Incidental Mutation 'IGL00321:Tfr2'
ID 14563
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tfr2
Ensembl Gene ENSMUSG00000029716
Gene Name transferrin receptor 2
Synonyms Trfr2, Tfr2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00321
Quality Score
Status
Chromosome 5
Chromosomal Location 137568102-137585743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 137572717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 176 (D176G)
Ref Sequence ENSEMBL: ENSMUSP00000142478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031725] [ENSMUST00000031729] [ENSMUST00000139395] [ENSMUST00000196471] [ENSMUST00000198866] [ENSMUST00000198783] [ENSMUST00000199054]
AlphaFold Q9JKX3
Predicted Effect probably benign
Transcript: ENSMUST00000031725
SMART Domains Protein: ENSMUSP00000031725
Gene: ENSMUSG00000029712

DomainStartEndE-ValueType
ACTIN 11 379 4.16e-116 SMART
Predicted Effect probably null
Transcript: ENSMUST00000031729
AA Change: D176G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031729
Gene: ENSMUSG00000029716
AA Change: D176G

DomainStartEndE-ValueType
low complexity region 31 45 N/A INTRINSIC
transmembrane domain 80 102 N/A INTRINSIC
Pfam:PA 235 326 2.2e-12 PFAM
Pfam:Peptidase_M28 407 618 2.9e-16 PFAM
Pfam:TFR_dimer 664 788 5.5e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000139395
SMART Domains Protein: ENSMUSP00000119356
Gene: ENSMUSG00000029712

DomainStartEndE-ValueType
ACTIN 11 426 5.96e-167 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000196375
Predicted Effect probably null
Transcript: ENSMUST00000196471
AA Change: D176G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142814
Gene: ENSMUSG00000029716
AA Change: D176G

DomainStartEndE-ValueType
low complexity region 31 45 N/A INTRINSIC
transmembrane domain 80 102 N/A INTRINSIC
Pfam:PA 231 328 1.3e-12 PFAM
Pfam:Peptidase_M28 418 606 7.5e-15 PFAM
low complexity region 612 625 N/A INTRINSIC
Pfam:TFR_dimer 663 790 1.8e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197705
Predicted Effect probably null
Transcript: ENSMUST00000198866
AA Change: D176G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142720
Gene: ENSMUSG00000029716
AA Change: D176G

DomainStartEndE-ValueType
low complexity region 31 45 N/A INTRINSIC
transmembrane domain 80 102 N/A INTRINSIC
Pfam:PA 231 328 1.3e-12 PFAM
Pfam:Peptidase_M28 418 606 7.5e-15 PFAM
low complexity region 612 625 N/A INTRINSIC
Pfam:TFR_dimer 663 790 1.8e-33 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000198783
AA Change: D176G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142502
Gene: ENSMUSG00000029716
AA Change: D176G

DomainStartEndE-ValueType
low complexity region 31 45 N/A INTRINSIC
transmembrane domain 80 102 N/A INTRINSIC
Pfam:PA 231 328 1.3e-12 PFAM
Pfam:Peptidase_M28 418 606 7.5e-15 PFAM
low complexity region 612 625 N/A INTRINSIC
Pfam:TFR_dimer 663 790 1.8e-33 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000199054
AA Change: D176G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142478
Gene: ENSMUSG00000029716
AA Change: D176G

