Incidental Mutation 'R4974:Tfrc'
ID 382532
Institutional Source Beutler Lab
Gene Symbol Tfrc
Ensembl Gene ENSMUSG00000022797
Gene Name transferrin receptor
Synonyms Mtvr1, E430033M20Rik, Trfr, p90, 2610028K12Rik, CD71, Mtvr-1, TfR1
MMRRC Submission 042569-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4974 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 32427738-32451612 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 32437097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 252 (V252G)
Ref Sequence ENSEMBL: ENSMUSP00000113028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023486] [ENSMUST00000120680]
AlphaFold Q62351
Predicted Effect probably damaging
Transcript: ENSMUST00000023486
AA Change: V252G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023486
Gene: ENSMUSG00000022797
AA Change: V252G

DomainStartEndE-ValueType
transmembrane domain 66 88 N/A INTRINSIC
Pfam:PA 229 348 1.1e-12 PFAM
Pfam:Peptidase_M28 390 597 1e-13 PFAM
Pfam:TFR_dimer 640 753 3.4e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120680
AA Change: V252G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113028
Gene: ENSMUSG00000022797
AA Change: V252G

DomainStartEndE-ValueType
transmembrane domain 66 88 N/A INTRINSIC
Pfam:PA 225 349 9.2e-11 PFAM
Pfam:Peptidase_M28 403 502 3.5e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137901
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155929
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231912
Meta Mutation Damage Score 0.5938 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 97% (94/97)
MGI Phenotype FUNCTION: This gene encodes a cell surface receptor necessary for cellular iron uptake by the process of receptor-mediated endocytosis. This receptor is required for erythropoiesis and neurologic development. Mice that are deficient in this receptor show impaired erythroid development and abnormal iron homeostasis. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous mutant embryos do not survive past E12.5, exhibiting anemia, hydrops fetalis, and neurological defects. Haploinsufficiency results in abnromal erythrocytes and tissue iron deficiency. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730061H03Rik C T 14: 55,797,574 (GRCm39) probably benign Het
Acsf2 A C 11: 94,460,155 (GRCm39) M399R possibly damaging Het
Adra2c C A 5: 35,438,268 (GRCm39) R347S probably benign Het
Akap9 A G 5: 4,011,466 (GRCm39) K723R possibly damaging Het
Anxa9 A C 3: 95,215,324 (GRCm39) probably benign Het
Aqr T C 2: 113,943,832 (GRCm39) H1102R probably damaging Het
Armh3 A T 19: 45,808,726 (GRCm39) F655Y probably damaging Het
Arrdc2 A G 8: 71,290,162 (GRCm39) V173A probably benign Het
Aspm T C 1: 139,405,748 (GRCm39) V1545A probably benign Het
Bbs5 C T 2: 69,477,578 (GRCm39) probably benign Het
Bnip2 A G 9: 69,910,716 (GRCm39) T255A possibly damaging Het
Cacna1b T C 2: 24,538,535 (GRCm39) T1531A probably damaging Het
Cast T C 13: 74,955,942 (GRCm39) K9R probably benign Het
Cfap46 A T 7: 139,187,104 (GRCm39) probably null Het
Cfap57 G T 4: 118,450,251 (GRCm39) L624M probably damaging Het
Cyp2c39 A T 19: 39,552,323 (GRCm39) M339L probably benign Het
Dcst1 T A 3: 89,265,110 (GRCm39) T247S probably benign Het
Dnajc18 T A 18: 35,816,372 (GRCm39) I189F possibly damaging Het
Eef2kmt T C 16: 5,066,876 (GRCm39) T126A probably benign Het
Epha2 A G 4: 141,049,016 (GRCm39) E624G probably damaging Het
Erbb3 G A 10: 128,408,317 (GRCm39) H866Y probably benign Het
F13a1 C T 13: 37,100,837 (GRCm39) probably null Het
Fgd3 T A 13: 49,432,078 (GRCm39) N392I probably damaging Het
Fgf7 A T 2: 125,930,160 (GRCm39) M98L probably benign Het
G2e3 T A 12: 51,415,922 (GRCm39) S553T probably benign Het
Glipr1 C A 10: 111,829,411 (GRCm39) E117* probably null Het
