Mutagenetix > Incidental Mutation

Incidental Mutation 'R5987:Epor'

481739

Institutional Source

Beutler Lab

Gene Symbol

Epor

Ensembl Gene

ENSMUSG00000006235

Gene Name

erythropoietin receptor

Synonyms

MMRRC Submission

044167-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5987 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21870193-21874802 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21873572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 59 (D59G)

Ref Sequence

ENSEMBL: ENSMUSP00000006397 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006397] [ENSMUST00000053583] [ENSMUST00000213181]

AlphaFold

P14753

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006397
AA Change: D59G

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000006397
Gene: ENSMUSG00000006235
AA Change: D59G

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: ENSMUST00000053583

SMART Domains

Protein: ENSMUSP00000060331
Gene: ENSMUSG00000051238

Domain	Start	End	E-Value	Type
low complexity region	21	33	N/A	INTRINSIC
low complexity region	40	52	N/A	INTRINSIC
Blast:AAA	53	189	3e-34	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000213181

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 91.2%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	C	1: 71,297,257 (GRCm39)	L2411R	probably damaging	Het
Als2	A	G	1: 59,245,746 (GRCm39)	W577R	probably damaging	Het
Aox1	C	A	1: 58,346,518 (GRCm39)	R551S	probably benign	Het
Areg	A	T	5: 91,294,577 (GRCm39)	H245L	possibly damaging	Het
Arhgap35	T	C	7: 16,297,392 (GRCm39)	T558A	possibly damaging	Het
Arhgef28	A	T	13: 98,073,368 (GRCm39)	C1322*	probably null	Het
Arhgef38	T	C	3: 132,912,719 (GRCm39)	R107G	possibly damaging	Het
Atf7ip	T	A	6: 136,548,500 (GRCm39)	F695L	probably damaging	Het
AW209491	C	T	13: 14,812,365 (GRCm39)	A406V	probably benign	Het
Bche	T	G	3: 73,556,011 (GRCm39)	Q549P	possibly damaging	Het
Blnk	A	G	19: 40,917,733 (GRCm39)	F417L	possibly damaging	Het
Bloc1s1	T	G	10: 128,759,255 (GRCm39)	K17T	probably damaging	Het
C330018D20Rik	G	T	18: 57,090,968 (GRCm39)	T65K	probably damaging	Het
Ccdc168	A	T	1: 44,096,417 (GRCm39)	N1560K	probably benign	Het
Cers1	T	A	8: 70,774,228 (GRCm39)	S162T	possibly damaging	Het
Cgn	T	C	3: 94,686,832 (GRCm39)	K157E	probably benign	Het
Cldn7	G	A	11: 69,858,494 (GRCm39)	R196Q	probably benign	Het
Clrn2	C	A	5: 45,611,369 (GRCm39)	Q73K	probably benign	Het
Cmss1	A	G	16: 57,122,608 (GRCm39)	V262A	probably benign	Het
Cpb2	T	A	14: 75,498,128 (GRCm39)	V97E	probably damaging	Het
Ctnnd2	G	A	15: 30,683,387 (GRCm39)	V463I	probably benign	Het
Cyp7a1	A	T	4: 6,268,476 (GRCm39)	S416R	probably benign	Het
Dip2b	C	T	15: 100,087,960 (GRCm39)	R965C	probably damaging	Het
Dkk3	T	C	7: 111,749,865 (GRCm39)	T102A	probably benign	Het
Dmap1	C	A	4: 117,538,039 (GRCm39)		probably null	Het
Dnah12	C	A	14: 26,608,828 (GRCm39)	D3872E	possibly damaging	Het
Dnah7b	A	G	1: 46,158,558 (GRCm39)		probably null	Het
Dnai1	C	T	4: 41,632,391 (GRCm39)	T575I	probably benign	Het
Dsg1a	T	A	18: 20,464,599 (GRCm39)	Y365N	probably damaging	Het
Dusp11	T	A	6: 85,936,215 (GRCm39)	K18*	probably null	Het
E2f2	A	T	4: 135,900,245 (GRCm39)	T52S	probably benign	Het
Elavl4	A	G	4: 110,147,841 (GRCm39)	L13S	probably benign	Het
Eral1	A	G	11: 77,971,059 (GRCm39)	C43R	possibly damaging	Het
Fam135b	A	G	15: 71,362,697 (GRCm39)	V228A	probably benign	Het
Gba1	T	C	3: 89,113,129 (GRCm39)	S187P	probably damaging	Het
Gcc2	G	T	10: 58,091,669 (GRCm39)		probably benign	Het
Gdap2	C	A	3: 100,109,572 (GRCm39)		probably benign	Het
Gm10271	A	T	10: 116,808,497 (GRCm39)	F6L	probably damaging	Het
Gm10801	C	CGTG	2: 98,494,152 (GRCm39)		probably null	Het
