Incidental Mutation 'R5316:Ppef2'
| ID |
405822 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppef2
|
| Ensembl Gene |
ENSMUSG00000029410 |
| Gene Name |
protein phosphatase, EF hand calcium-binding domain 2 |
| Synonyms |
|
| MMRRC Submission |
042899-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5316 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
92374538-92404137 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 92383670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 480
(M480K)
|
| 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: M480K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000031359
Gene: ENSMUSG00000029410
AA Change: M480K
| 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: M480K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000144157
Gene: ENSMUSG00000029410
AA Change: M480K
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
G |
A |
12: 113,455,013 (GRCm39) |
R610H |
probably damaging |
Het |
| Agap2 |
G |
A |
10: 126,918,296 (GRCm39) |
|
probably null |
Het |
| Apol10a |
A |
G |
15: 77,372,729 (GRCm39) |
T122A |
probably damaging |
Het |
| Arhgap17 |
G |
T |
7: 122,895,750 (GRCm39) |
A458D |
possibly damaging |
Het |
| Cd80 |
C |
T |
16: 38,294,239 (GRCm39) |
Q41* |
probably null |
Het |
| Cmss1 |
T |
G |
16: 57,122,638 (GRCm39) |
K252T |
probably damaging |
Het |
| Cog2 |
A |
G |
8: 125,255,779 (GRCm39) |
D122G |
probably benign |
Het |
| Dsc3 |
T |
A |
18: 20,096,598 (GRCm39) |
D841V |
possibly damaging |
Het |
| Dst |
C |
A |
1: 34,262,929 (GRCm39) |
Q4549K |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,967,286 (GRCm39) |
I5275M |
possibly damaging |
Het |
| Epha6 |
A |
G |
16: 59,775,083 (GRCm39) |
L711P |
probably damaging |
Het |
| Gabrg2 |
T |
A |
11: 41,867,385 (GRCm39) |
N78I |
probably damaging |
Het |
| H1f1 |
C |
T |
13: 23,948,085 (GRCm39) |
|
probably benign |
Het |
| Htra3 |
T |
C |
5: 35,821,420 (GRCm39) |
D319G |
probably damaging |
Het |
| Jph1 |
T |
C |
1: 17,161,750 (GRCm39) |
Y304C |
probably damaging |
Het |
| Kat2a |
G |
T |
11: 100,602,996 (GRCm39) |
Q79K |
possibly damaging |
Het |
| Klhl7 |
C |
T |
5: 24,332,748 (GRCm39) |
A102V |
probably benign |
Het |
| Lamb3 |
A |
G |
1: 193,012,501 (GRCm39) |
H426R |
probably benign |
Het |
| Lemd3 |
C |
A |
10: 120,788,161 (GRCm39) |
|
probably null |
Het |
| Mcm3ap |
A |
C |
10: 76,306,760 (GRCm39) |
D291A |
possibly damaging |
Het |
| Micos13 |
G |
A |
17: 56,916,649 (GRCm39) |
S7L |
possibly damaging |
Het |
| Mme |
C |
G |
3: 63,276,375 (GRCm39) |
F717L |
probably damaging |
Het |
| Mybpc2 |
T |
A |
7: 44,169,806 (GRCm39) |
K171* |
probably null |
Het |
| Naip6 |
T |
C |
13: 100,420,290 (GRCm39) |
N1327D |
probably benign |
Het |
| Nr2e1 |
A |
T |
10: 42,447,487 (GRCm39) |
M175K |
probably benign |
Het |
| Or8a1b |
A |
T |
9: 37,622,981 (GRCm39) |
V198D |
possibly damaging |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Prkar2b |
A |
T |
12: 32,110,984 (GRCm39) |
L33Q |
probably damaging |
Het |
| Ralgps2 |
A |
T |
1: 156,641,067 (GRCm39) |
V496E |
probably damaging |
Het |
| Rbms2 |
G |
A |
10: 127,981,606 (GRCm39) |
P81L |
probably damaging |
Het |
| Scara5 |
T |
C |
14: 65,927,264 (GRCm39) |
S54P |
possibly damaging |
Het |
| Slc18a3 |
T |
C |
14: 32,184,814 (GRCm39) |
D523G |
probably benign |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Srrt |
C |
A |
5: 137,294,813 (GRCm39) |
A747S |
probably benign |
Het |
| Sycp2 |
C |
T |
2: 177,998,296 (GRCm39) |
D1075N |
probably benign |
Het |
| Tasor |
A |
G |
14: 27,193,992 (GRCm39) |
D1064G |
possibly damaging |
Het |
| Vat1l |
G |
A |
8: 115,011,088 (GRCm39) |
V279I |
probably damaging |
Het |
| Zfp677 |
A |
G |
17: 21,617,410 (GRCm39) |
K156E |
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 |
|
|
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'- CTCAGGCAAGTGGGTAGCAAAC -3'
(R):5'- TGGGTCAAATATTGATTACGTAGGC -3'
Sequencing Primer
(F):5'- GGTAGCAAACCCCAGGC -3'
(R):5'- GATTACGTAGGCATTTTTCACTTTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation