Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02529:Ppef2'

297230

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppef2

Ensembl Gene

ENSMUSG00000029410

Gene Name

protein phosphatase, EF hand calcium-binding domain 2

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02529

Quality Score

Status

Chromosome

Chromosomal Location

92226679-92256278 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92244737 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 267 (I267T)

Ref Sequence

ENSEMBL: ENSMUSP00000144157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031359] [ENSMUST00000201130]

Predicted Effect

probably damaging
Transcript: ENSMUST00000031359
AA Change: I267T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031359
Gene: ENSMUSG00000029410
AA Change: I267T

Domain	Start	End	E-Value	Type
IQ	18	40	3.48e-1	SMART
PP2Ac	141	544	1.97e-118	SMART
EFh	576	604	3.25e1	SMART
EFh	660	688	5.44e-3	SMART
EFh	700	728	1.67e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000201130
AA Change: I267T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144157
Gene: ENSMUSG00000029410
AA Change: I267T

Domain	Start	End	E-Value	Type
IQ	18	40	3.48e-1	SMART
PP2Ac	141	544	1.97e-118	SMART
EFh	576	604	3.25e1	SMART
EFh	660	688	5.44e-3	SMART
EFh	700	728	1.67e0	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein, which is expressed specifically in photoreceptors and the pineal, has been suggested to play a role in the visual system. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation appear to be phenotypically normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,661,233	H925L	probably benign	Het
Agpat5	T	A	8: 18,881,754	Y297N	possibly damaging	Het
Apobec3	C	T	15: 79,897,687		probably benign	Het
Atpaf1	C	A	4: 115,791,269	A161E	probably damaging	Het
Bnc1	A	T	7: 81,977,368	D91E	probably damaging	Het
Capg	G	A	6: 72,555,846	V98I	probably benign	Het
Ccdc7b	C	T	8: 129,178,225	L115F	possibly damaging	Het
Ces2a	T	A	8: 104,737,219		probably benign	Het
Cldn6	T	G	17: 23,681,317	V85G	probably damaging	Het
Clec2e	T	C	6: 129,098,496		probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dhx38	T	C	8: 109,559,013	E396G	probably benign	Het
Dock8	A	T	19: 25,100,926	K532*	probably null	Het
Efr3b	C	T	12: 3,983,391	V139I	probably benign	Het
Gmip	G	A	8: 69,816,789	G537E	probably damaging	Het
Hacd1	T	C	2: 14,045,202	H64R	probably damaging	Het
Hdac3	G	T	18: 37,944,132	Q230K	probably benign	Het
Htt	C	T	5: 34,819,043		probably benign	Het
Il18r1	A	G	1: 40,487,059	D255G	possibly damaging	Het
Krt82	T	A	15: 101,550,396	R70*	probably null	Het
Krt9	G	T	11: 100,189,966	H353Q	probably damaging	Het
Kyat3	T	C	3: 142,720,474	I57T	probably benign	Het
L1td1	A	G	4: 98,737,421	K618E	probably benign	Het
Limch1	C	A	5: 67,002,613	N617K	possibly damaging	Het
Lsm8	T	C	6: 18,851,652	F34S	probably damaging	Het
Man2a2	G	A	7: 80,359,640	A822V	probably damaging	Het
Mmrn2	C	A	14: 34,398,613	A480E	possibly damaging	Het
Mthfd1	A	G	12: 76,303,709	I474V	probably benign	Het
Mycl	A	G	4: 122,996,977	K152R	probably damaging	Het
Numa1	A	G	7: 101,999,953		probably null	Het
Olfr474	G	T	7: 107,955,216	V192F	possibly damaging	Het
Otog	A	C	7: 46,259,957	D617A	probably damaging	Het
Ptprq	A	G	10: 107,635,365	Y1392H	probably benign	Het
Rasgrp3	G	T	17: 75,525,102	K639N	possibly damaging	Het
Rgs19	C	T	2: 181,689,150	R203H	probably benign	Het
Scnn1g	C	A	7: 121,742,446		probably benign	Het
Tmem181b-ps	T	C	17: 6,466,921		noncoding transcript	Het
Vmn2r118	A	G	17: 55,610,870	V214A	possibly damaging	Het
Zfp811	T	C	17: 32,797,815	Y417C	probably damaging	Het

Other mutations in Ppef2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01066:Ppef2	APN	5	92234237	missense	probably damaging	1.00
IGL01105:Ppef2	APN	5	92249196	missense	possibly damaging	0.91
IGL01613:Ppef2	APN	5	92235820	missense	probably benign	0.01
IGL01793:Ppef2	APN	5	92246756	missense	probably damaging	1.00
IGL02702:Ppef2	APN	5	92231819	missense	probably benign	0.01
IGL02992:Ppef2	APN	5	92235900	nonsense	probably null
IGL02995:Ppef2	APN	5	92235900	nonsense	probably null
IGL02996:Ppef2	APN	5	92235900	nonsense	probably null
IGL03169:Ppef2	APN	5	92235900	nonsense	probably null
IGL02991:Ppef2	UTSW	5	92235900	nonsense	probably null
R0494:Ppef2	UTSW	5	92253093	splice site	probably benign
R0659:Ppef2	UTSW	5	92230509	missense	probably damaging	1.00
R0781:Ppef2	UTSW	5	92244830	missense	probably benign	0.39
R1162:Ppef2	UTSW	5	92253121	missense	probably benign	0.00
R1870:Ppef2	UTSW	5	92250512	missense	probably damaging	1.00
R2212:Ppef2	UTSW	5	92228722	missense	probably damaging	0.97
R2973:Ppef2	UTSW	5	92239094	missense	probably benign
R3412:Ppef2	UTSW	5	92228722	missense	probably damaging	0.97
R3413:Ppef2	UTSW	5	92228722	missense	probably damaging	0.97
R3745:Ppef2	UTSW	5	92239151	splice site	probably benign
R4878:Ppef2	UTSW	5	92228740	splice site	probably null
R5027:Ppef2	UTSW	5	92234291	missense	probably damaging	1.00
R5156:Ppef2	UTSW	5	92244602	critical splice donor site	probably null
R5316:Ppef2	UTSW	5	92235811	missense	probably benign	0.00
R5590:Ppef2	UTSW	5	92239139	missense	probably damaging	0.99
R5773:Ppef2	UTSW	5	92250561	missense	probably damaging	1.00
R5881:Ppef2	UTSW	5	92250529	nonsense	probably null
R6032:Ppef2	UTSW	5	92230524	missense	probably benign	0.23
R6032:Ppef2	UTSW	5	92230524	missense	probably benign	0.23
R6182:Ppef2	UTSW	5	92227066	missense	probably damaging	1.00
R6335:Ppef2	UTSW	5	92235754	missense	probably damaging	1.00
R6645:Ppef2	UTSW	5	92230461	missense	probably benign	0.02
R7448:Ppef2	UTSW	5	92228704	missense	probably damaging	1.00
R7576:Ppef2	UTSW	5	92253134	missense	possibly damaging	0.87
R7968:Ppef2	UTSW	5	92249163	missense	probably damaging	0.99
R7988:Ppef2	UTSW	5	92238982	missense	probably benign	0.00
R8200:Ppef2	UTSW	5	92245392	missense	probably benign	0.13
R8212:Ppef2	UTSW	5	92228665	missense	possibly damaging	0.87

Posted On

2015-04-16