Mutagenetix > Incidental Mutation

Incidental Mutation 'R4599:Epor'

345444

Institutional Source

Beutler Lab

Gene Symbol

Epor

Ensembl Gene

ENSMUSG00000006235

Gene Name

erythropoietin receptor

Synonyms

MMRRC Submission

041815-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4599 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21870193-21874802 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21873155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 86 (S86P)

Ref Sequence

ENSEMBL: ENSMUSP00000006397 (fasta)

Gene Model

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

AlphaFold

P14753

Predicted Effect

probably benign
Transcript: ENSMUST00000006397
AA Change: S86P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000006397
Gene: ENSMUSG00000006235
AA Change: S86P

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
AA Change: S15P

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 119,854,626 (GRCm39)	V930A	probably benign	Het
Ankrd13b	T	C	11: 77,362,494 (GRCm39)	R677G	probably benign	Het
Apc	T	A	18: 34,451,040 (GRCm39)	Y2611*	probably null	Het
Apold1	A	G	6: 134,961,032 (GRCm39)	Y162C	probably damaging	Het
Atp6v0a4	T	C	6: 38,055,737 (GRCm39)	I325V	probably benign	Het
Cab39	A	G	1: 85,776,050 (GRCm39)	Y249C	probably damaging	Het
Cd22	T	A	7: 30,575,325 (GRCm39)	H239L	probably damaging	Het
Chrna7	A	G	7: 62,753,538 (GRCm39)	M327T	probably damaging	Het
Cimip2b	T	C	4: 43,427,574 (GRCm39)	H250R	possibly damaging	Het
Clock	T	C	5: 76,383,657 (GRCm39)	M499V	probably benign	Het
Clspn	A	G	4: 126,475,253 (GRCm39)	E1002G	probably benign	Het
Clta	C	T	4: 44,012,819 (GRCm39)	P10S	probably damaging	Het
Col5a3	A	G	9: 20,685,855 (GRCm39)		probably null	Het
Coq6	T	C	12: 84,408,913 (GRCm39)	V30A	probably benign	Het
Csmd2	G	T	4: 127,881,921 (GRCm39)	R20L	probably benign	Het
D430041D05Rik	A	T	2: 104,038,528 (GRCm39)	V1547D	probably damaging	Het
Dapk1	C	T	13: 60,865,861 (GRCm39)	P153S	probably benign	Het
Dock2	T	A	11: 34,189,536 (GRCm39)	Y1545F	probably damaging	Het
Dpp6	G	T	5: 27,839,546 (GRCm39)	G354C	probably damaging	Het
Dyrk1b	T	C	7: 27,881,856 (GRCm39)	L105P	probably damaging	Het
Gale	C	A	4: 135,695,148 (GRCm39)	S341*	probably null	Het
Galnt4	T	A	10: 98,945,355 (GRCm39)	V360E	probably damaging	Het
Gart	A	T	16: 91,419,833 (GRCm39)	C24*	probably null	Het
Gcnt2	G	T	13: 41,040,966 (GRCm39)	V42L	probably benign	Het
Herc6	A	G	6: 57,636,698 (GRCm39)	I805V	probably benign	Het
Ints12	T	A	3: 132,804,214 (GRCm39)	I67N	probably benign	Het
Irx1	C	A	13: 72,108,232 (GRCm39)	R150L	probably damaging	Het
Kif26b	A	G	1: 178,358,024 (GRCm39)	Y45C	unknown	Het
Krt35	T	C	11: 99,984,834 (GRCm39)	T275A	probably damaging	Het
Laptm5	G	T	4: 130,643,316 (GRCm39)		probably benign	Het
Lin7a	T	C	10: 107,248,027 (GRCm39)	S111P	unknown	Het
Med27	A	G	2: 29,414,470 (GRCm39)	D159G	probably damaging	Het
Msh2	A	G	17: 88,016,006 (GRCm39)	K546R	probably damaging	Het
Myo1a	A	T	10: 127,556,020 (GRCm39)		probably null	Het
Myo1c	T	C	11: 75,559,019 (GRCm39)	F604L	probably damaging	Het
Myrip	A	G	9: 120,293,850 (GRCm39)	K782E	probably damaging	Het
Ndc80	T	C	17: 71,828,063 (GRCm39)	D88G	probably damaging	Het
Nrxn2	A	G	19: 6,505,282 (GRCm39)	D375G	probably damaging	Het
Or2y10	T	C	11: 49,455,545 (GRCm39)	S266P	probably damaging	Het
Or52e7	A	G	7: 104,685,280 (GRCm39)	I292V	probably benign	Het
Padi3	T	C	4: 140,525,422 (GRCm39)	H187R	probably damaging	Het
Pcdhgb1	A	T	18: 37,814,610 (GRCm39)	N367I	probably damaging	Het
Pdrg1	T	C	2: 152,854,310 (GRCm39)	I77V	probably benign	Het
Pfas	T	C	11: 68,881,895 (GRCm39)	E930G	probably benign	Het
Pik3cb	C	T	9: 98,943,817 (GRCm39)	R662Q	probably benign	Het
Pla2g4e	T	G	2: 120,016,863 (GRCm39)	H226P	possibly damaging	Het
Plxnd1	A	T	6: 115,971,237 (GRCm39)	V177E	probably damaging	Het
Prmt7	A	G	8: 106,976,961 (GRCm39)	S558G	possibly damaging	Het
Pspc1	A	C	14: 57,015,246 (GRCm39)		probably null	Het
Rilp	T	C	11: 75,403,586 (GRCm39)	S343P	probably benign	Het
Ror1	A	G	4: 100,265,107 (GRCm39)	M194V	probably damaging	Het
Rsu1	T	C	2: 13,174,815 (GRCm39)	Y225C	probably damaging	Het
Rundc1	A	G	11: 101,324,752 (GRCm39)	N486S	probably damaging	Het
Sema6d	T	A	2: 124,496,151 (GRCm39)	I65N	probably damaging	Het
Slc5a11	A	G	7: 122,857,601 (GRCm39)	E230G	probably benign	Het
Spint1	T	C	2: 119,076,941 (GRCm39)	S342P	probably damaging	Het
Stard3nl	A	G	13: 19,551,923 (GRCm39)	S214P	probably damaging	Het
Tcp10a	A	C	17: 7,604,323 (GRCm39)	T271P	probably damaging	Het
Tie1	A	G	4: 118,329,831 (GRCm39)	Y1091H	probably benign	Het
Tlr12	T	C	4: 128,511,125 (GRCm39)	Y375C	probably benign	Het
Tmem107	T	A	11: 68,962,274 (GRCm39)	M77K	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tns3	T	C	11: 8,481,747 (GRCm39)	K202E	probably damaging	Het
Tspoap1	C	T	11: 87,670,347 (GRCm39)	P1634L	probably damaging	Het
Ttc7b	G	A	12: 100,466,376 (GRCm39)	R79C	probably damaging	Het
Ush2a	A	G	1: 188,643,844 (GRCm39)	N4402S	probably benign	Het
Vmn2r13	A	T	5: 109,304,322 (GRCm39)	I703N	probably damaging	Het
Xrcc4	A	G	13: 90,210,126 (GRCm39)		probably null	Het
Zp3	A	T	5: 136,013,089 (GRCm39)	K168*	probably null	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
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
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'- TGAAATGGATCCTGTAGGCGG -3'
(R):5'- CAATGGACTCAGGTATTACGTTG -3'

Sequencing Primer
(F):5'- CACCCCATCGATGTCGC -3'
(R):5'- CGTTGGAATTAGGGCACTACCATC -3'

Posted On

2015-09-25