Mutagenetix > Incidental Mutation

Incidental Mutation 'R4915:Tfr2'

379922

Institutional Source

Beutler Lab

Gene Symbol

Tfr2

Ensembl Gene

ENSMUSG00000029716

Gene Name

transferrin receptor 2

Synonyms

Trfr2, Tfr2

MMRRC Submission

042517-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4915 (G1)

Quality Score

210

Status

Validated

Chromosome

Chromosomal Location

137568102-137585743 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 137581673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 587 (R587W)

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: R587W

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000031729
Gene: ENSMUSG00000029716
AA Change: R587W

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

noncoding transcript
Transcript: ENSMUST00000196450

Predicted Effect

probably damaging
Transcript: ENSMUST00000196471
AA Change: R587W

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142814
Gene: ENSMUSG00000029716
AA Change: R587W

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: ENSMUST00000198783
AA Change: R587W

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142502
Gene: ENSMUSG00000029716
AA Change: R587W

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: R587W

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142720
Gene: ENSMUSG00000029716
AA Change: R587W

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: R587W

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142478
Gene: ENSMUSG00000029716
AA Change: R587W

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: 98.9%
3x: 98.0%
10x: 95.1%
20x: 87.9%

Validation Efficiency

98% (162/166)

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: 135 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	T	12: 71,236,420 (GRCm39)	A1257V	possibly damaging	Het
Aldh8a1	T	C	10: 21,271,662 (GRCm39)	S463P	probably damaging	Het
Angptl1	T	G	1: 156,672,388 (GRCm39)	D71E	probably benign	Het
Ank2	T	A	3: 126,736,320 (GRCm39)		probably benign	Het
Ano1	A	G	7: 144,165,112 (GRCm39)	S649P	possibly damaging	Het
Arhgef40	A	G	14: 52,227,556 (GRCm39)	E434G	probably damaging	Het
Asb15	A	T	6: 24,566,292 (GRCm39)	D415V	probably damaging	Het
Baz2b	T	A	2: 59,744,387 (GRCm39)	T1373S	possibly damaging	Het
Bcas1	T	C	2: 170,220,806 (GRCm39)	D324G	probably damaging	Het
Bfsp1	C	T	2: 143,669,391 (GRCm39)	R396Q	probably benign	Het
Bmi1	G	A	2: 18,687,143 (GRCm39)		probably benign	Het
Bpifb9b	T	A	2: 154,156,026 (GRCm39)		probably null	Het
Brd9	A	G	13: 74,086,574 (GRCm39)	E25G	probably damaging	Het
Btbd7	A	T	12: 102,804,046 (GRCm39)	C331*	probably null	Het
Ccdc198	A	T	14: 49,470,351 (GRCm39)	N189K	probably benign	Het
Cdh26	T	C	2: 178,091,614 (GRCm39)	S58P	probably benign	Het
Cenpj	T	C	14: 56,791,175 (GRCm39)	D328G	probably damaging	Het
Cherp	T	C	8: 73,222,241 (GRCm39)	D255G	probably damaging	Het
Clec5a	T	A	6: 40,562,165 (GRCm39)		probably benign	Het
Cntnap2	T	C	6: 46,506,969 (GRCm39)		probably benign	Het
Col7a1	G	A	9: 108,795,532 (GRCm39)	G1529E	unknown	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp2a22	C	A	7: 26,637,195 (GRCm39)	E196D	probably benign	Het
Cyp4f18	T	A	8: 72,762,898 (GRCm39)	H63L	probably damaging	Het
Dclk2	A	T	3: 86,732,049 (GRCm39)		probably null	Het
Ddx6	T	A	9: 44,524,170 (GRCm39)	D82E	probably damaging	Het
Defb42	A	G	14: 63,285,790 (GRCm39)	I57V	probably benign	Het
