Incidental Mutation 'R3692:Ppp1r10'
ID |
268844 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp1r10
|
Ensembl Gene |
ENSMUSG00000039220 |
Gene Name |
protein phosphatase 1, regulatory subunit 10 |
Synonyms |
PNUTS, 2610025H06Rik, D17Ertd808e |
MMRRC Submission |
040687-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3692 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
36227404-36243175 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 36241760 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 845
(D845G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084461
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087210]
[ENSMUST00000087211]
|
AlphaFold |
Q80W00 |
Predicted Effect |
unknown
Transcript: ENSMUST00000087210
AA Change: D845G
|
SMART Domains |
Protein: ENSMUSP00000084460 Gene: ENSMUSG00000039220 AA Change: D845G
Domain | Start | End | E-Value | Type |
TFS2N
|
74 |
146 |
2.23e-22 |
SMART |
low complexity region
|
154 |
165 |
N/A |
INTRINSIC |
low complexity region
|
179 |
196 |
N/A |
INTRINSIC |
low complexity region
|
248 |
259 |
N/A |
INTRINSIC |
low complexity region
|
303 |
310 |
N/A |
INTRINSIC |
low complexity region
|
335 |
346 |
N/A |
INTRINSIC |
low complexity region
|
355 |
363 |
N/A |
INTRINSIC |
PDB:4MP0|D
|
393 |
433 |
8e-22 |
PDB |
low complexity region
|
502 |
517 |
N/A |
INTRINSIC |
low complexity region
|
540 |
552 |
N/A |
INTRINSIC |
low complexity region
|
566 |
578 |
N/A |
INTRINSIC |
low complexity region
|
621 |
639 |
N/A |
INTRINSIC |
low complexity region
|
644 |
759 |
N/A |
INTRINSIC |
low complexity region
|
781 |
812 |
N/A |
INTRINSIC |
low complexity region
|
815 |
853 |
N/A |
INTRINSIC |
ZnF_C3H1
|
855 |
881 |
5.76e-6 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000087211
AA Change: D845G
|
SMART Domains |
Protein: ENSMUSP00000084461 Gene: ENSMUSG00000039220 AA Change: D845G
Domain | Start | End | E-Value | Type |
TFS2N
|
74 |
146 |
2.23e-22 |
SMART |
low complexity region
|
154 |
165 |
N/A |
INTRINSIC |
low complexity region
|
179 |
196 |
N/A |
INTRINSIC |
low complexity region
|
248 |
259 |
N/A |
INTRINSIC |
low complexity region
|
303 |
310 |
N/A |
INTRINSIC |
low complexity region
|
335 |
346 |
N/A |
INTRINSIC |
low complexity region
|
355 |
363 |
N/A |
INTRINSIC |
PDB:4MP0|D
|
393 |
433 |
8e-22 |
PDB |
low complexity region
|
502 |
517 |
N/A |
INTRINSIC |
low complexity region
|
540 |
552 |
N/A |
INTRINSIC |
low complexity region
|
566 |
578 |
N/A |
INTRINSIC |
low complexity region
|
621 |
639 |
N/A |
INTRINSIC |
low complexity region
|
644 |
759 |
N/A |
INTRINSIC |
low complexity region
|
781 |
812 |
N/A |
INTRINSIC |
low complexity region
|
815 |
853 |
N/A |
INTRINSIC |
ZnF_C3H1
|
855 |
881 |
5.76e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151375
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173786
|
Meta Mutation Damage Score |
0.0594 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
