Incidental Mutation 'R3918:Ppp1r36'
ID |
307513 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp1r36
|
Ensembl Gene |
ENSMUSG00000052221 |
Gene Name |
protein phosphatase 1, regulatory subunit 36 |
Synonyms |
|
MMRRC Submission |
040816-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R3918 (G1)
|
Quality Score |
183 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
76464312-76486266 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 76464431 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 10
(V10I)
|
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: V10I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000069849 Gene: ENSMUSG00000052221 AA Change: V10I
Domain | Start | End | E-Value | Type |
Pfam:PPPI_inhib
|
52 |
402 |
5.7e-109 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104603
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218732
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220187
AA Change: V10I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
T |
C |
8: 111,766,774 (GRCm39) |
I52T |
probably damaging |
Het |
Adhfe1 |
G |
A |
1: 9,646,441 (GRCm39) |
R447H |
probably damaging |
Het |
Ak7 |
A |
G |
12: 105,676,515 (GRCm39) |
K72E |
probably benign |
Het |
Best2 |
T |
G |
8: 85,736,353 (GRCm39) |
D270A |
probably damaging |
Het |
Brinp3 |
C |
A |
1: 146,627,599 (GRCm39) |
D277E |
probably damaging |
Het |
Col18a1 |
T |
C |
10: 76,889,192 (GRCm39) |
M1721V |
probably benign |
Het |
Ctnnal1 |
T |
C |
4: 56,865,000 (GRCm39) |
T39A |
possibly damaging |
Het |
Dnah9 |
T |
A |
11: 65,761,800 (GRCm39) |
M3897L |
possibly damaging |
Het |
Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
Egf |
T |
C |
3: 129,490,509 (GRCm39) |
I395V |
probably null |
Het |
Fbln5 |
C |
T |
12: 101,717,050 (GRCm39) |
G446D |
probably damaging |
Het |
Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
Hmcn1 |
G |
C |
1: 150,566,361 (GRCm39) |
T2214S |
probably benign |
Het |
Lef1 |
A |
G |
3: 130,905,290 (GRCm39) |
N57S |
probably damaging |
Het |
Lpin1 |
A |
G |
12: 16,621,190 (GRCm39) |
S266P |
probably benign |
Het |
Marveld2 |
T |
C |
13: 100,748,401 (GRCm39) |
Q226R |
probably benign |
Het |
Mest |
G |
A |
6: 30,742,749 (GRCm39) |
S132N |
probably benign |
Het |
Mras |
T |
A |
9: 99,293,473 (GRCm39) |
I56F |
probably damaging |
Het |
Myh13 |
G |
A |
11: 67,220,064 (GRCm39) |
E138K |
probably benign |
Het |
Nsun2 |
A |
G |
13: 69,778,799 (GRCm39) |
T516A |
probably damaging |
Het |
Ola1 |
A |
G |
2: 72,972,683 (GRCm39) |
V200A |
probably benign |
Het |
Or5ak24 |
A |
T |
2: 85,261,074 (GRCm39) |
V33D |
possibly damaging |
Het |
Patj |
C |
A |
4: 98,344,455 (GRCm39) |
P20H |
probably damaging |
Het |
Pcdhb12 |
T |
A |
18: 37,570,101 (GRCm39) |
W416R |
probably benign |
Het |
Pcdhga9 |
G |
A |
18: 37,871,995 (GRCm39) |
R608H |
probably benign |
Het |
Pola1 |
C |
A |
X: 92,505,078 (GRCm39) |
R1313L |
probably benign |
Het |
Rnf150 |
C |
T |
8: 83,591,090 (GRCm39) |
T151I |
probably benign |
Het |
Tank |
G |
T |
2: 61,474,130 (GRCm39) |
|
probably null |
Het |
Tmprss4 |
C |
T |
9: 45,091,964 (GRCm39) |
V174M |
probably benign |
Het |
Trappc13 |
T |
C |
13: 104,297,590 (GRCm39) |
T105A |
probably damaging |
Het |
Tut7 |
A |
G |
13: 59,929,838 (GRCm39) |
S1066P |
probably damaging |
Het |
Txndc9 |
G |
A |
1: 38,033,131 (GRCm39) |
Q84* |
probably null |
Het |
Ubr3 |
A |
T |
2: 69,846,474 (GRCm39) |
|
probably null |
Het |
Wfs1 |
C |
A |
5: 37,125,968 (GRCm39) |
V308L |
probably benign |
Het |
Zfp51 |
A |
G |
17: 21,683,702 (GRCm39) |
K106E |
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 |
|
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CAATCAAAGCACAGCGTGAG -3'
(R):5'- CTCCCTATAGAGTCCCTACTGG -3'
Sequencing Primer
(F):5'- GCGTGTTACTGCAGGAAGC -3'
(R):5'- GACCAGGCTGCACTTAC -3'
|
Posted On |
2015-04-17 |