Incidental Mutation 'R6165:Tfr2'
| ID |
490086 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tfr2
|
| Ensembl Gene |
ENSMUSG00000029716 |
| Gene Name |
transferrin receptor 2 |
| Synonyms |
Trfr2, Tfr2 |
| MMRRC Submission |
044311-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6165 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
137568102-137585743 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 137578519 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 449
(V449D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031729]
[ENSMUST00000196471]
[ENSMUST00000198783]
[ENSMUST00000198866]
[ENSMUST00000199054]
|
| AlphaFold |
Q9JKX3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031729
AA Change: V449D
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031729
Gene: ENSMUSG00000029716
AA Change: V449D
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
unknown
Transcript: ENSMUST00000196375
AA Change: V80D
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196450
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196471
AA Change: V449D
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142814
Gene: ENSMUSG00000029716
AA Change: V449D
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000198783
AA Change: V449D
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142502
Gene: ENSMUSG00000029716
AA Change: V449D
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000198866
AA Change: V449D
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142720
Gene: ENSMUSG00000029716
AA Change: V449D
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000199054
AA Change: V449D
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142478
Gene: ENSMUSG00000029716
AA Change: V449D
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000199069
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.1%
|
| Validation Efficiency |
98% (47/48) |
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd35 |
A |
G |
3: 96,590,623 (GRCm39) |
E303G |
possibly damaging |
Het |
| Atosa |
A |
G |
9: 74,932,954 (GRCm39) |
T974A |
probably damaging |
Het |
| C2cd5 |
T |
C |
6: 142,995,954 (GRCm39) |
T389A |
possibly damaging |
Het |
| Catsperb |
T |
A |
12: 101,542,075 (GRCm39) |
Y592N |
possibly damaging |
Het |
| Cfap91 |
A |
G |
16: 38,154,173 (GRCm39) |
F124S |
possibly damaging |
Het |
| Cnot9 |
T |
C |
1: 74,567,952 (GRCm39) |
V280A |
probably benign |
Het |
| Cyld |
A |
G |
8: 89,473,561 (GRCm39) |
I927V |
possibly damaging |
Het |
| Etfdh |
A |
T |
3: 79,512,251 (GRCm39) |
S490T |
probably benign |
Het |
| Fance |
C |
T |
17: 28,545,068 (GRCm39) |
R150C |
probably benign |
Het |
| Far1 |
A |
G |
7: 113,153,425 (GRCm39) |
K353E |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,174,283 (GRCm39) |
I1858V |
probably damaging |
Het |
| Frem1 |
T |
C |
4: 82,874,492 (GRCm39) |
K1359E |
probably benign |
Het |
| Ghdc |
T |
G |
11: 100,659,928 (GRCm39) |
E273A |
possibly damaging |
Het |
| Gpt |
A |
G |
15: 76,582,170 (GRCm39) |
D209G |
probably benign |
Het |
| Hspb7 |
T |
C |
4: 141,149,862 (GRCm39) |
F83L |
probably benign |
Het |
| Itga7 |
A |
G |
10: 128,778,804 (GRCm39) |
I306M |
probably benign |
Het |
| Itgb5 |
A |
G |
16: 33,719,612 (GRCm39) |
E261G |
probably benign |
Het |
| Kcnj14 |
G |
T |
7: 45,469,424 (GRCm39) |
A27E |
possibly damaging |
Het |
| Kif13b |
A |
G |
14: 64,979,760 (GRCm39) |
H470R |
probably damaging |
Het |
| Macroh2a1 |
A |
T |
13: 56,252,268 (GRCm39) |
N108K |
probably damaging |
Het |
| Morc3 |
T |
C |
16: 93,638,271 (GRCm39) |
F18L |
probably damaging |
Het |
| Mrgprb8 |
T |
A |
7: 48,038,565 (GRCm39) |
C79S |
possibly damaging |
Het |
| Mroh2b |
T |
A |
15: 4,947,832 (GRCm39) |
M549K |
probably benign |
Het |
| Msl1 |
T |
C |
11: 98,695,673 (GRCm39) |
V563A |
probably damaging |
Het |
| Nwd1 |
C |
T |
8: 73,388,814 (GRCm39) |
R81W |
probably damaging |
Het |
| Or5b124 |
A |
T |
19: 13,610,507 (GRCm39) |
I11F |
possibly damaging |
Het |
| Or5b124 |
C |
T |
19: 13,610,952 (GRCm39) |
A159V |
probably benign |
Het |
| Phf2 |
C |
A |
13: 48,967,341 (GRCm39) |
|
probably null |
Het |
| Pjvk |
T |
G |
2: 76,480,562 (GRCm39) |
|
probably null |
Het |
| Rgl2 |
A |
G |
17: 34,150,739 (GRCm39) |
T66A |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Rtkn |
G |
T |
6: 83,122,944 (GRCm39) |
E67D |
probably damaging |
Het |
| Serpinb9 |
T |
A |
13: 33,192,807 (GRCm39) |
F121L |
possibly damaging |
Het |
| Slc34a1 |
G |
A |
13: 23,999,053 (GRCm39) |
V149I |
probably benign |
Het |
| Sobp |
A |
G |
10: 42,898,599 (GRCm39) |
S329P |
probably damaging |
Het |
| Syne1 |
A |
T |
10: 5,375,678 (GRCm39) |
L138Q |
probably damaging |
Het |
| Tmem151b |
T |
C |
17: 45,856,711 (GRCm39) |
Y243C |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,220,940 (GRCm39) |
V2559A |
probably benign |
Het |
| Trim35 |
T |
C |
14: 66,546,654 (GRCm39) |
Y474H |
probably damaging |
Het |
| Uso1 |
A |
T |
5: 92,335,126 (GRCm39) |
L495F |
probably damaging |
Het |
| Wdr24 |
A |
G |
17: 26,045,395 (GRCm39) |
I377V |
probably benign |
Het |
| Xpo5 |
T |
A |
17: 46,546,883 (GRCm39) |
V878D |
possibly damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,256,574 (GRCm39) |
I1515V |
probably benign |
Het |
| Zfp319 |
CA |
C |
8: 96,054,733 (GRCm39) |
489 |
probably null |
Het |
| Zfp384 |
T |
G |
6: 125,001,896 (GRCm39) |
|
probably null |
Het |
| Zfp704 |
G |
T |
3: 9,508,946 (GRCm39) |
P416T |
probably benign |
Het |
| Zfr |
C |
T |
15: 12,146,331 (GRCm39) |
A294V |
unknown |
Het |
|
| Other mutations in Tfr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00321:Tfr2
|
APN |
5 |
137,572,717 (GRCm39) |
missense |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGGTCCTTTGACACAGCC -3'
(R):5'- CTAGAAGCATACACTGGATCCTC -3'
Sequencing Primer
(F):5'- CAGCCAAGATTATAGAGCTCTGGTTG -3'
(R):5'- CCAATCAGAGGACTCAGATCCAAGTG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation