Incidental Mutation 'R2029:Flvcr1'
ID 220893
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 040036-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2029 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 190738044-190758355 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 190753353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 273 (D273G)
Ref Sequence ENSEMBL: ENSMUSP00000082777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085635] [ENSMUST00000191946] [ENSMUST00000192666]
AlphaFold B2RXV4
Predicted Effect probably benign
Transcript: ENSMUST00000085635
AA Change: D273G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000082777
Gene: ENSMUSG00000066595
AA Change: D273G

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 noncoding transcript
Transcript: ENSMUST00000181050
SMART Domains Protein: ENSMUSP00000138069
Gene: ENSMUSG00000097845

DomainStartEndE-ValueType
low complexity region 97 106 N/A INTRINSIC
low complexity region 170 188 N/A INTRINSIC
low complexity region 246 265 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000191946
SMART Domains Protein: ENSMUSP00000141578
Gene: ENSMUSG00000066595

DomainStartEndE-ValueType
low complexity region 40 68 N/A INTRINSIC
Pfam:MFS_1 96 243 2.1e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192407
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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 98% (97/99)
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 C G 8: 25,140,893 (GRCm39) G286A probably damaging Het
Adcy1 G A 11: 7,089,142 (GRCm39) A519T probably benign Het
Anxa2 T A 9: 69,371,762 (GRCm39) S2T possibly damaging Het
Ap3m1 G A 14: 21,089,217 (GRCm39) S261L possibly damaging Het
Baz2b A T 2: 59,743,067 (GRCm39) probably benign Het
Brdt T A 5: 107,507,090 (GRCm39) S497T probably benign Het
Cdh11 A G 8: 103,406,404 (GRCm39) F23S probably benign Het
Cdh16 A C 8: 105,344,434 (GRCm39) L540R probably damaging Het
Ces5a A T 8: 94,261,205 (GRCm39) L74Q probably damaging Het
Cfap69 A G 5: 5,654,306 (GRCm39) S543P probably damaging Het
Cfap74 T C 4: 155,526,538 (GRCm39) I763T possibly damaging Het
Cma1 T A 14: 56,181,191 (GRCm39) R58S possibly damaging Het
Csmd3 C T 15: 47,701,975 (GRCm39) D1599N probably damaging Het
Cyld A G 8: 89,471,940 (GRCm39) K857R probably benign Het
Cyp3a16 T C 5: 145,388,667 (GRCm39) D270G probably damaging Het
D1Pas1 T C 1: 186,700,286 (GRCm39) S72P possibly damaging Het
Ddx3y T C Y: 1,266,389 (GRCm39) E331G probably benign Het
Degs1l T A 1: 180,882,496 (GRCm39) I86K probably benign Het
Dis3l2 T C 1: 86,782,189 (GRCm39) probably benign Het
Dop1a G T 9: 86,403,418 (GRCm39) W1539C probably damaging Het
Dop1b A G 16: 93,566,323 (GRCm39) K917E probably benign Het
Ecpas G A 4: 58,844,165 (GRCm39) R534* probably null Het
Efcab3 T C 11: 104,990,851 (GRCm39) I5462T probably damaging Het
Eif1ad15 A T 12: 88,288,191 (GRCm39) S21T unknown Het
Epo A G 5: 137,483,447 (GRCm39) probably benign Het
Figla T A 6: 85,997,624 (GRCm39) probably benign Het
Fryl T A 5: 73,179,465 (GRCm39) R304* probably null Het
Gcm1 T G 9: 77,972,326 (GRCm39) D422E possibly damaging Het
Get3 A T 8: 85,746,403 (GRCm39) Y148* probably null Het
Ggt6 A G 11: 72,328,367 (GRCm39) D251G possibly damaging Het
Git2 A G 5: 114,904,511 (GRCm39) probably null Het
Gm18856 A T 13: 14,139,376 (GRCm39) probably benign Het
Gm20939 T A 17: 95,183,252 (GRCm39) probably benign Het
Gpr176 A G 2: 118,109,913 (GRCm39) Y449H probably benign Het
H2-Eb1 A G 17: 34,533,366 (GRCm39) E196G probably damaging Het
H2-M10.6 A G 17: 37,124,799 (GRCm39) T239A possibly damaging Het
Haus5 T C 7: 30,358,825 (GRCm39) N237S possibly damaging Het
Hectd3 T C 4: 116,857,882 (GRCm39) M605T probably damaging Het
Hps3 T C 3: 20,084,691 (GRCm39) I166V probably benign Het
Ighv5-21 A T 12: 114,286,434 (GRCm39) probably benign Het
Kdm6b C T 11: 69,294,418 (GRCm39) G1218D unknown Het
