Mutagenetix > Incidental Mutation

Incidental Mutation 'RF013:Flvcr2'

603360

Institutional Source

Beutler Lab

Gene Symbol

Flvcr2

Ensembl Gene

ENSMUSG00000034258

Gene Name

feline leukemia virus subgroup C cellular receptor 2

Synonyms

Mfsd7c, CCT

Accession Numbers

Essential gene?

Probably essential (E-score: 0.887) question?

Stock #

RF013 (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 A at 85747186 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 112 (L112Q)

Ref Sequence

ENSEMBL: ENSMUSP00000035569 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000040461
AA Change: L112Q

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035569
Gene: ENSMUSG00000034258
AA Change: L112Q

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: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,905,096 (GRCm38)		probably benign	Het
Adamts9	A	G	6: 92,943,145 (GRCm38)	V4A	possibly damaging	Het
AI837181	GGC	GGCTGC	19: 5,425,232 (GRCm38)		probably benign	Het
Alk	A	G	17: 71,895,936 (GRCm38)	Y1135H	probably damaging	Het
Ankhd1	CGGCGG	CGGCGGAGGCGG	18: 36,560,926 (GRCm38)		probably benign	Het
Ano3	A	C	2: 110,697,036 (GRCm38)	L609R	probably benign	Het
Bicc1	A	G	10: 70,935,830 (GRCm38)		probably null	Het
Bltp1	TTAT	TTATTATTATTATTAGTAT	3: 37,050,757 (GRCm38)		probably benign	Het
Card6	T	C	15: 5,100,142 (GRCm38)	I591V	probably benign	Het
Ccdc121rt2	T	A	5: 112,450,071 (GRCm38)	N161K	probably benign	Het
Ccdc18	A	G	5: 108,220,716 (GRCm38)	N1235D	probably benign	Het
Cd109	TTAT	TTATTTATTTATCTAT	9: 78,712,531 (GRCm38)		probably benign	Het
Cnpy3	CCT	CCTGCT	17: 46,736,744 (GRCm38)		probably benign	Het
Col6a5	GCAGTC	GCAGTCTCCAGTC	9: 105,878,597 (GRCm38)		probably null	Het
Cyb5r4	GACACACTGCCCAGGGA	GACACACTGCCCAGGGATGTGACACACACACTGCCCAGGGA	9: 87,040,432 (GRCm38)		probably benign	Het
Cyp8b1	A	T	9: 121,915,495 (GRCm38)	M257K	possibly damaging	Het
Dbf4	A	T	5: 8,397,985 (GRCm38)	H408Q	possibly damaging	Het
Defb22	TTGCGGCA	TTGCGGCAGAGCTGGCCTGTGCGGCA	2: 152,485,831 (GRCm38)		probably benign	Het
Ercc6l2	A	T	13: 63,853,017 (GRCm38)	T417S	probably benign	Het
Exd2	AGCCACAG	A	12: 80,475,932 (GRCm38)		probably null	Het
Fam171b	GC	GCAGCATC	2: 83,812,895 (GRCm38)		probably benign	Het
Flywch1	GTG	GTGGGGGGAGGCTACGTACTCACCCACTCCTTTTG	17: 23,762,175 (GRCm38)		probably null	Het
Gabre	TCAGGCTCAGGCT	TCAGGCTCAGGCTCAGGCT	X: 72,270,416 (GRCm38)		probably benign	Het
Garin5a	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGACGGCTGGATCCTGGATCACTGGGTCTGAGGGAGGA	7: 44,500,520 (GRCm38)		probably null	Het
Gm4884	C	A	7: 41,040,809 (GRCm38)	P43Q	probably damaging	Het
Grm8	A	G	6: 27,363,780 (GRCm38)	W579R	probably damaging	Het
Hsdl2	AG	AGCAGCAGCCACAGCTGCCG	4: 59,610,657 (GRCm38)		probably benign	Het
Ivl	CTGCTGCTGCTGCTGT	C	3: 92,572,343 (GRCm38)		probably benign	Het
Kif18b	T	C	11: 102,912,366 (GRCm38)	D506G	probably benign	Het
