Incidental Mutation 'IGL01613:Ppef2'
| ID |
92258 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppef2
|
| Ensembl Gene |
ENSMUSG00000029410 |
| Gene Name |
protein phosphatase, EF hand calcium-binding domain 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01613
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
92226679-92256278 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92235820 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 477
(E477G)
|
| 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: E477G
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000031359
Gene: ENSMUSG00000029410
AA Change: E477G
| 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: E477G
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000144157
Gene: ENSMUSG00000029410
AA Change: E477G
| 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 |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
G |
5: 125,512,652 (GRCm38) |
M446R |
possibly damaging |
Het |
| Abca16 |
A |
G |
7: 120,541,277 (GRCm38) |
N1599S |
probably benign |
Het |
| Ankib1 |
G |
A |
5: 3,713,146 (GRCm38) |
Q528* |
probably null |
Het |
| Ano10 |
A |
T |
9: 122,259,540 (GRCm38) |
L347M |
possibly damaging |
Het |
| Bag6 |
T |
C |
17: 35,143,016 (GRCm38) |
|
probably benign |
Het |
| Bpnt1 |
T |
C |
1: 185,353,994 (GRCm38) |
V182A |
possibly damaging |
Het |
| Capn13 |
G |
T |
17: 73,331,058 (GRCm38) |
T450N |
probably benign |
Het |
| Cbr3 |
A |
T |
16: 93,683,443 (GRCm38) |
E40V |
probably benign |
Het |
| Cdk10 |
T |
C |
8: 123,228,387 (GRCm38) |
I159T |
probably damaging |
Het |
| Cela3b |
T |
C |
4: 137,425,071 (GRCm38) |
D65G |
possibly damaging |
Het |
| Csf2rb |
T |
G |
15: 78,335,302 (GRCm38) |
|
probably benign |
Het |
| Cyp2b19 |
C |
T |
7: 26,763,461 (GRCm38) |
T256I |
possibly damaging |
Het |
| Dpp9 |
T |
C |
17: 56,190,713 (GRCm38) |
H687R |
probably benign |
Het |
| Elovl1 |
T |
C |
4: 118,431,270 (GRCm38) |
V108A |
probably benign |
Het |
| Emb |
T |
A |
13: 117,272,078 (GRCm38) |
N318K |
probably damaging |
Het |
| Ermp1 |
A |
G |
19: 29,639,939 (GRCm38) |
L36P |
probably damaging |
Het |
| Esco2 |
T |
G |
14: 65,826,595 (GRCm38) |
H380P |
possibly damaging |
Het |
| Gm5724 |
G |
T |
6: 141,713,214 (GRCm38) |
T552K |
possibly damaging |
Het |
| Gm9747 |
G |
A |
1: 82,234,088 (GRCm38) |
|
probably benign |
Het |
| Golga1 |
A |
G |
2: 39,020,126 (GRCm38) |
M603T |
probably benign |
Het |
| Hsph1 |
A |
G |
5: 149,627,278 (GRCm38) |
V411A |
probably benign |
Het |
| Igsf21 |
C |
T |
4: 140,107,364 (GRCm38) |
G66S |
possibly damaging |
Het |
| Ints11 |
T |
C |
4: 155,885,198 (GRCm38) |
|
probably null |
Het |
| Jakmip1 |
G |
T |
5: 37,100,768 (GRCm38) |
A253S |
probably damaging |
Het |
| Met |
A |
G |
6: 17,540,577 (GRCm38) |
Y834C |
probably damaging |
Het |
| Mgl2 |
A |
G |
11: 70,134,158 (GRCm38) |
T2A |
probably benign |
Het |
| Myh2 |
G |
T |
11: 67,197,344 (GRCm38) |
V1929L |
probably benign |
Het |
| Myh8 |
T |
C |
11: 67,301,710 (GRCm38) |
S1472P |
probably benign |
Het |
| Myo1e |
T |
C |
9: 70,341,273 (GRCm38) |
|
probably benign |
Het |
| Ndufaf7 |
A |
G |
17: 78,937,502 (GRCm38) |
I17V |
probably benign |
Het |
| Olfr1046 |
T |
G |
2: 86,217,161 (GRCm38) |
D183A |
probably damaging |
Het |
| Olfr1256 |
T |
C |
2: 89,835,808 (GRCm38) |
T46A |
probably damaging |
Het |
| Olfr193 |
A |
T |
16: 59,109,921 (GRCm38) |
S230T |
probably damaging |
Het |
| Olfr804 |
A |
G |
10: 129,705,623 (GRCm38) |
I248M |
probably benign |
Het |
| Olfr830 |
T |
A |
9: 18,875,321 (GRCm38) |
|
probably benign |
Het |
| Olfr914 |
A |
G |
9: 38,606,554 (GRCm38) |
I30V |
probably null |
Het |
| Olfr992 |
C |
T |
2: 85,400,171 (GRCm38) |
D121N |
probably damaging |
Het |
| Scmh1 |
T |
A |
4: 120,529,900 (GRCm38) |
|
probably benign |
Het |
| Scn1a |
C |
A |
2: 66,285,937 (GRCm38) |
D1473Y |
probably damaging |
Het |
| Sdr42e1 |
C |
T |
8: 117,662,937 (GRCm38) |
V322I |
probably benign |
Het |
| Spta1 |
G |
A |
1: 174,208,394 (GRCm38) |
A1089T |
probably damaging |
Het |
| Sufu |
T |
C |
19: 46,475,620 (GRCm38) |
Y424H |
probably damaging |
Het |
| Tgs1 |
T |
C |
4: 3,585,183 (GRCm38) |
F108L |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,974,964 (GRCm38) |
N177S |
probably benign |
Het |
| Tyk2 |
T |
C |
9: 21,120,576 (GRCm38) |
D401G |
probably damaging |
Het |
| Vav1 |
T |
C |
17: 57,307,067 (GRCm38) |
F650L |
possibly damaging |
Het |
| Wdr12 |
T |
C |
1: 60,080,559 (GRCm38) |
H385R |
probably damaging |
Het |
| Xab2 |
T |
C |
8: 3,610,880 (GRCm38) |
M745V |
probably benign |
Het |
|
| Other mutations in Ppef2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01066:Ppef2
|
APN |
5 |
92,234,237 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01105:Ppef2
|
APN |
5 |
92,249,196 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL01793:Ppef2
|
APN |
5 |
92,246,756 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02529:Ppef2
|
APN |
5 |
92,244,737 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02702:Ppef2
|
APN |
5 |
92,231,819 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02992:Ppef2
|
APN |
5 |
92,235,900 (GRCm38) |
nonsense |
probably null |
|
|
IGL02995:Ppef2
|
APN |
5 |
92,235,900 (GRCm38) |
nonsense |
probably null |
|
|
IGL02996:Ppef2
|
APN |
5 |
92,235,900 (GRCm38) |
nonsense |
probably null |
|
|
IGL03169:Ppef2
|
APN |
5 |
92,235,900 (GRCm38) |
nonsense |
probably null |
|
|
IGL02991:Ppef2
|
UTSW |
5 |
92,235,900 (GRCm38) |
nonsense |
probably null |
|
|
R0494:Ppef2
|
UTSW |
5 |
92,253,093 (GRCm38) |
splice site |
probably benign |
|
|
R0659:Ppef2
|
UTSW |
5 |
92,230,509 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0781:Ppef2
|
UTSW |
5 |
92,244,830 (GRCm38) |
missense |
probably benign |
0.39 |
|
R1162:Ppef2
|
UTSW |
5 |
92,253,121 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1870:Ppef2
|
UTSW |
5 |
92,250,512 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2212:Ppef2
|
UTSW |
5 |
92,228,722 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2973:Ppef2
|
UTSW |
5 |
92,239,094 (GRCm38) |
missense |
probably benign |
|
|
R3412:Ppef2
|
UTSW |
5 |
92,228,722 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R3413:Ppef2
|
UTSW |
5 |
92,228,722 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R3745:Ppef2
|
UTSW |
5 |
92,239,151 (GRCm38) |
splice site |
probably benign |
|
|
R4878:Ppef2
|
UTSW |
5 |
92,228,740 (GRCm38) |
splice site |
probably null |
|
|
R5027:Ppef2
|
UTSW |
5 |
92,234,291 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5156:Ppef2
|
UTSW |
5 |
92,244,602 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5316:Ppef2
|
UTSW |
5 |
92,235,811 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5590:Ppef2
|
UTSW |
5 |
92,239,139 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5773:Ppef2
|
UTSW |
5 |
92,250,561 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5881:Ppef2
|
UTSW |
5 |
92,250,529 (GRCm38) |
nonsense |
probably null |
|
|
R6032:Ppef2
|
UTSW |
5 |
92,230,524 (GRCm38) |
missense |
probably benign |
0.23 |
|
R6032:Ppef2
|
UTSW |
5 |
92,230,524 (GRCm38) |
missense |
probably benign |
0.23 |
|
R6182:Ppef2
|
UTSW |
5 |
92,227,066 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6335:Ppef2
|
UTSW |
5 |
92,235,754 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6645:Ppef2
|
UTSW |
5 |
92,230,461 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7448:Ppef2
|
UTSW |
5 |
92,228,704 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7576:Ppef2
|
UTSW |
5 |
92,253,134 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R7968:Ppef2
|
UTSW |
5 |
92,249,163 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7988:Ppef2
|
UTSW |
5 |
92,238,982 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8200:Ppef2
|
UTSW |
5 |
92,245,392 (GRCm38) |
missense |
probably benign |
0.13 |
|
R8212:Ppef2
|
UTSW |
5 |
92,228,665 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R9687:Ppef2
|
UTSW |
5 |
92,238,887 (GRCm38) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-12-09 |
Incidental Mutation