Klhl30 A G 1: 91,285,636 (GRCm39) probably null Het
Kmt2a A T 9: 44,729,747 (GRCm39) S3523R probably benign Het
Lnpep A T 17: 17,788,661 (GRCm39) N481K probably damaging Het
Lrp1b T C 2: 41,231,861 (GRCm39) H1203R probably benign Het
Lrrc8a C T 2: 30,146,661 (GRCm39) R492W probably damaging Het
Magel2 T A 7: 62,030,342 (GRCm39) V1082D unknown Het
Memo1 A C 17: 74,552,049 (GRCm39) H82Q probably null Het
Myh13 A T 11: 67,252,115 (GRCm39) T1408S probably benign Het
Myh2 A T 11: 67,085,451 (GRCm39) N1792Y possibly damaging Het
Myo1e A T 9: 70,275,969 (GRCm39) N728I possibly damaging Het
Myo1e T C 9: 70,285,997 (GRCm39) probably benign Het
Myo5c T C 9: 75,196,337 (GRCm39) probably benign Het
Or11l3 T A 11: 58,516,319 (GRCm39) L184F probably damaging Het
Or1e19 A G 11: 73,316,188 (GRCm39) V207A probably benign Het
Or2d2b T C 7: 106,705,643 (GRCm39) I142V probably benign Het
Or4c11c T A 2: 88,661,749 (GRCm39) M96K possibly damaging Het
Or51g1 T A 7: 102,633,478 (GRCm39) T298S probably damaging Het
Or52e3 T C 7: 102,868,967 (GRCm39) F14S probably damaging Het
Parp2 C T 14: 51,047,543 (GRCm39) A18V probably benign Het
Peli1 T A 11: 21,098,110 (GRCm39) C282S probably damaging Het
Phf8-ps G T 17: 33,286,598 (GRCm39) S68* probably null Het
Piezo2 T C 18: 63,252,006 (GRCm39) M404V possibly damaging Het
Pkn1 T A 8: 84,404,592 (GRCm39) Q496L possibly damaging Het
Pla2r1 A T 2: 60,262,317 (GRCm39) F1093L probably damaging Het
Ppp2r3d A G 9: 101,022,680 (GRCm39) V323A probably damaging Het
Pramel16 T A 4: 143,676,453 (GRCm39) Y217F probably benign Het
Prg2 C T 2: 84,812,342 (GRCm39) probably benign Het
Ptprb G A 10: 116,182,958 (GRCm39) G1545S probably benign Het
Rbm19 A G 5: 120,258,307 (GRCm39) D174G possibly damaging Het
Rhbdf2 T A 11: 116,491,974 (GRCm39) T526S probably damaging Het
Rpusd4 A G 9: 35,179,310 (GRCm39) N42S probably benign Het
Ryr3 T A 2: 112,477,361 (GRCm39) Q4455L possibly damaging Het
Sema4a G T 3: 88,358,668 (GRCm39) H30Q probably damaging Het
Skint1 G A 4: 111,878,653 (GRCm39) probably null Het
Slc1a3 A G 15: 8,675,153 (GRCm39) V284A probably benign Het
Slc30a9 A T 5: 67,497,318 (GRCm39) K288* probably null Het
Slc36a1 G T 11: 55,119,164 (GRCm39) A380S probably benign Het
Slc47a1 G A 11: 61,268,833 (GRCm39) probably benign Het
Snx19 A T 9: 30,340,296 (GRCm39) E478V probably benign Het
Spag6 T C 2: 18,738,916 (GRCm39) probably benign Het
Stag1 A T 9: 100,668,740 (GRCm39) T223S probably damaging Het
Terb1 A T 8: 105,224,732 (GRCm39) probably benign Het
Terf1 A G 1: 15,876,170 (GRCm39) D90G possibly damaging Het
Tex15 A G 8: 34,061,302 (GRCm39) D518G probably damaging Het
Tmem174 T A 13: 98,773,546 (GRCm39) M95L possibly damaging Het
Tnnt3 GTCCAGGCATCTC GTC 7: 142,066,364 (GRCm39) probably benign Het
Usp28 A G 9: 48,896,803 (GRCm39) D8G probably benign Het
Vmn2r105 T C 17: 20,444,840 (GRCm39) T551A probably damaging Het
Vmn2r107 A G 17: 20,595,549 (GRCm39) I701V probably benign Het
Vmn2r13 A C 5: 109,339,943 (GRCm39) F11V probably benign Het
Vmn2r85 G C 10: 130,261,443 (GRCm39) S298* probably null Het
Wdr6 C G 9: 108,452,554 (GRCm39) W443S probably damaging Het
Wipi1 A G 11: 109,474,016 (GRCm39) V210A probably damaging Het
Zfp317 A G 9: 19,556,532 (GRCm39) T47A probably benign Het
Zfp61 T C 7: 23,991,714 (GRCm39) T146A probably benign Het
Zfp964 A G 8: 70,116,567 (GRCm39) E389G unknown Het
Zfyve16 T C 13: 92,640,985 (GRCm39) D1253G probably damaging Het
Zpld2 T C 4: 133,929,669 (GRCm39) K212R possibly damaging Het
Zswim7 G A 11: 62,158,299 (GRCm39) probably benign 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
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
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'- TAGAGCCGTTCCACTCAGTACC -3'
(R):5'- CTGTTAAATGCCGACGCTTAC -3'

Sequencing Primer
(F):5'- TCAGTACCCAGGCAAGACATTG -3'
(R):5'- AAATGCCGACGCTTACTCTTCG -3'
Posted On 2014-08-25