Mutagenetix > Incidental Mutation

Incidental Mutation 'R4999:Tfr2'

389719

Institutional Source

Beutler Lab

Gene Symbol

Tfr2

Ensembl Gene

ENSMUSG00000029716

Gene Name

transferrin receptor 2

Synonyms

Trfr2, Tfr2

MMRRC Submission

042593-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4999 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137568102-137585743 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 137585187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 740 (V740I)

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: V740I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000031729
Gene: ENSMUSG00000029716
AA Change: V740I

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

noncoding transcript
Transcript: ENSMUST00000196450

Predicted Effect

probably benign
Transcript: ENSMUST00000196471
AA Change: V740I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000142814
Gene: ENSMUSG00000029716
AA Change: V740I

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: ENSMUST00000198783
AA Change: V740I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000142502
Gene: ENSMUSG00000029716
AA Change: V740I

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: V740I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000142720
Gene: ENSMUSG00000029716
AA Change: V740I

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: V740I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000142478
Gene: ENSMUSG00000029716
AA Change: V740I

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.7%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444P10Rik	A	G	1: 16,139,022 (GRCm39)		probably null	Het
Abca4	T	A	3: 121,899,019 (GRCm39)	V667D	probably damaging	Het
Aco1	A	G	4: 40,176,507 (GRCm39)	I224V	probably damaging	Het
Arel1	C	T	12: 84,978,541 (GRCm39)	V364M	probably damaging	Het
Arhgap42	A	G	9: 9,009,435 (GRCm39)	V484A	probably damaging	Het
Asap2	T	C	12: 21,302,766 (GRCm39)	F681L	probably benign	Het
Atrn	C	A	2: 130,817,874 (GRCm39)	D809E	probably damaging	Het
Ccdc70	G	A	8: 22,463,266 (GRCm39)	V19M	possibly damaging	Het
Ccp110	G	T	7: 118,329,235 (GRCm39)	E73*	probably null	Het
Cfap57	A	C	4: 118,453,045 (GRCm39)	S553A	probably benign	Het
Cftr	A	G	6: 18,221,613 (GRCm39)	K212E	probably benign	Het
Chkb	A	T	15: 89,312,368 (GRCm39)	Y216N	probably damaging	Het
Cntnap2	G	T	6: 45,897,768 (GRCm39)	D149Y	probably damaging	Het
Cpd	A	G	11: 76,737,048 (GRCm39)		probably null	Het
Creb3l1	C	T	2: 91,813,571 (GRCm39)	D489N	probably benign	Het
Crhbp	A	G	13: 95,578,753 (GRCm39)	F123L	probably damaging	Het
Cryab	T	C	9: 50,665,909 (GRCm39)	V100A	possibly damaging	Het
Csmd2	T	C	4: 128,415,723 (GRCm39)	I2684T	probably benign	Het
Ctbp2	G	T	7: 132,616,378 (GRCm39)	P186T	possibly damaging	Het
Ctnna2	T	C	6: 76,892,745 (GRCm39)	N814S	possibly damaging	Het
Dntt	T	C	19: 41,028,295 (GRCm39)	V197A	probably damaging	Het
Fam135a	G	A	1: 24,059,758 (GRCm39)	A1187V	possibly damaging	Het
Filip1l	A	T	16: 57,390,778 (GRCm39)	Q455H	probably benign	Het
Grm2	T	C	9: 106,531,189 (GRCm39)	E100G	probably damaging	Het
Gtf2ird2	G	A	5: 134,246,306 (GRCm39)	V855M	probably damaging	Het
Heatr9	A	T	11: 83,409,618 (GRCm39)	I118N	possibly damaging	Het
Htra3	T	C	5: 35,828,469 (GRCm39)	H137R	probably benign	Het
Iars1	A	G	13: 49,863,137 (GRCm39)	S530G	probably damaging	Het
Klhdc4	T	A	8: 122,523,342 (GRCm39)	M510L	probably benign	Het
Lipc	T	C	9: 70,724,013 (GRCm39)	T204A	probably benign	Het
Lrp1	A	G	10: 127,389,648 (GRCm39)	V3129A	probably damaging	Het
