Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02716:Epdr1'

304795

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Epdr1

Ensembl Gene

ENSMUSG00000002808

Gene Name

ependymin related 1

Synonyms

MERP-1, Epdr2, Epdr1, Ucc1, MERP2, MERP-2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02716

Quality Score

Status

Chromosome

Chromosomal Location

19775878-19804000 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 19778740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 119 (V119M)

Ref Sequence

ENSEMBL: ENSMUSP00000002885 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002885] [ENSMUST00000220944] [ENSMUST00000221014]

AlphaFold

Q99M71

Predicted Effect

probably benign
Transcript: ENSMUST00000002885
AA Change: V119M

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000002885
Gene: ENSMUSG00000002808
AA Change: V119M

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:Ependymin	87	210	1e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000220944
AA Change: V17M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000221014

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type II transmembrane protein that is similar to two families of cell adhesion molecules, the protocadherins and ependymins. This protein may play a role in calcium-dependent cell adhesion. This protein is glycosylated, and the orthologous mouse protein is localized to the lysosome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	T	C	11: 54,218,102 (GRCm39)	S212P	probably benign	Het
Ago2	C	T	15: 72,983,576 (GRCm39)	R711Q	possibly damaging	Het
Akp3	A	C	1: 87,053,201 (GRCm39)	D91A	probably damaging	Het
Arhgap12	T	A	18: 6,111,857 (GRCm39)	Q169L	possibly damaging	Het
Aspm	A	G	1: 139,407,425 (GRCm39)	Y2104C	probably damaging	Het
Baz2b	G	A	2: 59,792,868 (GRCm39)	S420L	possibly damaging	Het
Cenpo	T	C	12: 4,265,390 (GRCm39)	N210S	possibly damaging	Het
Chadl	T	C	15: 81,580,116 (GRCm39)	N40D	probably damaging	Het
Crebbp	T	C	16: 3,932,742 (GRCm39)	E586G	probably benign	Het
Cts7	T	A	13: 61,504,422 (GRCm39)	Q47L	probably benign	Het
Cyp2c40	C	A	19: 39,795,980 (GRCm39)	D133Y	possibly damaging	Het
Dnah3	A	T	7: 119,536,246 (GRCm39)	M3679K	probably damaging	Het
Dym	T	C	18: 75,419,754 (GRCm39)	Y642H	probably damaging	Het
Efr3b	T	C	12: 4,034,627 (GRCm39)	D65G	probably damaging	Het
Elmo1	T	A	13: 20,633,672 (GRCm39)	F445I	probably damaging	Het
Epha4	G	T	1: 77,357,602 (GRCm39)	R799S	probably damaging	Het
Esyt3	A	T	9: 99,199,277 (GRCm39)	V778E	probably damaging	Het
F10	A	T	8: 13,098,177 (GRCm39)	K127*	probably null	Het
Fcgbp	G	A	7: 27,800,859 (GRCm39)	E1302K	probably damaging	Het
Fer1l4	A	G	2: 155,871,635 (GRCm39)	F1382L	probably damaging	Het
Fhad1	T	C	4: 141,645,642 (GRCm39)	I318V	possibly damaging	Het
Fscn2	A	T	11: 120,257,550 (GRCm39)	T304S	probably benign	Het
Gab1	A	T	8: 81,496,323 (GRCm39)	L659Q	probably damaging	Het
Gm4845	A	C	1: 141,184,576 (GRCm39)		noncoding transcript	Het
Gm572	A	G	4: 148,739,327 (GRCm39)	M52V	probably benign	Het
Hmgcr	T	C	13: 96,796,520 (GRCm39)		probably null	Het
Kcnk5	T	C	14: 20,231,496 (GRCm39)	T9A	probably damaging	Het
Krt87	A	C	15: 101,332,485 (GRCm39)	F243V	possibly damaging	Het
Lyset	A	G	12: 102,711,088 (GRCm39)	T104A	probably benign	Het
Mast1	G	T	8: 85,662,352 (GRCm39)	P52Q	probably damaging	Het
Mcf2l	A	T	8: 13,047,277 (GRCm39)	Q211L	probably benign	Het
Mtrex	T	G	13: 113,019,680 (GRCm39)	D810A	probably benign	Het
Mtus2	C	A	5: 148,173,120 (GRCm39)	P968T	probably benign	Het
Mylk2	T	C	2: 152,764,073 (GRCm39)	*614R	probably null	Het
Myo15b	A	T	11: 115,774,535 (GRCm39)	E2049V	probably benign	Het
Myo6	A	T	9: 80,176,976 (GRCm39)	H581L	probably damaging	Het
Numb	A	T	12: 83,847,982 (GRCm39)	S241T	possibly damaging	Het
Or1j10	A	G	2: 36,267,355 (GRCm39)	D189G	possibly damaging	Het
Or4k77	A	T	2: 111,199,126 (GRCm39)	I50F	probably benign	Het
Or4x11	G	T	2: 89,868,138 (GRCm39)	V292L	probably benign	Het
Phldb2	A	G	16: 45,621,953 (GRCm39)	S676P	probably damaging	Het
Rttn	G	A	18: 89,066,541 (GRCm39)	E1196K	possibly damaging	Het
Slc13a3	G	A	2: 165,248,635 (GRCm39)	P548S	unknown	Het
Slc2a7	A	G	4: 150,244,467 (GRCm39)		probably benign	Het
Slc37a1	T	C	17: 31,547,135 (GRCm39)	S261P	possibly damaging	Het
Spryd3	T	A	15: 102,041,896 (GRCm39)	Y42F	possibly damaging	Het
Srrm3	A	G	5: 135,883,287 (GRCm39)		probably null	Het
Stambp	G	A	6: 83,533,372 (GRCm39)	T297I	probably damaging	Het
Sypl1	T	A	12: 33,017,668 (GRCm39)	Y129N	probably damaging	Het
Syt14	G	A	1: 192,662,843 (GRCm39)	P368S	possibly damaging	Het
Tas2r122	T	C	6: 132,688,227 (GRCm39)	D222G	probably damaging	Het
Tead2	C	A	7: 44,881,720 (GRCm39)	Y79*	probably null	Het
Uso1	T	C	5: 92,321,794 (GRCm39)	V229A	probably damaging	Het
Vmn1r238	A	G	18: 3,123,124 (GRCm39)	S97P	probably damaging	Het
Vmn2r82	T	A	10: 79,213,678 (GRCm39)	V88D	probably benign	Het
Vps29	A	G	5: 122,500,129 (GRCm39)	T85A	probably benign	Het
Wdr90	T	A	17: 26,076,194 (GRCm39)	S500C	probably damaging	Het
Zfp958	G	A	8: 4,675,967 (GRCm39)		probably null	Het

