Incidental Mutation 'R6349:Flvcr2'
ID 512459
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 044503-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.899) question?
Stock # R6349 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 85793313-85860359 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85793974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 117 (Y117H)
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
AA Change: Y117H

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000035569
Gene: ENSMUSG00000034258
AA Change: Y117H

DomainStartEndE-ValueType
Pfam:MFS_1 113 477 1.7e-30 PFAM
transmembrane domain 488 510 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.6%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012A03Rik A G 6: 32,028,595 (GRCm39) Y9C probably benign Het
4930433I11Rik A C 7: 40,644,196 (GRCm39) M622L possibly damaging Het
Abca8b C T 11: 109,825,544 (GRCm39) probably null Het
Adam28 T C 14: 68,870,621 (GRCm39) I351V probably benign Het
Adgrd1 A C 5: 129,219,603 (GRCm39) probably null Het
Ank3 T A 10: 69,815,269 (GRCm39) I473N probably damaging Het
Ankrd6 A T 4: 32,822,231 (GRCm39) H179Q probably damaging Het
Ano6 A G 15: 95,863,903 (GRCm39) R808G probably damaging Het
Anxa8 A T 14: 33,819,850 (GRCm39) I280F probably damaging Het
Asb2 C T 12: 103,312,118 (GRCm39) M1I probably null Het
Astn1 C T 1: 158,491,691 (GRCm39) Q1023* probably null Het
Cast T A 13: 74,869,314 (GRCm39) E542D probably damaging Het
Ccdc162 C T 10: 41,570,396 (GRCm39) E30K probably damaging Het
Ccdc87 T C 19: 4,891,347 (GRCm39) V613A probably damaging Het
Cdk13 T C 13: 17,926,304 (GRCm39) N832S probably damaging Het
Celsr1 T A 15: 85,915,885 (GRCm39) N696I probably damaging Het
Chd3 T C 11: 69,254,857 (GRCm39) E161G possibly damaging Het
Cxcr4 C A 1: 128,517,014 (GRCm39) V216F possibly damaging Het
Cyp4a10 A G 4: 115,382,555 (GRCm39) I282V probably benign Het
Deaf1 T C 7: 140,902,863 (GRCm39) T154A possibly damaging Het
Dido1 A T 2: 180,302,494 (GRCm39) D1803E probably benign Het
Dmxl2 T C 9: 54,327,193 (GRCm39) D944G possibly damaging Het
Dnah5 G A 15: 28,238,657 (GRCm39) V400M probably damaging Het
Fbxo15 A G 18: 84,982,267 (GRCm39) I240V probably benign Het
Fcrl2 A G 3: 87,159,803 (GRCm39) C484R probably damaging Het
Fech G T 18: 64,603,856 (GRCm39) Y164* probably null Het
Fer1l5 T A 1: 36,450,355 (GRCm39) W1175R probably damaging Het
Fgfrl1 T C 5: 108,853,372 (GRCm39) Y241H probably damaging Het
Fsip2 T A 2: 82,823,416 (GRCm39) M6383K probably benign Het
Gcc2 T A 10: 58,105,296 (GRCm39) D141E probably benign Het
Glt1d1 A C 5: 127,783,950 (GRCm39) R301S probably benign Het
Hars1 G C 18: 36,916,107 (GRCm39) A16G probably benign Het
Hmcn2 G T 2: 31,278,385 (GRCm39) G1696C probably damaging Het
Hydin T A 8: 111,145,091 (GRCm39) L814* probably null Het
Izumo4 T A 10: 80,538,551 (GRCm39) M1K probably null Het
Kdm5d T A Y: 916,847 (GRCm39) M414K probably damaging Homo
Kif21b G A 1: 136,086,064 (GRCm39) V812I probably damaging Het
Map3k7 A G 4: 31,988,661 (GRCm39) D270G possibly damaging Het
Mical3 A G 6: 120,936,486 (GRCm39) S1347P probably benign Het
Mras T A 9: 99,276,669 (GRCm39) D67V probably damaging Het
Mtnr1b A T 9: 15,774,509 (GRCm39) Y183* probably null Het
Muc16 A T 9: 18,568,625 (GRCm39) L1298Q unknown Het
Myh2 A T 11: 67,083,829 (GRCm39) I1536F probably benign Het
Or7c19 T C 8: 85,957,787 (GRCm39) I221T possibly damaging Het
Osmr G T 15: 6,850,544 (GRCm39) D686E probably benign Het
Pah T A 10: 87,414,831 (GRCm39) D394E probably benign Het
Pla1a T A 16: 38,237,486 (GRCm39) S71C probably benign Het
Proc T A 18: 32,266,486 (GRCm39) I114L probably benign Het
Psd T G 19: 46,301,826 (GRCm39) probably null Het
Psmb6 C T 11: 70,418,364 (GRCm39) Q226* probably null Het
Rnpepl1 A T 1: 92,847,563 (GRCm39) N717Y probably damaging Het
Rundc1 T C 11: 101,324,988 (GRCm39) S565P probably benign Het
Serpinb5 T A 1: 106,809,495 (GRCm39) S300R probably benign Het
Serpinf2 T C 11: 75,323,257 (GRCm39) D483G probably damaging Het
Sgsm3 T C 15: 80,892,547 (GRCm39) I291T probably benign Het
Smg6 T A 11: 74,944,600 (GRCm39) D116E possibly damaging Het
Srfbp1 G T 18: 52,622,034 (GRCm39) S365I probably benign Het
Stkld1 A G 2: 26,835,872 (GRCm39) T236A probably benign Het
Susd5 T C 9: 113,924,870 (GRCm39) V251A probably benign Het
Tcf25 A G 8: 124,118,332 (GRCm39) Y314C probably damaging Het
Tmem210 A G 2: 25,179,048 (GRCm39) D112G possibly damaging Het
Tubb2b A G 13: 34,311,528 (GRCm39) Y422H probably damaging Het
Tyw1 T C 5: 130,305,872 (GRCm39) S332P possibly damaging Het
Vmn1r29 A C 6: 58,284,412 (GRCm39) Q44P probably damaging Het
Vrtn T C 12: 84,695,792 (GRCm39) S181P probably damaging Het
Wdr76 T A 2: 121,364,712 (GRCm39) Y437N possibly damaging Het
Zc3h18 C A 8: 123,135,025 (GRCm39) probably benign Het
Zfp287 G T 11: 62,616,168 (GRCm39) D174E probably damaging Het
Zfp800 A T 6: 28,244,601 (GRCm39) Y121* probably null Het
Zfyve19 T A 2: 119,041,078 (GRCm39) L57Q probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- AATTCCAGATGGACACCAGC -3'
(R):5'- TCGAAGACCAAATTTCTCCAGC -3'

Sequencing Primer
(F):5'- ATCCATCCCAGCGTCTCAGG -3'
(R):5'- AATTTCTCCAGCATCCAGGC -3'
Posted On 2018-04-27