Mutagenetix > Incidental Mutation

Incidental Mutation 'R7182:Epor'

559051

Institutional Source

Beutler Lab

Gene Symbol

Epor

Ensembl Gene

ENSMUSG00000006235

Gene Name

erythropoietin receptor

Synonyms

MMRRC Submission

045234-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7182 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21958897-21963506 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21963329 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 35 (F35L)

Ref Sequence

ENSEMBL: ENSMUSP00000006397 (fasta)

Gene Model

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

AlphaFold

P14753

Predicted Effect

probably benign
Transcript: ENSMUST00000006397
AA Change: F35L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000006397
Gene: ENSMUSG00000006235
AA Change: F35L

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (70/73)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,849,714 (GRCm38)	V323A	unknown	Het
AC117241.1	A	G	17: 7,352,688 (GRCm38)	V158A	unknown	Het
Acadm	A	G	3: 153,941,881 (GRCm38)		probably null	Het
Adcy10	T	G	1: 165,543,470 (GRCm38)		probably null	Het
Aldh6a1	C	T	12: 84,441,831 (GRCm38)	A94T	probably benign	Het
Ano2	T	A	6: 125,790,293 (GRCm38)	L229Q	probably damaging	Het
Cacna1h	C	T	17: 25,377,655 (GRCm38)	R1828H	probably damaging	Het
Ccdc33	A	T	9: 58,034,173 (GRCm38)		probably null	Het
Cep112	A	C	11: 108,682,844 (GRCm38)	D6A	probably benign	Het
Chd9	T	C	8: 91,006,622 (GRCm38)	F1373S	unknown	Het
Cog5	T	C	12: 31,685,708 (GRCm38)	L158P	probably damaging	Het
Col6a3	G	A	1: 90,803,678 (GRCm38)	Q1618*	probably null	Het
Dlg5	A	G	14: 24,244,856 (GRCm38)	V3A		Het
Dnah7a	T	A	1: 53,620,461 (GRCm38)		probably null	Het
Dpp10	A	T	1: 123,341,151 (GRCm38)	H716Q	probably benign	Het
Ergic1	A	T	17: 26,654,882 (GRCm38)	Y92F		Het
Fam98a	G	A	17: 75,539,018 (GRCm38)	Q273*	probably null	Het
Fhdc1	G	A	3: 84,448,850 (GRCm38)	T429I	probably damaging	Het
Fmnl2	T	A	2: 53,107,441 (GRCm38)	L468Q	unknown	Het
Fmnl3	C	T	15: 99,321,782 (GRCm38)	R695Q	probably damaging	Het
Gabrg2	T	C	11: 41,920,506 (GRCm38)	M271V	probably damaging	Het
Garin4	C	T	1: 191,163,351 (GRCm38)	R365H	probably damaging	Het
Gk5	G	T	9: 96,119,526 (GRCm38)	V26L	possibly damaging	Het
Gm14412	A	C	2: 177,315,615 (GRCm38)	N162K	probably benign	Het
Gm3604	T	C	13: 62,371,875 (GRCm38)	D22G	probably damaging	Het
Gm5565	G	T	5: 146,158,055 (GRCm38)	H294N	probably benign	Het
Hsf2	T	A	10: 57,505,176 (GRCm38)	D287E	possibly damaging	Het
Ift70b	A	T	2: 75,937,949 (GRCm38)	Y153*	probably null	Het
Impdh2	G	A	9: 108,563,208 (GRCm38)	R231H	possibly damaging	Het
Irak3	T	C	10: 120,166,511 (GRCm38)	H234R	probably damaging	Het
Lrba	GTTCCCTTC	GTTC	3: 86,741,458 (GRCm38)		probably null	Het
Lrch3	T	A	16: 32,993,779 (GRCm38)	D551E	probably benign	Het
Manba	A	T	3: 135,567,513 (GRCm38)	N736I	probably benign	Het
Map2	A	G	1: 66,412,653 (GRCm38)	D234G	possibly damaging	Het
Mdk	C	A	2: 91,930,852 (GRCm38)	K121N	unknown	Het
Mfn1	T	A	3: 32,564,220 (GRCm38)	L526Q	probably damaging	Het
Mfsd2b	A	G	12: 4,866,157 (GRCm38)		probably null	Het
Mnat1	G	T	12: 73,230,678 (GRCm38)	E233*	probably null	Het
Mtmr4	T	C	11: 87,604,605 (GRCm38)		probably null	Het
Mtrf1	A	G	14: 79,423,464 (GRCm38)	E432G	possibly damaging	Het
Muc5b	C	T	7: 141,842,645 (GRCm38)	R165C	unknown	Het
Naip6	T	A	13: 100,316,149 (GRCm38)	I135F	probably benign	Het
Nod2	A	G	8: 88,663,832 (GRCm38)	T256A	probably benign	Het
Notch4	T	A	17: 34,583,499 (GRCm38)	V1298E	probably damaging	Het
Nudc	G	T	4: 133,534,465 (GRCm38)	D169E	possibly damaging	Het
Obscn	A	T	11: 59,035,101 (GRCm38)	I5602N	probably damaging	Het
Or5b114-ps1	G	A	19: 13,375,844 (GRCm38)	G294E	unknown	Het
Osbpl10	G	A	9: 115,067,251 (GRCm38)	D18N	probably damaging	Het
Pigk	G	A	3: 152,722,551 (GRCm38)	V72I	possibly damaging	Het
Prl8a6	C	T	13: 27,437,170 (GRCm38)	E26K	probably damaging	Het
Prpf8	A	G	11: 75,490,727 (GRCm38)	Y318C	possibly damaging	Het
Rab13	A	G	3: 90,224,763 (GRCm38)	D159G	possibly damaging	Het
Rgl2	T	C	17: 33,934,990 (GRCm38)	F457L	possibly damaging	Het
Ryr2	T	C	13: 11,759,757 (GRCm38)	H1171R	probably benign	Het
Scn4a	T	A	11: 106,330,308 (GRCm38)	I842F	probably benign	Het
Scnm1	A	T	3: 95,133,854 (GRCm38)	N14K	possibly damaging	Het
Serinc1	A	T	10: 57,524,361 (GRCm38)	I137N	probably benign	Het
Slc30a3	A	C	5: 31,089,670 (GRCm38)	M103R	probably damaging	Het
Slc30a3	T	C	5: 31,086,825 (GRCm38)	Q371R	probably benign	Het
Slco1a1	A	T	6: 141,911,839 (GRCm38)	C589S	probably damaging	Het
Slco1b2	A	G	6: 141,656,930 (GRCm38)	Y203C	probably damaging	Het
Spty2d1	A	T	7: 46,998,523 (GRCm38)	D219E	probably benign	Het
Svep1	A	T	4: 58,043,991 (GRCm38)	S3552T	probably benign	Het
Tmem62	A	G	2: 121,004,743 (GRCm38)	I516M	probably benign	Het
Trim61	A	T	8: 65,013,614 (GRCm38)	S332T	probably damaging	Het
Trmt10b	A	C	4: 45,308,520 (GRCm38)	T227P	probably benign	Het
Trpc3	T	C	3: 36,655,109 (GRCm38)	Q406R	probably benign	Het
Ush2a	A	T	1: 188,753,543 (GRCm38)	Y2950F	probably benign	Het
Usp32	C	T	11: 85,040,170 (GRCm38)	G478D	probably benign	Het
Wdfy3	A	G	5: 101,943,892 (GRCm38)	L527P	possibly damaging	Het
Wdr73	A	G	7: 80,893,678 (GRCm38)	V163A	possibly damaging	Het

