Incidental Mutation 'IGL00555:Flvcr2'
ID4390
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Flvcr2
Ensembl Gene ENSMUSG00000034258
Gene Namefeline leukemia virus subgroup C cellular receptor 2
SynonymsMfsd7c, CCT
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.836) question?
Stock #IGL00555
Quality Score
Status
Chromosome12
Chromosomal Location85746539-85813585 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 85747323 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 158 (I158F)
Ref Sequence ENSEMBL: ENSMUSP00000035569 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040461]
Predicted Effect possibly damaging
Transcript: ENSMUST00000040461
AA Change: I158F

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000035569
Gene: ENSMUSG00000034258
AA Change: I158F

DomainStartEndE-ValueType
Pfam:MFS_1 113 477 1.7e-30 PFAM
transmembrane domain 488 510 N/A INTRINSIC
Coding Region Coverage
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: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam17 A G 12: 21,328,109 V692A probably damaging Het
Ankrd12 A G 17: 65,984,976 V1154A probably benign Het
Asnsd1 T C 1: 53,346,628 N529S probably damaging Het
C1ra T C 6: 124,522,291 F479L probably benign Het
Cdh9 T C 15: 16,823,406 F158S probably damaging Het
Etaa1 A T 11: 17,947,535 M194K probably damaging Het
Gm4985 A G X: 23,957,952 I328T probably benign Het
Mtss1 A G 15: 58,951,468 probably null Het
Ngf A G 3: 102,520,472 H179R probably damaging Het
Plbd2 A T 5: 120,485,810 M549K possibly damaging Het
Shc3 A G 13: 51,461,343 S193P probably damaging Het
Tat A G 8: 109,998,785 T421A probably benign Het
Tbcel G T 9: 42,443,037 T165K probably benign Het
Trim44 A G 2: 102,304,479 *346R probably null Het
Uba6 A T 5: 86,119,407 F921I possibly damaging Het
Other mutations in Flvcr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On2012-04-20