaging	0.66
R6349:Flvcr2	UTSW	12	85,793,974 (GRCm39)	missense	probably benign	0.30
R7082:Flvcr2	UTSW	12	85,793,728 (GRCm39)	missense	probably benign	0.03
R7179:Flvcr2	UTSW	12	85,793,965 (GRCm39)	missense	possibly damaging	0.94
R7241:Flvcr2	UTSW	12	85,852,013 (GRCm39)	missense	probably benign
R7459:Flvcr2	UTSW	12	85,793,831 (GRCm39)	missense	probably benign	0.14
R8030:Flvcr2	UTSW	12	85,845,312 (GRCm39)	missense	probably damaging	0.97
R8200:Flvcr2	UTSW	12	85,849,922 (GRCm39)	frame shift	probably null
R8204:Flvcr2	UTSW	12	85,849,922 (GRCm39)	frame shift	probably null
R8206:Flvcr2	UTSW	12	85,849,922 (GRCm39)	frame shift	probably null
R8207:Flvcr2	UTSW	12	85,849,922 (GRCm39)	frame shift	probably null
R8208:Flvcr2	UTSW	12	85,849,922 (GRCm39)	frame shift	probably null
R8217:Flvcr2	UTSW	12	85,849,922 (GRCm39)	frame shift	probably null
R8218:Flvcr2	UTSW	12	85,849,922 (GRCm39)	frame shift	probably null
R8384:Flvcr2	UTSW	12	85,842,967 (GRCm39)	missense	possibly damaging	0.95
R9015:Flvcr2	UTSW	12	85,829,779 (GRCm39)	missense	probably benign	0.21
R9372:Flvcr2	UTSW	12	85,793,795 (GRCm39)	missense	probably benign	0.10
R9379:Flvcr2	UTSW	12	85,850,000 (GRCm39)	missense	probably benign	0.00
R9516:Flvcr2	UTSW	12	85,793,954 (GRCm39)	missense	possibly damaging	0.70
RF013:Flvcr2	UTSW	12	85,793,960 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TAGTGTTCCTCACCTATATGGAGACAC -3'
(R):5'- TTTCACATCTCCTGAGGCCAG -3'

Sequencing Primer
(F):5'- CTTCTATGAAGACAGATGTGCCAGC -3'
(R):5'- GGGACTTGCATTGCCTCCTAG -3'

Posted On

2020-07-13