Incidental Mutation 'R7360:Ppm1g'
| ID |
571253 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppm1g
|
| Ensembl Gene |
ENSMUSG00000029147 |
| Gene Name |
protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform |
| Synonyms |
Fin13 |
| MMRRC Submission |
045446-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7360 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31360012-31377889 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31360621 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 478
(D478G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031032
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031029]
[ENSMUST00000031032]
[ENSMUST00000031562]
[ENSMUST00000114590]
[ENSMUST00000200730]
[ENSMUST00000201231]
[ENSMUST00000201407]
[ENSMUST00000201968]
[ENSMUST00000202124]
[ENSMUST00000202294]
[ENSMUST00000202929]
|
| AlphaFold |
Q61074 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031029
|
| SMART Domains |
Protein: ENSMUSP00000031029
Gene: ENSMUSG00000029146
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
1 |
105 |
3.42e-24 |
SMART |
|
B41
|
113 |
274 |
4.05e-2 |
SMART |
|
low complexity region
|
324 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
441 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031032
AA Change: D478G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000031032
Gene: ENSMUSG00000029147
AA Change: D478G
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Cc
|
15 |
500 |
9.7e-103 |
SMART |
|
PP2C_SIG
|
219 |
502 |
1.05e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031562
|
| SMART Domains |
Protein: ENSMUSP00000031562
Gene: ENSMUSG00000043059
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
144 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
148 |
170 |
1.33e-1 |
SMART |
|
ZnF_C2H2
|
176 |
198 |
2.86e-1 |
SMART |
|
ZnF_C2H2
|
204 |
226 |
1.06e-4 |
SMART |
|
low complexity region
|
227 |
238 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
354 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
358 |
380 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
386 |
408 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
414 |
436 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
470 |
492 |
5.06e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114590
|
| SMART Domains |
Protein: ENSMUSP00000110238
Gene: ENSMUSG00000043059
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
119 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
146 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
150 |
172 |
1.33e-1 |
SMART |
|
ZnF_C2H2
|
178 |
200 |
2.86e-1 |
SMART |
|
ZnF_C2H2
|
206 |
228 |
1.06e-4 |
SMART |
|
low complexity region
|
229 |
240 |
N/A |
INTRINSIC |
|
low complexity region
|
342 |
356 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
360 |
382 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
388 |
410 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
416 |
438 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
444 |
466 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
472 |
494 |
5.06e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200730
|
| SMART Domains |
Protein: ENSMUSP00000144504
Gene: ENSMUSG00000029146
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
1 |
87 |
2.3e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200778
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201231
|
| SMART Domains |
Protein: ENSMUSP00000144172
Gene: ENSMUSG00000043059
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
55 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201407
|
| SMART Domains |
Protein: ENSMUSP00000144556
Gene: ENSMUSG00000029147
