Incidental Mutation 'IGL01461:Flvcr2'
ID 87998
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Flvcr2
Ensembl Gene ENSMUSG00000034258
Gene Name feline leukemia virus subgroup C cellular receptor 2
Synonyms CCT, Mfsd7c
Accession Numbers
Essential gene? Probably essential (E-score: 0.899) question?
Stock # IGL01461
Quality Score
Status
Chromosome 12
Chromosomal Location 85793313-85860359 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 85849905 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 benign
Transcript: ENSMUST00000040461
SMART Domains Protein: ENSMUSP00000035569
Gene: ENSMUSG00000034258

DomainStartEndE-ValueType
Pfam:MFS_1 113 477 1.7e-30 PFAM
transmembrane domain 488 510 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221585
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,429,214 (GRCm39) F767S probably benign Het
Abca13 A G 11: 9,353,834 (GRCm39) T3719A probably damaging Het
Apob A T 12: 8,051,884 (GRCm39) M1137L probably benign Het
Brd9 C T 13: 74,099,717 (GRCm39) Q445* probably null Het
Cdh23 T C 10: 60,244,926 (GRCm39) T990A possibly damaging Het
Cenpf A G 1: 189,389,293 (GRCm39) L1513S probably damaging Het
Col27a1 A G 4: 63,142,480 (GRCm39) K56R probably damaging Het
Cryaa A G 17: 31,900,000 (GRCm39) Y118C probably damaging Het
Dtl T C 1: 191,278,729 (GRCm39) T378A possibly damaging Het
E330020D12Rik A G 1: 153,284,105 (GRCm39) noncoding transcript Het
F7 A G 8: 13,082,245 (GRCm39) D145G possibly damaging Het
Hltf A T 3: 20,154,103 (GRCm39) K680* probably null Het
Ing1 T G 8: 11,611,453 (GRCm39) F22V probably benign Het
Ipo5 A G 14: 121,165,945 (GRCm39) D330G probably damaging Het
Itgax G T 7: 127,734,190 (GRCm39) D321Y probably damaging Het
Kel A C 6: 41,678,845 (GRCm39) probably null Het
Marchf10 T C 11: 105,280,431 (GRCm39) K618R probably damaging Het
Mast4 T A 13: 102,890,576 (GRCm39) M925L probably damaging Het
Miga1 C T 3: 152,040,934 (GRCm39) E78K probably damaging Het
Or4c106 G T 2: 88,682,669 (GRCm39) C125F probably damaging Het
Or7e165 T A 9: 19,695,245 (GRCm39) probably null Het
Pkdrej T C 15: 85,704,575 (GRCm39) I454V possibly damaging Het
Poglut2 T C 1: 44,150,094 (GRCm39) Q365R probably damaging Het
Prpf6 C A 2: 181,273,304 (GRCm39) T283N probably benign Het
R3hdm1 A G 1: 128,106,643 (GRCm39) H197R probably damaging Het
Resf1 T C 6: 149,233,013 (GRCm39) probably benign Het
Smpd4 A C 16: 17,439,370 (GRCm39) Q7P probably damaging Het
Vmn2r84 A T 10: 130,227,094 (GRCm39) I248K possibly damaging Het
Other mutations in Flvcr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00555:Flvcr2 APN 12 85,794,097 (GRCm39) missense possibly damaging 0.91
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
R8203: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
Posted On 2013-11-18