Other mutations in Epdr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00827:Epdr1	APN	13	19,778,679 (GRCm39)	missense	possibly damaging	0.94
IGL02120:Epdr1	APN	13	19,778,641 (GRCm39)	missense	probably damaging	1.00
ANU05:Epdr1	UTSW	13	19,778,814 (GRCm39)	missense	probably damaging	1.00
R0586:Epdr1	UTSW	13	19,778,715 (GRCm39)	missense	probably damaging	1.00
R1828:Epdr1	UTSW	13	19,778,773 (GRCm39)	nonsense	probably null
R3196:Epdr1	UTSW	13	19,778,815 (GRCm39)	missense	probably damaging	1.00
R4370:Epdr1	UTSW	13	19,803,576 (GRCm39)	missense	probably benign	0.01
R4508:Epdr1	UTSW	13	19,778,659 (GRCm39)	missense	probably benign	0.13
R5586:Epdr1	UTSW	13	19,778,718 (GRCm39)	missense	probably benign	0.20
R7274:Epdr1	UTSW	13	19,777,458 (GRCm39)	missense	possibly damaging	0.55
R8934:Epdr1	UTSW	13	19,777,350 (GRCm39)	missense	possibly damaging	0.92
R9373:Epdr1	UTSW	13	19,778,707 (GRCm39)	missense	possibly damaging	0.87
R9562:Epdr1	UTSW	13	19,778,821 (GRCm39)	missense	possibly damaging	0.70
R9565:Epdr1	UTSW	13	19,778,821 (GRCm39)	missense	possibly damaging	0.70

Posted On

2015-04-16