Incidental Mutation 'IGL01360:Tfr2'
ID75702
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tfr2
Ensembl Gene ENSMUSG00000029716
Gene Nametransferrin receptor 2
SynonymsTrfr2, Tfr2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01360
Quality Score
Status
Chromosome5
Chromosomal Location137569840-137587481 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 137571691 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 120 (V120I)
Ref Sequence ENSEMBL: ENSMUSP00000142478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031725] [ENSMUST00000031729] [ENSMUST00000139395] [ENSMUST00000196471] [ENSMUST00000198783] [ENSMUST00000198866] [ENSMUST00000199054]
Predicted Effect probably benign
Transcript: ENSMUST00000031725
SMART Domains Protein: ENSMUSP00000031725
Gene: ENSMUSG00000029712

DomainStartEndE-ValueType
ACTIN 11 379 4.16e-116 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000031729
AA Change: V120I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031729
Gene: ENSMUSG00000029716
AA Change: V120I

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 benign
Transcript: ENSMUST00000139395
SMART Domains Protein: ENSMUSP00000119356
Gene: ENSMUSG00000029712

DomainStartEndE-ValueType
ACTIN 11 426 5.96e-167 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000196471
AA Change: V120I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142814
Gene: ENSMUSG00000029716
AA Change: V120I

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 benign
Transcript: ENSMUST00000198783
AA Change: V120I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142502
Gene: ENSMUSG00000029716
AA Change: V120I

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 benign
Transcript: ENSMUST00000198866
AA Change: V120I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142720
Gene: ENSMUSG00000029716
AA Change: V120I

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 benign
Transcript: ENSMUST00000199054
AA Change: V120I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142478
Gene: ENSMUSG00000029716
AA Change: V120I

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430573F11Rik A G 8: 36,512,559 I439V probably benign Het
Abca12 T A 1: 71,286,489 I1517L possibly damaging Het
Akap12 A T 10: 4,357,537 D1449V probably benign Het
Alg6 T A 4: 99,742,406 Y161N probably benign Het
Arhgap45 A T 10: 80,028,648 probably benign Het
Arhgap5 A T 12: 52,518,240 I665F probably damaging Het
Bbs4 A G 9: 59,339,848 V123A possibly damaging Het
Carm1 C T 9: 21,587,302 T480I probably benign Het
Catsperb G A 12: 101,625,254 V1032M probably damaging Het
Cdc42bpb A C 12: 111,342,075 I101S probably damaging Het
Copa C A 1: 172,087,588 probably null Het
Cramp1l T C 17: 24,997,573 I189V probably damaging Het
Dhx33 G A 11: 70,993,861 Q40* probably null Het
Egf A T 3: 129,740,020 F57Y probably damaging Het
Flt4 T C 11: 49,643,506 I1168T probably benign Het
Gm12794 A T 4: 101,940,468 D21V possibly damaging Het
Gm14178 A G 11: 99,747,443 S37P unknown Het
Gpbp1 A T 13: 111,426,541 probably benign Het
Herc1 T C 9: 66,483,699 S3980P probably benign Het
Itga6 T C 2: 71,787,326 probably null Het
Itgb4 T C 11: 115,990,940 S772P probably damaging Het
Kcng4 C A 8: 119,625,677 G498V probably benign Het
Lrp1 T G 10: 127,545,820 D3795A possibly damaging Het
Lrrk2 T A 15: 91,700,569 probably null Het
Mettl25 A T 10: 105,823,197 H408Q probably damaging Het
Mki67 T C 7: 135,705,776 E457G probably damaging Het
Mpl G A 4: 118,455,661 T158I possibly damaging Het
Mtg2 C T 2: 180,084,077 T160I probably damaging Het
Mtif2 A G 11: 29,530,110 I59V probably benign Het
Ncapg C A 5: 45,674,385 S191* probably null Het
Nup214 T C 2: 32,038,178 probably benign Het
Olfr1154 T C 2: 87,903,527 T50A probably benign Het
Phf3 T A 1: 30,808,728 T1245S probably damaging Het
Piezo2 T C 18: 63,117,699 D443G probably damaging Het
Ptchd4 C A 17: 42,317,045 H132Q probably benign Het
Pum1 T C 4: 130,728,170 probably benign Het
Slc30a7 A T 3: 115,990,116 V136E probably damaging Het
Slc5a10 A G 11: 61,715,136 V116A probably damaging Het
Sos2 A T 12: 69,590,800 S1046T probably benign Het
Svep1 A G 4: 58,116,554 S899P possibly damaging Het
Tnfrsf18 A T 4: 156,028,036 R117* probably null Het
Vmn1r77 T G 7: 12,041,388 F30L probably benign Het
Vmn2r112 T C 17: 22,618,622 M688T probably benign Het
Vmn2r93 T A 17: 18,305,248 D389E possibly damaging Het
Zpld1 T G 16: 55,226,385 N407T probably benign Het
Zranb3 C T 1: 127,959,885 W935* probably null Het
Zyx G A 6: 42,350,444 R59Q probably damaging Het
Other mutations in Tfr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Tfr2 APN 5 137574455 missense probably null
IGL00960:Tfr2 APN 5 137571692 missense probably benign 0.00
IGL02967:Tfr2 APN 5 137582819 nonsense probably null
IGL02996:Tfr2 APN 5 137583466 missense probably benign
IGL03278:Tfr2 APN 5 137571036 nonsense probably null
iron-man UTSW 5 137583153 splice site probably benign
R0114:Tfr2 UTSW 5 137577465 missense probably benign 0.00
R1384:Tfr2 UTSW 5 137586820 splice site probably benign
R1525:Tfr2 UTSW 5 137579030 missense probably benign 0.00
R1545:Tfr2 UTSW 5 137583299 missense probably benign 0.03
R1765:Tfr2 UTSW 5 137583445 missense probably damaging 0.98
R1908:Tfr2 UTSW 5 137571692 missense probably benign 0.00
R1943:Tfr2 UTSW 5 137578921 missense probably benign
R3439:Tfr2 UTSW 5 137574651 missense probably benign 0.03
R4332:Tfr2 UTSW 5 137571734 missense probably damaging 1.00
R4626:Tfr2 UTSW 5 137571692 missense probably benign 0.00
R4915:Tfr2 UTSW 5 137583411 missense probably damaging 0.96
R4999:Tfr2 UTSW 5 137586925 missense probably benign 0.00
R5150:Tfr2 UTSW 5 137574490 missense probably benign 0.22
R5200:Tfr2 UTSW 5 137570980 splice site probably benign
R5936:Tfr2 UTSW 5 137587006 missense probably benign 0.00
R6165:Tfr2 UTSW 5 137580257 missense probably damaging 0.97
R6513:Tfr2 UTSW 5 137574531 splice site probably null
R7076:Tfr2 UTSW 5 137583574 missense probably damaging 1.00
R7115:Tfr2 UTSW 5 137571715 missense probably benign
R7524:Tfr2 UTSW 5 137571489 nonsense probably null
R7524:Tfr2 UTSW 5 137583489 missense probably benign 0.12
R7799:Tfr2 UTSW 5 137571724 missense possibly damaging 0.69
X0067:Tfr2 UTSW 5 137577548 missense probably benign 0.01
Z1176:Tfr2 UTSW 5 137571737 missense probably damaging 1.00
Posted On2013-10-07