Incidental Mutation 'R0659:Ppef2'
| ID |
61778 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppef2
|
| Ensembl Gene |
ENSMUSG00000029410 |
| Gene Name |
protein phosphatase, EF hand calcium-binding domain 2 |
| Synonyms |
|
| MMRRC Submission |
038844-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0659 (G1)
|
| Quality Score |
120 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
92374538-92404137 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92378368 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 609
(L609P)
|
| 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: L609P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031359
Gene: ENSMUSG00000029410
AA Change: L609P
| 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: L609P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144157
Gene: ENSMUSG00000029410
AA Change: L609P
| 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 |
0.7942 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.6%
|
| Validation Efficiency |
99% (72/73) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
A |
G |
18: 59,140,565 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,992,366 (GRCm39) |
H4550R |
possibly damaging |
Het |
| Anxa6 |
A |
G |
11: 54,874,173 (GRCm39) |
V591A |
probably damaging |
Het |
| Apol7c |
A |
G |
15: 77,410,473 (GRCm39) |
S158P |
probably damaging |
Het |
| Asxl1 |
T |
A |
2: 153,242,644 (GRCm39) |
S1065T |
possibly damaging |
Het |
| Cacna2d4 |
A |
G |
6: 119,322,067 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
T |
C |
9: 78,587,452 (GRCm39) |
|
probably benign |
Het |
| Cep78 |
C |
T |
19: 15,933,554 (GRCm39) |
V675M |
probably damaging |
Het |
| Ces4a |
T |
C |
8: 105,871,554 (GRCm39) |
|
probably benign |
Het |
| Chpf |
A |
G |
1: 75,454,367 (GRCm39) |
V137A |
probably damaging |
Het |
| Comp |
T |
C |
8: 70,831,751 (GRCm39) |
S457P |
possibly damaging |
Het |
| Cth |
A |
G |
3: 157,625,752 (GRCm39) |
|
probably benign |
Het |
| Cyp2a12 |
T |
C |
7: 26,733,563 (GRCm39) |
L314P |
probably damaging |
Het |
| Ets1 |
C |
T |
9: 32,649,589 (GRCm39) |
R309C |
probably damaging |
Het |
| Foxp2 |
T |
C |
6: 15,254,278 (GRCm39) |
|
probably benign |
Het |
| Gm9875 |
T |
G |
2: 13,562,995 (GRCm39) |
F108V |
unknown |
Het |
| Golga5 |
G |
T |
12: 102,442,467 (GRCm39) |
V269F |
possibly damaging |
Het |
| Greb1 |
T |
C |
12: 16,730,213 (GRCm39) |
Y1738C |
probably damaging |
Het |
| Grin2a |
G |
T |
16: 9,810,336 (GRCm39) |
P21Q |
probably damaging |
Het |
| Hdac5 |
A |
T |
11: 102,086,850 (GRCm39) |
V70E |
probably damaging |
Het |
| Hdac9 |
T |
C |
12: 34,487,221 (GRCm39) |
Q60R |
probably damaging |
Het |
| Hsd17b3 |
T |
C |
13: 64,221,750 (GRCm39) |
T92A |
possibly damaging |
Het |
| Itpk1 |
C |
T |
12: 102,572,337 (GRCm39) |
|
probably benign |
Het |
| Lin28a |
T |
C |
4: 133,735,410 (GRCm39) |
|
probably benign |
Het |
| Mapk6 |
T |
C |
9: 75,305,244 (GRCm39) |
S58G |
probably damaging |
Het |
| Mmp21 |
G |
A |
7: 133,279,396 (GRCm39) |
|
probably benign |
Het |
| Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
| Mroh2a |
G |
A |
1: 88,178,064 (GRCm39) |
D1053N |
probably damaging |
Het |
| Msh3 |
T |
C |
13: 92,481,604 (GRCm39) |
N303D |
possibly damaging |
Het |
| Mto1 |
T |
A |
9: 78,364,790 (GRCm39) |
I343N |
probably damaging |
Het |
| Mto1 |
C |
T |
9: 78,378,072 (GRCm39) |
T638M |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 112,908,193 (GRCm39) |
K2027E |
possibly damaging |
Het |
| Myo7a |
T |
C |
7: 97,703,545 (GRCm39) |
|
probably benign |
Het |
| Nlrp9a |
T |
C |
7: 26,256,703 (GRCm39) |
I107T |
probably damaging |
Het |
| Or5k17 |
C |
A |
16: 58,746,772 (GRCm39) |
R54L |
possibly damaging |
Het |
| Or8g37 |
T |
G |
9: 39,731,112 (GRCm39) |
M59R |
possibly damaging |
Het |
| Osbpl5 |
A |
G |
7: 143,258,767 (GRCm39) |
S268P |
probably damaging |
Het |
| Pih1d1 |
T |
A |
7: 44,809,399 (GRCm39) |
S289T |
probably benign |
Het |
| Pik3c2b |
A |
G |
1: 132,998,938 (GRCm39) |
D353G |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 17,100,199 (GRCm39) |
D1901V |
probably damaging |
Het |
| Rdh9 |
T |
C |
10: 127,612,444 (GRCm39) |
Y31H |
possibly damaging |
Het |
| Slc5a9 |
T |
A |
4: 111,741,068 (GRCm39) |
Y526F |
possibly damaging |
Het |
| Slitrk5 |
A |
G |
14: 111,918,121 (GRCm39) |
K582E |
probably benign |
Het |
| Sult1c2 |
A |
T |
17: 54,138,806 (GRCm39) |
M257K |
probably damaging |
Het |
| Tasor2 |
T |
C |
13: 3,624,448 (GRCm39) |
D1834G |
probably damaging |
Het |
| Tmem132d |
A |
G |
5: 128,061,351 (GRCm39) |
I417T |
possibly damaging |
Het |
| Tmem229b |
T |
C |
12: 79,011,908 (GRCm39) |
T8A |
probably benign |
Het |
| Tmem237 |
T |
C |
1: 59,153,253 (GRCm39) |
I89M |
possibly damaging |
Het |
| Tnfrsf17 |
A |
T |
16: 11,137,683 (GRCm39) |
D140V |
probably damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,807,647 (GRCm39) |
|
probably benign |
Het |
| Trio |
A |
G |
15: 27,831,485 (GRCm39) |
L194P |
probably damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,605,122 (GRCm39) |
|
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,828,217 (GRCm39) |
M1457K |
probably benign |
Het |
| Zfhx2 |
A |
G |
14: 55,311,258 (GRCm39) |
C479R |
possibly damaging |
Het |
| Zfp420 |
T |
A |
7: 29,574,964 (GRCm39) |
C395S |
probably damaging |
Het |
| Zfp740 |
A |
G |
15: 102,121,094 (GRCm39) |
T136A |
possibly damaging |
Het |
| Zfp82 |
C |
T |
7: 29,755,754 (GRCm39) |
E443K |
probably damaging |
Het |
| Zranb2 |
A |
G |
3: 157,247,400 (GRCm39) |
S193G |
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 |
|
|
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'- AGCTGTTTCAGAATTTAGGCACCCC -3'
(R):5'- GTTTCCAGTCAACTTTGCCATGACC -3'
Sequencing Primer
(F):5'- GAATTTAGGCACCCCTTCATAGG -3'
(R):5'- GAATAGTGGTAACGGCCTTTATTCC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation