Incidental Mutation 'R5156:Ppef2'
| ID |
470608 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppef2
|
| Ensembl Gene |
ENSMUSG00000029410 |
| Gene Name |
protein phosphatase, EF hand calcium-binding domain 2 |
| Synonyms |
|
| MMRRC Submission |
042738-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5156 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
92374538-92404137 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 92392461 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031359]
[ENSMUST00000031359]
[ENSMUST00000201130]
[ENSMUST00000201130]
|
| AlphaFold |
O35385 |
| Predicted Effect |
probably null
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 null
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 null
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 |
|
| Predicted Effect |
probably null
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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
100% (52/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513D11Rik |
G |
T |
17: 79,935,638 (GRCm39) |
|
probably benign |
Het |
| Apeh |
C |
T |
9: 107,971,486 (GRCm39) |
A29T |
probably damaging |
Het |
| Arap2 |
A |
T |
5: 62,826,524 (GRCm39) |
Y1013* |
probably null |
Het |
| Arhgef4 |
A |
G |
1: 34,762,355 (GRCm39) |
E537G |
unknown |
Het |
| Asf1b |
T |
C |
8: 84,682,540 (GRCm39) |
F28S |
probably damaging |
Het |
| Cd46 |
T |
A |
1: 194,767,693 (GRCm39) |
I123L |
possibly damaging |
Het |
| Cdca7 |
A |
T |
2: 72,309,370 (GRCm39) |
T48S |
probably damaging |
Het |
| Cfap53 |
T |
A |
18: 74,492,838 (GRCm39) |
|
probably benign |
Het |
| Clca3a2 |
T |
A |
3: 144,511,599 (GRCm39) |
T599S |
probably benign |
Het |
| Csf1 |
T |
A |
3: 107,656,252 (GRCm39) |
T148S |
probably benign |
Het |
| Dmbt1 |
T |
C |
7: 130,699,400 (GRCm39) |
|
probably null |
Het |
| Dmpk |
A |
G |
7: 18,818,050 (GRCm39) |
D44G |
probably damaging |
Het |
| Dnajb12 |
T |
A |
10: 59,728,782 (GRCm39) |
N223K |
probably damaging |
Het |
| Dync1h1 |
T |
A |
12: 110,595,264 (GRCm39) |
M1392K |
probably benign |
Het |
| Edrf1 |
C |
T |
7: 133,261,908 (GRCm39) |
A867V |
probably damaging |
Het |
| Efemp2 |
T |
A |
19: 5,527,706 (GRCm39) |
C94S |
possibly damaging |
Het |
| Epha8 |
C |
T |
4: 136,666,037 (GRCm39) |
S373N |
probably benign |
Het |
| Foxk1 |
A |
G |
5: 142,434,588 (GRCm39) |
D284G |
possibly damaging |
Het |
| Fzd10 |
C |
A |
5: 128,678,366 (GRCm39) |
R29S |
possibly damaging |
Het |
| Gm13991 |
T |
C |
2: 116,358,665 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6818 |
A |
T |
7: 38,101,471 (GRCm39) |
|
noncoding transcript |
Het |
| Hydin |
T |
A |
8: 111,336,333 (GRCm39) |
C5037S |
probably benign |
Het |
| Ikzf1 |
T |
A |
11: 11,719,448 (GRCm39) |
M492K |
probably damaging |
Het |
| Krt20 |
G |
T |
11: 99,320,879 (GRCm39) |
S394R |
possibly damaging |
Het |
| Lrrc71 |
T |
A |
3: 87,653,094 (GRCm39) |
R107S |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,219,323 (GRCm39) |
T436A |
possibly damaging |
Het |
| Muc19 |
T |
A |
15: 91,784,614 (GRCm39) |
|
noncoding transcript |
Het |
| Neu4 |
T |
C |
1: 93,952,177 (GRCm39) |
V182A |
probably damaging |
Het |
| Notch2 |
T |
G |
3: 98,031,626 (GRCm39) |
F1167V |
possibly damaging |
Het |
| Nrap |
A |
G |
19: 56,360,277 (GRCm39) |
M189T |
possibly damaging |
Het |
| Nt5m |
A |
T |
11: 59,765,487 (GRCm39) |
I172F |
probably damaging |
Het |
| Or5b118 |
G |
T |
19: 13,449,037 (GRCm39) |
K234N |
probably damaging |
Het |
| Or5w15 |
G |
A |
2: 87,568,119 (GRCm39) |
P183L |
possibly damaging |
Het |
| Or8k41 |
A |
T |
2: 86,313,362 (GRCm39) |
C241* |
probably null |
Het |
| Plekha5 |
C |
T |
6: 140,372,254 (GRCm39) |
T68M |
probably damaging |
Het |
| Ppp1r37 |
T |
C |
7: 19,295,900 (GRCm39) |
|
probably benign |
Het |
| Rfx4 |
T |
C |
10: 84,704,218 (GRCm39) |
Y238H |
probably damaging |
Het |
| Sanbr |
A |
G |
11: 23,543,424 (GRCm39) |
|
probably null |
Het |
| Sec13 |
G |
A |
6: 113,707,837 (GRCm39) |
A161V |
probably benign |
Het |
| Serhl |
G |
A |
15: 82,986,895 (GRCm39) |
|
probably benign |
Het |
| Slco4a1 |
T |
C |
2: 180,114,572 (GRCm39) |
V588A |
probably benign |
Het |
| Slitrk3 |
T |
C |
3: 72,956,592 (GRCm39) |
T727A |
probably benign |
Het |
| Sp100 |
T |
A |
1: 85,601,404 (GRCm39) |
D241E |
probably damaging |
Het |
| Spata2 |
G |
T |
2: 167,325,494 (GRCm39) |
H442N |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,404,731 (GRCm39) |
V2588A |
probably damaging |
Het |
| Tnfsf12 |
A |
G |
11: 69,578,155 (GRCm39) |
S141P |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,219,762 (GRCm39) |
I2166M |
probably damaging |
Het |
| Trim10 |
T |
A |
17: 37,187,948 (GRCm39) |
V388E |
probably damaging |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Vmn2r10 |
A |
G |
5: 109,143,466 (GRCm39) |
V828A |
probably benign |
Het |
| Vmn2r75 |
T |
A |
7: 85,813,436 (GRCm39) |
L455F |
possibly damaging |
Het |
| Vwa8 |
T |
A |
14: 79,221,666 (GRCm39) |
S541T |
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 |
|
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 |
|
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'- TGCTAAAGGGCAGTGATTGG -3'
(R):5'- ACAGTTCGGTGAAGCTGAATAG -3'
Sequencing Primer
(F):5'- GACTGCTCTTACAAAGGTCCTGAG -3'
(R):5'- AGGACACTTCAGGATGTC -3'
|
| Posted On |
2017-03-23 |
Incidental Mutation