Gpr160	T	C	3: 30,950,612 (GRCm39)	L228P	probably benign	Het
Gsdmc2	A	C	15: 63,702,715 (GRCm39)	V184G	probably benign	Het
Gtf2e2	A	T	8: 34,266,080 (GRCm39)	K252M	probably damaging	Het
Gtf2e2	G	T	8: 34,266,081 (GRCm39)	K252N	probably benign	Het
Gys1	T	C	7: 45,087,529 (GRCm39)	Y102H	probably benign	Het
H4c2	A	G	13: 23,941,209 (GRCm39)	D69G	probably damaging	Het
Ifit3b	A	C	19: 34,589,598 (GRCm39)	D258A	probably damaging	Het
Itpr3	T	A	17: 27,323,575 (GRCm39)	M1200K	probably damaging	Het
Kcng4	A	T	8: 120,353,098 (GRCm39)	F271I	probably damaging	Het
Klhdc2	C	T	12: 69,350,387 (GRCm39)	S144L	possibly damaging	Het
Lhcgr	A	G	17: 89,063,006 (GRCm39)	F222S	probably damaging	Het
Lrp5	C	G	19: 3,678,299 (GRCm39)	G519R	probably damaging	Het
Magel2	T	C	7: 62,028,515 (GRCm39)	V473A	probably benign	Het
Map1a	T	C	2: 121,134,776 (GRCm39)	V1864A	possibly damaging	Het
Mast4	T	A	13: 102,895,242 (GRCm39)	Q760H	probably damaging	Het
Mertk	A	G	2: 128,613,294 (GRCm39)	N437D	probably benign	Het
Mettl18	G	A	1: 163,824,344 (GRCm39)	V222I	probably benign	Het
Mical2	C	T	7: 111,934,155 (GRCm39)	T782M	probably benign	Het
Mocos	T	A	18: 24,819,750 (GRCm39)	V664E	probably damaging	Het
Neb	G	T	2: 52,185,306 (GRCm39)	N975K	probably benign	Het
Nectin3	A	T	16: 46,284,508 (GRCm39)	S59T	probably benign	Het
Nelfb	A	T	2: 25,093,900 (GRCm39)	M11K	probably damaging	Het
Nrp1	A	G	8: 129,202,650 (GRCm39)	N545S	probably damaging	Het
Or10ak11	T	C	4: 118,687,478 (GRCm39)	D53G	probably damaging	Het
Or2g1	T	A	17: 38,107,248 (GRCm39)	N304K	probably benign	Het
Or51b4	T	A	7: 103,530,907 (GRCm39)	D181V	probably damaging	Het
Or5b117	A	T	19: 13,431,324 (GRCm39)	S186T	possibly damaging	Het
Or5p67	T	A	7: 107,922,254 (GRCm39)	T210S	probably benign	Het
Or6c70	A	T	10: 129,710,390 (GRCm39)	F79I	probably damaging	Het
Or8g53	T	C	9: 39,683,836 (GRCm39)	T87A	probably benign	Het
P3h1	A	G	4: 119,103,862 (GRCm39)	H587R	probably damaging	Het
Paqr4	A	G	17: 23,958,832 (GRCm39)		probably null	Het
Pde12	A	G	14: 26,390,253 (GRCm39)	V152A	probably benign	Het
Ppip5k1	C	A	2: 121,180,972 (GRCm39)	E45*	probably null	Het
Ptch2	C	T	4: 116,967,254 (GRCm39)	A677V	probably benign	Het
Rgs12	A	G	5: 35,177,689 (GRCm39)	N93S	probably damaging	Het
Rif1	C	G	2: 51,985,856 (GRCm39)	L614V	probably damaging	Het
Rnf32	T	C	5: 29,408,145 (GRCm39)	S125P	probably damaging	Het
Robo4	A	G	9: 37,322,696 (GRCm39)	I850V	probably damaging	Het
Scap	T	A	9: 110,210,219 (GRCm39)	I876N	probably damaging	Het
Sin3a	A	G	9: 57,034,484 (GRCm39)	D1219G	possibly damaging	Het
Skint5	T	C	4: 113,743,005 (GRCm39)	E354G	unknown	Het
Spart	A	G	3: 55,033,962 (GRCm39)	D396G	probably benign	Het
Spindoc	G	A	19: 7,351,024 (GRCm39)	S311L	probably benign	Het
Spta1	G	T	1: 174,050,894 (GRCm39)	R1791L	probably damaging	Het
Tbck	T	C	3: 132,507,278 (GRCm39)	I750T	possibly damaging	Het
Tmem191	T	C	16: 17,094,334 (GRCm39)		probably null	Het
Trgv1	A	T	13: 19,524,474 (GRCm39)	Y66F	probably benign	Het
Vmn2r125	A	G	4: 156,702,292 (GRCm39)	Y26C	probably damaging	Het
Zbtb17	T	C	4: 141,192,128 (GRCm39)	C358R	possibly damaging	Het
Zfp180	G	A	7: 23,804,859 (GRCm39)	G426E	probably damaging	Het
Zfp445	A	G	9: 122,682,951 (GRCm39)	V330A	probably benign	Het
Zfp595	A	G	13: 67,465,688 (GRCm39)	C192R	probably damaging	Het
Zkscan4	A	G	13: 21,668,623 (GRCm39)	H387R	probably 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
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
R7413:Epor	UTSW	9	21,874,776 (GRCm39)	unclassified	probably benign
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'- ATTATTCCAGCTCCGGCCAC -3'
(R):5'- TTATCGGATCTGCACAGGC -3'

Sequencing Primer
(F):5'- GGCGACCTCCACACCATC -3'
(R):5'- TCTGCACAGGCGACAAG -3'

Posted On

2017-06-26