Gm11060 A T 2: 104,924,128 (GRCm39) probably benign Het
Gm4787 A G 12: 81,424,403 (GRCm39) I585T probably damaging Het
Gm6055 A T 14: 48,316,915 (GRCm39) noncoding transcript Het
Gpbar1 TACCAC TAC 1: 74,318,704 (GRCm39) probably benign Het
Gpt2 T A 8: 86,246,068 (GRCm39) probably benign Het
Gtf2ird1 A T 5: 134,386,685 (GRCm39) Y345* probably null Het
Hmcn1 T A 1: 150,695,200 (GRCm39) T235S probably benign Het
Igkv5-48 A G 6: 69,703,738 (GRCm39) Y56H possibly damaging Het
Il17re C T 6: 113,446,530 (GRCm39) T427I probably benign Het
Itpr3 A T 17: 27,302,582 (GRCm39) D80V probably damaging Het
Kif21a G T 15: 90,833,213 (GRCm39) H1317N probably benign Het
Kif28 T C 1: 179,526,209 (GRCm39) K144E probably damaging Het
Kif4-ps A C 12: 101,113,330 (GRCm39) noncoding transcript Het
Klk1b11 C T 7: 43,427,160 (GRCm39) T148I probably damaging Het
Klkb1 T A 8: 45,739,995 (GRCm39) H99L probably damaging Het
Kpna6 A C 4: 129,550,198 (GRCm39) probably null Het
Lama3 G T 18: 12,685,883 (GRCm39) K1132N probably damaging Het
Lcp1 T A 14: 75,445,911 (GRCm39) L264* probably null Het
Map2 T C 1: 66,452,664 (GRCm39) V360A probably benign Het
Med13 A T 11: 86,189,673 (GRCm39) S1079T probably damaging Het
Mettl13 A G 1: 162,364,789 (GRCm39) M162T probably damaging Het
Mppe1 T G 18: 67,361,133 (GRCm39) E208A probably benign Het
Msantd2 A C 9: 37,400,675 (GRCm39) K19T possibly damaging Het
Mylk3 A G 8: 86,091,412 (GRCm39) V131A probably damaging Het
Myocd A T 11: 65,074,299 (GRCm39) S609T possibly damaging Het
Ncbp3 G A 11: 72,944,355 (GRCm39) probably null Het
Neb T A 2: 52,136,871 (GRCm39) L3203F probably damaging Het
Notch2 C A 3: 98,046,949 (GRCm39) T1756K probably benign Het
Nphp4 A T 4: 152,622,250 (GRCm39) R544W probably damaging Het
Or3a1c A T 11: 74,046,745 (GRCm39) Y255F probably benign Het
Or4p18 T G 2: 88,232,756 (GRCm39) H174P probably damaging Het
Or5c1 A T 2: 37,222,578 (GRCm39) D273V probably damaging Het
Parp4 T A 14: 56,827,355 (GRCm39) V163E possibly damaging Het
Pcdhgb1 C A 18: 37,815,425 (GRCm39) Q639K probably benign Het
Pcnx2 A G 8: 126,577,869 (GRCm39) V936A probably benign Het
Pcsk7 T A 9: 45,830,160 (GRCm39) M418K probably damaging Het
Pglyrp4 T C 3: 90,640,314 (GRCm39) I188T probably benign Het
Pgs1 A G 11: 117,896,345 (GRCm39) R339G probably benign Het
Pik3r3 A G 4: 116,143,388 (GRCm39) I294V probably benign Het
Pik3r6 A G 11: 68,430,771 (GRCm39) D520G probably damaging Het
Pkdrej A G 15: 85,704,610 (GRCm39) V442A probably benign Het
Ppfibp1 T A 6: 146,931,917 (GRCm39) probably benign Het
Ppp3ca C A 3: 136,640,810 (GRCm39) Q454K possibly damaging Het
Ppp5c A T 7: 16,743,861 (GRCm39) M191K probably damaging Het
Prl4a1 A T 13: 28,207,308 (GRCm39) Y194F possibly damaging Het
Ptpn21 G T 12: 98,646,362 (GRCm39) T1032K probably damaging Het
Ptprh A T 7: 4,554,006 (GRCm39) probably null Het
Ptprm T A 17: 66,985,062 (GRCm39) R1447S probably benign Het
Pxk T A 14: 8,140,734 (GRCm38) D236E probably damaging Het
Qars1 T C 9: 108,386,130 (GRCm39) F107S probably damaging Het
Rbbp6 A G 7: 122,599,031 (GRCm39) probably benign Het
Rptor A T 11: 119,712,466 (GRCm39) probably benign Het
Rtn4 T A 11: 29,690,994 (GRCm39) M1095K probably damaging Het
Serpinb3b T A 1: 107,082,445 (GRCm39) H273L probably benign Het
Sgce G A 6: 4,689,630 (GRCm39) T401M probably benign Het
Slc12a6 C T 2: 112,188,870 (GRCm39) R1083W probably damaging Het
Slc45a4 A T 15: 73,456,299 (GRCm39) M635K probably damaging Het
Slc6a1 T A 6: 114,284,662 (GRCm39) V240D probably damaging Het
Snx9 G A 17: 5,952,794 (GRCm39) probably null Het
Spred3 A G 7: 28,867,249 (GRCm39) V49A probably damaging Het
Tars1 A G 15: 11,390,477 (GRCm39) F334S probably damaging Het
Tdpoz1 A G 3: 93,578,454 (GRCm39) V110A probably benign Het