Other mutations in Epor

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00813:Epor	APN	9	21,960,591 (GRCm38)	missense	possibly damaging	0.50
IGL01377:Epor	APN	9	21,959,297 (GRCm38)	missense	probably damaging	1.00
IGL01400:Epor	APN	9	21,959,439 (GRCm38)	splice site	probably null
IGL01462:Epor	APN	9	21,959,456 (GRCm38)	missense	probably damaging	1.00
R1741:Epor	UTSW	9	21,959,771 (GRCm38)	missense	probably damaging	1.00
R1983:Epor	UTSW	9	21,959,400 (GRCm38)	missense	probably benign	0.00
R2414:Epor	UTSW	9	21,959,489 (GRCm38)	missense	probably damaging	1.00
R2655:Epor	UTSW	9	21,960,720 (GRCm38)	missense	probably damaging	1.00
R2879:Epor	UTSW	9	21,959,640 (GRCm38)	missense	probably damaging	1.00
R4598:Epor	UTSW	9	21,961,859 (GRCm38)	missense	probably benign	0.00
R4599:Epor	UTSW	9	21,961,859 (GRCm38)	missense	probably benign	0.00
R5987:Epor	UTSW	9	21,962,276 (GRCm38)	missense	possibly damaging	0.83
R6462:Epor	UTSW	9	21,959,255 (GRCm38)	missense	probably benign	0.05
R7413:Epor	UTSW	9	21,963,480 (GRCm38)	unclassified	probably benign
R8717:Epor	UTSW	9	21,959,445 (GRCm38)	missense	probably benign	0.00
R9053:Epor	UTSW	9	21,959,359 (GRCm38)	missense	probably benign	0.28
R9108:Epor	UTSW	9	21,959,579 (GRCm38)	missense	probably damaging	1.00
R9494:Epor	UTSW	9	21,959,226 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATCTTAAGCCTCTGCCCTG -3'
(R):5'- TAGAAGCTCCTGGTCAGCTG -3'

Sequencing Primer
(F):5'- TGAGCATCACTCCAGGGC -3'
(R):5'- TCCTGGTCAGCTGTGTCCG -3'

Posted On

2019-06-26