Mutagenetix > Incidental Mutation

Incidental Mutation 'R9687:Ppef2'

728902

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9687 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92374538-92404137 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92386746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 397 (D397V)

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: D397V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000031359
Gene: ENSMUSG00000029410
AA Change: D397V

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: D397V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000144157
Gene: ENSMUSG00000029410
AA Change: D397V

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

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,839,249 (GRCm39)	L446P	probably damaging	Het
Abcc9	T	C	6: 142,578,889 (GRCm39)	T927A	probably benign	Het
Abraxas2	A	G	7: 132,482,577 (GRCm39)	T258A	probably benign	Het
Akna	A	T	4: 63,292,674 (GRCm39)	C1078*	probably null	Het
Arhgap24	T	A	5: 102,994,022 (GRCm39)	F34L	probably benign	Het
Cpa5	C	T	6: 30,614,041 (GRCm39)	T61I	probably benign	Het
Crebrf	A	G	17: 26,982,601 (GRCm39)	*654W	probably null	Het
Dchs1	C	A	7: 105,407,191 (GRCm39)	R2134L	probably damaging	Het
Dcps	T	C	9: 35,035,978 (GRCm39)	N303D	probably damaging	Het
Ddhd1	C	T	14: 45,848,190 (GRCm39)	E527K	probably damaging	Het
Dnah14	T	A	1: 181,425,978 (GRCm39)	M174K	probably benign	Het
Ehd1	A	G	19: 6,348,330 (GRCm39)	D436G		Het
Entrep1	A	G	19: 23,957,029 (GRCm39)	I327T	probably damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Etv1	T	C	12: 38,911,361 (GRCm39)	Y396H	probably damaging	Het
Fbxo11	A	G	17: 88,316,494 (GRCm39)	I293T		Het
Gcfc2	T	A	6: 81,918,323 (GRCm39)	S338T	probably damaging	Het
Gm10272	T	C	10: 77,542,764 (GRCm39)	V102A	possibly damaging	Het
Gm11110	T	C	17: 57,410,439 (GRCm39)	T20A	unknown	Het
Gna14	G	A	19: 16,582,350 (GRCm39)	R206Q		Het
Gpm6a	T	C	8: 55,503,209 (GRCm39)	Y153H	possibly damaging	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
H2-M10.6	G	A	17: 37,125,147 (GRCm39)	V313I	probably benign	Het
Igkv8-19	T	C	6: 70,318,005 (GRCm39)	I74V	probably benign	Het
Kif24	A	G	4: 41,428,546 (GRCm39)	L138P	probably damaging	Het
Kif26a	A	G	12: 112,143,625 (GRCm39)	E1293G	probably damaging	Het
Lrp1	A	C	10: 127,402,562 (GRCm39)	L2203R	probably damaging	Het
Ms4a6b	A	G	19: 11,497,806 (GRCm39)	D35G	possibly damaging	Het
Myo1h	A	T	5: 114,458,769 (GRCm39)	D184V		Het
Ncdn	G	A	4: 126,642,467 (GRCm39)	R397W	probably damaging	Het
Ncor1	A	T	11: 62,260,193 (GRCm39)	I519N	possibly damaging	Het
Obsl1	A	G	1: 75,479,670 (GRCm39)	V575A	probably damaging	Het
Or2y15	T	C	11: 49,350,518 (GRCm39)	F4S	probably benign	Het
Or5m8	G	T	2: 85,822,220 (GRCm39)	V20L	probably benign	Het
Or7a35	T	A	10: 78,853,843 (GRCm39)	I229N	probably damaging	Het
Osbpl5	A	G	7: 143,247,598 (GRCm39)	Y747H	possibly damaging	Het
Pcdh18	T	A	3: 49,711,036 (GRCm39)	D93V	probably damaging	Het
Ppfia4	G	A	1: 134,245,694 (GRCm39)	T620I	probably benign	Het
Ppp1r9a	T	C	6: 4,905,978 (GRCm39)	S178P	probably damaging	Het
Ptchd4	A	G	17: 42,813,467 (GRCm39)	Y456C	probably damaging	Het
Pxk	A	G	14: 8,151,567 (GRCm38)	I461V	possibly damaging	Het
Rab18	T	A	18: 6,784,622 (GRCm39)	N104K	probably benign	Het
Sars1	A	G	3: 108,343,221 (GRCm39)	L90P	probably benign	Het
Scaf8	T	A	17: 3,221,410 (GRCm39)	I299N	unknown	Het
Sh3bp2	C	T	5: 34,716,977 (GRCm39)	P463S	probably benign	Het
Slc12a3	A	G	8: 95,075,208 (GRCm39)	N734S	possibly damaging	Het
Slc12a7	G	T	13: 73,938,796 (GRCm39)	R191L	probably damaging	Het
Slc7a12	A	G	3: 14,545,960 (GRCm39)	Y35C	possibly damaging	Het
Spmip2	G	A	3: 79,337,299 (GRCm39)	D36N	possibly damaging	Het
Susd4	A	G	1: 182,722,762 (GRCm39)		probably null	Het
Taar7f	G	A	10: 23,925,727 (GRCm39)	R107K	probably benign	Het
Tarm1	T	C	7: 3,544,457 (GRCm39)	T237A	probably benign	Het
Tshr	C	A	12: 91,504,439 (GRCm39)	A459E	probably damaging	Het
Tubgcp5	G	T	7: 55,475,327 (GRCm39)		probably null	Het
Unc13b	T	C	4: 43,174,920 (GRCm39)	V1916A	unknown	Het
Unc45b	A	G	11: 82,810,562 (GRCm39)	D274G	probably damaging	Het
Vmn1r230	T	A	17: 21,067,604 (GRCm39)	Y264*	probably null	Het
Vmn2r109	G	T	17: 20,775,332 (GRCm39)	Q132K		Het
Zbtb20	A	G	16: 43,430,160 (GRCm39)	S151G	possibly damaging	Het
Zbtb22	A	C	17: 34,136,850 (GRCm39)	T332P	probably damaging	Het
Zc3h6	A	G	2: 128,859,281 (GRCm39)	D1104G	probably damaging	Het
Zfp748	A	G	13: 67,690,471 (GRCm39)	V263A	probably benign	Het
Zhx3	A	C	2: 160,623,678 (GRCm39)	V163G	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- AGGAAACCACCTGCATTTATACAG -3'
(R):5'- TGGACAGAAACCTACTCCGTG -3'

Sequencing Primer
(F):5'- ATACAGGAGTTTTGATCTCTTCGC -3'
(R):5'- GACAGAAACCTACTCCGTGGTTTC -3'

Posted On

2022-10-06