Incidental Mutation 'IGL01744:Ppp1r36'
| ID |
152965 |
| 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 # |
IGL01744
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
76464312-76486266 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 76486006 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 388
(N388I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069849
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063977]
|
| AlphaFold |
D3Z0R2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063977
AA Change: N388I
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000069849
Gene: ENSMUSG00000052221
AA Change: N388I
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
T |
C |
7: 12,284,459 (GRCm39) |
I102T |
possibly damaging |
Het |
| 4933412E24Rik |
C |
A |
15: 59,887,424 (GRCm39) |
A339S |
possibly damaging |
Het |
| Ackr2 |
A |
G |
9: 121,738,185 (GRCm39) |
T187A |
probably benign |
Het |
| Adam28 |
A |
G |
14: 68,844,956 (GRCm39) |
V777A |
probably benign |
Het |
| Add3 |
T |
A |
19: 53,227,861 (GRCm39) |
D515E |
probably damaging |
Het |
| Aire |
C |
A |
10: 77,872,557 (GRCm39) |
E354* |
probably null |
Het |
| AW551984 |
T |
C |
9: 39,502,568 (GRCm39) |
K670R |
probably benign |
Het |
| Bahcc1 |
T |
C |
11: 120,162,563 (GRCm39) |
V287A |
probably benign |
Het |
| Brca1 |
T |
C |
11: 101,415,002 (GRCm39) |
N1044S |
possibly damaging |
Het |
| Bub1b |
T |
A |
2: 118,467,230 (GRCm39) |
I851N |
probably damaging |
Het |
| Ceacam11 |
A |
T |
7: 17,707,323 (GRCm39) |
I36F |
possibly damaging |
Het |
| Copa |
A |
G |
1: 171,940,756 (GRCm39) |
E714G |
probably benign |
Het |
| Cth |
A |
T |
3: 157,630,572 (GRCm39) |
N32K |
probably benign |
Het |
| Cyp2a5 |
T |
A |
7: 26,540,434 (GRCm39) |
M349K |
probably damaging |
Het |
| D130052B06Rik |
A |
G |
11: 33,573,966 (GRCm39) |
S188G |
unknown |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Flt1 |
T |
C |
5: 147,508,271 (GRCm39) |
N1161S |
probably benign |
Het |
| Hip1 |
T |
C |
5: 135,573,917 (GRCm39) |
|
probably benign |
Het |
| Mapk11 |
A |
G |
15: 89,031,046 (GRCm39) |
|
probably benign |
Het |
| Mtif2 |
A |
G |
11: 29,494,417 (GRCm39) |
|
probably benign |
Het |
| Myo1f |
C |
A |
17: 33,802,654 (GRCm39) |
|
probably benign |
Het |
| Nipsnap1 |
G |
A |
11: 4,839,912 (GRCm39) |
R211H |
probably damaging |
Het |
| Or52ab4 |
A |
G |
7: 102,987,435 (GRCm39) |
H58R |
probably damaging |
Het |
| Or6c35 |
T |
C |
10: 129,169,326 (GRCm39) |
I192T |
probably benign |
Het |
| Pcdh1 |
A |
T |
18: 38,336,302 (GRCm39) |
I111N |
probably damaging |
Het |
| Piezo2 |
T |
A |
18: 63,175,859 (GRCm39) |
I1841F |
probably damaging |
Het |
| Pirb |
G |
T |
7: 3,720,175 (GRCm39) |
Y399* |
probably null |
Het |
| Prr16 |
A |
G |
18: 51,436,061 (GRCm39) |
D180G |
possibly damaging |
Het |
| Prss39 |
A |
G |
1: 34,541,280 (GRCm39) |
|
probably null |
Het |
| Spopfm2 |
T |
A |
3: 94,083,544 (GRCm39) |
K89M |
probably damaging |
Het |
| Trank1 |
T |
A |
9: 111,178,431 (GRCm39) |
V373D |
probably damaging |
Het |
| Ubn1 |
A |
G |
16: 4,889,923 (GRCm39) |
E186G |
probably damaging |
Het |
| Zmym2 |
T |
C |
14: 57,184,029 (GRCm39) |
V997A |
probably benign |
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 |
|
|
IGL03295:Ppp1r36
|
APN |
12 |
76,485,192 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
2014-02-04 |
Incidental Mutation