Incidental Mutation 'R5881:Ppef2'
| ID |
454412 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppef2
|
| Ensembl Gene |
ENSMUSG00000029410 |
| Gene Name |
protein phosphatase, EF hand calcium-binding domain 2 |
| Synonyms |
|
| MMRRC Submission |
044085-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5881 (G1)
|
| Quality Score |
137 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
92374538-92404137 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 92398388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 43
(C43*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031359]
[ENSMUST00000201130]
|
| AlphaFold |
O35385 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031359
AA Change: C43*
|
| SMART Domains |
Protein: ENSMUSP00000031359
Gene: ENSMUSG00000029410
AA Change: C43*
| 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
AA Change: C43*
|
| SMART Domains |
Protein: ENSMUSP00000144157
Gene: ENSMUSG00000029410
AA Change: C43*
| 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: 99.9%
- 3x: 99.3%
- 10x: 94.5%
- 20x: 78.4%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3 |
A |
C |
11: 95,725,213 (GRCm39) |
L159W |
probably damaging |
Het |
| Abi3 |
A |
T |
11: 95,725,214 (GRCm39) |
L159M |
probably damaging |
Het |
| Adam11 |
A |
C |
11: 102,664,636 (GRCm39) |
I406L |
probably benign |
Het |
| Ager |
G |
T |
17: 34,819,051 (GRCm39) |
V300L |
probably damaging |
Het |
| Ank3 |
C |
T |
10: 69,822,660 (GRCm39) |
S1726L |
probably benign |
Het |
| Boc |
A |
G |
16: 44,311,014 (GRCm39) |
I740T |
probably damaging |
Het |
| C8a |
T |
A |
4: 104,711,129 (GRCm39) |
D178V |
probably damaging |
Het |
| Ces3a |
G |
A |
8: 105,777,198 (GRCm39) |
V174M |
probably damaging |
Het |
| Cisd1 |
A |
T |
10: 71,172,244 (GRCm39) |
W13R |
probably damaging |
Het |
| Commd8 |
A |
T |
5: 72,320,107 (GRCm39) |
D111E |
probably benign |
Het |
| Ddx60 |
A |
T |
8: 62,490,104 (GRCm39) |
D1691V |
probably damaging |
Het |
| Desi2 |
A |
G |
1: 178,065,479 (GRCm39) |
Y15C |
probably damaging |
Het |
| Dnmt1 |
A |
G |
9: 20,864,013 (GRCm39) |
V24A |
probably damaging |
Het |
| Dock10 |
G |
A |
1: 80,538,640 (GRCm39) |
T968M |
probably benign |
Het |
| Dsel |
A |
T |
1: 111,787,168 (GRCm39) |
F1122L |
probably damaging |
Het |
| Eml3 |
T |
C |
19: 8,910,807 (GRCm39) |
F220L |
probably damaging |
Het |
| Entpd2 |
A |
C |
2: 25,290,824 (GRCm39) |
N443H |
probably damaging |
Het |
| Epgn |
A |
G |
5: 91,176,222 (GRCm39) |
N36S |
probably benign |
Het |
| Fsip2 |
G |
T |
2: 82,814,785 (GRCm39) |
S3506I |
possibly damaging |
Het |
| Gprin3 |
T |
C |
6: 59,331,771 (GRCm39) |
S179G |
probably benign |
Het |
| Grifin |
G |
T |
5: 140,549,342 (GRCm39) |
H125N |
possibly damaging |
Het |
| H1f9 |
A |
G |
11: 94,858,989 (GRCm39) |
T95A |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,506,078 (GRCm39) |
V3816A |
probably damaging |
Het |
| Hspa14 |
A |
G |
2: 3,499,207 (GRCm39) |
F196L |
probably benign |
Het |
| Ice1 |
T |
C |
13: 70,754,620 (GRCm39) |
K489E |
probably benign |
Het |
| Jmjd6 |
C |
T |
11: 116,730,682 (GRCm39) |
W117* |
probably null |
Het |
| Lrit2 |
G |
T |
14: 36,794,192 (GRCm39) |
A419S |
probably benign |
Het |
| Mc3r |
T |
C |
2: 172,091,092 (GRCm39) |
S105P |
probably benign |
Het |
| Mccc1 |
A |
G |
3: 36,018,531 (GRCm39) |
V601A |
probably benign |
Het |
| Myo1f |
A |
G |
17: 33,795,627 (GRCm39) |
D91G |
probably damaging |
Het |
| Myo1f |
G |
A |
17: 33,799,259 (GRCm39) |
E255K |
possibly damaging |
Het |
| Necap1 |
T |
A |
6: 122,858,503 (GRCm39) |
D115E |
probably benign |
Het |
| Or4b12 |
A |
T |
2: 90,096,786 (GRCm39) |
|
probably null |
Het |
| Or4k15b |
G |
A |
14: 50,272,444 (GRCm39) |
R139C |
probably benign |
Het |
| Or51b6 |
T |
A |
7: 103,555,883 (GRCm39) |
M79K |
probably damaging |
Het |
| Papln |
A |
G |
12: 83,818,652 (GRCm39) |
E78G |
probably null |
Het |
| Phldb3 |
T |
C |
7: 24,326,147 (GRCm39) |
|
probably null |
Het |
| Pkd1l2 |
A |
G |
8: 117,724,321 (GRCm39) |
I2394T |
probably damaging |
Het |
| Ppa2 |
A |
T |
3: 133,036,200 (GRCm39) |
N118I |
probably damaging |
Het |
| Pramel51 |
A |
G |
12: 88,143,111 (GRCm39) |
L169P |
probably damaging |
Het |
| Rab27a |
G |
A |
9: 72,992,321 (GRCm39) |
|
probably null |
Het |
| Rabgap1l |
A |
T |
1: 160,169,683 (GRCm39) |
F47I |
probably damaging |
Het |
| Rala |
A |
G |
13: 18,067,746 (GRCm39) |
I95T |
probably damaging |
Het |
| Rgl2 |
A |
G |
17: 34,151,691 (GRCm39) |
D245G |
probably benign |
Het |
| Rnf34 |
A |
T |
5: 123,002,146 (GRCm39) |
T35S |
probably damaging |
Het |
| Ros1 |
C |
T |
10: 52,057,894 (GRCm39) |
R51Q |
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,372,716 (GRCm39) |
D1515G |
possibly damaging |
Het |
| Scn7a |
T |
C |
2: 66,505,870 (GRCm39) |
E1673G |
probably benign |
Het |
| Slc6a20a |
A |
C |
9: 123,470,773 (GRCm39) |
|
probably null |
Het |
| Tdrd5 |
A |
T |
1: 156,122,070 (GRCm39) |
S280T |
probably damaging |
Het |
| Tent2 |
A |
T |
13: 93,312,246 (GRCm39) |
C180* |
probably null |
Het |
| Tie1 |
T |
C |
4: 118,332,800 (GRCm39) |
I911V |
possibly damaging |
Het |
| Vipas39 |
G |
A |
12: 87,298,581 (GRCm39) |
R194* |
probably null |
Het |
| Ybx3 |
A |
C |
6: 131,345,451 (GRCm39) |
N307K |
possibly damaging |
Het |
| Ylpm1 |
A |
T |
12: 85,088,899 (GRCm39) |
H1216L |
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 |
|
|
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 |
|
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'- CATGGAGCTGTGGAAGAACC -3'
(R):5'- GTAGAAATATCACATACAGCACGTG -3'
Sequencing Primer
(F):5'- GAACCAGACGAGGCTAGC -3'
(R):5'- CGCGCACACACACACAC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation