Incidental Mutation 'R9202:Flvcr1'
ID 698257
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9202 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 190738044-190758355 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 190744351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 399 (Y399F)
Ref Sequence ENSEMBL: ENSMUSP00000082777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085635] [ENSMUST00000192666]
AlphaFold B2RXV4
Predicted Effect probably benign
Transcript: ENSMUST00000085635
AA Change: Y399F

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000082777
Gene: ENSMUSG00000066595
AA Change: Y399F

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 95% (41/43)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk1 A T 3: 127,479,938 (GRCm39) I17K Het
Ampd3 T C 7: 110,402,346 (GRCm39) I441T probably damaging Het
Ankrd31 C T 13: 97,015,383 (GRCm39) Q1551* probably null Het
Asphd1 T A 7: 126,547,934 (GRCm39) Y123F probably damaging Het
Atf2 A G 2: 73,649,472 (GRCm39) S380P probably damaging Het
Bltp1 A G 3: 36,944,970 (GRCm39) S310G probably benign Het
Ccdc88b T C 19: 6,833,213 (GRCm39) E278G probably damaging Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Cep72 G T 13: 74,198,420 (GRCm39) T320K probably benign Het
Clip4 G A 17: 72,117,884 (GRCm39) G310R probably damaging Het
Ctnna3 T G 10: 64,708,947 (GRCm39) M662R probably damaging Het
Cyp2r1 T G 7: 114,152,047 (GRCm39) probably benign Het
Gimap8 T A 6: 48,633,403 (GRCm39) F407L probably benign Het
Insrr C T 3: 87,720,427 (GRCm39) R1022W probably damaging Het
Ipo4 A T 14: 55,868,597 (GRCm39) probably null Het
Klhl35 A G 7: 99,120,212 (GRCm39) N363S probably benign Het
Loxl4 T C 19: 42,593,452 (GRCm39) T240A probably benign Het
Med23 T C 10: 24,780,202 (GRCm39) V950A probably benign Het
Nceh1 A G 3: 27,333,428 (GRCm39) I175V probably benign Het
Ndst4 C T 3: 125,518,385 (GRCm39) S354L probably benign Het
Or3a10 A G 11: 73,935,441 (GRCm39) S220P probably damaging Het
Or5ac24 T C 16: 59,165,618 (GRCm39) I149V probably benign Het
Or5m5 T A 2: 85,814,801 (GRCm39) F206I probably damaging Het
Osbpl5 T C 7: 143,254,498 (GRCm39) D515G probably benign Het
Pafah2 T C 4: 134,131,440 (GRCm39) S68P probably benign Het
Pcnx2 T A 8: 126,616,416 (GRCm39) probably null Het
Pde11a G T 2: 75,853,077 (GRCm39) S847* probably null Het
Pramel11 T A 4: 143,623,646 (GRCm39) N176I probably benign Het
Pramel19 A G 4: 101,797,860 (GRCm39) D86G probably damaging Het
Ptprq C T 10: 107,522,416 (GRCm39) V546I probably damaging Het
R3hdm2 T G 10: 127,293,521 (GRCm39) S142A probably damaging Het
Ripk2 C A 4: 16,124,502 (GRCm39) G402V probably benign Het
Speg T C 1: 75,367,637 (GRCm39) S715P probably damaging Het
Ttll12 A G 15: 83,466,264 (GRCm39) F399S probably damaging Het
Ugt1a2 G T 1: 88,128,375 (GRCm39) C6F probably benign Het
Vars2 T C 17: 35,977,551 (GRCm39) Y127C probably damaging Het
Vars2 T C 17: 35,974,444 (GRCm39) probably null Het
Vmn2r95 T C 17: 18,644,394 (GRCm39) F10S probably benign Het
Wdr12 T C 1: 60,121,205 (GRCm39) D371G possibly damaging Het
Wdr89 C T 12: 75,679,943 (GRCm39) E104K probably benign Het
Zbtb1 G T 12: 76,433,784 (GRCm39) R590L probably damaging Het
Zfhx3 A G 8: 109,677,920 (GRCm39) D2990G possibly damaging Het
Zfp710 G A 7: 79,731,609 (GRCm39) G262D 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
R9092:Flvcr1 UTSW 1 190,740,364 (GRCm39) missense
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'- GGCAGATCATTGCAAGCATTAC -3'
(R):5'- TCTAGCCCATGTAATGAGTCTTCC -3'

Sequencing Primer
(F):5'- TTACTCAGACACAGCGGTACCTG -3'
(R):5'- CCCATGTAATGAGTCTTCCTATTATG -3'
Posted On 2022-02-07