Krtap28-10	AGCCAC	AGCCACGGCCAC	1: 83,042,135 (GRCm38)		probably benign	Het
Krtap28-10	GCCACAGCCACCACA	GCCACAGCCACCACATCCACAGCCACCACA	1: 83,042,274 (GRCm38)		probably benign	Het
Lama1	C	A	17: 67,781,062 (GRCm38)	S1558R		Het
Lcmt1	C	CCGCGGGGCTT	7: 123,369,836 (GRCm38)		probably null	Het
Lmna	A	G	3: 88,484,054 (GRCm38)	V494A	probably benign	Het
Mapk6	CCAC	CCACCTCAC	9: 75,388,260 (GRCm38)		probably null	Het
Mboat7	T	A	7: 3,691,857 (GRCm38)	H52L	probably damaging	Het
Med12l	CAG	CAGAAG	3: 59,275,966 (GRCm38)		probably benign	Het
Morc2a	T	A	11: 3,676,191 (GRCm38)	M225K	probably benign	Het
Mpdz	G	A	4: 81,293,592 (GRCm38)	A1566V	possibly damaging	Het
Mpi	T	C	9: 57,548,641 (GRCm38)	D186G	probably benign	Het
Mtmr12	C	A	15: 12,261,898 (GRCm38)	N386K	probably damaging	Het
Myh3	ATTAC	ATTACTTAC	11: 67,086,356 (GRCm38)		probably null	Het
Myo10	T	A	15: 25,799,479 (GRCm38)	M1376K	probably damaging	Het
Nbas	C	T	12: 13,279,408 (GRCm38)	T118I	possibly damaging	Het
Nedd4l	C	T	18: 65,209,680 (GRCm38)	R755C	probably damaging	Het
Nefh	GACTTGGCCTCACCTGGG	GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG	11: 4,941,032 (GRCm38)		probably benign	Het
Numa1	T	C	7: 101,999,780 (GRCm38)	L906P	probably damaging	Het
Or6s1	G	A	14: 51,071,012 (GRCm38)	A127V	probably damaging	Het
Or7h8	T	C	9: 20,212,894 (GRCm38)	S182P	probably benign	Het
Otop2	G	T	11: 115,323,666 (GRCm38)	R83L	probably benign	Het
Pmm1	T	A	15: 81,957,813 (GRCm38)	Q62L	probably damaging	Het
Pramel16	C	G	4: 143,948,908 (GRCm38)	Q449H	probably damaging	Het
Ptprj	A	T	2: 90,471,170 (GRCm38)	L206*	probably null	Het
Rassf6	TC	TCTGCCTCACTCATGGTCCTGTAGAGCATTGGGGATCC	5: 90,608,941 (GRCm38)		probably benign	Het
Rps19	A	AGAAAAT	7: 24,889,180 (GRCm38)		probably benign	Het
Rsrp1	T	A	4: 134,923,955 (GRCm38)	V10E	unknown	Het
Sh2d6	C	T	6: 72,516,388 (GRCm38)		probably null	Het
Six4	TG	T	12: 73,103,582 (GRCm38)		probably null	Het
Slc6a15	T	A	10: 103,400,216 (GRCm38)	V264D	probably damaging	Het
Snapc5	ATGGAAGAAGAGG	A	9: 64,182,211 (GRCm38)		probably benign	Het
Sost	A	T	11: 101,964,132 (GRCm38)	I117N	probably damaging	Het
Spmip5	A	G	19: 58,789,294 (GRCm38)	F28S	probably damaging	Het
Tbc1d22a	AGGTGTGTG	A	15: 86,299,774 (GRCm38)		probably null	Het
Tcaf1	C	T	6: 42,679,173 (GRCm38)	V290I	probably benign	Het
Tcof1	GCA	GCACCA	18: 60,835,743 (GRCm38)		probably benign	Het
Tex55	T	C	16: 38,828,001 (GRCm38)	T249A	probably benign	Het
Tgfbr1	A	G	4: 47,353,354 (GRCm38)	I15V	unknown	Het
Tmem241	A	T	18: 11,983,561 (GRCm38)	L288Q	probably damaging	Het
Tnfrsf13b	T	G	11: 61,141,444 (GRCm38)	V100G	probably benign	Het
Trim66	A	G	7: 109,460,753 (GRCm38)	S809P	probably damaging	Het
Tubb4a	C	G	17: 57,087,464 (GRCm38)	G17A	possibly damaging	Het
Txndc16	A	G	14: 45,169,338 (GRCm38)	V220A	probably benign	Het
Zan	T	A	5: 137,391,720 (GRCm38)	Q4830L	unknown	Het