98% (42/43) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein phosphatase 1 binding protein. The encoded protein plays a role in many cellular processes including cell cycle progression, DNA repair and apoptosis by regulating the activity of protein phosphatase 1. This gene lies within the major histocompatibility complex class I region on chromosome 6, and alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012] PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam1a |
T |
C |
5: 121,657,385 (GRCm39) |
D636G |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,672,719 (GRCm39) |
V2218A |
possibly damaging |
Het |
Ano5 |
T |
A |
7: 51,240,327 (GRCm39) |
Y752N |
probably damaging |
Het |
Bltp2 |
A |
G |
11: 78,160,335 (GRCm39) |
D598G |
probably damaging |
Het |
Calca |
T |
C |
7: 114,233,796 (GRCm39) |
E45G |
probably damaging |
Het |
Cdk8 |
C |
T |
5: 146,220,478 (GRCm39) |
R166* |
probably null |
Het |
Chsy1 |
T |
A |
7: 65,821,001 (GRCm39) |
M412K |
probably damaging |
Het |
Cic |
T |
A |
7: 24,988,338 (GRCm39) |
Y1675* |
probably null |
Het |
Col1a2 |
T |
A |
6: 4,510,710 (GRCm39) |
D53E |
possibly damaging |
Het |
Dennd6b |
A |
G |
15: 89,071,030 (GRCm39) |
|
probably benign |
Het |
Fut10 |
T |
A |
8: 31,726,048 (GRCm39) |
Y268N |
possibly damaging |
Het |
Glrx3 |
T |
C |
7: 137,060,846 (GRCm39) |
|
probably benign |
Het |
Gucy1b2 |
T |
A |
14: 62,642,076 (GRCm39) |
N697I |
probably damaging |
Het |
Ifi208 |
T |
C |
1: 173,510,438 (GRCm39) |
S198P |
possibly damaging |
Het |
Krt34 |
A |
G |
11: 99,929,857 (GRCm39) |
V213A |
probably damaging |
Het |
Lats2 |
T |
C |
14: 57,928,998 (GRCm39) |
N959S |
probably damaging |
Het |
Mat1a |
A |
G |
14: 40,843,338 (GRCm39) |
Y288C |
probably damaging |
Het |
Mtif2 |
A |
T |
11: 29,490,718 (GRCm39) |
H474L |
probably benign |
Het |
Myh8 |
A |
G |
11: 67,192,744 (GRCm39) |
I1512V |
probably damaging |
Het |
Nkx2-6 |
T |
C |
14: 69,409,476 (GRCm39) |
S76P |
probably benign |
Het |
Noxred1 |
G |
A |
12: 87,280,240 (GRCm39) |
R31W |
probably benign |
Het |
Or14c46 |
T |
A |
7: 85,918,703 (GRCm39) |
Q98L |
probably damaging |
Het |
Or4a69 |
T |
A |
2: 89,313,240 (GRCm39) |
M80L |
probably benign |
Het |
Pcdhb16 |
C |
A |
18: 37,611,340 (GRCm39) |
T100K |
probably benign |
Het |
Pcdhga10 |
T |
C |
18: 37,881,384 (GRCm39) |
C382R |
probably damaging |
Het |
Pdgfra |
A |
T |
5: 75,349,948 (GRCm39) |
Y944F |
possibly damaging |
Het |
Pkhd1 |
A |
G |
1: 20,625,353 (GRCm39) |
I741T |
possibly damaging |
Het |
Rfk |
C |
A |
19: 17,376,834 (GRCm39) |
|
probably null |
Het |
Rgs11 |
C |
T |
17: 26,423,302 (GRCm39) |
|
probably benign |
Het |
Spata31d1b |
T |
C |
13: 59,865,705 (GRCm39) |
V951A |
probably benign |
Het |
St3gal5 |
T |
C |
6: 72,126,013 (GRCm39) |
V286A |
probably benign |
Het |
St7l |
T |
C |
3: 104,798,870 (GRCm39) |
M320T |
probably benign |
Het |
Tnfrsf1b |
G |
T |
4: 144,954,092 (GRCm39) |
Q86K |
probably benign |
Het |
Tox |
T |
C |
4: 6,697,535 (GRCm39) |
I423V |
probably benign |
Het |
Tpbpa |
T |
A |
13: 61,087,827 (GRCm39) |
H88L |
probably benign |
Het |
Vmn1r236 |
A |
G |
17: 21,507,068 (GRCm39) |
Y62C |
probably benign |
Het |
Ythdc1 |
A |
G |
5: 86,970,526 (GRCm39) |
I399M |
probably damaging |
Het |
Zfp948 |
T |
G |
17: 21,807,838 (GRCm39) |
D343E |
probably benign |
Het |
Zswim6 |
A |
G |
13: 107,863,076 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Ppp1r10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00790:Ppp1r10
|
APN |
17 |
36,235,751 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01113:Ppp1r10
|
APN |
17 |
36,240,451 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01144:Ppp1r10
|
APN |
17 |
36,237,456 (GRCm39) |
missense |
probably benign |
0.28 |
IGL01650:Ppp1r10
|
APN |
17 |
36,242,053 (GRCm39) |
missense |
unknown |
|
IGL02445:Ppp1r10
|
APN |
17 |
36,237,094 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02715:Ppp1r10
|
APN |
17 |
36,241,604 (GRCm39) |
missense |
unknown |
|
IGL02797:Ppp1r10
|
APN |
17 |
36,238,904 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03181:Ppp1r10
|
APN |
17 |
36,241,516 (GRCm39) |
nonsense |
probably null |
|
R1183:Ppp1r10
|
UTSW |
17 |
36,240,335 (GRCm39) |
missense |
possibly damaging |
0.56 |
R1710:Ppp1r10
|
UTSW |
17 |
36,237,428 (GRCm39) |
missense |
probably damaging |
0.96 |
R2166:Ppp1r10
|
UTSW |
17 |
36,241,481 (GRCm39) |
missense |
unknown |
|
R2865:Ppp1r10
|
UTSW |
17 |
36,239,384 (GRCm39) |
missense |
possibly damaging |
0.86 |
R2898:Ppp1r10
|
UTSW |
17 |
36,239,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R4612:Ppp1r10
|
UTSW |
17 |
36,238,823 (GRCm39) |
missense |
probably damaging |
1.00 |
R4716:Ppp1r10
|
UTSW |
17 |
36,240,352 (GRCm39) |
missense |
probably benign |
0.16 |
R4796:Ppp1r10
|
UTSW |
17 |
36,234,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R4997:Ppp1r10
|
UTSW |
17 |
36,234,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R5152:Ppp1r10
|
UTSW |
17 |
36,240,144 (GRCm39) |
missense |
probably damaging |
1.00 |
R5186:Ppp1r10
|
UTSW |
17 |
36,239,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R5364:Ppp1r10
|
UTSW |
17 |
36,241,324 (GRCm39) |
missense |
unknown |
|
R5705:Ppp1r10
|
UTSW |
17 |
36,240,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R5847:Ppp1r10
|
UTSW |
17 |
36,237,739 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6912:Ppp1r10
|
UTSW |
17 |
36,240,453 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6974:Ppp1r10
|
UTSW |
17 |
36,240,443 (GRCm39) |
missense |
probably benign |
0.03 |
R7169:Ppp1r10
|
UTSW |
17 |
36,240,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R7302:Ppp1r10
|
UTSW |
17 |
36,241,773 (GRCm39) |
missense |
unknown |
|
R7403:Ppp1r10
|
UTSW |
17 |
36,240,326 (GRCm39) |
missense |
probably benign |
0.05 |
R7427:Ppp1r10
|
UTSW |
17 |
36,241,025 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8006:Ppp1r10
|
UTSW |
17 |
36,239,158 (GRCm39) |
missense |
probably benign |
0.00 |
R8850:Ppp1r10
|
UTSW |
17 |
36,239,690 (GRCm39) |
missense |
probably damaging |
0.97 |
R8944:Ppp1r10
|
UTSW |
17 |
36,241,018 (GRCm39) |
missense |
probably benign |
0.02 |
R9497:