Incidental Mutation 'R6443:Ppp1r36'
| ID |
519103 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r36
|
| Ensembl Gene |
ENSMUSG00000052221 |
| Gene Name |
protein phosphatase 1, regulatory subunit 36 |
| Synonyms |
|
| MMRRC Submission |
044581-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R6443 (G1)
|
| Quality Score |
164.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
76464312-76486266 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76464413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 4
(S4G)
|
| 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: S4G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000069849
Gene: ENSMUSG00000052221
AA Change: S4G
| 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: S4G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 91.9%
|
| Validation Efficiency |
97% (37/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdhppt |
A |
G |
9: 4,309,357 (GRCm39) |
L27P |
probably damaging |
Het |
| Actr6 |
T |
C |
10: 89,550,733 (GRCm39) |
N354D |
probably damaging |
Het |
| Apbb1 |
T |
A |
7: 105,222,970 (GRCm39) |
N214Y |
probably damaging |
Het |
| Bcar1 |
A |
T |
8: 112,441,970 (GRCm39) |
V290E |
probably damaging |
Het |
| Ces1f |
T |
A |
8: 94,001,993 (GRCm39) |
Q45L |
probably benign |
Het |
| Ctss |
A |
C |
3: 95,454,114 (GRCm39) |
K221T |
probably benign |
Het |
| Dclre1b |
T |
A |
3: 103,710,504 (GRCm39) |
N469I |
possibly damaging |
Het |
| Dnah12 |
C |
A |
14: 26,600,008 (GRCm39) |
Q3683K |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,990,859 (GRCm39) |
I3301V |
probably benign |
Het |
| Ephb4 |
G |
A |
5: 137,358,711 (GRCm39) |
G298E |
probably damaging |
Het |
| Eya3 |
T |
C |
4: 132,439,238 (GRCm39) |
F455L |
probably damaging |
Het |
| Fkbp5 |
G |
T |
17: 28,648,253 (GRCm39) |
A112D |
probably damaging |
Het |
| Glud1 |
T |
C |
14: 34,061,884 (GRCm39) |
M468T |
probably benign |
Het |
| Gm5114 |
C |
A |
7: 39,057,141 (GRCm39) |
R826L |
possibly damaging |
Het |
| Gramd2b |
G |
A |
18: 56,618,457 (GRCm39) |
V222I |
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Lpin2 |
T |
C |
17: 71,548,663 (GRCm39) |
S576P |
probably benign |
Het |
| Lrrc1 |
A |
G |
9: 77,341,314 (GRCm39) |
F415L |
probably damaging |
Het |
| Mtmr3 |
A |
T |
11: 4,437,358 (GRCm39) |
I1032K |
probably damaging |
Het |
| Nr5a1 |
G |
A |
2: 38,600,442 (GRCm39) |
T75M |
probably damaging |
Het |
| Nwd1 |
G |
A |
8: 73,388,994 (GRCm39) |
V141I |
possibly damaging |
Het |
| Or1e1b-ps1 |
A |
T |
11: 73,845,918 (GRCm39) |
Q134L |
probably benign |
Het |
| Or5ar1 |
T |
G |
2: 85,671,979 (GRCm39) |
D52A |
probably damaging |
Het |
| Or6c214 |
C |
A |
10: 129,591,277 (GRCm39) |
G14V |
probably damaging |
Het |
| Pla1a |
T |
C |
16: 38,229,949 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
| Ryr1 |
A |
T |
7: 28,776,503 (GRCm39) |
M2204K |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,506,278 (GRCm39) |
N3428S |
possibly damaging |
Het |
| Slc6a4 |
A |
G |
11: 76,914,027 (GRCm39) |
K526E |
probably benign |
Het |
| Slc9a8 |
G |
A |
2: 167,276,741 (GRCm39) |
R78H |
probably benign |
Het |
| Sptbn1 |
T |
C |
11: 30,089,429 (GRCm39) |
D611G |
possibly damaging |
Het |
| Sstr2 |
G |
A |
11: 113,516,080 (GRCm39) |
|
probably null |
Het |
| Tcf7 |
G |
T |
11: 52,144,765 (GRCm39) |
T286N |
probably benign |
Het |
| Txndc5 |
A |
G |
13: 38,712,179 (GRCm39) |
M69T |
possibly damaging |
Het |
| Usp48 |
T |
A |
4: 137,341,074 (GRCm39) |
V358E |
probably damaging |
Het |
| Vmn2r1 |
T |
A |
3: 64,012,374 (GRCm39) |
I745K |
possibly damaging |
Het |
| Zfp354b |
A |
G |
11: 50,813,581 (GRCm39) |
I448T |
possibly damaging |
Het |
| Zfp523 |
A |
T |
17: 28,420,381 (GRCm39) |
T189S |
probably 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 |
|
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'- AGCAGTTTGGAACAGGTCTTTC -3'
(R):5'- CTCCCTATAGAGTCCCTACTGG -3'
Sequencing Primer
(F):5'- CAGTTTGGAACAGGTCTTTCCTACAG -3'
(R):5'- GACCAGGCTGCACTTAC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation