Mutagenetix > Incidental Mutation

Incidental Mutation 'R7524:Tfr2'

582837

Institutional Source

Beutler Lab

Gene Symbol

Tfr2

Ensembl Gene

ENSMUSG00000029716

Gene Name

transferrin receptor 2

Synonyms

Trfr2, Tfr2

MMRRC Submission

045596-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7524 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137568102-137585743 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 137569751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 82 (Y82*)

Ref Sequence

ENSEMBL: ENSMUSP00000031729 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031725] [ENSMUST00000031729] [ENSMUST00000139395] [ENSMUST00000196471] [ENSMUST00000198601] [ENSMUST00000198783] [ENSMUST00000198866] [ENSMUST00000199054]

AlphaFold

Q9JKX3

Predicted Effect

probably benign
Transcript: ENSMUST00000031725

SMART Domains

Protein: ENSMUSP00000031725
Gene: ENSMUSG00000029712

Domain	Start	End	E-Value	Type
ACTIN	11	379	4.16e-116	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000031729
AA Change: Y82*

SMART Domains

Protein: ENSMUSP00000031729
Gene: ENSMUSG00000029716
AA Change: Y82*

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: ENSMUST00000139395

SMART Domains

Protein: ENSMUSP00000119356
Gene: ENSMUSG00000029712

Domain	Start	End	E-Value	Type
ACTIN	11	426	5.96e-167	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000196471
AA Change: Y82*

SMART Domains

Protein: ENSMUSP00000142814
Gene: ENSMUSG00000029716
AA Change: Y82*

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: ENSMUST00000198601

Predicted Effect

probably null
Transcript: ENSMUST00000198783
AA Change: Y82*

SMART Domains

Protein: ENSMUSP00000142502
Gene: ENSMUSG00000029716
AA Change: Y82*

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 null
Transcript: ENSMUST00000198866
AA Change: Y82*

SMART Domains

Protein: ENSMUSP00000142720
Gene: ENSMUSG00000029716
AA Change: Y82*

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 null
Transcript: ENSMUST00000199054
AA Change: Y82*

