Incidental Mutation 'R0417:Flvcr1'
ID 40363
Institutional Source Beutler Lab
Gene Symbol Flvcr1
Ensembl Gene ENSMUSG00000066595
Gene Name feline leukemia virus subgroup C cellular receptor 1
Synonyms Mfsd7b, 9630055N22Rik
MMRRC Submission 038619-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0417 (G1)
Quality Score 168
Status Not validated
Chromosome 1
Chromosomal Location 191005847-191026158 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 191011219 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 466 (M466K)
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: M466K

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000082777
Gene: ENSMUSG00000066595
AA Change: M466K

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

low complexity region 5 26 N/A INTRINSIC
Pfam:MFS_1 54 198 3.1e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193399
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194589
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194917
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
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 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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700027J19Rik A G 7: 4,151,483 (GRCm38) L102P probably damaging Het
1700030K09Rik A G 8: 72,445,400 (GRCm38) K217R probably damaging Het
1810024B03Rik A G 2: 127,186,944 (GRCm38) Y112H probably damaging Het
A430078G23Rik T C 8: 3,388,957 (GRCm38) probably benign Het
Acot2 T C 12: 83,990,613 (GRCm38) Y234H probably benign Het
Alox12e C T 11: 70,321,865 (GRCm38) V53I probably benign Het
Ankrd50 T C 3: 38,456,361 (GRCm38) H619R probably damaging Het
Arfgef3 A T 10: 18,603,511 (GRCm38) L1452Q probably damaging Het
Arhgap42 T C 9: 9,180,033 (GRCm38) S82G possibly damaging Het
Bicra C A 7: 15,972,322 (GRCm38) R1398L probably damaging Het
Boc T C 16: 44,520,234 (GRCm38) T118A probably benign Het
Btnl9 A G 11: 49,175,595 (GRCm38) Y381H probably damaging Het
Cbln3 T G 14: 55,884,129 (GRCm38) E20A probably benign Het
Csrnp3 A G 2: 66,019,543 (GRCm38) Y171C probably benign Het
Cyp2d9 A T 15: 82,455,951 (GRCm38) I181F probably damaging Het
Cyp7b1 T A 3: 18,096,691 (GRCm38) T295S probably damaging Het
Dbn1 C T 13: 55,474,916 (GRCm38) E585K probably damaging Het
Dok1 A T 6: 83,031,569 (GRCm38) D377E probably damaging Het
Eed A T 7: 89,971,552 (GRCm38) Y87* probably null Het
Entpd3 T C 9: 120,557,421 (GRCm38) V156A probably damaging Het
Exo5 T A 4: 120,922,072 (GRCm38) T199S probably damaging Het
Extl2 T C 3: 116,024,357 (GRCm38) I106T probably benign Het
Ezh2 A G 6: 47,551,726 (GRCm38) C291R probably benign Het
Fras1 G T 5: 96,691,372 (GRCm38) M1583I probably benign Het
Fzd9 G T 5: 135,249,619 (GRCm38) R471S probably damaging Het
Galr1 A T 18: 82,405,540 (GRCm38) F204Y probably damaging Het
Gm38394 A T 1: 133,658,538 (GRCm38) S354T probably benign Het
Gna11 A T 10: 81,530,904 (GRCm38) I324N probably damaging Het
Gucy1a2 A G 9: 3,759,484 (GRCm38) E430G possibly damaging Het
Hhatl C T 9: 121,788,762 (GRCm38) A254T probably benign Het
Ikzf1 A C 11: 11,769,352 (GRCm38) N353T probably benign Het
Il7 T A 3: 7,576,027 (GRCm38) T110S probably damaging Het
Keg1 A G 19: 12,711,060 (GRCm38) N53D probably damaging Het
Klhl21 T C 4: 152,015,507 (GRCm38) I558T probably damaging Het
Lca5l G A 16: 96,162,653 (GRCm38) T357M probably damaging Het
Lrba T C 3: 86,715,654 (GRCm38) S2448P probably damaging Het
Map3k6 T A 4: 133,248,082 (GRCm38) Y709* probably null Het
Megf6 A G 4: 154,267,967 (GRCm38) E1261G probably benign Het
Mettl3 C T 14: 52,296,698 (GRCm38) G473D probably damaging Het
Mga A G 2: 119,902,790 (GRCm38) I40V probably damaging Het
Mmp13 T A 9: 7,276,602 (GRCm38) D232E probably benign Het
Nampt T C 12: 32,833,101 (GRCm38) V95A probably benign Het
Nbeal1 T C 1: 60,247,734 (GRCm38) V905A probably benign Het
Nomo1 A T 7: 46,068,698 (GRCm38) E840V possibly damaging Het
Nprl2 A T 9: 107,543,298 (GRCm38) I101F probably damaging Het
Nup160 A T 2: 90,735,427 (GRCm38) I1378F possibly damaging Het
Ogdhl T C 14: 32,326,979 (GRCm38) S69P probably damaging Het