DomainStartEndE-ValueType
low complexity region 31 45 N/A INTRINSIC
transmembrane domain 80 102 N/A INTRINSIC
Pfam:PA 231 328 1.3e-12 PFAM
Pfam:Peptidase_M28 418 606 7.5e-15 PFAM
low complexity region 612 625 N/A INTRINSIC
Pfam:TFR_dimer 663 790 1.8e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199957
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200190
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]
PHENOTYPE: Homozygous mutant mice exhibit iron homeostasis defects similar to those observed in human hemachromatosis. On a standard diet, mutant mice show periportal hepatic iron loading, splenic iron sparing, and elevated serum transferrin saturations. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l A G 8: 44,078,418 (GRCm39) I602T probably benign Het
Adam39 A G 8: 41,279,783 (GRCm39) R725G possibly damaging Het
Arid2 A G 15: 96,186,970 (GRCm39) E74G probably damaging Het
Carf T A 1: 60,164,001 (GRCm39) probably benign Het
Cit A T 5: 115,984,524 (GRCm39) Q32L probably damaging Het
Dennd4b A G 3: 90,178,514 (GRCm39) T526A possibly damaging Het
Dnhd1 A G 7: 105,327,202 (GRCm39) E717G probably damaging Het
Ercc6 T A 14: 32,290,029 (GRCm39) I968N probably damaging Het
Fcrl1 A T 3: 87,296,942 (GRCm39) Y297F probably damaging Het
Gas2l3 A G 10: 89,249,489 (GRCm39) L543P probably benign Het
Hid1 A T 11: 115,249,895 (GRCm39) D84E probably benign Het
Ifit1bl2 C T 19: 34,597,319 (GRCm39) S99N probably benign Het
Kpna3 A G 14: 61,629,302 (GRCm39) probably benign Het
Myadm C A 7: 3,345,739 (GRCm39) P167Q possibly damaging Het
Ociad1 C T 5: 73,461,886 (GRCm39) probably benign Het
Or2t43 A C 11: 58,457,593 (GRCm39) Y193D probably damaging Het
Pcdh11x A T X: 119,502,265 (GRCm39) K1029N probably benign Het
Pcdhb11 A G 18: 37,555,026 (GRCm39) T119A probably benign Het
Phldb2 T C 16: 45,592,617 (GRCm39) R926G probably damaging Het
Ppwd1 A G 13: 104,353,651 (GRCm39) F369S probably damaging Het
Rreb1 T A 13: 38,100,472 (GRCm39) M201K probably benign Het
Ryr1 A T 7: 28,802,235 (GRCm39) I795N probably damaging Het
Slc3a1 T C 17: 85,368,261 (GRCm39) W510R probably damaging Het
Slc44a5 T C 3: 153,968,576 (GRCm39) L589P probably damaging Het
Tom1 T A 8: 75,778,802 (GRCm39) S24T probably benign Het
Vmn2r66 T A 7: 84,656,299 (GRCm39) Q239L probably benign Het
Ythdc2 A G 18: 44,993,040 (GRCm39) T149A probably benign Het
Zc3h3 A G 15: 75,651,162 (GRCm39) I686T probably damaging Het
Other mutations in Tfr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00960:Tfr2 APN 5 137,569,954 (GRCm39) missense probably benign 0.00
IGL01360:Tfr2 APN 5 137,569,953 (GRCm39) missense probably benign
IGL02967:Tfr2 APN 5 137,581,081 (GRCm39) nonsense probably null
IGL02996:Tfr2 APN 5 137,581,728 (GRCm39) missense probably benign
IGL03278:Tfr2 APN 5 137,569,298 (GRCm39) nonsense probably null
iron-man UTSW 5 137,581,414 (GRCm39) splice site probably benign
R0114:Tfr2 UTSW 5 137,575,727 (GRCm39) missense probably benign 0.00
R1384:Tfr2 UTSW 5 137,585,082 (GRCm39) splice site probably benign
R1525:Tfr2 UTSW 5 137,577,292 (GRCm39) missense probably benign 0.00
R1545:Tfr2 UTSW 5 137,581,561 (GRCm39) missense probably benign 0.03
R1765:Tfr2 UTSW 5 137,581,707 (GRCm39) missense probably damaging 0.98
R1908:Tfr2 UTSW 5 137,569,954 (GRCm39) missense probably benign 0.00
R1943:Tfr2 UTSW 5 137,577,183 (GRCm39) missense probably benign
R3439:Tfr2 UTSW 5 137,572,913 (GRCm39) missense probably benign 0.03
R4332:Tfr2 UTSW 5 137,569,996 (GRCm39) missense probably damaging 1.00
R4626:Tfr2 UTSW 5 137,569,954 (GRCm39) missense probably benign 0.00
R4915:Tfr2 UTSW 5 137,581,673 (GRCm39) missense probably damaging 0.96
R4999:Tfr2 UTSW 5 137,585,187 (GRCm39) missense probably benign 0.00
R5150:Tfr2 UTSW 5 137,572,752 (GRCm39) missense probably benign 0.22
R5200:Tfr2 UTSW 5 137,569,242 (GRCm39) splice site probably benign
R5936:Tfr2 UTSW 5 137,585,268 (GRCm39) missense probably benign 0.00
R6165:Tfr2 UTSW 5 137,578,519 (GRCm39) missense probably damaging 0.97
R6513:Tfr2 UTSW 5 137,572,793 (GRCm39) splice site probably null
R7076:Tfr2 UTSW 5 137,581,836 (GRCm39) missense probably damaging 1.00
R7115:Tfr2 UTSW 5 137,569,977 (GRCm39) missense probably benign
R7524:Tfr2 UTSW 5 137,581,751 (GRCm39) missense probably benign 0.12
R7524:Tfr2 UTSW 5 137,569,751 (GRCm39) nonsense probably null
R7799:Tfr2 UTSW 5 137,569,986 (GRCm39) missense possibly damaging 0.69
R8225:Tfr2 UTSW 5 137,569,725 (GRCm39) missense possibly damaging 0.95
R9040:Tfr2 UTSW 5 137,572,967 (GRCm39) missense probably benign 0.00
R9495:Tfr2 UTSW 5 137,572,701 (GRCm39) missense probably benign 0.01
R9513:Tfr2 UTSW 5 137,575,769 (GRCm39) missense possibly damaging 0.72
R9515:Tfr2 UTSW 5 137,575,769 (GRCm39) missense possibly damaging 0.72
X0067:Tfr2 UTSW 5 137,575,810 (GRCm39) missense probably benign 0.01
Z1176:Tfr2 UTSW 5 137,569,999 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06