SMART Domains

Protein: ENSMUSP00000142478
Gene: ENSMUSG00000029716
AA Change: Y82*

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (79/79)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	C	T	8: 56,325,395 (GRCm39)	C353Y	probably damaging	Het
Afap1l2	T	A	19: 56,906,543 (GRCm39)	E452V	probably damaging	Het
Ak6	A	G	13: 100,800,415 (GRCm39)	D45G	probably benign	Het
Arhgap17	G	A	7: 122,905,643 (GRCm39)	P334L	probably damaging	Het
Asns	G	T	6: 7,677,259 (GRCm39)		probably null	Het
Bend7	A	G	2: 4,804,791 (GRCm39)	T424A	probably benign	Het
Btbd2	C	T	10: 80,482,278 (GRCm39)	E241K	probably damaging	Het
Commd2	A	C	3: 57,557,569 (GRCm39)	L99W	probably damaging	Het
Cpne9	A	T	6: 113,279,025 (GRCm39)	D473V	probably damaging	Het
Cuzd1	A	T	7: 130,913,347 (GRCm39)	F423L	probably damaging	Het
Cyp2d9	T	C	15: 82,340,146 (GRCm39)	F390L	probably damaging	Het
Dcaf5	T	A	12: 80,423,470 (GRCm39)	Q234L	probably benign	Het
Dennd3	T	G	15: 73,396,095 (GRCm39)	Y201*	probably null	Het
Dnah17	T	C	11: 118,012,307 (GRCm39)	D485G	probably benign	Het
Dnah5	A	T	15: 28,297,212 (GRCm39)	T1469S	possibly damaging	Het
Dnah6	T	C	6: 73,095,082 (GRCm39)	D2167G	probably damaging	Het
Dst	T	C	1: 34,330,974 (GRCm39)	V4921A	possibly damaging	Het
Ephb2	A	G	4: 136,387,020 (GRCm39)	Y736H	probably damaging	Het
Eri2	C	G	7: 119,384,972 (GRCm39)	V510L	probably benign	Het
Eya2	G	A	2: 165,611,246 (GRCm39)		probably null	Het
Fastkd5	G	T	2: 130,458,048 (GRCm39)	Q181K	probably benign	Het
Fcgbp	T	C	7: 27,802,391 (GRCm39)	S1440P	probably damaging	Het
Fkbp9	G	A	6: 56,845,725 (GRCm39)	V354M	probably damaging	Het
Frmpd1	T	A	4: 45,271,181 (GRCm39)	S304T	probably benign	Het
Gtf2a2	T	A	9: 69,922,629 (GRCm39)	Y3*	probably null	Het
Hagh	G	A	17: 25,080,314 (GRCm39)	V226I	probably benign	Het
Hemk1	T	A	9: 107,205,484 (GRCm39)	I293F	probably benign	Het
Kcna3	A	G	3: 106,944,523 (GRCm39)	E262G	probably damaging	Het
Kcnt2	A	T	1: 140,511,793 (GRCm39)	T983S	probably damaging	Het
Klhdc3	A	T	17: 46,989,340 (GRCm39)	H7Q	probably damaging	Het
Knl1	A	T	2: 118,896,460 (GRCm39)	Q94L	probably damaging	Het
Krt12	T	C	11: 99,310,485 (GRCm39)	D224G	probably damaging	Het
Lats1	T	A	10: 7,577,742 (GRCm39)	S289T	possibly damaging	Het
Man2a2	G	C	7: 80,018,613 (GRCm39)	A82G	probably benign	Het
Map1a	G	A	2: 121,120,293 (GRCm39)	V60M	probably damaging	Het
Mms22l	T	A	4: 24,536,138 (GRCm39)	F536I	possibly damaging	Het
Ms4a14	T	C	19: 11,281,200 (GRCm39)	T453A	unknown	Het
Muc3a	A	C	5: 137,245,020 (GRCm39)	I151S	probably benign	Het
Myorg	C	A	4: 41,498,779 (GRCm39)	V284L	probably benign	Het
Oaf	G	A	9: 43,134,077 (GRCm39)	R215C	probably damaging	Het
Or4c112	T	A	2: 88,854,315 (GRCm39)	I11L	probably benign	Het
Or4c125	A	G	2: 89,170,221 (GRCm39)	C142R	probably benign	Het
Or4e5	T	C	14: 52,727,750 (GRCm39)	I224V	probably damaging	Het
Or5ar1	T	A	2: 85,671,701 (GRCm39)	M145L	probably benign	Het
Or6z7	T	C	7: 6,483,586 (GRCm39)	N190D	probably benign	Het
Or7a42	T	A	10: 78,791,325 (GRCm39)	Y95*	probably null	Het
Pcdhgb4	A	T	18: 37,854,661 (GRCm39)	D352V	probably benign	Het
Pced1a	A	G	2: 130,263,948 (GRCm39)	F235L	probably benign	Het
Pclo	A	G	5: 14,728,317 (GRCm39)	I2392V	unknown	Het
Pld1	A	T	3: 28,078,470 (GRCm39)	D43V	possibly damaging	Het
Ppp1r1b	C	A	11: 98,241,720 (GRCm39)	A51D	possibly damaging	Het
Prr23a1	T	A	9: 98,724,917 (GRCm39)	L93H	probably damaging	Het
Psg20	T	C	7: 18,418,584 (GRCm39)	D61G	probably benign	Het
Rab40b	T	A	11: 121,278,878 (GRCm39)	I31F	probably damaging	Het
Rasd2	T	C	8: 75,948,709 (GRCm39)	F212L	probably benign	Het
Rbl2	A	G	8: 91,841,821 (GRCm39)	I1006V	probably benign	Het
Sema6c	A	G	3: 95,074,371 (GRCm39)	E59G	probably benign	Het
Slc22a2	G	T	17: 12,824,944 (GRCm39)	V269L	possibly damaging	Het
Slc2a1	C	T	4: 118,989,809 (GRCm39)	P149S	probably damaging	Het
Smad4	T	G	18: 73,808,942 (GRCm39)	E108D	probably damaging	Het
Sorbs2	T	A	8: 46,248,693 (GRCm39)	I648K	probably benign	Het
Suclg1	A	T	6: 73,240,824 (GRCm39)	I118F	probably damaging	Het
Tasor	T	A	14: 27,188,160 (GRCm39)	C869S	probably damaging	Het
Tet2	A	G	3: 133,185,990 (GRCm39)	I1149T	probably benign	Het
Tg	A	T	15: 66,568,010 (GRCm39)	M1305L	probably benign	Het
Tmem176a	A	T	6: 48,821,039 (GRCm39)	M170L	probably benign	Het
Trim71	T	C	9: 114,342,230 (GRCm39)	N684S	probably benign	Het
Tspan9	A	G	6: 127,942,214 (GRCm39)	I212T	probably benign	Het
Ttn	A	G	2: 76,773,319 (GRCm39)	V2361A	possibly damaging	Het
Uqcrc1	C	T	9: 108,765,827 (GRCm39)	T14M	possibly damaging	Het
Vmn2r11	T	C	5: 109,201,848 (GRCm39)	I219V	probably benign	Het
Vmn2r76	T	C	7: 85,874,577 (GRCm39)	H800R	probably benign	Het
Vmn2r76	C	T	7: 85,879,374 (GRCm39)	G309R	probably benign	Het
Xpc	A	T	6: 91,476,513 (GRCm39)	C529S	probably benign	Het
Zfp455	T	A	13: 67,355,688 (GRCm39)	S254T	possibly damaging	Het
Zfp746	T	C	6: 48,041,823 (GRCm39)	H301R	possibly damaging	Het
Zyg11a	A	T	4: 108,049,271 (GRCm39)	I490N	probably damaging	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
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
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'- ATCTACAGACGCGTGGAAGG -3'
(R):5'- GAGTCCTCAGGGTTGACATC -3'

Sequencing Primer
(F):5'- TGGAAGGCCCTCAGCTG -3'
(R):5'- AGGGTTGACATCTTCATCGAC -3'

Posted On

2019-10-17