Other mutations in Flvcr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00555:Flvcr2	APN	12	85,747,323 (GRCm38)	missense	possibly damaging	0.91
IGL01461:Flvcr2	APN	12	85,803,131 (GRCm38)	splice site	probably benign
IGL02191:Flvcr2	APN	12	85,786,192 (GRCm38)	nonsense	probably null
IGL02643:Flvcr2	APN	12	85,796,223 (GRCm38)	missense	possibly damaging	0.96
IGL02933:Flvcr2	APN	12	85,803,128 (GRCm38)	splice site	probably benign
pulga	UTSW	12	85,747,191 (GRCm38)	missense	possibly damaging	0.94
R1792:Flvcr2	UTSW	12	85,747,155 (GRCm38)	nonsense	probably null
R1840:Flvcr2	UTSW	12	85,803,221 (GRCm38)	missense	possibly damaging	0.91
R2402:Flvcr2	UTSW	12	85,783,003 (GRCm38)	missense	probably benign	0.12
R4120:Flvcr2	UTSW	12	85,786,129 (GRCm38)	missense	probably benign	0.31
R4900:Flvcr2	UTSW	12	85,782,982 (GRCm38)	missense	probably damaging	0.98
R5417:Flvcr2	UTSW	12	85,747,191 (GRCm38)	missense	probably damaging	0.97
R5559:Flvcr2	UTSW	12	85,804,407 (GRCm38)	missense	probably benign	0.21
R5639:Flvcr2	UTSW	12	85,747,476 (GRCm38)	missense	probably benign	0.03
R5891:Flvcr2	UTSW	12	85,796,228 (GRCm38)	missense	possibly damaging	0.74
R6347:Flvcr2	UTSW	12	85,747,420 (GRCm38)	missense	possibly damaging	0.66
R6349:Flvcr2	UTSW	12	85,747,200 (GRCm38)	missense	probably benign	0.30
R7082:Flvcr2	UTSW	12	85,746,954 (GRCm38)	missense	probably benign	0.03
R7179:Flvcr2	UTSW	12	85,747,191 (GRCm38)	missense	possibly damaging	0.94
R7241:Flvcr2	UTSW	12	85,805,239 (GRCm38)	missense	probably benign
R7459:Flvcr2	UTSW	12	85,747,057 (GRCm38)	missense	probably benign	0.14
R8030:Flvcr2	UTSW	12	85,798,538 (GRCm38)	missense	probably damaging	0.97
R8200:Flvcr2	UTSW	12	85,803,148 (GRCm38)	frame shift	probably null
R8203:Flvcr2	UTSW	12	85,803,148 (GRCm38)	frame shift	probably null
R8204:Flvcr2	UTSW	12	85,803,148 (GRCm38)	frame shift	probably null
R8206:Flvcr2	UTSW	12	85,803,148 (GRCm38)	frame shift	probably null
R8207:Flvcr2	UTSW	12	85,803,148 (GRCm38)	frame shift	probably null
R8208:Flvcr2	UTSW	12	85,803,148 (GRCm38)	frame shift	probably null
R8217:Flvcr2	UTSW	12	85,803,148 (GRCm38)	frame shift	probably null
R8218:Flvcr2	UTSW	12	85,803,148 (GRCm38)	frame shift	probably null
R8384:Flvcr2	UTSW	12	85,796,193 (GRCm38)	missense	possibly damaging	0.95
R9015:Flvcr2	UTSW	12	85,783,005 (GRCm38)	missense	probably benign	0.21
R9372:Flvcr2	UTSW	12	85,747,021 (GRCm38)	missense	probably benign	0.10
R9379:Flvcr2	UTSW	12	85,803,226 (GRCm38)	missense	probably benign	0.00
R9516:Flvcr2	UTSW	12	85,747,180 (GRCm38)	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- CGGAATTCCAGATGGACACCAG -3'
(R):5'- ATTTCTCCAGCATCCAGGCC -3'

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

Posted On

2019-12-04