Mutagenetix > Incidental Mutation

Incidental Mutation 'R2212:Ppef2'

239443

Institutional Source

Beutler Lab

Gene Symbol

Ppef2

Ensembl Gene

ENSMUSG00000029410

Gene Name

protein phosphatase, EF hand calcium-binding domain 2

Synonyms

MMRRC Submission

040214-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2212 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92374538-92404137 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 92376581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 649 (S649R)

Ref Sequence

ENSEMBL: ENSMUSP00000144157 (fasta)

Gene Model

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

AlphaFold

O35385

Predicted Effect

probably damaging
Transcript: ENSMUST00000031359
AA Change: S649R

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000031359
Gene: ENSMUSG00000029410
AA Change: S649R

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: S649R

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144157
Gene: ENSMUSG00000029410
AA Change: S649R

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

noncoding transcript
Transcript: ENSMUST00000201236

Meta Mutation Damage Score

0.0887

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,603,977 (GRCm39)	Y6C	probably damaging	Het
3425401B19Rik	T	A	14: 32,383,559 (GRCm39)	Q802L	probably benign	Het
Adarb2	T	C	13: 8,802,654 (GRCm39)	F643S	probably damaging	Het
Angptl4	A	G	17: 33,994,392 (GRCm39)	I401T	probably damaging	Het
Ap2a2	T	A	7: 141,178,689 (GRCm39)	N105K	probably benign	Het
Atp8b4	C	A	2: 126,217,677 (GRCm39)	W613L	probably damaging	Het
Cibar1	A	G	4: 12,171,696 (GRCm39)		probably null	Het
Coq10a	A	G	10: 128,200,998 (GRCm39)	V93A	possibly damaging	Het
Cyp4f39	A	T	17: 32,706,037 (GRCm39)	E376V	possibly damaging	Het
Deup1	A	T	9: 15,511,139 (GRCm39)	D213E	probably benign	Het
Ehmt2	A	G	17: 35,118,341 (GRCm39)	S39G	probably benign	Het
Eya1	T	A	1: 14,344,433 (GRCm39)		probably null	Het
Fcna	G	C	2: 25,517,505 (GRCm39)	P49A	probably damaging	Het
Flnb	AAGGAG	AAG	14: 7,881,652 (GRCm38)		probably benign	Het
Fscn2	G	T	11: 120,252,417 (GRCm39)		probably benign	Het
Gckr	T	A	5: 31,458,211 (GRCm39)		probably null	Het
Golgb1	A	G	16: 36,707,709 (GRCm39)	K68E	probably damaging	Het
H2-M11	G	A	17: 36,859,822 (GRCm39)	V272M	probably damaging	Het
Hace1	T	A	10: 45,524,771 (GRCm39)	D234E	possibly damaging	Het
Il18r1	A	T	1: 40,530,227 (GRCm39)	D318V	probably damaging	Het
Il4i1	T	C	7: 44,486,082 (GRCm39)	L22P	probably damaging	Het
Kcnq3	A	T	15: 65,892,142 (GRCm39)	F411Y	probably benign	Het
Kcnt2	A	G	1: 140,458,538 (GRCm39)	Y775C	probably damaging	Het
Krt84	A	C	15: 101,440,973 (GRCm39)	V73G	probably benign	Het
Lcp2	A	C	11: 34,020,995 (GRCm39)	D117A	probably benign	Het
Lemd1	C	A	1: 132,156,024 (GRCm39)	T22K	probably benign	Het
Mdm4	T	C	1: 132,922,260 (GRCm39)	D294G	probably damaging	Het
Mep1a	G	A	17: 43,788,154 (GRCm39)	A634V	probably benign	Het
Myh15	A	G	16: 48,959,095 (GRCm39)	D989G	probably benign	Het
Myo1g	G	T	11: 6,467,870 (GRCm39)	H188Q	possibly damaging	Het
Nsmaf	C	A	4: 6,396,732 (GRCm39)	L918F	probably damaging	Het
Or10d4	T	A	9: 39,580,524 (GRCm39)	M57K	probably damaging	Het
Or2v2	C	T	11: 49,004,043 (GRCm39)	C170Y	probably damaging	Het
Or51f5	T	C	7: 102,423,962 (GRCm39)	L77P	possibly damaging	Het
Or51q1	T	C	7: 103,628,609 (GRCm39)	L76P	probably damaging	Het
Pfkfb2	A	T	1: 130,635,269 (GRCm39)	N97K	probably damaging	Het
Phlda1	A	T	10: 111,343,029 (GRCm39)	E255V	probably damaging	Het
Pla2g4f	T	C	2: 120,133,587 (GRCm39)	S579G	probably benign	Het
Plcz1	C	T	6: 139,947,807 (GRCm39)	R525Q	probably damaging	Het
Ppargc1b	G	A	18: 61,444,291 (GRCm39)	Q291*	probably null	Het
Ppp1r3b	A	G	8: 35,851,379 (GRCm39)	T73A	possibly damaging	Het
Prss43	G	C	9: 110,658,532 (GRCm39)	Q277H	probably damaging	Het
Rusc2	T	G	4: 43,415,935 (GRCm39)	S414A	probably damaging	Het
Serpina3j	G	A	12: 104,280,985 (GRCm39)	D53N	probably damaging	Het
Sez6l	A	G	5: 112,623,227 (GRCm39)	L108P	possibly damaging	Het
Slc1a7	A	G	4: 107,868,191 (GRCm39)	E497G	probably benign	Het
Spag8	T	A	4: 43,651,606 (GRCm39)	S423C	probably damaging	Het
Spata13	A	G	14: 60,944,172 (GRCm39)	T522A	probably benign	Het
Spryd3	A	G	15: 102,038,711 (GRCm39)		probably null	Het
Sry	T	A	Y: 2,663,339 (GRCm39)	N107I	probably damaging	Het
St6galnac1	A	G	11: 116,656,682 (GRCm39)	W486R	probably damaging	Het
Syt1	G	T	10: 108,340,275 (GRCm39)	P348T	possibly damaging	Het
Taok2	T	C	7: 126,470,030 (GRCm39)	I933V	possibly damaging	Het
Tex9	C	A	9: 72,385,040 (GRCm39)	Q265H	possibly damaging	Het
Tmem63a	G	A	1: 180,790,679 (GRCm39)	D446N	possibly damaging	Het
Trim59	T	C	3: 68,944,876 (GRCm39)	T155A	probably benign	Het
Trim69	T	C	2: 122,009,125 (GRCm39)	V395A	probably benign	Het
Tusc1	C	A	4: 93,223,173 (GRCm39)	R162L	probably damaging	Het
Ubash3a	A	T	17: 31,437,008 (GRCm39)	Q208H	probably damaging	Het
Ubn2	A	G	6: 38,475,674 (GRCm39)	T1211A	probably benign	Het
Vmn2r110	A	T	17: 20,794,209 (GRCm39)		probably null	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Zfyve28	C	T	5: 34,357,028 (GRCm39)	M723I	probably benign	Het
Zmynd8	A	T	2: 165,657,371 (GRCm39)	M533K	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
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
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'- GACAACTCAACAGCTGCGTG -3'
(R):5'- ATGCGAACATCAGCATTGC -3'

Sequencing Primer
(F):5'- TCAACAGCTGCGTGCAACTTG -3'
(R):5'- GAGTTCACTGGCCCCAA -3'

Posted On

2014-10-15