Mutagenetix > Incidental Mutation

Incidental Mutation 'R0114:Tfr2'

20638

Institutional Source

Beutler Lab

Gene Symbol

Tfr2

Ensembl Gene

ENSMUSG00000029716

Gene Name

transferrin receptor 2

Synonyms

Trfr2, Tfr2

MMRRC Submission

038400-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0114 (G1)

Quality Score

173

Status

Validated (trace)

Chromosome

Chromosomal Location

137568102-137585743 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137575727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 281 (V281A)

Ref Sequence

ENSEMBL: ENSMUSP00000142478 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031729] [ENSMUST00000196471] [ENSMUST00000198783] [ENSMUST00000198866] [ENSMUST00000199054]

AlphaFold

Q9JKX3

Predicted Effect

probably benign
Transcript: ENSMUST00000031729
AA Change: V281A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000031729
Gene: ENSMUSG00000029716
AA Change: V281A

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

probably benign
Transcript: ENSMUST00000196375

Predicted Effect

probably benign
Transcript: ENSMUST00000196471
AA Change: V281A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000142814
Gene: ENSMUSG00000029716
AA Change: V281A

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 benign
Transcript: ENSMUST00000198783
AA Change: V281A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000142502
Gene: ENSMUSG00000029716
AA Change: V281A

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 benign
Transcript: ENSMUST00000198866
AA Change: V281A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000142720
Gene: ENSMUSG00000029716
AA Change: V281A

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 benign
Transcript: ENSMUST00000199054
AA Change: V281A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000142478
Gene: ENSMUSG00000029716
AA Change: V281A

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: ENSMUST00000199957

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.6%
3x: 97.4%
10x: 93.2%
20x: 79.2%

