Incidental Mutation 'IGL03295:Ppp1r36'
ID |
416062 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ppp1r36
|
Ensembl Gene |
ENSMUSG00000052221 |
Gene Name |
protein phosphatase 1, regulatory subunit 36 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
IGL03295
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
76464312-76486266 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 76485192 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 305
(P305L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069849
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063977]
|
AlphaFold |
D3Z0R2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000063977
AA Change: P305L
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000069849 Gene: ENSMUSG00000052221 AA Change: P305L
Domain | Start | End | E-Value | Type |
Pfam:PPPI_inhib
|
52 |
402 |
5.7e-109 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218732
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219251
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930011G23Rik |
A |
T |
5: 99,390,915 (GRCm39) |
|
probably benign |
Het |
Adamts5 |
T |
C |
16: 85,674,833 (GRCm39) |
T444A |
probably damaging |
Het |
Aldh18a1 |
T |
C |
19: 40,551,386 (GRCm39) |
E522G |
probably damaging |
Het |
Bbx |
T |
C |
16: 50,044,927 (GRCm39) |
T437A |
probably damaging |
Het |
Bsx |
A |
G |
9: 40,785,743 (GRCm39) |
|
probably benign |
Het |
Cdc42bpa |
A |
G |
1: 179,977,769 (GRCm39) |
N729S |
probably benign |
Het |
Cdk1 |
G |
T |
10: 69,178,373 (GRCm39) |
H162Q |
possibly damaging |
Het |
Chrac1 |
A |
G |
15: 72,965,445 (GRCm39) |
|
probably benign |
Het |
Cip2a |
T |
C |
16: 48,814,704 (GRCm39) |
S22P |
probably damaging |
Het |
Ddx60 |
A |
T |
8: 62,409,155 (GRCm39) |
D397V |
possibly damaging |
Het |
Edn2 |
T |
A |
4: 120,019,178 (GRCm39) |
C56S |
probably damaging |
Het |
Gm4952 |
T |
C |
19: 12,595,691 (GRCm39) |
V27A |
probably benign |
Het |
Herc1 |
T |
A |
9: 66,303,985 (GRCm39) |
S763T |
possibly damaging |
Het |
Hspd1 |
G |
A |
1: 55,119,334 (GRCm39) |
T381I |
probably benign |
Het |
Krt1c |
T |
A |
15: 101,724,864 (GRCm39) |
I249F |
probably damaging |
Het |
Lman2l |
T |
C |
1: 36,477,892 (GRCm39) |
D148G |
probably damaging |
Het |
Lrp1b |
C |
T |
2: 40,568,999 (GRCm39) |
|
probably null |
Het |
Mier3 |
C |
A |
13: 111,840,215 (GRCm39) |
T51K |
probably benign |
Het |
Pramel27 |
G |
A |
4: 143,579,759 (GRCm39) |
C448Y |
probably damaging |
Het |
Prdm1 |
T |
C |
10: 44,315,866 (GRCm39) |
I790V |
probably damaging |
Het |
Sephs2 |
T |
C |
7: 126,871,941 (GRCm39) |
E384G |
possibly damaging |
Het |
Sipa1l1 |
T |
A |
12: 82,479,714 (GRCm39) |
W1466R |
probably damaging |
Het |
Snai2 |
T |
C |
16: 14,524,638 (GRCm39) |
L48P |
possibly damaging |
Het |
Stt3a |
A |
G |
9: 36,674,627 (GRCm39) |
|
probably null |
Het |
Synj1 |
T |
A |
16: 90,735,318 (GRCm39) |
N1545I |
probably benign |
Het |
Vav2 |
A |
T |
2: 27,165,041 (GRCm39) |
S607T |
possibly damaging |
Het |
Wdr27 |
T |
C |
17: 15,154,837 (GRCm39) |
K27E |
possibly damaging |
Het |
Xcl1 |
A |
T |
1: 164,763,004 (GRCm39) |
V19E |
unknown |
Het |
Xlr3c |
A |
T |
X: 72,301,240 (GRCm39) |
|
probably null |
Het |
Zbtb44 |
T |
A |
9: 30,964,753 (GRCm39) |
D54E |
probably benign |
Het |
Zscan21 |
A |
G |
5: 138,123,540 (GRCm39) |
D73G |
possibly damaging |
Het |
|
Other mutations in Ppp1r36 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01585:Ppp1r36
|
APN |
12 |
76,485,891 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL01744:Ppp1r36
|
APN |
12 |
76,486,006 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0099:Ppp1r36
|
UTSW |
12 |
76,483,056 (GRCm39) |
splice site |
probably null |
|
R0332:Ppp1r36
|
UTSW |
12 |
76,474,677 (GRCm39) |
missense |
probably benign |
0.32 |
R0463:Ppp1r36
|
UTSW |
12 |
76,465,741 (GRCm39) |
missense |
probably damaging |
0.98 |
R0491:Ppp1r36
|
UTSW |
12 |
76,486,065 (GRCm39) |
missense |
probably benign |
0.01 |
R1664:Ppp1r36
|
UTSW |
12 |
76,483,028 (GRCm39) |
missense |
possibly damaging |
0.84 |
R2011:Ppp1r36
|
UTSW |
12 |
76,465,700 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3918:Ppp1r36
|
UTSW |
12 |
76,464,431 (GRCm39) |
missense |
probably benign |
0.00 |
R5352:Ppp1r36
|
UTSW |
12 |
76,474,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R5464:Ppp1r36
|
UTSW |
12 |
76,474,852 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5490:Ppp1r36
|
UTSW |
12 |
76,484,761 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5490:Ppp1r36
|
UTSW |
12 |
76,484,760 (GRCm39) |
missense |
probably damaging |
0.98 |
R5523:Ppp1r36
|
UTSW |
12 |
76,484,892 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5844:Ppp1r36
|
UTSW |
12 |
76,473,566 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5849:Ppp1r36
|
UTSW |
12 |
76,485,931 (GRCm39) |
missense |
probably damaging |
0.99 |
R5866:Ppp1r36
|
UTSW |
12 |
76,473,579 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5996:Ppp1r36
|
UTSW |
12 |
76,485,936 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6443:Ppp1r36
|
UTSW |
12 |
76,464,413 (GRCm39) |
missense |
probably benign |
|
R6612:Ppp1r36
|
UTSW |
12 |
76,484,378 (GRCm39) |
missense |
possibly damaging |
0.52 |
R6756:Ppp1r36
|
UTSW |
12 |
76,474,696 (GRCm39) |
missense |
probably benign |
0.28 |
R7896:Ppp1r36
|
UTSW |
12 |
76,474,923 (GRCm39) |
splice site |
probably null |
|
R7938:Ppp1r36
|
UTSW |
12 |
76,485,180 (GRCm39) |
missense |
probably damaging |
0.99 |
R8377:Ppp1r36
|
UTSW |
12 |
76,485,215 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8468:Ppp1r36
|
UTSW |
12 |
76,482,979 (GRCm39) |
missense |
probably damaging |
0.98 |
R8784:Ppp1r36
|
UTSW |
12 |
76,485,967 (GRCm39) |
missense |
probably benign |
0.00 |
R9567:Ppp1r36
|
UTSW |
12 |
76,485,900 (GRCm39) |
missense |
probably benign |
0.06 |
R9720:Ppp1r36
|
UTSW |
12 |
76,485,298 (GRCm39) |
missense |
possibly damaging |
0.87 |
X0025:Ppp1r36
|
UTSW |
12 |
76,473,584 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2016-08-02 |