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PP2Cc
|
1 |
155 |
4e-87 |
BLAST |
|
low complexity region
|
156 |
173 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201968
|
| SMART Domains |
Protein: ENSMUSP00000144517
Gene: ENSMUSG00000043059
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
80 |
92 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202124
|
| SMART Domains |
Protein: ENSMUSP00000144168
Gene: ENSMUSG00000029146
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PX
|
1 |
31 |
6e-8 |
BLAST |
|
PDB:3LUI|C
|
1 |
31 |
4e-9 |
PDB |
|
low complexity region
|
41 |
54 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202294
AA Change: D371G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144644
Gene: ENSMUSG00000029147
AA Change: D371G
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Cc
|
15 |
393 |
6.6e-105 |
SMART |
|
PP2C_SIG
|
38 |
395 |
3.7e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202929
|
| SMART Domains |
Protein: ENSMUSP00000143817
Gene: ENSMUSG00000043059
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
67 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.4921 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (54/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase is found to be responsible for the dephosphorylation of Pre-mRNA splicing factors, which is important for the formation of functional spliceosome. Studies of a similar gene in mice suggested a role of this phosphatase in regulating cell cycle progression. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a targeted mutation display perinatal lethality. Mice heterozygous for a targeted mutation display a decrease in prepulse inhibition. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
G |
C |
4: 106,606,548 (GRCm39) |
P534A |
possibly damaging |
Het |
| Arhgef26 |
T |
A |
3: 62,355,626 (GRCm39) |
Y733N |
possibly damaging |
Het |
| Aste1 |
G |
T |
9: 105,274,835 (GRCm39) |
M358I |
probably damaging |
Het |
| B4galnt3 |
C |
T |
6: 120,209,940 (GRCm39) |
W61* |
probably null |
Het |
| Brd9 |
C |
T |
13: 74,092,942 (GRCm39) |
R311W |
probably benign |
Het |
| Cdkn1c |
T |
C |
7: 143,014,431 (GRCm39) |
D5G |
possibly damaging |
Het |
| Cerk |
A |
G |
15: 86,043,327 (GRCm39) |
F158S |
probably damaging |
Het |
| Clec2m |
C |
T |
6: 129,303,710 (GRCm39) |
R85H |
probably benign |
Het |
| Cnot4 |
T |
A |
6: 35,041,941 (GRCm39) |
E235V |
probably damaging |
Het |
| Crmp1 |
T |
C |
5: 37,433,624 (GRCm39) |
V275A |
possibly damaging |
Het |
| Dcbld2 |
C |
A |
16: 58,285,683 (GRCm39) |
|
probably null |
Het |
| Dip2a |
T |
C |
10: 76,114,394 (GRCm39) |
R1029G |
probably damaging |
Het |
| Dnaaf1 |
A |
G |
8: 120,304,090 (GRCm39) |
T43A |
probably benign |
Het |
| Eaf2 |
C |
T |
16: 36,648,514 (GRCm39) |
S2N |
probably benign |
Het |
| Eif2b4 |
T |
C |
5: 31,348,719 (GRCm39) |
D164G |
probably benign |
Het |
| Fpgs |
T |
C |
2: 32,584,005 (GRCm39) |
Y45C |
possibly damaging |
Het |
| Gm1527 |
C |
T |
3: 28,968,691 (GRCm39) |
Q248* |
probably null |
Het |
| Gm29666 |
C |
T |
15: 84,798,469 (GRCm39) |
A31T |
unknown |
Het |
| Gmip |
C |
A |
8: 70,263,892 (GRCm39) |
A112D |
probably damaging |
Het |
| Hibadh |
C |
T |
6: 52,617,197 (GRCm39) |
G13S |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,494,597 (GRCm39) |
V4164D |
probably damaging |
Het |
| Kif15 |
A |
T |
9: 122,820,202 (GRCm39) |
N580I |
probably benign |
Het |
| Krt25 |
G |
A |
11: 99,208,232 (GRCm39) |
T332M |
probably benign |
Het |
| Krt88 |
G |
T |
15: 101,345,643 (GRCm39) |
|
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,615,858 (GRCm39) |
|
probably null |
Het |
| Mapkapk5 |
A |
G |
5: 121,675,169 (GRCm39) |
|
probably benign |