Or2y17 T A 11: 49,340,673 (GRCm38) I47N possibly damaging Het
Or4a68 C A 2: 89,440,175 (GRCm38) V35L possibly damaging Het
Or4k77 A G 2: 111,369,105 (GRCm38) S158G possibly damaging Het
Or5be3 A T 2: 87,033,445 (GRCm38) Y259N probably damaging Het
Or8b12i G A 9: 20,171,214 (GRCm38) A119V probably damaging Het
Or8c16 A G 9: 38,219,455 (GRCm38) I211V probably benign Het
Or8c8 T C 9: 38,253,864 (GRCm38) F149S probably benign Het
Osbpl3 C T 6: 50,348,018 (GRCm38) V167I probably benign Het
Pclo T A 5: 14,713,022 (GRCm38) H3836Q unknown Het
Prkcg A T 7: 3,304,304 (GRCm38) probably null Het
Ror1 A T 4: 100,412,000 (GRCm38) H345L possibly damaging Het
Slc36a2 C T 11: 55,181,544 (GRCm38) probably null Het
Slc40a1 G A 1: 45,911,374 (GRCm38) P306L possibly damaging Het
Slc9a8 C A 2: 167,457,344 (GRCm38) T239K probably benign Het
Snapc3 A G 4: 83,450,162 (GRCm38) I299V probably benign Het
Sp3 G A 2: 72,971,501 (GRCm38) A56V possibly damaging Het
Spag17 T A 3: 100,065,554 (GRCm38) S1361T probably benign Het
Sptbn2 A G 19: 4,737,926 (GRCm38) T978A probably benign Het
Stom C A 2: 35,321,632 (GRCm38) V126F probably damaging Het
Stpg2 A G 3: 139,218,321 (GRCm38) T162A probably damaging Het
Stxbp6 G A 12: 44,902,957 (GRCm38) T63M probably damaging Het
Tatdn1 A C 15: 58,921,350 (GRCm38) I69S probably benign Het
Tbata A T 10: 61,180,339 (GRCm38) D198V probably damaging Het
Tbc1d5 T C 17: 50,756,705 (GRCm38) I638V probably benign Het
Tomm70a A G 16: 57,149,903 (GRCm38) D548G probably benign Het
Ust A G 10: 8,245,936 (GRCm38) F303L probably damaging Het
Vps13d A G 4: 144,976,560 (GRCm38) S4306P probably benign Het
Zfp691 A G 4: 119,170,496 (GRCm38) S180P possibly damaging Het
Other mutations in Flvcr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Flvcr1 APN 1 191,015,489 (GRCm38) nonsense probably null
IGL01089:Flvcr1 APN 1 191,013,390 (GRCm38) missense probably damaging 0.98
IGL02572:Flvcr1 APN 1 191,025,646 (GRCm38) missense probably damaging 1.00
IGL03248:Flvcr1 APN 1 191,025,742 (GRCm38) missense probably damaging 1.00
R0009:Flvcr1 UTSW 1 191,008,191 (GRCm38) missense probably benign
R0122:Flvcr1 UTSW 1 191,021,226 (GRCm38) missense possibly damaging 0.79
R0363:Flvcr1 UTSW 1 191,012,254 (GRCm38) splice site probably benign
R0718:Flvcr1 UTSW 1 191,025,582 (GRCm38) missense probably damaging 1.00
R1061:Flvcr1 UTSW 1 191,008,173 (GRCm38) missense probably benign 0.01
R1815:Flvcr1 UTSW 1 191,025,380 (GRCm38) missense probably damaging 1.00
R2029:Flvcr1 UTSW 1 191,021,156 (GRCm38) missense probably benign 0.01
R4590:Flvcr1 UTSW 1 191,012,146 (GRCm38) missense probably benign 0.05
R4766:Flvcr1 UTSW 1 191,021,106 (GRCm38) missense probably benign 0.00
R4889:Flvcr1 UTSW 1 191,025,567 (GRCm38) missense probably damaging 1.00
R4976:Flvcr1 UTSW 1 191,025,495 (GRCm38) missense probably damaging 1.00
R5434:Flvcr1 UTSW 1 191,026,009 (GRCm38) missense probably benign 0.07
R5508:Flvcr1 UTSW 1 191,025,459 (GRCm38) missense probably damaging 1.00
R5930:Flvcr1 UTSW 1 191,009,551 (GRCm38) missense probably damaging 1.00
R6698:Flvcr1 UTSW 1 191,025,732 (GRCm38) missense probably damaging 1.00
R6927:Flvcr1 UTSW 1 191,025,664 (GRCm38) missense possibly damaging 0.66
R7544:Flvcr1 UTSW 1 191,025,946 (GRCm38) missense probably damaging 0.99
R7654:Flvcr1 UTSW 1 191,011,605 (GRCm38) missense possibly damaging 0.83
R7853:Flvcr1 UTSW 1 191,025,646 (GRCm38) missense probably damaging 1.00
R8185:Flvcr1 UTSW 1 191,015,484 (GRCm38) missense probably damaging 1.00
R8387:Flvcr1 UTSW 1 191,011,534 (GRCm38) critical splice donor site probably null
R8995:Flvcr1 UTSW 1 191,011,620 (GRCm38) missense probably damaging 1.00
R9092:Flvcr1 UTSW 1 191,008,167 (GRCm38) missense
R9202:Flvcr1 UTSW 1 191,012,154 (GRCm38) missense probably benign 0.04
R9448:Flvcr1 UTSW 1 191,012,209 (GRCm38) missense possibly damaging 0.65
R9487:Flvcr1 UTSW 1 191,011,632 (GRCm38) missense possibly damaging 0.79
X0064:Flvcr1 UTSW 1 191,025,447 (GRCm38) missense probably benign 0.08
Predicted Primers PCR Primer

Sequencing Primer
(F):5'- agccatctcaccagccc -3'
Posted On 2013-05-23