Dennd5a	A	G	7: 109,500,296 (GRCm39)	F943S	probably damaging	Het
Dip2c	T	A	13: 9,671,905 (GRCm39)		probably null	Het
Disp2	A	T	2: 118,620,935 (GRCm39)	S556C	probably damaging	Het
Dnah12	A	T	14: 26,455,725 (GRCm39)	D816V	probably damaging	Het
Dpy19l3	T	C	7: 35,452,167 (GRCm39)		probably benign	Het
Efcab11	T	C	12: 99,685,321 (GRCm39)	D151G	probably damaging	Het
Ehbp1	T	C	11: 22,096,592 (GRCm39)	D299G	probably benign	Het
Evl	G	T	12: 108,652,365 (GRCm39)	R359L	probably damaging	Het
Fasn	T	G	11: 120,707,472 (GRCm39)	N799T	probably benign	Het
Fbxo3	T	G	2: 103,885,311 (GRCm39)	N388K	probably damaging	Het
Fbxw14	A	T	9: 109,103,592 (GRCm39)	F40Y	possibly damaging	Het
Fbxw22	A	G	9: 109,213,009 (GRCm39)	F313L	probably damaging	Het
Fer1l4	T	C	2: 155,873,220 (GRCm39)	K1287E	probably benign	Het
Fn1	A	T	1: 71,634,968 (GRCm39)		probably null	Het
Fry	A	T	5: 150,402,328 (GRCm39)	T790S	probably benign	Het
Fut8	G	T	12: 77,521,818 (GRCm39)	A486S	probably damaging	Het
Gfra1	A	T	19: 58,255,522 (GRCm39)	S308R	probably damaging	Het
Gm13030	T	A	4: 138,601,239 (GRCm39)		probably benign	Het
Gm37150	C	T	9: 72,292,772 (GRCm39)		noncoding transcript	Het
Gm6788	C	T	19: 28,740,664 (GRCm39)		noncoding transcript	Het
Gm8122	T	C	14: 43,091,573 (GRCm39)	N65S	unknown	Het
Gnb4	C	T	3: 32,639,236 (GRCm39)		probably benign	Het
Gprin1	G	T	13: 54,885,886 (GRCm39)	P796Q	probably damaging	Het
Grin1	A	G	2: 25,188,565 (GRCm39)		probably benign	Het
Helz2	T	C	2: 180,874,231 (GRCm39)	R2088G	possibly damaging	Het
Hsd3b9	C	T	3: 98,357,845 (GRCm39)	V56M	probably damaging	Het
Ighv6-6	C	A	12: 114,398,595 (GRCm39)	R57L	probably damaging	Het
Inhca	A	C	9: 103,129,054 (GRCm39)	Y235*	probably null	Het
Inpp5f	A	T	7: 128,286,840 (GRCm39)	D573V	probably damaging	Het
Iqgap3	T	A	3: 88,008,834 (GRCm39)	I643K	possibly damaging	Het
Itga11	C	A	9: 62,659,530 (GRCm39)	Y427*	probably null	Het
Kbtbd8	T	G	6: 95,103,515 (GRCm39)	M388R	possibly damaging	Het
Kif1a	T	A	1: 93,002,700 (GRCm39)	E233V	probably benign	Het
Krt10	T	C	11: 99,278,334 (GRCm39)	N275S	probably damaging	Het
Lrrc3	T	C	10: 77,737,253 (GRCm39)	D61G	probably benign	Het
Mapk8ip3	A	G	17: 25,128,127 (GRCm39)	S377P	possibly damaging	Het
Mccc1	A	G	3: 36,051,703 (GRCm39)	L32S	probably benign	Het
Meis1	T	C	11: 18,959,222 (GRCm39)		probably benign	Het
Mmp11	C	T	10: 75,761,419 (GRCm39)	A31T	probably damaging	Het
Mthfsl	A	C	9: 88,597,550 (GRCm39)	L67V	probably damaging	Het
Myo1c	T	G	11: 75,547,135 (GRCm39)	M1R	probably null	Het
N4bp2	T	A	5: 65,960,847 (GRCm39)	M506K	probably damaging	Het
Nfix	T	C	8: 85,498,458 (GRCm39)	I172V	probably benign	Het
Nid1	A	G	13: 13,674,171 (GRCm39)	E850G	possibly damaging	Het
Nlrp9c	T	C	7: 26,083,885 (GRCm39)	T565A	probably benign	Het
Nomo1	T	C	7: 45,693,656 (GRCm39)	F163L	probably benign	Het
Nsd1	T	C	13: 55,395,681 (GRCm39)	V1197A	possibly damaging	Het
Nsd1	A	G	13: 55,424,341 (GRCm39)	T1463A	probably benign	Het
Nsf	G	A	11: 103,801,185 (GRCm39)		probably benign	Het
Or3a1b	A	T	11: 74,012,705 (GRCm39)	I197F	probably benign	Het
Or4k51	A	T	2: 111,584,725 (GRCm39)	I44F	probably benign	Het
Or5an1c	A	G	19: 12,218,737 (GRCm39)	V96A	probably benign	Het
Or5b106	T	A	19: 13,123,355 (GRCm39)	I223L	possibly damaging	Het
Or8k33	A	G	2: 86,384,399 (GRCm39)	L23P	probably damaging	Het
Or9g10	T	C	2: 85,584,465 (GRCm39)		probably benign	Het
Pcdha6	T	A	18: 37,101,510 (GRCm39)	D234E	probably damaging	Het