Het |
| Myh7b |
C |
T |
2: 155,474,460 (GRCm39) |
S1725L |
probably benign |
Het |
| Nckap1l |
T |
G |
15: 103,384,526 (GRCm39) |
|
probably null |
Het |
| Nphp3 |
A |
G |
9: 103,893,277 (GRCm39) |
|
probably null |
Het |
| Obscn |
A |
C |
11: 58,973,185 (GRCm39) |
V1996G |
probably damaging |
Het |
| Or14j8 |
T |
A |
17: 38,263,900 (GRCm39) |
N5I |
probably damaging |
Het |
| Or4a66 |
A |
T |
2: 88,531,331 (GRCm39) |
V114E |
probably damaging |
Het |
| Parp8 |
T |
C |
13: 117,032,307 (GRCm39) |
T289A |
probably benign |
Het |
| Pcsk5 |
T |
C |
19: 17,492,577 (GRCm39) |
K932R |
probably benign |
Het |
| Pde4dip |
T |
C |
3: 97,625,632 (GRCm39) |
D1322G |
probably benign |
Het |
| Peli3 |
A |
T |
19: 4,985,103 (GRCm39) |
M136K |
possibly damaging |
Het |
| Pgm5 |
A |
G |
19: 24,812,181 (GRCm39) |
I117T |
probably damaging |
Het |
| Ppp2r5c |
A |
G |
12: 110,541,272 (GRCm39) |
T474A |
probably benign |
Het |
| Ptger3 |
T |
C |
3: 157,272,764 (GRCm39) |
V37A |
probably benign |
Het |
| Ptprz1 |
T |
C |
6: 23,000,906 (GRCm39) |
S999P |
probably damaging |
Het |
| Pygl |
C |
T |
12: 70,274,306 (GRCm39) |
G18S |
probably benign |
Het |
| Rest |
T |
C |
5: 77,428,976 (GRCm39) |
V465A |
probably benign |
Het |
| Sart1 |
T |
C |
19: 5,433,231 (GRCm39) |
D422G |
probably damaging |
Het |
| Sgk1 |
A |
G |
10: 21,869,972 (GRCm39) |
M4V |
probably benign |
Het |
| Slc33a1 |
A |
G |
3: 63,855,075 (GRCm39) |
V395A |
possibly damaging |
Het |
| Slc38a11 |
A |
T |
2: 65,184,139 (GRCm39) |
S171T |
possibly damaging |
Het |
| Slc4a2 |
T |
A |
5: 24,634,713 (GRCm39) |
S76T |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,132,341 (GRCm39) |
D223G |
unknown |
Het |
| Ssc4d |
T |
A |
5: 135,994,965 (GRCm39) |
S184C |
probably damaging |
Het |
| Tspoap1 |
A |
G |
11: 87,669,347 (GRCm39) |
Y1540C |
probably benign |
Het |
| Ube3a |
T |
A |
7: 58,926,383 (GRCm39) |
L408Q |
probably damaging |
Het |
| Usp43 |
C |
A |
11: 67,767,155 (GRCm39) |
|
probably null |
Het |
| Zan |
A |
C |
5: 137,385,232 (GRCm39) |
V5067G |
unknown |
Het |
| Zfp180 |
C |
A |
7: 23,804,915 (GRCm39) |
L445I |
probably damaging |
Het |
|
| Other mutations in Ppm1g |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02517:Ppm1g
|
APN |
5 |
31,365,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0843:Ppm1g
|
UTSW |
5 |
31,364,895 (GRCm39) |
splice site |
probably benign |
|
|
R1483:Ppm1g
|
UTSW |
5 |
31,360,465 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1750:Ppm1g
|
UTSW |
5 |
31,363,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5611:Ppm1g
|
UTSW |
5 |
31,363,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5776:Ppm1g
|
UTSW |
5 |
31,362,454 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6274:Ppm1g
|
UTSW |
5 |
31,363,750 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6450:Ppm1g
|
UTSW |
5 |
31,360,468 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7642:Ppm1g
|
UTSW |
5 |
31,362,447 (GRCm39) |
nonsense |
probably null |
|
|
R8508:Ppm1g
|
UTSW |
5 |
31,361,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8828:Ppm1g
|
UTSW |
5 |
31,365,768 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8905:Ppm1g
|
UTSW |
5 |
31,361,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9720:Ppm1g
|
UTSW |
5 |
31,360,914 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Ppm1g
|
UTSW |
5 |
31,377,780 (GRCm39) |
start gained |
probably benign |
|
|
Z1177:Ppm1g
|
UTSW |
5 |
31,377,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAAACAGTCCACATGGGC -3'
(R):5'- CATTTCCCTGATGTAGCCTTGG -3'
Sequencing Primer
(F):5'- GTCCGGTTGACCACTAGTC -3'
(R):5'- GGGCCTCAGAAATTCACAGGTTTC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation