Mutagenetix > Incidental Mutation

Incidental Mutation 'R0494:Ppef2'

42620

Institutional Source

Beutler Lab

Gene Symbol

Ppef2

Ensembl Gene

ENSMUSG00000029410

Gene Name

protein phosphatase, EF hand calcium-binding domain 2

Synonyms

MMRRC Submission

038691-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0494 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

92374538-92404137 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 92400952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031359] [ENSMUST00000113102] [ENSMUST00000201130]

AlphaFold

O35385

Predicted Effect

probably benign
Transcript: ENSMUST00000031359

SMART Domains

Protein: ENSMUSP00000031359
Gene: ENSMUSG00000029410

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: ENSMUST00000113102

SMART Domains

Protein: ENSMUSP00000108726
Gene: ENSMUSG00000029413

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
Pfam:NAAA-beta	36	127	7.3e-26	PFAM
Pfam:CBAH	131	362	9e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159732

Predicted Effect

probably benign
Transcript: ENSMUST00000201130

SMART Domains

Protein: ENSMUSP00000144157
Gene: ENSMUSG00000029410

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: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

97% (109/112)

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	T	C	11: 84,402,339 (GRCm39)	I116V	probably benign	Het
Abhd18	T	C	3: 40,871,123 (GRCm39)	F94S	probably damaging	Het
Adam28	T	A	14: 68,868,241 (GRCm39)		probably benign	Het
Afg2a	G	C	3: 37,486,312 (GRCm39)	D345H	possibly damaging	Het
Amn1	A	T	6: 149,086,634 (GRCm39)		probably benign	Het
Arhgap32	T	C	9: 32,170,199 (GRCm39)	V993A	probably damaging	Het
Arhgap33	A	T	7: 30,223,921 (GRCm39)	S703T	probably damaging	Het
Arhgef1	T	C	7: 24,618,785 (GRCm39)		probably benign	Het
Atg2a	A	G	19: 6,303,407 (GRCm39)	Y1083C	probably damaging	Het
Atp2a3	T	C	11: 72,872,731 (GRCm39)	F760L	probably damaging	Het
B9d1	A	G	11: 61,403,271 (GRCm39)		probably benign	Het
Batf	C	T	12: 85,733,636 (GRCm39)		probably benign	Het
BC051019	T	A	7: 109,317,182 (GRCm39)	Y170F	probably benign	Het
Bphl	T	C	13: 34,221,754 (GRCm39)	*37Q	probably null	Het
Cab39l	T	C	14: 59,737,008 (GRCm39)	S43P	probably damaging	Het
Cad	A	G	5: 31,234,856 (GRCm39)		probably benign	Het
Cct4	T	G	11: 22,946,014 (GRCm39)	S119A	probably benign	Het
Cd163	G	A	6: 124,288,408 (GRCm39)	V280M	probably damaging	Het
Cd86	A	G	16: 36,438,999 (GRCm39)		probably benign	Het
Cdh23	G	A	10: 60,152,375 (GRCm39)		probably benign	Het
Cdhr5	A	G	7: 140,852,431 (GRCm39)	F145S	probably damaging	Het
Cdt1	T	C	8: 123,298,799 (GRCm39)	S479P	possibly damaging	Het
Ces2g	T	C	8: 105,693,199 (GRCm39)	V372A	probably benign	Het
Chrna3	T	C	9: 54,929,562 (GRCm39)	D92G	probably damaging	Het
Cndp1	A	G	18: 84,637,658 (GRCm39)	S359P	probably benign	Het
Cops4	A	G	5: 100,676,528 (GRCm39)	Q93R	probably damaging	Het
Dgka	G	C	10: 128,556,952 (GRCm39)		probably benign	Het
Dmp1	A	T	5: 104,360,074 (GRCm39)	D250V	probably damaging	Het
Dnajb2	C	T	1: 75,216,278 (GRCm39)		probably benign	Het
Dock9	T	C	14: 121,899,996 (GRCm39)	T113A	possibly damaging	Het
Egln3	T	A	12: 54,250,107 (GRCm39)	I81F	probably benign	Het
Elapor2	G	A	5: 9,470,723 (GRCm39)		probably null	Het
Elovl5	T	C	9: 77,868,199 (GRCm39)	V37A	probably benign	Het
Esco1	A	T	18: 10,594,940 (GRCm39)	N115K	probably benign	Het
Fat1	A	T	8: 45,403,579 (GRCm39)	N110I	probably damaging	Het
Fezf1	T	A	6: 23,246,054 (GRCm39)	K370N	probably damaging	Het
Galnt18	T	A	7: 111,153,771 (GRCm39)	K284N	probably damaging	Het
Glt8d1	C	A	14: 30,733,580 (GRCm39)	T355K	possibly damaging	Het
Gm17455	G	A	10: 60,239,014 (GRCm39)	R93H	possibly damaging	Het
Gng8	T	A	7: 16,629,213 (GRCm39)	D46E	probably benign	Het
Gpx4	T	C	10: 79,892,011 (GRCm39)		probably benign	Het
Grk2	A	T	19: 4,341,347 (GRCm39)	N189K	probably damaging	Het
Grm5	T	C	7: 87,779,989 (GRCm39)	V1143A	probably benign	Het
Hibch	A	G	1: 52,942,055 (GRCm39)	E237G	possibly damaging	Het
Hipk2	C	T	6: 38,706,924 (GRCm39)	A682T	probably benign	Het
Hmcn1	G	T	1: 150,608,543 (GRCm39)		probably benign	Het
Htt	A	G	5: 34,979,188 (GRCm39)	D857G	possibly damaging	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Igsf8	A	G	1: 172,146,265 (GRCm39)	E421G	probably benign	Het
Kif26a	T	A	12: 112,145,905 (GRCm39)		probably null	Het
Klhl26	T	C	8: 70,904,251 (GRCm39)	Y519C	probably damaging	Het
Lamc1	A	C	1: 153,122,682 (GRCm39)		probably null	Het
Mical3	A	T	6: 120,936,162 (GRCm39)	S1455T	possibly damaging	Het
Mitf	G	A	6: 97,971,390 (GRCm39)	G186S	probably benign	Het
Ms4a15	G	A	19: 10,958,722 (GRCm39)		probably benign	Het
Myo5b	A	G	18: 74,787,038 (GRCm39)	E481G	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Nbeal2	C	A	9: 110,456,255 (GRCm39)	V1686L	probably damaging	Het
Nedd4l	T	G	18: 65,306,092 (GRCm39)	S335A	possibly damaging	Het
Nos1	A	T	5: 118,043,539 (GRCm39)	N605Y	probably damaging	Het
Nyx	C	A	X: 13,353,508 (GRCm39)	T454K	probably benign	Het
Or52n2	A	G	7: 104,542,478 (GRCm39)	L119P	probably damaging	Het
Or8g55	T	A	9: 39,784,698 (GRCm39)	N42K	probably damaging	Het
Pcdhb12	T	A	18: 37,571,148 (GRCm39)	F765I	probably benign	Het
Pex3	C	T	10: 13,403,532 (GRCm39)	G330R	probably damaging	Het
Pfkfb1	T	C	X: 149,417,609 (GRCm39)	Y339H	probably damaging	Het
Pias1	G	A	9: 62,794,593 (GRCm39)	Q26*	probably null	Het
Pik3cg	C	A	12: 32,254,545 (GRCm39)	V481L	possibly damaging	Het
Plcg2	C	T	8: 118,282,843 (GRCm39)	T108M	probably damaging	Het
