Mutagenetix > Incidental Mutation

Incidental Mutation 'R7413:Epor'

575222

Institutional Source

Beutler Lab

Gene Symbol

Epor

Ensembl Gene

ENSMUSG00000006235

Gene Name

erythropoietin receptor

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7413 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21870193-21874802 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 21874776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149402 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006397] [ENSMUST00000213181]

AlphaFold

P14753

Predicted Effect

probably benign
Transcript: ENSMUST00000006397

SMART Domains

Protein: ENSMUSP00000006397
Gene: ENSMUSG00000006235

Domain	Start	End	E-Value	Type
Pfam:EpoR_lig-bind	37	139	9.1e-30	PFAM
FN3	144	227	2.48e-6	SMART
transmembrane domain	250	272	N/A	INTRINSIC
low complexity region	434	451	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000213181

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the erythropoietin receptor which is a member of the cytokine receptor family. Upon erythropoietin binding, this receptor activates Jak2 tyrosine kinase which activates different intracellular pathways including: Ras/MAP kinase, phosphatidylinositol 3-kinase and STAT transcription factors. The stimulated erythropoietin receptor appears to have a role in erythroid cell survival. Defects in the erythropoietin receptor may produce erythroleukemia and familial erythrocytosis. Dysregulation of this gene may affect the growth of certain tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
PHENOTYPE: Mutations in this locus affect erythropoiesis. Targeted null mutants die at embryonic day 11-12.5 with severe anemia. Mutants with truncated alleles are viable with mild changes in erythropoiesis. A human mutation replacement allele produces polycythemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	C	19: 31,895,524 (GRCm39)		probably null	Het
Agbl4	A	T	4: 111,514,495 (GRCm39)	D502V	probably benign	Het
Akap5	T	A	12: 76,375,678 (GRCm39)	V370E	possibly damaging	Het
Alms1	T	C	6: 85,605,288 (GRCm39)	C1844R	probably benign	Het
Apaf1	T	C	10: 90,831,542 (GRCm39)	K1191E	probably benign	Het
Bsn	C	T	9: 108,016,690 (GRCm39)	R107Q	possibly damaging	Het
Catsperb	G	T	12: 101,447,307 (GRCm39)	R269L	probably damaging	Het
Ccer1	T	C	10: 97,529,804 (GRCm39)	S156P	unknown	Het
Cdh16	C	T	8: 105,346,572 (GRCm39)	A241T	probably benign	Het
Cdk5rap2	A	G	4: 70,172,972 (GRCm39)	S1367P	probably damaging	Het
Cds2	C	T	2: 132,135,235 (GRCm39)	P42L	probably benign	Het
Col15a1	T	C	4: 47,245,431 (GRCm39)	Y61H	possibly damaging	Het
Dclre1a	G	A	19: 56,531,082 (GRCm39)	P755S	probably damaging	Het
Ddi1	A	T	9: 6,265,670 (GRCm39)	M233K	probably damaging	Het
Dpp4	T	C	2: 62,187,333 (GRCm39)	Y474C	probably damaging	Het
Epha7	T	A	4: 28,871,838 (GRCm39)	M389K	probably benign	Het
Ephb3	T	C	16: 21,033,457 (GRCm39)	F181S	probably damaging	Het
Fbp2	C	A	13: 62,985,067 (GRCm39)	V285L	probably benign	Het
Flnc	A	T	6: 29,452,258 (GRCm39)	D1694V	probably damaging	Het
Ganab	T	A	19: 8,882,339 (GRCm39)	M98K	probably benign	Het
Gcm2	A	G	13: 41,259,230 (GRCm39)	S80P	probably damaging	Het
Gls	A	G	1: 52,254,735 (GRCm39)	S247P	probably benign	Het
Gne	T	C	4: 44,044,857 (GRCm39)	N426D	probably benign	Het
Ifne	A	T	4: 88,797,840 (GRCm39)	*193R	probably null	Het
Igf2r	G	T	17: 12,917,115 (GRCm39)	S1595*	probably null	Het
Krt26	C	T	11: 99,225,887 (GRCm39)	M226I	probably benign	Het
Lars2	G	A	9: 123,288,568 (GRCm39)	V805I	probably benign	Het
Lrrc57	C	A	2: 120,436,577 (GRCm39)	R177L	probably damaging	Het
Lrrn1	A	G	6: 107,546,083 (GRCm39)	E627G	probably benign	Het
Magel2	CCCTCCTCCTCCTCCTCCTCCT	CCCTCCTCCTCCTCCTCCT	7: 62,027,592 (GRCm39)		probably benign	Het
Mdga1	A	T	17: 30,069,647 (GRCm39)	V133E	probably damaging	Het
Med12l	A	G	3: 58,998,971 (GRCm39)	T644A	probably benign	Het
Meis1	T	A	11: 18,938,357 (GRCm39)	D218V	probably damaging	Het
Myo15b	A	G	11: 115,768,970 (GRCm39)	E1439G		Het
Naa12	T	C	18: 80,254,874 (GRCm39)	V56A	possibly damaging	Het
Nckipsd	G	A	9: 108,691,280 (GRCm39)	V401I	probably benign	Het
Nrg3	T	C	14: 38,092,669 (GRCm39)	I655V	probably damaging	Het
Oprm1	A	T	10: 6,778,919 (GRCm39)	I107F	probably damaging	Het
Or4k42	A	C	2: 111,319,933 (GRCm39)	I190R	probably benign	Het
Or52n3	A	T	7: 104,530,057 (GRCm39)	I48F	probably benign	Het
Or5p51	T	C	7: 107,444,721 (GRCm39)	D73G	probably damaging	Het
Osbpl7	T	C	11: 96,945,704 (GRCm39)		probably null	Het
Pcdh18	T	G	3: 49,699,232 (GRCm39)	S1077R	possibly damaging	Het
Pcdhb16	A	T	18: 37,611,975 (GRCm39)	K312*	probably null	Het
Plekhh2	A	T	17: 84,873,724 (GRCm39)	E336D	probably benign	Het
Ptprd	A	T	4: 76,165,076 (GRCm39)	S49T	probably benign	Het
Pxdn	A	G	12: 30,052,927 (GRCm39)	I1035V	probably benign	Het
Rlf	C	T	4: 121,007,297 (GRCm39)	G671D	probably damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,128 (GRCm39)		probably benign	Het
Selenbp2	A	G	3: 94,607,404 (GRCm39)	Q275R	probably benign	Het
Slc10a1	G	T	12: 81,007,396 (GRCm39)	F128L	probably benign	Het
Slitrk1	A	T	14: 109,149,357 (GRCm39)	Y451*	probably null	Het
Spata31f3	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823 (GRCm39)		probably benign	Het
Stambpl1	G	C	19: 34,204,116 (GRCm39)	G69R	probably damaging	Het
Surf4	G	T	2: 26,814,455 (GRCm39)	R149S	probably benign	Het
Tmem151a	T	C	19: 5,132,702 (GRCm39)	Y168C	probably damaging	Het
Ttc39c	A	G	18: 12,861,746 (GRCm39)	K416R	possibly damaging	Het
Tut4	T	C	4: 108,406,533 (GRCm39)	I1367T	possibly damaging	Het
Vit	T	C	17: 78,932,309 (GRCm39)	I472T	probably damaging	Het
Vmn1r212	A	C	13: 23,067,718 (GRCm39)	L205R	probably damaging	Het
Wscd2	T	C	5: 113,715,402 (GRCm39)	I414T	probably benign	Het
Zfp1005	A	C	2: 150,108,081 (GRCm39)	T14P	possibly damaging	Het

