Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02995:Ppef2'

407106

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 #

IGL02995

Quality Score

Status

Chromosome

Chromosomal Location

92226679-92256278 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 92235900 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 450 (W450*)

Ref Sequence

ENSEMBL: ENSMUSP00000144157 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000031359
AA Change: W450*

SMART Domains

Protein: ENSMUSP00000031359
Gene: ENSMUSG00000029410
AA Change: W450*

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 null
Transcript: ENSMUST00000201130
AA Change: W450*

SMART Domains

Protein: ENSMUSP00000144157
Gene: ENSMUSG00000029410
AA Change: W450*

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

Meta Mutation Damage Score

0.9717

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	G	17: 48,163,288	V175A	probably benign	Het
Adam19	G	A	11: 46,136,349	R603Q	probably benign	Het
Adam25	T	C	8: 40,753,723	S9P	probably benign	Het
Akr1e1	T	A	13: 4,597,478		probably benign	Het
Ano8	C	T	8: 71,483,117	V286I	possibly damaging	Het
Baz1a	C	T	12: 54,900,447	R1139H	probably damaging	Het
Brca2	T	A	5: 150,529,488	L29H	probably damaging	Het
Btaf1	T	C	19: 36,981,135		probably benign	Het
C8b	T	A	4: 104,801,328		probably benign	Het
Cep295	A	T	9: 15,333,312	S1283T	probably damaging	Het
Cyp1a2	T	C	9: 57,677,228	*514W	probably null	Het
D2hgdh	G	T	1: 93,829,836	D158Y	probably damaging	Het
Dennd1b	G	A	1: 139,081,242	V228M	probably damaging	Het
Fgd6	T	A	10: 94,045,480	L732*	probably null	Het
Gm21969	G	A	4: 139,607,698	G348S	probably benign	Het
Gprc6a	C	T	10: 51,626,799	V323M	probably damaging	Het
Gzme	T	A	14: 56,118,709	M111L	probably damaging	Het
Iars2	G	T	1: 185,303,301	Q581K	probably benign	Het
Klra17	A	T	6: 129,868,684		probably null	Het
Klra5	A	T	6: 129,906,614	D93E	possibly damaging	Het
Lats2	T	C	14: 57,700,348	Y228C	probably damaging	Het
Lrrn3	T	C	12: 41,452,217	I700M	probably damaging	Het
Ltb	A	T	17: 35,195,372		probably benign	Het
Myo18b	T	C	5: 112,775,413		probably benign	Het
Olfr103	A	T	17: 37,336,709	H174Q	probably damaging	Het
Olfr323	A	G	11: 58,625,281	M255T	possibly damaging	Het
Olfr346	C	T	2: 36,688,632	P210L	possibly damaging	Het
Olfr395	G	A	11: 73,907,219	T91M	possibly damaging	Het
Olfr518	T	A	7: 108,880,991	E205V	probably damaging	Het
Pgap1	A	C	1: 54,493,350	I670S	probably benign	Het
Plxna4	A	T	6: 32,516,595	I362N	probably damaging	Het
Prr27	T	C	5: 87,842,816	S96P	probably benign	Het
Psip1	T	A	4: 83,463,717		probably benign	Het
Rgs3	T	A	4: 62,625,847	H285Q	possibly damaging	Het
Ror1	T	C	4: 100,334,525		probably benign	Het
Rps6ka5	C	A	12: 100,573,999		probably benign	Het
Sipa1l1	T	A	12: 82,357,331	Y533N	probably benign	Het
Snx6	T	C	12: 54,795,510		probably benign	Het
Tbc1d9	T	A	8: 83,269,059		probably null	Het
Tek	T	C	4: 94,739,640		probably benign	Het
Tor2a	T	A	2: 32,761,497	H241Q	possibly damaging	Het
Wnt5a	A	T	14: 28,522,914	I353F	probably benign	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
IGL02529:Ppef2	APN	5	92244737	missense	probably damaging	1.00
IGL02702:Ppef2	APN	5	92231819	missense	probably benign	0.01
IGL02992: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

2016-08-02