Macf1	G	A	4: 123,388,702 (GRCm39)	T1120I	probably benign	Het
Maco1	A	G	4: 134,555,444 (GRCm39)	I343T	probably benign	Het
Map4	T	C	9: 109,867,445 (GRCm39)		probably benign	Het
Mbtps1	A	T	8: 120,260,087 (GRCm39)	V420D	probably damaging	Het
Mta2	G	T	19: 8,927,747 (GRCm39)	D523Y	probably benign	Het
Mtcl2	C	T	2: 156,864,776 (GRCm39)	G1144D	probably benign	Het
Muc4	A	G	16: 32,576,670 (GRCm39)		probably benign	Het
Mug1	C	T	6: 121,855,902 (GRCm39)	Q965*	probably null	Het
Myo1e	T	A	9: 70,260,594 (GRCm39)	I584N	probably damaging	Het
Nolc1	T	C	19: 46,067,359 (GRCm39)	V80A	probably damaging	Het
Nop56	G	T	2: 130,117,645 (GRCm39)	V91L	probably benign	Het
Or5b99	A	T	19: 12,976,583 (GRCm39)	M78L	probably benign	Het
Or5h23	A	T	16: 58,906,765 (GRCm39)	L27Q	probably damaging	Het
Or6f2	T	C	7: 139,756,933 (GRCm39)	V300A	probably damaging	Het
Osbpl3	T	C	6: 50,313,277 (GRCm39)	E107G	probably damaging	Het
Pde3a	T	A	6: 141,195,751 (GRCm39)	C146S	probably benign	Het
Pfkm	A	G	15: 98,026,123 (GRCm39)	M573V	probably damaging	Het
Pkd1l2	C	T	8: 117,774,113 (GRCm39)		probably null	Het
Plekhg3	T	C	12: 76,612,021 (GRCm39)	I374T	possibly damaging	Het
Ppig	T	A	2: 69,571,830 (GRCm39)	V183D	unknown	Het
Prom1	T	G	5: 44,194,876 (GRCm39)	I290L	probably benign	Het
Rufy3	T	A	5: 88,785,085 (GRCm39)	M387K	probably damaging	Het
Selenoo	G	A	15: 88,978,387 (GRCm39)	R270H	probably damaging	Het
Sema3d	T	A	5: 12,558,054 (GRCm39)		probably null	Het
Sema6c	C	T	3: 95,075,674 (GRCm39)	T175I	probably damaging	Het
Serpina3k	T	C	12: 104,307,305 (GRCm39)	I179T	probably damaging	Het
Sf3b3	T	C	8: 111,567,835 (GRCm39)	T207A	probably benign	Het
Slc22a26	C	A	19: 7,779,546 (GRCm39)	R90L	probably damaging	Het
Slitrk5	T	C	14: 111,917,648 (GRCm39)	V424A	probably damaging	Het
Smarca2	G	T	19: 26,698,255 (GRCm39)	E89*	probably null	Het
Stab2	T	A	10: 86,773,773 (GRCm39)	S853C	probably damaging	Het
Stk17b	A	T	1: 53,800,306 (GRCm39)		probably null	Het
Taar5	T	A	10: 23,847,445 (GRCm39)	I281N	possibly damaging	Het
Tars3	A	T	7: 65,308,683 (GRCm39)	E284D	probably damaging	Het
Tbx15	C	A	3: 99,223,649 (GRCm39)	T279K	probably damaging	Het
Tlr12	T	C	4: 128,511,473 (GRCm39)	E259G	probably benign	Het
Tmem145	A	G	7: 25,008,459 (GRCm39)	T302A	probably benign	Het
Trappc14	T	A	5: 138,259,884 (GRCm39)	T391S	probably damaging	Het
Trpa1	G	T	1: 14,946,085 (GRCm39)	H1015Q	probably benign	Het
Tspan8	A	G	10: 115,653,534 (GRCm39)	Y10C	possibly damaging	Het
Ttll7	A	G	3: 146,600,224 (GRCm39)	N44S	probably damaging	Het
Uba7	T	C	9: 107,857,038 (GRCm39)		probably null	Het
Ube2j2	G	A	4: 156,030,841 (GRCm39)	M1I	probably null	Het
Ubr5	C	A	15: 38,009,912 (GRCm39)	A1022S	probably benign	Het
Usf1	T	G	1: 171,243,331 (GRCm39)	I36S	probably damaging	Het
Vmn1r181	A	T	7: 23,683,790 (GRCm39)	D85V	probably damaging	Het
Vmn1r3	A	T	4: 3,185,009 (GRCm39)	Y99*	probably null	Het
Vmn1r72	T	C	7: 11,404,300 (GRCm39)	I49M	possibly damaging	Het
Vmn2r99	A	G	17: 19,582,397 (GRCm39)	M1V	probably null	Het
Vsig10	T	A	5: 117,482,040 (GRCm39)	V410E	probably damaging	Het
Zc3h7b	A	G	15: 81,663,334 (GRCm39)	Y442C	probably damaging	Het
Zfyve26	G	T	12: 79,327,159 (GRCm39)	Y730*	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
R4915:Tfr2	UTSW	5	137,581,673 (GRCm39)	missense	probably damaging	0.96
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'- GAAGCTGTGGAACCCTATTTGTG -3'
(R):5'- TGTCAATGTTCCAAACGTCGC -3'

Sequencing Primer
(F):5'- ACCCTATTTGTGAAGCAGGC -3'
(R):5'- ATGTTCCAAACGTCGCCACTG -3'

Posted On

2016-06-06