Pon2	G	A	6: 5,267,059 (GRCm39)		probably benign	Het
Pramel21	G	T	4: 143,342,726 (GRCm39)	V278F	probably benign	Het
Ptpn22	A	G	3: 103,767,771 (GRCm39)	K18E	probably damaging	Het
Pum2	C	T	12: 8,771,736 (GRCm39)	Q360*	probably null	Het
Rab10	A	C	12: 3,302,723 (GRCm39)		probably null	Het
Ranbp2	T	G	10: 58,303,254 (GRCm39)	S809A	possibly damaging	Het
Rbms2	A	G	10: 127,969,539 (GRCm39)	V348A	probably benign	Het
Rnf213	A	G	11: 119,316,838 (GRCm39)	E988G	possibly damaging	Het
Rnf213	A	T	11: 119,333,946 (GRCm39)	M3052L	probably damaging	Het
Rpl14	C	A	9: 120,403,428 (GRCm39)		probably benign	Het
Rplp0	A	G	5: 115,697,931 (GRCm39)	Y13C	possibly damaging	Het
Ryr1	A	G	7: 28,703,218 (GRCm39)		probably benign	Het
Sac3d1	T	C	19: 6,168,324 (GRCm39)	E98G	probably damaging	Het
Scn10a	T	A	9: 119,453,166 (GRCm39)	D1242V	probably damaging	Het
Scnn1b	T	C	7: 121,498,681 (GRCm39)	Y74H	probably damaging	Het
Serpinb3a	C	T	1: 106,975,212 (GRCm39)	W198*	probably null	Het
Sf3b4	C	A	3: 96,081,017 (GRCm39)	D108E	probably damaging	Het
Shprh	T	C	10: 11,032,935 (GRCm39)	V307A	probably damaging	Het
Slc2a2	A	G	3: 28,781,426 (GRCm39)	D458G	probably benign	Het
Strc	T	C	2: 121,210,014 (GRCm39)	D103G	probably damaging	Het
Synrg	T	C	11: 83,910,369 (GRCm39)	I923T	probably benign	Het
Tango6	G	T	8: 107,462,314 (GRCm39)		probably benign	Het
Tas2r106	A	G	6: 131,655,539 (GRCm39)	L104P	probably damaging	Het
Tat	C	T	8: 110,718,316 (GRCm39)	P67L	probably damaging	Het
Tln2	A	C	9: 67,262,479 (GRCm39)	S593A	probably benign	Het
Tmem94	A	G	11: 115,685,607 (GRCm39)		probably null	Het
Tppp3	G	A	8: 106,194,804 (GRCm39)	A109V	probably benign	Het
Trank1	T	C	9: 111,220,361 (GRCm39)	F2366S	probably benign	Het
Trpc5	T	A	X: 143,264,392 (GRCm39)	Y155F	probably damaging	Het
Trpv1	A	G	11: 73,151,268 (GRCm39)	T451A	probably benign	Het
Ttc9	C	A	12: 81,678,423 (GRCm39)	A82E	probably damaging	Het
Ttll11	T	A	2: 35,834,886 (GRCm39)	N180I	probably damaging	Het
Ttn	T	C	2: 76,566,743 (GRCm39)	N28050S	possibly damaging	Het
Vmn2r73	G	T	7: 85,522,140 (GRCm39)	H66Q	probably benign	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Wnt3	G	A	11: 103,703,141 (GRCm39)	C208Y	probably damaging	Het
Zfp521	C	A	18: 13,978,325 (GRCm39)	C696F	probably damaging	Het
Zfp521	T	C	18: 13,979,927 (GRCm39)	D162G	probably damaging	Het
Zfp869	A	T	8: 70,159,054 (GRCm39)	H506Q	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
IGL02991:Ppef2	UTSW	5	92,383,759 (GRCm39)	nonsense	probably null
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'- TGGTCTACTGAGCACTGTGGTAGTC -3'
(R):5'- ATGCCACCTGCTCTCCTGAAAAG -3'

Sequencing Primer
(F):5'- TAGTCACTGCCAAGGTGC -3'
(R):5'- ATAGGTGTGTTTCTAGTCCACACAG -3'

Posted On

2013-05-23