Incidental Mutation 'R3745:Ppef2'
ID |
271161 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppef2
|
Ensembl Gene |
ENSMUSG00000029410 |
Gene Name |
protein phosphatase, EF hand calcium-binding domain 2 |
Synonyms |
|
MMRRC Submission |
040731-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3745 (G1)
|
Quality Score |
183 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
92374538-92404137 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 92387010 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144157
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031359]
[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: 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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
98% (44/45) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
Acot9 |
G |
A |
X: 154,054,941 (GRCm39) |
|
probably benign |
Het |
Akap10 |
A |
G |
11: 61,806,131 (GRCm39) |
V199A |
probably benign |
Het |
Aox4 |
C |
T |
1: 58,285,029 (GRCm39) |
H594Y |
probably damaging |
Het |
Arhgap35 |
A |
T |
7: 16,297,647 (GRCm39) |
Y473N |
probably damaging |
Het |
Aspn |
G |
A |
13: 49,720,036 (GRCm39) |
E351K |
probably damaging |
Het |
Astn1 |
G |
T |
1: 158,329,630 (GRCm39) |
A162S |
probably damaging |
Het |
Atosa |
T |
C |
9: 74,917,144 (GRCm39) |
V581A |
probably benign |
Het |
Auts2 |
A |
G |
5: 131,505,425 (GRCm39) |
|
probably benign |
Het |
Cog6 |
A |
T |
3: 52,900,240 (GRCm39) |
M507K |
probably benign |
Het |
Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
Cyp2d11 |
A |
C |
15: 82,276,056 (GRCm39) |
I175S |
probably benign |
Het |
Dclk1 |
A |
G |
3: 55,154,863 (GRCm39) |
N98D |
possibly damaging |
Het |
Erich5 |
T |
A |
15: 34,470,878 (GRCm39) |
C36S |
probably damaging |
Het |
F5 |
A |
G |
1: 164,014,348 (GRCm39) |
I540V |
possibly damaging |
Het |
Fam20a |
A |
T |
11: 109,568,616 (GRCm39) |
S303R |
probably benign |
Het |
Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
Gbp9 |
C |
A |
5: 105,253,724 (GRCm39) |
|
probably benign |
Het |
Gm6408 |
G |
T |
5: 146,421,246 (GRCm39) |
V292F |
probably damaging |
Het |
Kmt2a |
A |
G |
9: 44,742,637 (GRCm39) |
|
probably benign |
Het |
Lrriq1 |
T |
C |
10: 103,006,717 (GRCm39) |
D1136G |
probably damaging |
Het |
Macrod2 |
C |
A |
2: 141,652,549 (GRCm39) |
T204K |
probably damaging |
Het |
Mlkl |
A |
G |
8: 112,042,199 (GRCm39) |
|
probably benign |
Het |
Msantd1 |
T |
A |
5: 35,080,811 (GRCm39) |
V155E |
possibly damaging |
Het |
Myo3b |
A |
G |
2: 70,064,829 (GRCm39) |
|
probably benign |
Het |
Nbn |
T |
A |
4: 15,976,163 (GRCm39) |
C375S |
possibly damaging |
Het |
Nell2 |
A |
C |
15: 95,330,554 (GRCm39) |
C231W |
probably damaging |
Het |
Nipbl |
A |
G |
15: 8,388,358 (GRCm39) |
S421P |
probably benign |
Het |
Npr3 |
A |
T |
15: 11,905,577 (GRCm39) |
V50E |
probably damaging |
Het |
Or4d10 |
A |
G |
19: 12,051,744 (GRCm39) |
L84P |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,728,435 (GRCm39) |
|
probably benign |
Het |
Pkn3 |
A |
G |
2: 29,980,353 (GRCm39) |
K785R |
probably damaging |
Het |
Prdm10 |
T |
C |
9: 31,251,703 (GRCm39) |
I357T |
possibly damaging |
Het |
Prrc2c |
G |
A |
1: 162,525,754 (GRCm39) |
T284I |
unknown |
Het |
Psma3 |
T |
C |
12: 71,025,522 (GRCm39) |
S13P |
possibly damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Rpl6l |
T |
C |
10: 110,962,226 (GRCm39) |
|
noncoding transcript |
Het |
Tex11 |
A |
G |
X: 99,960,178 (GRCm39) |
V522A |
probably benign |
Het |
Thsd7b |
A |
G |
1: 129,605,978 (GRCm39) |
E573G |
probably benign |
Het |
Tom1l1 |
A |
G |
11: 90,548,567 (GRCm39) |
S259P |
probably benign |
Het |
Trpm8 |
A |
G |
1: 88,276,049 (GRCm39) |
E549G |
probably benign |
Het |
Vmn1r66 |
C |
T |
7: 10,008,248 (GRCm39) |
A262T |
possibly damaging |
Het |
Zc3h13 |
T |
A |
14: 75,568,101 (GRCm39) |
D1131E |
probably benign |
Het |
Zfp445 |
A |
C |
9: 122,683,791 (GRCm39) |
D289E |
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 |
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'- TTAAAGCCAGAGCCCAGGTG -3'
(R):5'- TATCAGCCTGCCAATTGCGTG -3'
Sequencing Primer
(F):5'- CCAGAGCCCAGGTGAAAAG -3'
(R):5'- ATAAGGGTTGCCATCAAGCTTGTC -3'
|
Posted On |
2015-03-18 |