Mutagenetix > Incidental Mutations

Incidental Mutation 'R7115:Tfr2'

551720

Institutional Source

Beutler Lab

Gene Symbol

Tfr2

Ensembl Gene

ENSMUSG00000029716

Gene Name

transferrin receptor 2

Synonyms

Trfr2, Tfr2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7115 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

137569840-137587481 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 137571715 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 128 (T128A)

Ref Sequence

ENSEMBL: ENSMUSP00000031729 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000031729
AA Change: T128A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000031729
Gene: ENSMUSG00000029716
AA Change: T128A

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 benign
Transcript: ENSMUST00000196471
AA Change: T128A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142814
Gene: ENSMUSG00000029716
AA Change: T128A

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: T128A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142502
Gene: ENSMUSG00000029716
AA Change: T128A

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: T128A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142720
Gene: ENSMUSG00000029716
AA Change: T128A

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: T128A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142478
Gene: ENSMUSG00000029716
AA Change: T128A

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: 99.9%
10x: 99.7%
20x: 99.0%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,437,725	I636N	probably benign	Het
Adam5	A	G	8: 24,781,696	I565T	possibly damaging	Het
Amd2	C	A	10: 35,711,637		probably benign	Het
Ap5m1	T	A	14: 49,086,270	Y472*	probably null	Het
Apcdd1	T	C	18: 62,936,953	F97S	probably damaging	Het
Axdnd1	T	C	1: 156,380,876	K267R		Het
BC067074	T	G	13: 113,320,776	S1119A		Het
Carf	G	T	1: 60,148,150	L637F	probably damaging	Het
Ccdc103	A	T	11: 102,883,810	S95C	possibly damaging	Het
Cfap20	T	C	8: 95,421,246	I156V	probably benign	Het
Csn1s2a	T	C	5: 87,781,805	C96R	probably benign	Het
Ctif	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	18: 75,471,803		probably benign	Het
Dennd2a	G	A	6: 39,506,711	T405M	probably damaging	Het
Dennd5a	A	G	7: 109,894,754	Y1248H	probably damaging	Het
Dnah14	A	T	1: 181,720,145	K2504N	probably damaging	Het
Dnajb2	G	A	1: 75,243,662	G275D		Het
Elf3	T	G	1: 135,257,118	D110A	probably damaging	Het
Eomes	A	G	9: 118,484,489	N534S	probably benign	Het
Fry	A	T	5: 150,386,067	R659W	probably damaging	Het
Gm10428	G	A	11: 62,753,380	C94Y	unknown	Het
Gm2696	T	A	10: 77,836,299	C111S	unknown	Het
Gpt2	G	A	8: 85,518,052	E325K	probably benign	Het
Lrp1b	T	A	2: 40,998,235	N2338Y		Het
Map2k1	A	G	9: 64,212,606	I139T	probably damaging	Het
Olfr44	T	C	9: 39,484,648	I202V	probably benign	Het
Olfr964-ps1	T	C	9: 39,686,707	Y79C	probably benign	Het
Pxylp1	G	A	9: 96,825,010	T373I	probably benign	Het
Ranbp9	T	C	13: 43,406,671	N484S	probably benign	Het
Rassf5	A	G	1: 131,181,249	V293A	probably benign	Het
Ring1	A	G	17: 34,023,446	I29T	probably damaging	Het
Scn1a	G	A	2: 66,324,618	Q666*	probably null	Het
Spice1	G	A	16: 44,379,275	G697R	probably benign	Het
Tas2r131	A	G	6: 132,957,604	F81L	probably benign	Het
Tenm2	G	A	11: 36,163,817	S572L	probably damaging	Het
Trim56	T	A	5: 137,113,660	Q334L	probably damaging	Het
Vmn2r44	T	A	7: 8,367,528	R840*	probably null	Het

Other mutations in Tfr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Tfr2	APN	5	137574455	missense	probably null
IGL00960:Tfr2	APN	5	137571692	missense	probably benign	0.00
IGL01360:Tfr2	APN	5	137571691	missense	probably benign
IGL02967:Tfr2	APN	5	137582819	nonsense	probably null
IGL02996:Tfr2	APN	5	137583466	missense	probably benign
IGL03278:Tfr2	APN	5	137571036	nonsense	probably null
iron-man	UTSW	5	137583153	splice site	probably benign
R0114:Tfr2	UTSW	5	137577465	missense	probably benign	0.00
R1384:Tfr2	UTSW	5	137586820	splice site	probably benign
R1525:Tfr2	UTSW	5	137579030	missense	probably benign	0.00
R1545:Tfr2	UTSW	5	137583299	missense	probably benign	0.03
R1765:Tfr2	UTSW	5	137583445	missense	probably damaging	0.98
R1908:Tfr2	UTSW	5	137571692	missense	probably benign	0.00
R1943:Tfr2	UTSW	5	137578921	missense	probably benign
R3439:Tfr2	UTSW	5	137574651	missense	probably benign	0.03
R4332:Tfr2	UTSW	5	137571734	missense	probably damaging	1.00
R4626:Tfr2	UTSW	5	137571692	missense	probably benign	0.00
R4915:Tfr2	UTSW	5	137583411	missense	probably damaging	0.96
R4999:Tfr2	UTSW	5	137586925	missense	probably benign	0.00
R5150:Tfr2	UTSW	5	137574490	missense	probably benign	0.22
R5200:Tfr2	UTSW	5	137570980	splice site	probably benign
R5936:Tfr2	UTSW	5	137587006	missense	probably benign	0.00
R6165:Tfr2	UTSW	5	137580257	missense	probably damaging	0.97
R6513:Tfr2	UTSW	5	137574531	splice site	probably null
R7076:Tfr2	UTSW	5	137583574	missense	probably damaging	1.00
R7524:Tfr2	UTSW	5	137571489	nonsense	probably null
R7524:Tfr2	UTSW	5	137583489	missense	probably benign	0.12
X0067:Tfr2	UTSW	5	137577548	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ATCTGGTCCTGATCACCCTG -3'
(R):5'- CCAAGAAAGGACTTTGGGCAAC -3'

Sequencing Primer
(F):5'- CCTGCTAATCTTCACTGGGGG -3'
(R):5'- GGACTTTGGGCAACACGTG -3'

Posted On

2019-05-15