Mutagenetix > Incidental Mutation

Incidental Mutation 'R7968:Ppef2'

650455

Institutional Source

Beutler Lab

Gene Symbol

Ppef2

Ensembl Gene

ENSMUSG00000029410

Gene Name

protein phosphatase, EF hand calcium-binding domain 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7968 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92226679-92256278 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 92249163 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 118 (R118C)

Ref Sequence

ENSEMBL: ENSMUSP00000031359 (fasta)

Gene Model

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

AlphaFold

O35385

Predicted Effect

probably damaging
Transcript: ENSMUST00000031359
AA Change: R118C

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031359
Gene: ENSMUSG00000029410
AA Change: R118C

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: R118C

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144157
Gene: ENSMUSG00000029410
AA Change: R118C

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: 98.9%

Validation Efficiency

100% (47/47)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,945,460	T35A		Het
Adamts16	A	C	13: 70,738,582	S1030A	probably benign	Het
Adgrv1	A	T	13: 81,440,225	V4414E	possibly damaging	Het
Aff4	C	T	11: 53,409,348	T1026I	probably damaging	Het
Arfgef1	T	C	1: 10,172,920	Y1065C	probably damaging	Het
Arhgef3	G	T	14: 27,386,113	D192Y	probably damaging	Het
Arhgef3	G	A	14: 27,394,105	R268Q	probably damaging	Het
Atp6v0e	T	A	17: 26,694,911		probably null	Het
Cenpc1	A	G	5: 86,033,692	Y605H	probably benign	Het
Cftr	T	C	6: 18,226,049	V332A	probably benign	Het
Csmd2	A	G	4: 128,197,325	H219R		Het
Csnk1g3	C	T	18: 53,895,654		probably benign	Het
Cyp4f17	T	C	17: 32,524,142	V263A	possibly damaging	Het
Dao	AGG	AG	5: 114,015,209		probably benign	Het
Evl	C	T	12: 108,681,524	R295*	probably null	Het
Fam189a2	G	T	19: 23,984,727	T304K	probably damaging	Het
Gm34653	A	G	2: 34,838,245	N19D	probably damaging	Het
Gstm4	A	T	3: 108,044,361	M35K	probably damaging	Het
Kcna2	A	G	3: 107,105,144	Y347C	possibly damaging	Het
Kcnh7	G	A	2: 62,736,100	T829M	probably damaging	Het
Kcnu1	T	C	8: 25,910,870	V682A	probably benign	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,436,913		probably benign	Het
Kera	A	G	10: 97,608,959	E60G	possibly damaging	Het
Letm2	C	T	8: 25,593,750	G155D	probably damaging	Het
Lrfn4	G	A	19: 4,613,315	A397V	probably benign	Het
Lrp4	A	G	2: 91,494,079	Q1253R	possibly damaging	Het
Mob1a	T	A	6: 83,338,305	M145K	probably benign	Het
Nab1	A	G	1: 52,490,136	C201R	probably damaging	Het
Nlrp9b	A	G	7: 20,028,568	E710G	probably benign	Het
Oas2	A	G	5: 120,738,372	V502A	probably benign	Het
Olfr385	T	C	11: 73,589,328	S137G	probably benign	Het
Olfr652	A	T	7: 104,564,650	H143L	probably benign	Het
Olfr653	T	A	7: 104,580,388	C247*	probably null	Het
Parg	A	T	14: 32,214,370	H494L	possibly damaging	Het
Phf20	T	A	2: 156,293,544	D600E	probably benign	Het
Ptprz1	T	A	6: 22,959,676	N57K	probably damaging	Het
Rrbp1	A	T	2: 143,990,161	S29T	probably damaging	Het
Sema3g	C	A	14: 31,220,648	R69S	probably damaging	Het
Slc12a4	G	A	8: 105,951,605	R319W	possibly damaging	Het
Slc4a3	A	G	1: 75,551,363	T419A	probably benign	Het
Smc3	T	C	19: 53,623,218		probably null	Het
Sntg1	C	T	1: 8,465,536	W288*	probably null	Het
Synpo2l	G	T	14: 20,666,802		probably null	Het
Tap1	A	G	17: 34,194,912	I634V	probably damaging	Het
Tmem25	A	G	9: 44,795,686	S278P	probably benign	Het
Togaram2	T	C	17: 71,717,433	S871P	probably benign	Het
Trim37	T	C	11: 87,149,353	V225A	possibly damaging	Het
Tubg1	G	T	11: 101,124,028	A199S	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
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
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
R9687:Ppef2	UTSW	5	92238887	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TAGCTACCTGCAGGCTGAAC -3'
(R):5'- AGCATTGACGGTCCCTCAAG -3'

Sequencing Primer
(F):5'- AAGGTTCCGCTCTTAGAAGC -3'
(R):5'- GTCCCTCAAGGTTGGTTCCTAAG -3'

Posted On

2020-09-15