Incidental Mutation 'R8206:Flvcr2'
ID 635930
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 067629-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.899) question?
Stock # R8206 (G1)
Quality Score 217.468
Status Validated
Chromosome 12
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

DomainStartEndE-ValueType
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: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (50/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano4 A G 10: 88,860,958 (GRCm39) Y342H probably damaging Het
Aqp4 T A 18: 15,526,716 (GRCm39) D255V possibly damaging Het
Arhgap26 C A 18: 39,439,803 (GRCm39) S247* probably null Het
Arid4a A G 12: 71,133,361 (GRCm39) D1154G probably damaging Het
Atpaf2 A G 11: 60,295,304 (GRCm39) I182T probably damaging Het
Cacna1i C A 15: 80,274,016 (GRCm39) probably null Het
Ccdc38 A G 10: 93,399,146 (GRCm39) S205G probably damaging Het
Cep63 A G 9: 102,498,470 (GRCm39) probably benign Het
Cripto G A 9: 110,773,352 (GRCm39) probably benign Het
Cyp24a1 T C 2: 170,333,589 (GRCm39) T255A possibly damaging Het
Dlg5 A G 14: 24,210,336 (GRCm39) S787P possibly damaging Het
Dnah6 A T 6: 73,014,549 (GRCm39) C3679* probably null Het
Dpy19l3 T C 7: 35,429,155 (GRCm39) Y95C probably damaging Het
Erc2 G A 14: 28,024,972 (GRCm39) probably null Het
Ezh2 A T 6: 47,509,834 (GRCm39) probably null Het
Fgfr1 A G 8: 26,060,258 (GRCm39) T463A probably damaging Het
Fsip2 T C 2: 82,820,808 (GRCm39) S5514P possibly damaging Het
Glrb A G 3: 80,758,373 (GRCm39) Y347H probably damaging Het
Gm14325 C A 2: 177,474,767 (GRCm39) C105F probably damaging Het
Hgsnat T C 8: 26,444,665 (GRCm39) T428A probably damaging Het
Ighv1-76 T C 12: 115,811,934 (GRCm39) M1V probably null Het
Inppl1 A G 7: 101,472,783 (GRCm39) I1207T possibly damaging Het
Kmt2c T A 5: 25,519,537 (GRCm39) Q2191L probably damaging Het
Krt79 T A 15: 101,848,705 (GRCm39) probably null Het
Mast4 G A 13: 102,872,247 (GRCm39) L2374F probably damaging Het
Mgam A G 6: 40,657,169 (GRCm39) N951S probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Naip6 A T 13: 100,431,344 (GRCm39) C1164* probably null Het
Nfatc2ip G T 7: 125,989,906 (GRCm39) D189E probably damaging Het
Nrp1 A G 8: 129,184,438 (GRCm39) D361G probably damaging Het
Nrp2 T C 1: 62,786,374 (GRCm39) I293T probably damaging Het
Pate5 A T 9: 35,750,719 (GRCm39) F34L possibly damaging Het
Pde3a T C 6: 141,433,611 (GRCm39) V831A probably damaging Het
Pirb A G 7: 3,715,905 (GRCm39) probably null Het
Plch1 G T 3: 63,610,047 (GRCm39) probably null Het
Plekhh2 A G 17: 84,898,277 (GRCm39) T973A possibly damaging Het
Ppp1r35 T A 5: 137,778,296 (GRCm39) I97K unknown Het
Ppp1r3c C T 19: 36,710,846 (GRCm39) G308E probably benign Het
Prss12 G A 3: 123,258,611 (GRCm39) probably null Het
Rad51b A G 12: 79,361,715 (GRCm39) D142G probably damaging Het
Slc13a3 C T 2: 165,248,745 (GRCm39) G553D probably damaging Het
Spata31d1d A C 13: 59,879,344 (GRCm39) V64G probably benign Het
Srp68 G A 11: 116,164,809 (GRCm39) R42C probably damaging Het
Syne2 T C 12: 76,062,365 (GRCm39) V4229A probably benign Het
Tas2r144 G A 6: 42,192,325 (GRCm39) V22M probably damaging Het
Tcf7l1 A G 6: 72,604,395 (GRCm39) L583P probably damaging Het
Tdrd3 A G 14: 87,749,214 (GRCm39) D708G probably benign Het
Tns4 A T 11: 98,976,627 (GRCm39) L98Q probably damaging Het
Zfp677 T A 17: 21,612,717 (GRCm39) probably null Het
Other mutations in Flvcr2
AlleleSourceChrCoordTypePredicted EffectPPH 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
R8203:Flvcr2 UTSW 12 85,849,922 (GRCm39) frame shift probably null
R8204: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'- CTCTTTGAAACATTGGTCATGGTG -3'
(R):5'- TTTCACATCTCCTGAGGCCAG -3'

Sequencing Primer
(F):5'- AGTGTTCCTCACCTATATGGAGACAC -3'
(R):5'- GGGACTTGCATTGCCTCCTAG -3'
Posted On 2020-07-13