Tm6sf2 T C 8: 70,528,128 (GRCm39) probably benign Het
Txlnb T C 10: 17,714,717 (GRCm39) V383A probably damaging Het
Utp20 C A 10: 88,652,811 (GRCm39) V368L probably benign Het
Vmn2r12 A T 5: 109,239,372 (GRCm39) V397E probably damaging Het
Zdhhc12 G A 2: 29,981,538 (GRCm39) R175W probably damaging Het
Zfyve9 A G 4: 108,538,097 (GRCm39) probably null Het
Other mutations in Tfrc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Tfrc APN 16 32,443,646 (GRCm39) critical splice donor site probably null
IGL01553:Tfrc APN 16 32,447,403 (GRCm39) missense probably benign 0.07
IGL01667:Tfrc APN 16 32,443,261 (GRCm39) unclassified probably benign
IGL01761:Tfrc APN 16 32,447,369 (GRCm39) missense probably damaging 1.00
IGL02085:Tfrc APN 16 32,440,004 (GRCm39) missense probably benign 0.14
IGL02093:Tfrc APN 16 32,449,012 (GRCm39) missense probably benign 0.06
IGL02401:Tfrc APN 16 32,435,999 (GRCm39) missense probably damaging 1.00
IGL02548:Tfrc APN 16 32,443,640 (GRCm39) nonsense probably null
IGL02715:Tfrc APN 16 32,443,189 (GRCm39) missense probably benign
IGL03157:Tfrc APN 16 32,439,223 (GRCm39) missense probably benign 0.00
IGL03242:Tfrc APN 16 32,448,930 (GRCm39) missense probably damaging 1.00
IGL03410:Tfrc APN 16 32,443,649 (GRCm39) splice site probably null
R0034:Tfrc UTSW 16 32,434,214 (GRCm39) critical splice donor site probably null
R0098:Tfrc UTSW 16 32,442,244 (GRCm39) missense probably damaging 0.98
R0098:Tfrc UTSW 16 32,442,244 (GRCm39) missense probably damaging 0.98
R0508:Tfrc UTSW 16 32,448,997 (GRCm39) missense probably damaging 1.00
R1474:Tfrc UTSW 16 32,445,467 (GRCm39) missense probably damaging 0.99
R1613:Tfrc UTSW 16 32,442,193 (GRCm39) missense probably damaging 1.00
R1694:Tfrc UTSW 16 32,433,443 (GRCm39) missense probably damaging 0.99
R2430:Tfrc UTSW 16 32,445,529 (GRCm39) missense probably damaging 1.00
R3807:Tfrc UTSW 16 32,435,644 (GRCm39) missense possibly damaging 0.47
R4613:Tfrc UTSW 16 32,437,475 (GRCm39) missense probably damaging 1.00
R4661:Tfrc UTSW 16 32,448,969 (GRCm39) missense probably damaging 0.99
R5138:Tfrc UTSW 16 32,434,027 (GRCm39) nonsense probably null
R5668:Tfrc UTSW 16 32,442,194 (GRCm39) missense probably damaging 1.00
R5867:Tfrc UTSW 16 32,439,230 (GRCm39) missense possibly damaging 0.71
R5942:Tfrc UTSW 16 32,445,533 (GRCm39) missense possibly damaging 0.65
R6185:Tfrc UTSW 16 32,437,090 (GRCm39) missense probably benign 0.19
R6417:Tfrc UTSW 16 32,449,057 (GRCm39) missense probably damaging 0.99
R7453:Tfrc UTSW 16 32,437,867 (GRCm39) missense probably damaging 1.00
R7559:Tfrc UTSW 16 32,440,235 (GRCm39) splice site probably null
R7791:Tfrc UTSW 16 32,437,985 (GRCm39) missense probably benign 0.00
R7792:Tfrc UTSW 16 32,437,985 (GRCm39) missense probably benign 0.00
R7793:Tfrc UTSW 16 32,437,985 (GRCm39) missense probably benign 0.00
R7830:Tfrc UTSW 16 32,437,985 (GRCm39) missense probably benign 0.00
R7832:Tfrc UTSW 16 32,437,985 (GRCm39) missense probably benign 0.00
R7943:Tfrc UTSW 16 32,449,039 (GRCm39) missense probably benign
R7974:Tfrc UTSW 16 32,440,101 (GRCm39) missense probably null 0.89
R7980:Tfrc UTSW 16 32,435,967 (GRCm39) missense probably benign 0.04
R8055:Tfrc UTSW 16 32,437,474 (GRCm39) missense probably benign 0.24
R8215:Tfrc UTSW 16 32,443,848 (GRCm39) missense probably damaging 1.00
R9095:Tfrc UTSW 16 32,433,571 (GRCm39) missense possibly damaging 0.77
R9379:Tfrc UTSW 16 32,443,819 (GRCm39) missense probably damaging 1.00
R9677:Tfrc UTSW 16 32,434,179 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGTTTGGAATTTTATTTTGCCCGCC -3'
(R):5'- AGCTTTGGGCATTTGCAACC -3'

Sequencing Primer
(F):5'- TGCCTCCCAAGTACTAAGATTAGAGG -3'
(R):5'- TACAGAGAAATCTTCCCAGGAAAG -3'
Posted On 2016-04-27