Incidental Mutation 'R6032:Ppef2'
ID |
480445 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppef2
|
Ensembl Gene |
ENSMUSG00000029410 |
Gene Name |
protein phosphatase, EF hand calcium-binding domain 2 |
Synonyms |
|
MMRRC Submission |
044204-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6032 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
92374538-92404137 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 92378383 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 604
(V604A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144157
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031359]
[ENSMUST00000201130]
|
AlphaFold |
O35385 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031359
AA Change: V604A
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000031359 Gene: ENSMUSG00000029410 AA Change: V604A
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: V604A
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000144157 Gene: ENSMUSG00000029410 AA Change: V604A
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 |
0.1720 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 96.0%
- 20x: 85.5%
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
A2ml1 |
T |
A |
6: 128,526,799 (GRCm39) |
K1071* |
probably null |
Het |
Abca13 |
G |
T |
11: 9,247,752 (GRCm39) |
V2500F |
possibly damaging |
Het |
Adamdec1 |
T |
C |
14: 68,816,633 (GRCm39) |
E85G |
probably damaging |
Het |
Aldh8a1 |
T |
C |
10: 21,264,970 (GRCm39) |
V199A |
probably benign |
Het |
Aoc2 |
G |
A |
11: 101,216,627 (GRCm39) |
V237M |
probably damaging |
Het |
Aplp2 |
C |
T |
9: 31,062,240 (GRCm39) |
R672H |
probably damaging |
Het |
Apob |
A |
G |
12: 8,045,513 (GRCm39) |
N886S |
probably benign |
Het |
Ascc3 |
C |
T |
10: 50,718,279 (GRCm39) |
R1991* |
probably null |
Het |
Atp6v1a |
T |
C |
16: 43,927,303 (GRCm39) |
Y328C |
probably damaging |
Het |
Bag4 |
T |
C |
8: 26,267,521 (GRCm39) |
Y103C |
probably damaging |
Het |
Crem |
C |
T |
18: 3,267,673 (GRCm39) |
R190Q |
probably damaging |
Het |
Crybg1 |
A |
G |
10: 43,832,756 (GRCm39) |
S2000P |
probably damaging |
Het |
Cubn |
T |
A |
2: 13,329,995 (GRCm39) |
T2629S |
probably benign |
Het |
Cyp3a44 |
G |
T |
5: 145,714,756 (GRCm39) |
S465Y |
probably damaging |
Het |
Daam2 |
A |
C |
17: 49,793,525 (GRCm39) |
F331V |
probably damaging |
Het |
Dnajc3 |
T |
C |
14: 119,205,443 (GRCm39) |
S146P |
possibly damaging |
Het |
Dscam |
A |
G |
16: 96,451,191 (GRCm39) |
|
probably null |
Het |
Fam184b |
G |
A |
5: 45,740,238 (GRCm39) |
S316L |
probably benign |
Het |
Fat2 |
G |
C |
11: 55,144,760 (GRCm39) |
T4038S |
probably damaging |
Het |
Fbxl19 |
C |
T |
7: 127,360,437 (GRCm39) |
R439C |
probably damaging |
Het |
Gm3454 |
T |
A |
15: 75,183,448 (GRCm39) |
|
noncoding transcript |
Het |
Gpatch3 |
A |
G |
4: 133,305,617 (GRCm39) |
E284G |
probably benign |
Het |
Grm1 |
A |
T |
10: 10,595,549 (GRCm39) |
I693N |
probably damaging |
Het |
Gsdme |
T |
A |
6: 50,222,934 (GRCm39) |
Q127L |
probably damaging |
Het |
Ifnlr1 |
A |
G |
4: 135,432,937 (GRCm39) |
K458E |
probably benign |
Het |
Kcns2 |
T |
C |
15: 34,839,080 (GRCm39) |
F148L |
probably benign |
Het |
Lama1 |
A |
G |
17: 68,057,638 (GRCm39) |
T571A |
probably benign |
Het |
Loxhd1 |
G |
A |
18: 77,469,254 (GRCm39) |
V108M |
probably damaging |
Het |
Mef2c |
A |
T |
13: 83,810,478 (GRCm39) |
T375S |
probably benign |
Het |
Ncor1 |
A |
T |
11: 62,264,147 (GRCm39) |
D144E |
possibly damaging |
Het |
Nos3 |
A |
T |
5: 24,584,809 (GRCm39) |
T738S |
probably benign |
Het |
Nrxn2 |
A |
T |
19: 6,567,162 (GRCm39) |
T1353S |
probably damaging |
Het |
Or2b7 |
G |
T |
13: 21,740,077 (GRCm39) |
S38R |
probably benign |
Het |
Or4f4b |
T |
C |
2: 111,314,195 (GRCm39) |
L140P |
probably damaging |
Het |
Or8g17 |
A |
G |
9: 38,930,261 (GRCm39) |
I192T |
probably benign |
Het |
Pfpl |
A |
G |
19: 12,406,747 (GRCm39) |
T333A |
probably damaging |
Het |
Postn |
A |
T |
3: 54,284,137 (GRCm39) |
I565F |
possibly damaging |
Het |
Pramel13 |
A |
C |
4: 144,119,598 (GRCm39) |
I323S |
possibly damaging |
Het |
Rel |
A |
G |
11: 23,692,684 (GRCm39) |
S450P |
probably benign |
Het |
Rpap2 |
A |
C |
5: 107,745,661 (GRCm39) |
D3A |
probably damaging |
Het |
Shisa9 |
T |
C |
16: 11,802,772 (GRCm39) |
F110L |
possibly damaging |
Het |
Slc25a10 |
A |
T |
11: 120,385,784 (GRCm39) |
|
probably null |
Het |
Slx4 |
A |
T |
16: 3,798,021 (GRCm39) |
F1454L |
probably damaging |
Het |
Smc1b |
A |
T |
15: 84,950,430 (GRCm39) |
V1198D |
possibly damaging |
Het |
Supt5 |
T |
C |
7: 28,015,600 (GRCm39) |
Y879C |
probably damaging |
Het |
Tbx15 |
T |
C |
3: 99,259,833 (GRCm39) |
M568T |
probably benign |
Het |
Tle4 |
T |
C |
19: 14,429,472 (GRCm39) |
H698R |
possibly damaging |
Het |
Trappc9 |
T |
C |
15: 72,797,379 (GRCm39) |
N803D |
probably benign |
Het |
Trim10 |
A |
T |
17: 37,182,606 (GRCm39) |
R157S |
possibly damaging |
Het |
Wsb1 |
T |
C |
11: 79,131,025 (GRCm39) |
|
probably benign |
Het |
Zfp106 |
T |
C |
2: 120,365,874 (GRCm39) |
S178G |
probably benign |
Het |
Zftraf1 |
C |
T |
15: 76,543,058 (GRCm39) |
R34Q |
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 |
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 |
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 |
|
Posted On |
2017-06-26 |