Other mutations in Epor

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00813:Epor	APN	9	21,871,887 (GRCm39)	missense	possibly damaging	0.50
IGL01377:Epor	APN	9	21,870,593 (GRCm39)	missense	probably damaging	1.00
IGL01400:Epor	APN	9	21,870,735 (GRCm39)	splice site	probably null
IGL01462:Epor	APN	9	21,870,752 (GRCm39)	missense	probably damaging	1.00
R1741:Epor	UTSW	9	21,871,067 (GRCm39)	missense	probably damaging	1.00
R1983:Epor	UTSW	9	21,870,696 (GRCm39)	missense	probably benign	0.00
R2414:Epor	UTSW	9	21,870,785 (GRCm39)	missense	probably damaging	1.00
R2655:Epor	UTSW	9	21,872,016 (GRCm39)	missense	probably damaging	1.00
R2879:Epor	UTSW	9	21,870,936 (GRCm39)	missense	probably damaging	1.00
R4598:Epor	UTSW	9	21,873,155 (GRCm39)	missense	probably benign	0.00
R4599:Epor	UTSW	9	21,873,155 (GRCm39)	missense	probably benign	0.00
R5987:Epor	UTSW	9	21,873,572 (GRCm39)	missense	possibly damaging	0.83
R6462:Epor	UTSW	9	21,870,551 (GRCm39)	missense	probably benign	0.05
R7182:Epor	UTSW	9	21,874,625 (GRCm39)	missense	probably benign	0.01
R8717:Epor	UTSW	9	21,870,741 (GRCm39)	missense	probably benign	0.00
R9053:Epor	UTSW	9	21,870,655 (GRCm39)	missense	probably benign	0.28
R9108:Epor	UTSW	9	21,870,875 (GRCm39)	missense	probably damaging	1.00
R9494:Epor	UTSW	9	21,870,522 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCATTGCCCATGTACAGTTC -3'
(R):5'- CCTACACTGGTTTAGGCAGTG -3'

Sequencing Primer
(F):5'- CTTACCTTTGCTCTCAAACTTGGGG -3'
(R):5'- AAGAAGGCCCCTGTTCCCTTG -3'

Posted On

2019-10-07