Pcnx1	C	A	12: 82,021,269 (GRCm39)	F1425L	probably benign	Het
Pdzd9	T	G	7: 120,269,391 (GRCm39)	N10T	possibly damaging	Het
Pex6	A	T	17: 47,024,982 (GRCm39)	H345L	probably damaging	Het
Pfkfb3	G	A	2: 11,495,109 (GRCm39)	Q100*	probably null	Het
Pgm2	G	A	5: 64,258,291 (GRCm39)	G92E	probably damaging	Het
Pip4k2c	T	C	10: 127,035,196 (GRCm39)	T391A	possibly damaging	Het
Plcxd2	C	T	16: 45,800,941 (GRCm39)	W94*	probably null	Het
Ppm1k	T	A	6: 57,487,762 (GRCm39)	N354Y	probably damaging	Het
Prkcg	T	G	7: 3,378,781 (GRCm39)	Y624*	probably null	Het
Rabep2	T	C	7: 126,044,094 (GRCm39)	S517P	probably damaging	Het
Rabgap1l	A	G	1: 160,269,412 (GRCm39)	I717T	probably benign	Het
Rasef	A	G	4: 73,649,696 (GRCm39)	C484R	probably damaging	Het
Rdh19	A	G	10: 127,686,113 (GRCm39)	D75G	probably benign	Het
Rpl21-ps10	T	C	3: 38,161,617 (GRCm39)		noncoding transcript	Het
Rsl1d1	A	T	16: 11,017,593 (GRCm39)		probably null	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Rwdd1	T	C	10: 33,885,074 (GRCm39)	D62G	possibly damaging	Het
Scin	T	A	12: 40,119,373 (GRCm39)	I552F	possibly damaging	Het
Scn3a	T	C	2: 65,291,799 (GRCm39)	N1649S	probably damaging	Het
Slc20a2	C	T	8: 23,051,020 (GRCm39)	S351L	probably damaging	Het
Slc24a1	A	T	9: 64,855,213 (GRCm39)	F565I	unknown	Het
Slc4a1	A	G	11: 102,243,279 (GRCm39)	V784A	probably damaging	Het
Slf2	T	G	19: 44,960,100 (GRCm39)	D1022E	probably damaging	Het
Sox6	T	C	7: 115,076,199 (GRCm39)	D814G	probably damaging	Het
Spata4	T	C	8: 55,055,471 (GRCm39)		probably null	Het
Spats2l	A	T	1: 57,941,347 (GRCm39)	K202M	probably damaging	Het
Speer4b	C	T	5: 27,705,134 (GRCm39)	E80K	probably benign	Het
Sqle	T	G	15: 59,193,218 (GRCm39)	Y198*	probably null	Het
Srek1	T	C	13: 103,889,194 (GRCm39)		probably benign	Het
Srek1	T	C	13: 103,889,071 (GRCm39)		probably benign	Het
St14	G	A	9: 31,019,960 (GRCm39)	R50*	probably null	Het
Tcaf1	A	G	6: 42,652,130 (GRCm39)	V784A	probably damaging	Het
Tmpo	A	G	10: 90,985,411 (GRCm39)	V357A	probably damaging	Het
Trrap	A	T	5: 144,742,545 (GRCm39)	I1101F	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ttpal	G	A	2: 163,449,397 (GRCm39)	R84H	probably damaging	Het
Tyk2	T	C	9: 21,022,433 (GRCm39)	T799A	probably benign	Het
Ugt1a10	A	T	1: 87,983,646 (GRCm39)	D148V	probably damaging	Het
Usp29	C	T	7: 6,964,504 (GRCm39)	P116S	probably benign	Het
Usp8	A	T	2: 126,562,060 (GRCm39)	K85*	probably null	Het
Usp9y	C	T	Y: 1,316,735 (GRCm39)	R1938H	probably damaging	Het
Vmn1r90	T	G	7: 14,295,950 (GRCm39)	R49S	possibly damaging	Het
Vmn2r71	C	A	7: 85,270,476 (GRCm39)	N547K	probably damaging	Het
Vps45	T	C	3: 95,926,943 (GRCm39)	T535A	probably damaging	Het
Yars1	A	T	4: 129,104,384 (GRCm39)		probably benign	Het
Zfp114	T	C	7: 23,877,290 (GRCm39)	L44P	probably damaging	Het
Zfp36l2	A	G	17: 84,493,690 (GRCm39)		probably benign	Het
Zfp512	T	C	5: 31,634,209 (GRCm39)	S407P	probably damaging	Het
Zfp574	C	T	7: 24,780,151 (GRCm39)	P391L	probably damaging	Het
Zfp607a	T	G	7: 27,577,985 (GRCm39)	C352G	probably benign	Het
Zfp791	T	A	8: 85,837,580 (GRCm39)	I95L	probably benign	Het
Zfr	A	C	15: 12,162,198 (GRCm39)		probably null	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
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'- AGAAACTGAGTCCCCAGAGG -3'
(R):5'- CCTGAGAACCACGTCTCCATAG -3'

Sequencing Primer
(F):5'- CAGAGGCCTTCAATCTGCC -3'
(R):5'- TCCATAGCGGCCGAAGTCTAG -3'

Posted On

2016-04-15