Incidental Mutation 'R6927:Flvcr1'
ID 541138
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 045044-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6927 (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 C at 190757861 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 144 (M144V)
Ref Sequence ENSEMBL: ENSMUSP00000141578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085635] [ENSMUST00000191946] [ENSMUST00000192666]
AlphaFold B2RXV4
Predicted Effect probably benign
Transcript: ENSMUST00000085635
AA Change: M144V

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000082777
Gene: ENSMUSG00000066595
AA Change: M144V

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 possibly damaging
Transcript: ENSMUST00000191946
AA Change: M144V

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141578
Gene: ENSMUSG00000066595
AA Change: M144V

DomainStartEndE-ValueType
low complexity region 40 68 N/A INTRINSIC
Pfam:MFS_1 96 243 2.1e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000192666
AA Change: M102V

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000141985
Gene: ENSMUSG00000066595
AA Change: M102V

DomainStartEndE-ValueType
low complexity region 5 26 N/A INTRINSIC
Pfam:MFS_1 54 198 3.1e-9 PFAM
Meta Mutation Damage Score 0.1049 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.0%
  • 20x: 96.1%
Validation Efficiency 98% (57/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A T 17: 46,635,317 (GRCm39) W229R probably damaging Het
Adck2 T C 6: 39,560,998 (GRCm39) probably null Het
Ahi1 A T 10: 20,930,968 (GRCm39) N936I probably damaging Het
Ass1 T C 2: 31,404,813 (GRCm39) S365P probably damaging Het
Atp9b T C 18: 80,935,072 (GRCm39) K208E possibly damaging Het
Bag6 G A 17: 35,364,898 (GRCm39) probably null Het
Bptf A T 11: 106,945,421 (GRCm39) V2491E probably damaging Het
Cd300ld2 T A 11: 114,904,619 (GRCm39) R83W probably damaging Het
Chrnd T C 1: 87,126,434 (GRCm39) F396L probably damaging Het
Cyp3a13 G A 5: 137,893,546 (GRCm39) P439S probably damaging Het
Dnhd1 C A 7: 105,364,770 (GRCm39) H4279N probably damaging Het
Fam118a T C 15: 84,929,038 (GRCm39) probably null Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fasn T A 11: 120,699,115 (GRCm39) D2386V probably benign Het
Fat1 G A 8: 45,477,532 (GRCm39) V2170I probably benign Het
Fdps T C 3: 89,000,958 (GRCm39) R374G probably benign Het
Fhl5 T C 4: 25,213,681 (GRCm39) D85G probably benign Het
Gask1b T C 3: 79,848,769 (GRCm39) I505T probably damaging Het
Gpr31b A G 17: 13,270,765 (GRCm39) S135P probably damaging Het
Hey2 A T 10: 30,710,413 (GRCm39) D113E probably benign Het
Hoxc5 T A 15: 102,923,807 (GRCm39) I201N probably damaging Het
Ighv1-50 A T 12: 115,083,794 (GRCm39) W3R probably damaging Het
Impa1 A G 3: 10,380,348 (GRCm39) I208T probably benign Het
Iqcj T C 3: 67,954,624 (GRCm39) L43P possibly damaging Het
Itga10 T C 3: 96,564,030 (GRCm39) F895L probably damaging Het
Kdm4b T C 17: 56,706,435 (GRCm39) C850R probably damaging Het
Krt25 A T 11: 99,208,205 (GRCm39) I341N probably damaging Het
L3mbtl3 T A 10: 26,168,567 (GRCm39) R621* probably null Het
Lipm T C 19: 34,078,563 (GRCm39) probably benign Het
Macrod2 A T 2: 142,098,441 (GRCm39) D286V probably damaging Het
Mad2l2 T A 4: 148,225,411 (GRCm39) V27E possibly damaging Het
Map4k4 T A 1: 40,050,842 (GRCm39) H768Q probably benign Het
Mgat4d A G 8: 84,081,496 (GRCm39) N83S probably benign Het
Nucb1 C T 7: 45,148,282 (GRCm39) R141H possibly damaging Het
Or2t46 A G 11: 58,472,491 (GRCm39) K274E possibly damaging Het
Pcdhga2 A C 18: 37,803,719 (GRCm39) D521A probably damaging Het
Pcnx1 T C 12: 81,964,586 (GRCm39) V251A probably benign Het
Pdf A T 8: 107,774,833 (GRCm39) M133K probably damaging Het
Piezo2 A G 18: 63,166,057 (GRCm39) F2058S probably damaging Het
Plekhb2 T A 1: 34,915,982 (GRCm39) probably null Het
Ppp2r3d G C 9: 101,052,547 (GRCm39) H221D probably damaging Het
Prl2c5 A T 13: 13,357,503 (GRCm39) probably null Het
Puf60 T A 15: 75,947,663 (GRCm39) M49L probably benign Het
Rdh16f1 T C 10: 127,624,561 (GRCm39) V133A probably benign Het
Robo2 T A 16: 73,778,946 (GRCm39) D389V probably damaging Het
Slc22a23 G T 13: 34,528,362 (GRCm39) A140D probably benign Het
Slc25a42 A G 8: 70,641,573 (GRCm39) L136P probably damaging Het
Slc36a3 T A 11: 55,020,519 (GRCm39) M284L probably damaging Het
Tas2r115 T A 6: 132,714,895 (GRCm39) I19F probably damaging Het
Tmc2 A G 2: 130,103,300 (GRCm39) H812R probably benign Het
Vmn2r26 A G 6: 124,016,057 (GRCm39) S174G possibly damaging Het
Vstm4 T A 14: 32,585,959 (GRCm39) probably null Het
Vwc2 C A 11: 11,104,250 (GRCm39) P261T probably damaging Het
Zfhx3 C G 8: 109,683,453 (GRCm39) H3631D unknown Het
Zfp335 A G 2: 164,735,640 (GRCm39) C1105R probably damaging Het
Zfp488 A G 14: 33,692,755 (GRCm39) L136P probably benign Het
Zzef1 G A 11: 72,803,983 (GRCm39) R2575H 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
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
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'- AGTCTTTACCTGATTGCCCAG -3'
(R):5'- ATACCTTCCAGTGCCCAAGG -3'

Sequencing Primer
(F):5'- ACCTGATTGCCCAGCACTG -3'
(R):5'- GCTTGGTACCGCAAAACG -3'
Posted On 2018-11-28