Incidental Mutation 'R9092:Flvcr1'
ID 691049
Institutional Source Beutler Lab
Gene Symbol Flvcr1
Ensembl Gene ENSMUSG00000066595
Gene Name feline leukemia virus subgroup C cellular receptor 1
Synonyms 9630055N22Rik, Mfsd7b
MMRRC Submission 068908-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9092 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 190738044-190758355 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 190740364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 552 (V552E)
Ref Sequence ENSEMBL: ENSMUSP00000082777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085635] [ENSMUST00000192666]
AlphaFold B2RXV4
Predicted Effect
SMART Domains Protein: ENSMUSP00000082777
Gene: ENSMUSG00000066595
AA Change: V552E

DomainStartEndE-ValueType
low complexity region 40 68 N/A INTRINSIC
Pfam:MFS_1 100 483 1.5e-28 PFAM
transmembrane domain 498 517 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192666
SMART Domains Protein: ENSMUSP00000141985
Gene: ENSMUSG00000066595

DomainStartEndE-ValueType
low complexity region 5 26 N/A INTRINSIC
Pfam:MFS_1 54 198 3.1e-9 PFAM
Meta Mutation Damage Score 0.0852 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 93% (56/60)
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 of transporter proteins. The encoded protein is a heme transporter that may play a critical role in erythropoiesis by protecting developing erythroid cells from heme toxicity. This gene may play a role in posterior column ataxia with retinitis pigmentosa and the hematological disorder Diamond-Blackfan syndrome. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit runting, cardiomegaly and splenomegaly, lack definitive erythropoiesis, develop severe hyperchromic macrocytic anemia and reticulocytopenia, and show craniofacial and limb defects and intrauterine lethality modulated by genetic background. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Chl1 T C 6: 103,645,815 (GRCm39) probably benign Het
Crtc3 T C 7: 80,239,628 (GRCm39) M575V probably benign Het
Cux1 T A 5: 136,514,671 (GRCm39) N22I probably damaging Het
Dcun1d2 G A 8: 13,307,935 (GRCm39) R248W probably damaging Het
Dlc1 G T 8: 37,199,860 (GRCm39) H7Q probably benign Het
Drd2 A G 9: 49,307,004 (GRCm39) D30G probably benign Het
Duxf3 GCCC GCC 10: 58,066,944 (GRCm39) probably null Het
E2f7 T C 10: 110,616,874 (GRCm39) S705P probably benign Het
Ephb3 G A 16: 21,041,214 (GRCm39) S977N probably benign Het
F13a1 T G 13: 37,089,993 (GRCm39) D448A probably benign Het
Fam216b T C 14: 78,322,537 (GRCm39) T56A possibly damaging Het
Fcho2 T C 13: 98,886,391 (GRCm39) T408A probably benign Het
Gab3 CTT CTTGTT X: 74,043,612 (GRCm39) probably benign Het
Gab3 TCT TCTGCT X: 74,043,602 (GRCm39) probably benign Het
Galnt15 A G 14: 31,780,196 (GRCm39) K622E probably benign Het
Gjb3 GCCAGATGCGCCCA GCCAGATGCGCCCAGATGCGCCCA 4: 127,220,458 (GRCm39) probably null Het
Gjb3 A AGATGCGCCCG 4: 127,220,471 (GRCm39) probably null Het
Gm5414 T G 15: 101,536,345 (GRCm39) R93S probably benign Het
Gtf2i A G 5: 134,318,241 (GRCm39) *87Q probably null Het
Il7r T A 15: 9,510,270 (GRCm39) H261L probably benign Het
Itsn1 T A 16: 91,609,002 (GRCm39) M250K possibly damaging Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Liat1 A G 11: 75,893,887 (GRCm39) D88G possibly damaging Het
Lrrc47 C A 4: 154,096,421 (GRCm39) T72K possibly damaging Het
Map2k4 C A 11: 65,581,599 (GRCm39) R371L probably benign Het
Mmrn2 T C 14: 34,118,587 (GRCm39) F158L probably benign Het
Mtus1 A T 8: 41,455,475 (GRCm39) L242Q probably damaging Het
Myo5a T C 9: 75,054,414 (GRCm39) probably null Het
Noc3l T A 19: 38,798,487 (GRCm39) K305I probably damaging Het
Or4p8 T C 2: 88,727,321 (GRCm39) T207A probably damaging Het
Pag1 T C 3: 9,764,848 (GRCm39) T102A probably benign Het
Pam A G 1: 97,791,976 (GRCm39) S482P probably benign Het
Pax1 T G 2: 147,204,287 (GRCm39) W23G unknown Het
Pcdhgb1 T A 18: 37,813,989 (GRCm39) V160D possibly damaging Het
Pdzph1 T C 17: 59,280,125 (GRCm39) D719G probably damaging Het
Phlda1 T C 10: 111,342,474 (GRCm39) L70S possibly damaging Het
Pikfyve G A 1: 65,283,559 (GRCm39) R732K probably damaging Het
Pkd1 G T 17: 24,788,347 (GRCm39) V702F possibly damaging Het
Pkhd1 A G 1: 20,632,586 (GRCm39) Y610H probably benign Het
Pofut1 T G 2: 153,101,508 (GRCm39) H87Q probably benign Het
Runx2 C A 17: 45,046,443 (GRCm39) D109Y probably damaging Het
Serpina1b T A 12: 103,696,540 (GRCm39) I290F probably benign Het
Sez6 G A 11: 77,865,121 (GRCm39) E623K possibly damaging Het
Sh3tc1 T C 5: 35,874,321 (GRCm39) N198S probably benign Het
Slc27a6 C A 18: 58,742,330 (GRCm39) R515S probably benign Het
Sorbs3 C T 14: 70,445,004 (GRCm39) V25I probably benign Het
Speg A G 1: 75,399,378 (GRCm39) E2275G probably benign Het
Tmem161b C T 13: 84,440,503 (GRCm39) T307I possibly damaging Het
Tmem30a T C 9: 79,678,581 (GRCm39) D361G probably damaging Het
Tmprss11c T C 5: 86,385,495 (GRCm39) T326A probably benign Het
Tpbg T C 9: 85,726,916 (GRCm39) V295A possibly damaging Het
Ulk4 A T 9: 120,903,003 (GRCm39) I1158N Het
Utp20 C A 10: 88,604,679 (GRCm39) A1739S probably benign Het
Utp20 T C 10: 88,611,180 (GRCm39) N1379S probably damaging Het
Vmn1r66 T A 7: 10,008,110 (GRCm39) I308F possibly damaging Het
Vmn2r101 A T 17: 19,809,807 (GRCm39) T198S probably benign Het
Vps16 T C 2: 130,281,593 (GRCm39) I318T probably damaging Het
Wdr11 T A 7: 129,226,451 (GRCm39) W750R probably damaging Het
Zfp608 A G 18: 55,031,648 (GRCm39) I764T probably benign Het
Zfp708 C A 13: 67,218,564 (GRCm39) D420Y probably damaging Het
Other mutations in Flvcr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Flvcr1 APN 1 190,747,686 (GRCm39) nonsense probably null
IGL01089:Flvcr1 APN 1 190,745,587 (GRCm39) missense probably damaging 0.98
IGL02572:Flvcr1 APN 1 190,757,843 (GRCm39) missense probably damaging 1.00
IGL03248:Flvcr1 APN 1 190,757,939 (GRCm39) missense probably damaging 1.00
R0009:Flvcr1 UTSW 1 190,740,388 (GRCm39) missense probably benign
R0122:Flvcr1 UTSW 1 190,753,423 (GRCm39) missense possibly damaging 0.79
R0363:Flvcr1 UTSW 1 190,744,451 (GRCm39) splice site probably benign
R0417:Flvcr1 UTSW 1 190,743,416 (GRCm39) missense probably benign 0.05
R0718:Flvcr1 UTSW 1 190,757,779 (GRCm39) missense probably damaging 1.00
R1061:Flvcr1 UTSW 1 190,740,370 (GRCm39) missense probably benign 0.01
R1815:Flvcr1 UTSW 1 190,757,577 (GRCm39) missense probably damaging 1.00
R2029:Flvcr1 UTSW 1 190,753,353 (GRCm39) missense probably benign 0.01
R4590:Flvcr1 UTSW 1 190,744,343 (GRCm39) missense probably benign 0.05
R4766:Flvcr1 UTSW 1 190,753,303 (GRCm39) missense probably benign 0.00
R4889:Flvcr1 UTSW 1 190,757,764 (GRCm39) missense probably damaging 1.00
R4956:Flvcr1 UTSW 1 190,758,383 (GRCm39) unclassified probably benign
R4976:Flvcr1 UTSW 1 190,757,692 (GRCm39) missense probably damaging 1.00
R5434:Flvcr1 UTSW 1 190,758,206 (GRCm39) missense probably benign 0.07
R5508:Flvcr1 UTSW 1 190,757,656 (GRCm39) missense probably damaging 1.00
R5930:Flvcr1 UTSW 1 190,741,748 (GRCm39) missense probably damaging 1.00
R6698:Flvcr1 UTSW 1 190,757,929 (GRCm39) missense probably damaging 1.00
R6927:Flvcr1 UTSW 1 190,757,861 (GRCm39) missense possibly damaging 0.66
R7544:Flvcr1 UTSW 1 190,758,143 (GRCm39) missense probably damaging 0.99
R7654:Flvcr1 UTSW 1 190,743,802 (GRCm39) missense possibly damaging 0.83
R7853:Flvcr1 UTSW 1 190,757,843 (GRCm39) missense probably damaging 1.00
R8185:Flvcr1 UTSW 1 190,747,681 (GRCm39) missense probably damaging 1.00
R8387:Flvcr1 UTSW 1 190,743,731 (GRCm39) critical splice donor site probably null
R8995:Flvcr1 UTSW 1 190,743,817 (GRCm39) missense probably damaging 1.00
R9202:Flvcr1 UTSW 1 190,744,351 (GRCm39) missense probably benign 0.04
R9448:Flvcr1 UTSW 1 190,744,406 (GRCm39) missense possibly damaging 0.65
R9487:Flvcr1 UTSW 1 190,743,829 (GRCm39) missense possibly damaging 0.79
X0064:Flvcr1 UTSW 1 190,757,644 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- TAACACGAGGACATTGTAAGCAC -3'
(R):5'- CCGGGCTTACAAACATTGACG -3'

Sequencing Primer
(F):5'- TGTAAGCACAATCGCTGATTAACAC -3'
(R):5'- CGGGCTTACAAACATTGACGTTAAAG -3'
Posted On 2021-12-30