Mutagenetix > Incidental Mutation

Incidental Mutation 'R7988:Ppef2'

651582

Institutional Source

Beutler Lab

Gene Symbol

Ppef2

Ensembl Gene

ENSMUSG00000029410

Gene Name

protein phosphatase, EF hand calcium-binding domain 2

Synonyms

MMRRC Submission

046029-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7988 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92374538-92404137 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92386841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 365 (F365L)

Ref Sequence

ENSEMBL: ENSMUSP00000031359 (fasta)

Gene Model

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

AlphaFold

O35385

Predicted Effect

probably benign
Transcript: ENSMUST00000031359
AA Change: F365L

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

SMART Domains

Protein: ENSMUSP00000031359
Gene: ENSMUSG00000029410
AA Change: F365L

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 benign
Transcript: ENSMUST00000201130
AA Change: F365L

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

SMART Domains

Protein: ENSMUSP00000144157
Gene: ENSMUSG00000029410
AA Change: F365L

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	C	T	6: 72,324,635 (GRCm39)	T56M	probably damaging	Het
Adamtsl5	C	T	10: 80,181,372 (GRCm39)	S36N	probably benign	Het
Adgrf5	A	T	17: 43,750,704 (GRCm39)		probably benign	Het
Ago1	A	G	4: 126,354,210 (GRCm39)	F200S	probably damaging	Het
Akr1cl	T	C	1: 65,063,865 (GRCm39)	D108G	possibly damaging	Het
Aopep	A	G	13: 63,208,954 (GRCm39)	D357G	probably benign	Het
Arhgef3	A	T	14: 27,123,743 (GRCm39)	D468V	probably benign	Het
Aspn	T	C	13: 49,705,353 (GRCm39)	C72R	possibly damaging	Het
Baz2b	T	C	2: 59,792,485 (GRCm39)	T548A	possibly damaging	Het
Birc6	G	A	17: 74,906,368 (GRCm39)		probably null	Het
Btnl2	A	T	17: 34,577,249 (GRCm39)	T135S	possibly damaging	Het
Ccnl1	T	A	3: 65,865,282 (GRCm39)	I90F	possibly damaging	Het
Ccnt1	T	C	15: 98,463,024 (GRCm39)		probably null	Het
Cemip	C	A	7: 83,652,616 (GRCm39)		probably benign	Het
Cfap45	A	G	1: 172,357,501 (GRCm39)	D85G	probably damaging	Het
Cfap54	T	A	10: 92,737,941 (GRCm39)	D2319V	unknown	Het
Cma1	T	C	14: 56,181,989 (GRCm39)	M14V	possibly damaging	Het
Cmtm1	T	C	8: 105,036,774 (GRCm39)		probably benign	Het
Col27a1	A	G	4: 63,249,559 (GRCm39)	H1738R	unknown	Het
Colq	T	A	14: 31,275,794 (GRCm39)	D41V	probably damaging	Het
Cubn	T	C	2: 13,337,166 (GRCm39)	T2437A	probably benign	Het
Dnah14	A	G	1: 181,611,139 (GRCm39)	D3755G	probably damaging	Het
Eprs1	A	G	1: 185,150,545 (GRCm39)	Y1349C	probably damaging	Het
Eps8	C	T	6: 137,505,569 (GRCm39)	R53Q	possibly damaging	Het
Fbf1	T	C	11: 116,043,594 (GRCm39)	D405G	probably benign	Het
Fen1	C	T	19: 10,177,674 (GRCm39)	E257K	possibly damaging	Het
Gstm7	A	T	3: 107,834,271 (GRCm39)	M198K	possibly damaging	Het
Hook3	A	T	8: 26,563,675 (GRCm39)	S190T	probably benign	Het
Htra4	A	C	8: 25,520,526 (GRCm39)		probably null	Het
Ighv1-15	T	C	12: 114,621,116 (GRCm39)	I70V	probably benign	Het
Ikzf4	T	A	10: 128,470,324 (GRCm39)	N452Y	probably damaging	Het
Insyn2a	T	G	7: 134,519,427 (GRCm39)	K368Q	probably damaging	Het
Iqcf5	T	A	9: 106,393,020 (GRCm39)	N92K	possibly damaging	Het
Itk	A	G	11: 46,246,661 (GRCm39)	Y186H	probably damaging	Het
Klhdc10	T	C	6: 30,446,690 (GRCm39)	S282P	probably benign	Het
Klhl18	T	A	9: 110,305,577 (GRCm39)	E29V	possibly damaging	Het
Ky	T	C	9: 102,402,614 (GRCm39)	S140P	probably damaging	Het
Lmntd2	T	C	7: 140,793,550 (GRCm39)	E112G	unknown	Het
Lrrc36	C	A	8: 106,178,718 (GRCm39)	D304E	possibly damaging	Het
Macf1	A	T	4: 123,400,273 (GRCm39)	F674Y	probably damaging	Het
Notch1	C	T	2: 26,361,013 (GRCm39)	D1111N	probably benign	Het
Osbpl8	T	G	10: 111,107,941 (GRCm39)	N312K	possibly damaging	Het
Otogl	C	T	10: 107,731,637 (GRCm39)	C168Y	probably damaging	Het
Phldb2	T	G	16: 45,645,934 (GRCm39)	T171P	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Ryr1	G	A	7: 28,795,596 (GRCm39)	T1105I	probably benign	Het
Sclt1	T	A	3: 41,617,889 (GRCm39)	*29L	probably null	Het
Scn11a	T	C	9: 119,594,503 (GRCm39)	K1297E	probably damaging	Het
Serpinb9c	T	A	13: 33,334,262 (GRCm39)	Y288F	probably benign	Het
Setd1a	T	A	7: 127,385,366 (GRCm39)	M691K	probably benign	Het
Sftpc	T	C	14: 70,760,059 (GRCm39)	E66G	probably damaging	Het
Spata31h1	T	C	10: 82,131,934 (GRCm39)	I359V	probably benign	Het
Thnsl2	T	C	6: 71,118,303 (GRCm39)	T42A	probably benign	Het
Tram1	T	C	1: 13,640,199 (GRCm39)	D285G	probably benign	Het
Ttn	G	A	2: 76,675,374 (GRCm39)	P11137L	unknown	Het
Ttn	C	A	2: 76,727,103 (GRCm39)	V5821F	unknown	Het
Ttn	A	T	2: 76,566,584 (GRCm39)	I28103K	probably damaging	Het
Usp38	T	A	8: 81,740,945 (GRCm39)	M41L	probably benign	Het
Zcwpw1	T	G	5: 137,815,753 (GRCm39)	Y419D	possibly damaging	Het
Zfp407	G	A	18: 84,577,525 (GRCm39)	A1196V	possibly damaging	Het
Zfp446	T	A	7: 12,712,970 (GRCm39)	S103T	possibly 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
IGL02991:Ppef2	UTSW	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
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'- AACACAGTCAGCATCTGGGG -3'
(R):5'- CCCAGAACAGTAGTCTGAAAGG -3'

Sequencing Primer
(F):5'- TCAGCATCTGGGGCCAAAG -3'
(R):5'- ACAGTAGTCTGAAAGGACTTACC -3'

Posted On

2020-09-15