Mutagenetix > Incidental Mutation

Incidental Mutation 'R9495:Tfr2'

717148

Institutional Source

Beutler Lab

Gene Symbol

Tfr2

Ensembl Gene

ENSMUSG00000029716

Gene Name

transferrin receptor 2

Synonyms

Trfr2, Tfr2

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9495 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

137569840-137587481 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 137574439 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 171 (V171I)

Ref Sequence

ENSEMBL: ENSMUSP00000031729 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031725] [ENSMUST00000031729] [ENSMUST00000139395] [ENSMUST00000196471] [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 benign
Transcript: ENSMUST00000031729
AA Change: V171I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000031729
Gene: ENSMUSG00000029716
AA Change: V171I

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: ENSMUST00000196375

Predicted Effect

probably benign
Transcript: ENSMUST00000196471
AA Change: V171I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000142814
Gene: ENSMUSG00000029716
AA Change: V171I

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: V171I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000142502
Gene: ENSMUSG00000029716
AA Change: V171I

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: V171I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000142720
Gene: ENSMUSG00000029716
AA Change: V171I

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: V171I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000142478
Gene: ENSMUSG00000029716
AA Change: V171I

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: 99.1%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	C	T	8: 45,956,421	S287N	probably damaging	Het
1700088E04Rik	T	A	15: 79,135,642	D158V	probably benign	Het
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 29,247,623		probably benign	Het
Acp5	G	A	9: 22,127,187	Q273*	probably null	Het
Apoa5	G	C	9: 46,270,646	R340P	probably damaging	Het
Atp2b1	T	A	10: 98,999,798	N468K	probably damaging	Het
Bphl	A	T	13: 34,050,329	I143L	probably benign	Het
C130079G13Rik	T	C	3: 59,932,693	I62T	possibly damaging	Het
Ccdc58	A	G	16: 36,072,121	E12G	probably benign	Het
Cd33	A	T	7: 43,532,726	H98Q	probably benign	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Colec10	A	G	15: 54,462,365	D197G	probably damaging	Het
Cpt1a	T	C	19: 3,383,795	M759T	probably benign	Het
Ctc1	A	G	11: 69,022,767	Y165C	probably damaging	Het
Cyp2t4	G	A	7: 27,155,292	V66M	possibly damaging	Het
Dnah2	T	C	11: 69,454,382	D2667G	possibly damaging	Het
Dok1	T	C	6: 83,032,991	K46E	probably damaging	Het
Erv3	C	A	2: 131,856,055	W128L	possibly damaging	Het
Fam186a	A	G	15: 99,946,885	S493P	unknown	Het
Fbn1	A	T	2: 125,319,064	N2185K	probably damaging	Het
Figla	A	C	6: 86,020,707	H139P	probably benign	Het
Gemin4	A	G	11: 76,210,923	L1004P	probably damaging	Het
Gm11937	T	C	11: 99,609,820	T124A	unknown	Het
Gm17669	G	T	18: 67,562,612	V76L	probably benign	Het
Gm8765	T	A	13: 50,701,429	S368T	possibly damaging	Het
Hcls1	A	T	16: 36,957,340	M274L	probably benign	Het
Hist2h2ab	A	G	3: 96,220,085	E57G	probably damaging	Het
Il17rc	T	C	6: 113,472,780	S116P	probably damaging	Het
Krt79	G	A	15: 101,931,853	R303C	probably damaging	Het
Lamb2	C	T	9: 108,480,807	T149I	probably damaging	Het
Lrrc41	T	A	4: 116,075,609		probably null	Het
Mga	C	A	2: 119,951,195	T2234K	possibly damaging	Het
Muc6	T	A	7: 141,651,133	Q205L	probably damaging	Het
Nlrp9b	A	T	7: 20,026,537	K624N	possibly damaging	Het
Olfr463	C	T	11: 87,893,256	V223M	probably benign	Het
Olfr49	T	C	14: 54,282,680	T72A	probably damaging	Het
Olfr99	G	T	17: 37,280,495		probably benign	Het
Otud4	T	C	8: 79,673,458	S934P	probably damaging	Het
Pcdha12	G	T	18: 37,022,473	W748C	probably damaging	Het
Pdc	T	C	1: 150,333,168	I134T	probably damaging	Het
Peg10	T	TCCC	6: 4,756,451		probably benign	Het
Pkn1	C	T	8: 83,684,170	R276Q	possibly damaging	Het
Plin3	C	A	17: 56,280,824	G297V	probably benign	Het
Podn	C	T	4: 108,018,909	V517I	probably benign	Het
Pomk	T	C	8: 25,983,316	D203G	probably damaging	Het
Ppil4	A	G	10: 7,799,591	D168G	probably damaging	Het
Ptgr2	T	C	12: 84,307,873	I276T	probably benign	Het
Ptk7	T	A	17: 46,576,818	I563F	possibly damaging	Het
Rbm12	G	T	2: 156,097,818	T178K	unknown	Het
Sctr	T	C	1: 120,031,673		probably null	Het
Sh2b1	GGGACC	GGGACCGGCTCAGCCACGTGGACC	7: 126,467,572		probably benign	Het
Steap1	A	T	5: 5,736,458	D326E	probably damaging	Het
Stra6	G	A	9: 58,151,892	V513I	probably benign	Het
Tbx19	A	G	1: 165,138,977	S443P	unknown	Het
Tcea3	T	A	4: 136,264,574	C190S	probably damaging	Het
Tm7sf3	C	T	6: 146,623,681	D89N	possibly damaging	Het
Tmem129	A	G	5: 33,657,778	V17A	probably benign	Het
Tmem2	T	A	19: 21,801,885	V353D	probably damaging	Het
Tmem87b	T	C	2: 128,818,433	L32P	probably damaging	Het
Tor1aip1	T	A	1: 156,030,431	D205V	probably damaging	Het
Trim33	T	C	3: 103,331,758	V684A	probably benign	Het
Triobp	C	T	15: 78,993,178	R1637C	probably damaging	Het
Uhrf1bp1	A	G	17: 27,893,440	D1201G	probably damaging	Het
Ulbp1	C	A	10: 7,456,371	M196I	probably benign	Het
Vash1	G	A	12: 86,691,889	G370E	probably damaging	Het
Vmn2r23	A	G	6: 123,712,713	T183A	probably benign	Het
Vta1	A	G	10: 14,655,839	I264T	probably benign	Het
Zcchc8	A	T	5: 123,700,570	M635K	probably benign	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
R7115:Tfr2	UTSW	5	137571715	missense	probably benign
R7524:Tfr2	UTSW	5	137571489	nonsense	probably null
R7524:Tfr2	UTSW	5	137583489	missense	probably benign	0.12
R7799:Tfr2	UTSW	5	137571724	missense	possibly damaging	0.69
R8225:Tfr2	UTSW	5	137571463	missense	possibly damaging	0.95
R9040:Tfr2	UTSW	5	137574705	missense	probably benign	0.00
R9513:Tfr2	UTSW	5	137577507	missense	possibly damaging	0.72
R9515:Tfr2	UTSW	5	137577507	missense	possibly damaging	0.72
X0067:Tfr2	UTSW	5	137577548	missense	probably benign	0.01
Z1176:Tfr2	UTSW	5	137571737	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGTATACATGAGATGCCACCC -3'
(R):5'- TAGACTTCCGGATCCTCCAG -3'

Sequencing Primer
(F):5'- ACCCCAGGCCTGCATTTAC -3'
(R):5'- TCTGCATCCACCCAGTGCAG -3'

Posted On

2022-07-18