Validation Efficiency

100% (99/99)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	C	10: 28,861,978 (GRCm39)		probably benign	Het
4933427D14Rik	T	C	11: 72,086,625 (GRCm39)	Y262C	probably damaging	Het
Adamts1	C	A	16: 85,596,502 (GRCm39)	V379L	probably benign	Het
Akt3	T	C	1: 176,894,817 (GRCm39)	D260G	probably damaging	Het
Alms1	T	C	6: 85,596,785 (GRCm39)	L537P	probably benign	Het
Anln	A	T	9: 22,264,642 (GRCm39)	I876N	probably damaging	Het
Ano9	A	T	7: 140,683,152 (GRCm39)		probably benign	Het
Arhgef10l	T	C	4: 140,311,194 (GRCm39)	E218G	probably benign	Het
Arnt2	G	A	7: 83,996,738 (GRCm39)	R63C	probably damaging	Het
Atp9a	G	T	2: 168,552,776 (GRCm39)	Y63*	probably null	Het
Bmpr2	G	T	1: 59,854,499 (GRCm39)	C116F	probably damaging	Het
Cand1	T	C	10: 119,052,427 (GRCm39)	D233G	probably benign	Het
Cftr	A	T	6: 18,282,447 (GRCm39)	H1049L	probably damaging	Het
Ckap5	A	T	2: 91,450,457 (GRCm39)	D1975V	possibly damaging	Het
Cyp26c1	T	C	19: 37,675,081 (GRCm39)	V134A	probably benign	Het
Dnai1	T	C	4: 41,605,686 (GRCm39)		probably benign	Het
Dpp10	T	C	1: 123,413,821 (GRCm39)	I163V	probably benign	Het
Fam151a	A	T	4: 106,591,201 (GRCm39)	I15F	possibly damaging	Het
Fanca	A	T	8: 124,015,230 (GRCm39)		probably null	Het
Fes	A	G	7: 80,027,783 (GRCm39)	V787A	probably damaging	Het
Fnip1	C	T	11: 54,378,627 (GRCm39)		probably benign	Het
Gabpb1	A	G	2: 126,495,494 (GRCm39)	I86T	probably damaging	Het
Gmds	A	T	13: 32,411,264 (GRCm39)	S57T	probably benign	Het
Gnpat	T	G	8: 125,610,096 (GRCm39)	D426E	probably benign	Het
Gnptab	C	A	10: 88,269,262 (GRCm39)	P655Q	possibly damaging	Het
Gpi-ps	A	G	8: 5,690,359 (GRCm39)		noncoding transcript	Het
Herc1	T	A	9: 66,369,128 (GRCm39)	F2941I	probably damaging	Het
Herc2	T	C	7: 55,803,522 (GRCm39)		probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Itga11	T	G	9: 62,642,575 (GRCm39)	V166G	probably damaging	Het
Itga11	T	C	9: 62,667,584 (GRCm39)	V639A	possibly damaging	Het
Itpr2	A	G	6: 146,214,377 (GRCm39)	F1490S	probably damaging	Het
Lama2	C	A	10: 26,869,064 (GRCm39)	E802*	probably null	Het
Lgi3	C	T	14: 70,768,469 (GRCm39)		probably benign	Het
Limch1	C	T	5: 67,193,427 (GRCm39)		probably benign	Het
Lipc	T	C	9: 70,711,063 (GRCm39)	N363S	probably damaging	Het
Lrit2	A	G	14: 36,790,002 (GRCm39)		probably null	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Mug2	A	G	6: 122,017,607 (GRCm39)	Y448C	probably damaging	Het
Mybpc3	A	G	2: 90,954,839 (GRCm39)	E450G	probably damaging	Het
Myo5b	A	T	18: 74,875,242 (GRCm39)	T1549S	probably benign	Het
Naa15	T	C	3: 51,355,859 (GRCm39)		probably null	Het
Nckap1l	T	A	15: 103,363,455 (GRCm39)	C54S	probably benign	Het
Nlrp9b	A	G	7: 19,757,981 (GRCm39)	D406G	probably benign	Het
Nprl3	T	A	11: 32,189,784 (GRCm39)		probably benign	Het
Nvl	A	G	1: 180,947,956 (GRCm39)	V429A	probably benign	Het
Opa1	A	T	16: 29,448,453 (GRCm39)	N912Y	probably benign	Het
Or14j3	A	T	17: 37,900,306 (GRCm39)	*313K	probably null	Het
Or1x2	G	A	11: 50,918,431 (GRCm39)	V201I	probably benign	Het
Or52b4i	A	T	7: 102,191,938 (GRCm39)	Q265L	probably benign	Het
Or6c211	T	A	10: 129,505,467 (GRCm39)	Y307F	probably benign	Het
Pcnx1	T	C	12: 82,042,869 (GRCm39)	V2317A	possibly damaging	Het
Phf3	A	T	1: 30,844,524 (GRCm39)	N1478K	possibly damaging	Het
Phykpl	G	A	11: 51,477,480 (GRCm39)	D91N	probably benign	Het
Polr2b	T	A	5: 77,491,110 (GRCm39)	C984S	probably damaging	Het
Ppfibp1	A	G	6: 146,899,731 (GRCm39)	R141G	probably benign	Het
Ppm1d	G	A	11: 85,217,731 (GRCm39)	G20R	probably damaging	Het
Ppp1r16a	C	T	15: 76,574,999 (GRCm39)		probably benign	Het
Ppp2r5b	C	A	19: 6,278,461 (GRCm39)	V483F	probably benign	Het
Ppp4r4	T	A	12: 103,542,633 (GRCm39)	C132S	probably benign	Het
Prg2	A	G	2: 84,813,800 (GRCm39)		probably benign	Het
Prpf4b	G	A	13: 35,074,471 (GRCm39)		probably benign	Het
Rad54l2	T	C	9: 106,590,654 (GRCm39)	T491A	probably damaging	Het
Rnf213	G	T	11: 119,305,413 (GRCm39)	W548L	probably damaging	Het
Rusc2	G	T	4: 43,422,055 (GRCm39)	C825F	probably damaging	Het
Sema4b	A	G	7: 79,868,826 (GRCm39)		probably benign	Het
Sema6a	A	G	18: 47,423,244 (GRCm39)	V254A	probably damaging	Het
Slc13a3	A	G	2: 165,266,501 (GRCm39)	F346L	probably damaging	Het
Slc25a17	T	C	15: 81,222,160 (GRCm39)	D104G	probably damaging	Het
Specc1	A	T	11: 62,037,139 (GRCm39)	N707Y	possibly damaging	Het
Tex48	T	A	4: 63,526,696 (GRCm39)	E76V	probably damaging	Het
Tgfb1i1	A	C	7: 127,848,666 (GRCm39)	Q238H	probably damaging	Het
Thoc6	G	A	17: 23,889,213 (GRCm39)	T122I	probably benign	Het
Tmtc1	G	A	6: 148,314,328 (GRCm39)		probably benign	Het
Tnfrsf8	T	C	4: 145,014,617 (GRCm39)	D264G	possibly damaging	Het
Trim43a	T	A	9: 88,466,213 (GRCm39)	I178N	probably damaging	Het
Ttn	G	C	2: 76,537,437 (GRCm39)	I26503M	possibly damaging	Het
Usp28	C	A	9: 48,950,323 (GRCm39)	D589E	probably benign	Het
Utp23	T	C	15: 51,745,907 (GRCm39)	S242P	probably damaging	Het
Vwa3a	A	G	7: 120,374,603 (GRCm39)	Y305C	probably benign	Het
Vwa5b1	C	A	4: 138,336,169 (GRCm39)	E142*	probably null	Het
Xrn2	A	T	2: 146,871,699 (GRCm39)	T374S	probably damaging	Het
Zfp735	A	T	11: 73,601,488 (GRCm39)	Q144L	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TTCGAAGTGCTCCAGAGGCACCAT -3'
(R):5'- CCGCCAGGTTACCTGAGCAATTGA -3'

Sequencing Primer
(F):5'- CATGGGAGGACTGTAATGCTG -3'
(R):5'- TGATCAGCAATGTCAGCACTG -3'

Posted On

2013-04-11