Incidental Mutation 'R2882:Ppm1h'
| ID |
260353 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppm1h
|
| Ensembl Gene |
ENSMUSG00000034613 |
| Gene Name |
protein phosphatase 1H (PP2C domain containing) |
| Synonyms |
C030002B11Rik, ARHCL1, A430075L18Rik |
| MMRRC Submission |
040470-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R2882 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
122514667-122781700 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 122777239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 502
(Y502N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067918]
[ENSMUST00000162969]
|
| AlphaFold |
Q3UYC0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067918
AA Change: Y502N
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000066561
Gene: ENSMUSG00000034613
AA Change: Y502N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
33 |
N/A |
INTRINSIC |
|
PP2Cc
|
67 |
504 |
1.22e-35 |
SMART |
|
PP2C_SIG
|
136 |
506 |
1.59e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161065
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162969
AA Change: Y121N
PolyPhen 2
Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000124006
Gene: ENSMUSG00000034613
AA Change: Y121N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PP2C
|
2 |
99 |
2.9e-14 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp9a |
T |
C |
2: 168,548,134 (GRCm39) |
Y7C |
probably damaging |
Het |
| Atxn3 |
C |
A |
12: 101,903,670 (GRCm39) |
L178F |
probably damaging |
Het |
| Cep112 |
T |
C |
11: 108,410,038 (GRCm39) |
S211P |
possibly damaging |
Het |
| Csl |
A |
G |
10: 99,594,787 (GRCm39) |
F93L |
probably damaging |
Het |
| Cyp4f40 |
A |
G |
17: 32,887,047 (GRCm39) |
I173V |
probably benign |
Het |
| Dcaf17 |
A |
G |
2: 70,912,371 (GRCm39) |
I319V |
possibly damaging |
Het |
| Dock5 |
T |
C |
14: 68,077,069 (GRCm39) |
Y258C |
probably damaging |
Het |
| Dpp10 |
T |
C |
1: 123,372,932 (GRCm39) |
E236G |
probably damaging |
Het |
| Dpyd |
A |
G |
3: 118,858,679 (GRCm39) |
D631G |
probably damaging |
Het |
| Ewsr1 |
C |
A |
11: 5,028,523 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
C |
A |
11: 55,202,131 (GRCm39) |
L314F |
probably damaging |
Het |
| Gsdmc |
T |
C |
15: 63,651,644 (GRCm39) |
I259V |
probably benign |
Het |
| Hydin |
C |
T |
8: 111,293,555 (GRCm39) |
L3501F |
possibly damaging |
Het |
| Kdm2a |
A |
G |
19: 4,381,212 (GRCm39) |
|
probably null |
Het |
| Klra1 |
A |
T |
6: 130,354,826 (GRCm39) |
|
probably null |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
| Minar1 |
C |
T |
9: 89,484,855 (GRCm39) |
V181I |
possibly damaging |
Het |
| Mlh3 |
A |
T |
12: 85,314,340 (GRCm39) |
H615Q |
probably damaging |
Het |
| Mmp12 |
A |
G |
9: 7,358,236 (GRCm39) |
Y374C |
probably damaging |
Het |
| Mpp2 |
T |
C |
11: 101,955,459 (GRCm39) |
E97G |
probably benign |
Het |
| Oasl2 |
C |
T |
5: 115,049,084 (GRCm39) |
R175C |
probably damaging |
Het |
| Or1j19 |
A |
T |
2: 36,677,202 (GRCm39) |
I222F |
probably damaging |
Het |
| Pcdhac2 |
A |
T |
18: 37,278,865 (GRCm39) |
Q615L |
probably damaging |
Het |
| Slc5a11 |
GGTGC |
G |
7: 122,838,595 (GRCm39) |
|
probably null |
Het |
| Spata31d1e |
C |
A |
13: 59,890,757 (GRCm39) |
Q354H |
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,064,935 (GRCm39) |
L1455* |
probably null |
Het |
| Tgm6 |
T |
C |
2: 129,979,359 (GRCm39) |
V163A |
probably benign |
Het |
| Tlr5 |
C |
T |
1: 182,801,458 (GRCm39) |
T240M |
probably damaging |
Het |
| Washc4 |
T |
C |
10: 83,415,365 (GRCm39) |
I785T |
possibly damaging |
Het |
|
| Other mutations in Ppm1h |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01025:Ppm1h
|
APN |
10 |
122,714,534 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01060:Ppm1h
|
APN |
10 |
122,743,476 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL01557:Ppm1h
|
APN |
10 |
122,618,086 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01608:Ppm1h
|
APN |
10 |
122,777,185 (GRCm39) |
nonsense |
probably null |
|
|
IGL02112:Ppm1h
|
APN |
10 |
122,638,305 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0129:Ppm1h
|
UTSW |
10 |
122,777,260 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0217:Ppm1h
|
UTSW |
10 |
122,756,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0309:Ppm1h
|
UTSW |
10 |
122,756,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0455:Ppm1h
|
UTSW |
10 |
122,638,229 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1144:Ppm1h
|
UTSW |
10 |
122,777,183 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1430:Ppm1h
|
UTSW |
10 |
122,693,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2014:Ppm1h
|
UTSW |
10 |
122,756,630 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2021:Ppm1h
|
UTSW |
10 |
122,714,433 (GRCm39) |
nonsense |
probably null |
|
|
R3767:Ppm1h
|
UTSW |
10 |
122,740,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3768:Ppm1h
|
UTSW |
10 |
122,740,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3770:Ppm1h
|
UTSW |
10 |
122,740,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4816:Ppm1h
|
UTSW |
10 |
122,515,284 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4996:Ppm1h
|
UTSW |
10 |
122,777,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5640:Ppm1h
|
UTSW |
10 |
122,618,183 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6199:Ppm1h
|
UTSW |
10 |
122,756,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7759:Ppm1h
|
UTSW |
10 |
122,740,018 (GRCm39) |
missense |
probably benign |
|
|
R7991:Ppm1h
|
UTSW |
10 |
122,618,152 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8160:Ppm1h
|
UTSW |
10 |
122,638,341 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8300:Ppm1h
|
UTSW |
10 |
122,618,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8906:Ppm1h
|
UTSW |
10 |
122,714,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9104:Ppm1h
|
UTSW |
10 |
122,638,264 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9459:Ppm1h
|
UTSW |
10 |
122,743,482 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9755:Ppm1h
|
UTSW |
10 |
122,638,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATGTGTGACCATAGTGATGC -3'
(R):5'- AAAACCAGAGAGGCCTTTGG -3'
Sequencing Primer
(F):5'- GTGTGACCATAGTGATGCTTCCTTTC -3'
(R):5'- TTTGGGCAGCAAACTCCC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation