Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02991:Ppef2'

452915

Institutional Source

Beutler Lab

Gene Symbol

Ppef2

Ensembl Gene

ENSMUSG00000029410

Gene Name

protein phosphatase, EF hand calcium-binding domain 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02991 (G1)

Quality Score

157

Status

Validated

Chromosome

Chromosomal Location

92374538-92404137 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 92383759 bp (GRCm39)

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]

AlphaFold

O35385

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

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

95% (73/77)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416I08Rik	TCC	TCCC	X: 52,692,862 (GRCm39)		noncoding transcript	Het
Adam23	T	C	1: 63,586,978 (GRCm39)		probably null	Het
Aptx	C	A	4: 40,686,687 (GRCm39)	G199C	probably damaging	Het
Asap2	T	C	12: 21,299,294 (GRCm39)		probably benign	Het
Atp11b	A	G	3: 35,881,140 (GRCm39)	T566A	probably benign	Het
Bcas3	C	T	11: 85,348,713 (GRCm39)	Q202*	probably null	Het
Cacna1h	C	A	17: 25,610,286 (GRCm39)	R740L	possibly damaging	Het
Casp8	T	A	1: 58,866,438 (GRCm39)	N146K	probably benign	Het
Ccdc63	T	C	5: 122,246,275 (GRCm39)	M549V	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdh20	T	C	1: 104,861,972 (GRCm39)	S51P	probably benign	Het
Chd7	T	C	4: 8,828,398 (GRCm39)	M1113T	possibly damaging	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Crb1	ACC	AC	1: 139,164,822 (GRCm39)		probably null	Het
Crb1	CG	C	1: 139,164,824 (GRCm39)		probably null	Het
Cxcl11	C	T	5: 92,509,169 (GRCm39)	R28H	probably damaging	Het
Defb40	C	T	8: 19,025,119 (GRCm39)	C29Y	probably damaging	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Fen1	A	T	19: 10,178,026 (GRCm39)	D139E	probably benign	Het
Frem3	A	G	8: 81,395,511 (GRCm39)	E1846G	probably damaging	Het
Gria2	T	A	3: 80,615,116 (GRCm39)	K455*	probably null	Het
Hmcn1	A	T	1: 150,614,409 (GRCm39)	N1332K	possibly damaging	Het
Htr5b	C	T	1: 121,455,756 (GRCm39)	V55M	probably benign	Het
Ighv6-5	A	T	12: 114,380,315 (GRCm39)	N86K	probably benign	Het
Il4ra	T	C	7: 125,174,833 (GRCm39)	V347A	possibly damaging	Het
Itih5	A	G	2: 10,256,162 (GRCm39)	E876G	probably benign	Het
Itpkb	A	T	1: 180,155,279 (GRCm39)		probably benign	Het
Lbr	T	C	1: 181,649,117 (GRCm39)	Y334C	probably damaging	Het
Lrfn2	T	C	17: 49,377,732 (GRCm39)	L271P	probably damaging	Het
Lss	T	A	10: 76,379,745 (GRCm39)		probably benign	Het
Map1a	T	C	2: 121,132,091 (GRCm39)	V731A	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mob3b	T	A	4: 35,083,805 (GRCm39)	Q128L	probably benign	Het
Mog	T	C	17: 37,334,091 (GRCm39)	M1V	probably null	Het
Mrpl4	A	G	9: 20,919,901 (GRCm39)	Y284C	probably damaging	Het
Mtus2	T	G	5: 148,250,310 (GRCm39)	V310G	probably damaging	Het
Mup11	ACAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCA	4: 60,618,275 (GRCm39)		probably benign	Het
Odad4	A	G	11: 100,444,698 (GRCm39)	S285G	probably benign	Het
Or10g9	T	C	9: 39,911,698 (GRCm39)	Y275C	probably damaging	Het
Or8g55	T	A	9: 39,785,362 (GRCm39)	S264T	probably benign	Het
Orc3	T	G	4: 34,593,083 (GRCm39)	Q328P	probably damaging	Het
Otulinl	T	C	15: 27,658,388 (GRCm39)	S211G	possibly damaging	Het
Pcdhb20	G	T	18: 37,639,264 (GRCm39)	G597C	probably damaging	Het
Pdxdc1	A	G	16: 13,675,260 (GRCm39)	I334T	probably damaging	Het
Proz	G	A	8: 13,123,490 (GRCm39)	E254K	probably benign	Het
Psma6	T	C	12: 55,454,357 (GRCm39)		probably benign	Het
Rbm12	C	T	2: 155,937,480 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,776,192 (GRCm39)	V1115A	probably damaging	Het
Sfxn5	G	T	6: 85,266,190 (GRCm39)	N102K	possibly damaging	Het
Sgo2a	G	T	1: 58,054,514 (GRCm39)		probably benign	Het
Slc14a2	A	T	18: 78,249,049 (GRCm39)	M1K	probably null	Het
Spag5	T	A	11: 78,205,077 (GRCm39)	L621M	probably damaging	Het
Spata31	A	G	13: 65,068,533 (GRCm39)	Y227C	probably benign	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Supt6	T	C	11: 78,116,179 (GRCm39)	E728G	probably damaging	Het
Sympk	T	A	7: 18,764,502 (GRCm39)	L69Q	probably damaging	Het
Timd4	T	A	11: 46,732,974 (GRCm39)		probably benign	Het
Trh	G	A	6: 92,220,719 (GRCm39)	R48W	probably damaging	Het
Trip12	C	A	1: 84,716,536 (GRCm39)	D383Y	probably damaging	Het
Tspo2	T	A	17: 48,757,014 (GRCm39)	I23F	possibly damaging	Het
Tspyl5	A	G	15: 33,686,989 (GRCm39)	S319P	probably damaging	Het
Txlnb	A	G	10: 17,717,201 (GRCm39)	K403E	probably damaging	Het
Vmn2r34	C	A	7: 7,675,720 (GRCm39)	C556F	probably damaging	Het
Vps13c	C	A	9: 67,821,159 (GRCm39)	A1223E	probably damaging	Het

Other mutations in Ppef2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01066:Ppef2	APN	5	92,382,096 (GRCm39)	missense	probably damaging	1.00
IGL01105:Ppef2	APN	5	92,397,055 (GRCm39)	missense	possibly damaging	0.91
IGL01613:Ppef2	APN	5	92,383,679 (GRCm39)	missense	probably benign	0.01
IGL01793:Ppef2	APN	5	92,394,615 (GRCm39)	missense	probably damaging	1.00
IGL02529:Ppef2	APN	5	92,392,596 (GRCm39)	missense	probably damaging	1.00
IGL02702:Ppef2	APN	5	92,379,678 (GRCm39)	missense	probably benign	0.01
IGL02992:Ppef2	APN	5	92,383,759 (GRCm39)	nonsense	probably null
IGL02995:Ppef2	APN	5	92,383,759 (GRCm39)	nonsense	probably null
IGL02996:Ppef2	APN	5	92,383,759 (GRCm39)	nonsense	probably null
IGL03169:Ppef2	APN	5	92,383,759 (GRCm39)	nonsense	probably null
R0494:Ppef2	UTSW	5	92,400,952 (GRCm39)	splice site	probably benign
R0659:Ppef2	UTSW	5	92,378,368 (GRCm39)	missense	probably damaging	1.00
R0781:Ppef2	UTSW	5	92,392,689 (GRCm39)	missense	probably benign	0.39
R1162:Ppef2	UTSW	5	92,400,980 (GRCm39)	missense	probably benign	0.00
R1870:Ppef2	UTSW	5	92,398,371 (GRCm39)	missense	probably damaging	1.00
R2212:Ppef2	UTSW	5	92,376,581 (GRCm39)	missense	probably damaging	0.97
R2973:Ppef2	UTSW	5	92,386,953 (GRCm39)	missense	probably benign
R3412:Ppef2	UTSW	5	92,376,581 (GRCm39)	missense	probably damaging	0.97
R3413:Ppef2	UTSW	5	92,376,581 (GRCm39)	missense	probably damaging	0.97
R3745:Ppef2	UTSW	5	92,387,010 (GRCm39)	splice site	probably benign
R4878:Ppef2	UTSW	5	92,376,599 (GRCm39)	splice site	probably null
R5027:Ppef2	UTSW	5	92,382,150 (GRCm39)	missense	probably damaging	1.00
R5156:Ppef2	UTSW	5	92,392,461 (GRCm39)	critical splice donor site	probably null
R5316:Ppef2	UTSW	5	92,383,670 (GRCm39)	missense	probably benign	0.00
R5590:Ppef2	UTSW	5	92,386,998 (GRCm39)	missense	probably damaging	0.99
R5773:Ppef2	UTSW	5	92,398,420 (GRCm39)	missense	probably damaging	1.00
R5881:Ppef2	UTSW	5	92,398,388 (GRCm39)	nonsense	probably null
R6032:Ppef2	UTSW	5	92,378,383 (GRCm39)	missense	probably benign	0.23
R6032:Ppef2	UTSW	5	92,378,383 (GRCm39)	missense	probably benign	0.23
R6182:Ppef2	UTSW	5	92,374,925 (GRCm39)	missense	probably damaging	1.00
R6335:Ppef2	UTSW	5	92,383,613 (GRCm39)	missense	probably damaging	1.00
R6645:Ppef2	UTSW	5	92,378,320 (GRCm39)	missense	probably benign	0.02
R7448:Ppef2	UTSW	5	92,376,563 (GRCm39)	missense	probably damaging	1.00
R7576:Ppef2	UTSW	5	92,400,993 (GRCm39)	missense	possibly damaging	0.87
R7968:Ppef2	UTSW	5	92,397,022 (GRCm39)	missense	probably damaging	0.99
R7988:Ppef2	UTSW	5	92,386,841 (GRCm39)	missense	probably benign	0.00
R8200:Ppef2	UTSW	5	92,393,251 (GRCm39)	missense	probably benign	0.13
R8212:Ppef2	UTSW	5	92,376,524 (GRCm39)	missense	possibly damaging	0.87
R9687:Ppef2	UTSW	5	92,386,746 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GAGCCTTTTGGAATCACTCCTG -3'
(R):5'- GGGTCAAATATTGATTACGTAGGC -3'

Sequencing Primer
(F):5'- TGACACAGATACAGAGACAGCTGC -3'
(R):5'- GATTACGTAGGCATTTTTCACTTTG -3'

Posted On

2017-01-24