Incidental Mutation 'R6756:Ppp1r36'
| ID |
531067 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r36
|
| Ensembl Gene |
ENSMUSG00000052221 |
| Gene Name |
protein phosphatase 1, regulatory subunit 36 |
| Synonyms |
|
| MMRRC Submission |
044872-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R6756 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
76464312-76486266 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 76474696 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 64
(A64T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152006
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063977]
[ENSMUST00000220187]
|
| AlphaFold |
D3Z0R2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063977
AA Change: A93T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000069849
Gene: ENSMUSG00000052221
AA Change: A93T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PPPI_inhib
|
52 |
402 |
5.7e-109 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218732
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220187
AA Change: A64T
PolyPhen 2
Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
C |
T |
1: 71,298,512 (GRCm39) |
|
probably null |
Het |
| Adam7 |
T |
C |
14: 68,762,728 (GRCm39) |
T166A |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,984,925 (GRCm39) |
V2070M |
possibly damaging |
Het |
| Atp6v1a |
T |
A |
16: 43,909,421 (GRCm39) |
T537S |
probably benign |
Het |
| Atp8b3 |
C |
T |
10: 80,361,895 (GRCm39) |
E719K |
possibly damaging |
Het |
| Clba1 |
T |
C |
12: 112,775,820 (GRCm39) |
L192P |
probably damaging |
Het |
| Dpy19l1 |
T |
C |
9: 24,385,080 (GRCm39) |
T250A |
probably damaging |
Het |
| Fra10ac1 |
A |
C |
19: 38,204,313 (GRCm39) |
Y88D |
probably damaging |
Het |
| Gm21738 |
C |
T |
14: 19,418,824 (GRCm38) |
V35I |
possibly damaging |
Het |
| H2-M9 |
G |
T |
17: 36,953,227 (GRCm39) |
H27N |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,008,303 (GRCm39) |
C1634R |
probably damaging |
Het |
| Meiob |
A |
T |
17: 25,058,506 (GRCm39) |
T470S |
possibly damaging |
Het |
| Ms4a7 |
T |
C |
19: 11,301,889 (GRCm39) |
H35R |
possibly damaging |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,335,413 (GRCm39) |
|
probably null |
Het |
| Npc1l1 |
T |
C |
11: 6,165,153 (GRCm39) |
Y1053C |
probably damaging |
Het |
| Or4p21 |
T |
C |
2: 88,277,078 (GRCm39) |
D68G |
possibly damaging |
Het |
| Or51a25 |
T |
C |
7: 102,373,295 (GRCm39) |
N134S |
probably benign |
Het |
| Pcdh10 |
T |
C |
3: 45,334,541 (GRCm39) |
V285A |
possibly damaging |
Het |
| Phldb2 |
A |
T |
16: 45,628,683 (GRCm39) |
C550S |
probably benign |
Het |
| Phldb3 |
T |
C |
7: 24,326,756 (GRCm39) |
Y595H |
probably damaging |
Het |
| Plekha8 |
C |
T |
6: 54,601,125 (GRCm39) |
Q288* |
probably null |
Het |
| Ptprd |
T |
C |
4: 75,873,536 (GRCm39) |
T1320A |
probably damaging |
Het |
| R3hdm1 |
GAA |
GAAA |
1: 128,090,548 (GRCm39) |
|
probably null |
Het |
| Recql4 |
T |
C |
15: 76,589,059 (GRCm39) |
D943G |
probably benign |
Het |
| Slc24a2 |
A |
G |
4: 87,094,529 (GRCm39) |
I330T |
probably benign |
Het |
| Srcin1 |
T |
C |
11: 97,425,836 (GRCm39) |
D433G |
probably damaging |
Het |
| Upb1 |
A |
G |
10: 75,264,135 (GRCm39) |
T194A |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAAGCCAATTCCCTGTG -3'
(R):5'- GCATTTCAGTGTCCTGGAGG -3'
Sequencing Primer
(F):5'- GGACACAGATTTGACTCCTAGAGCTC -3'
(R):5'- TCCTGGAGGGACAGCAG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation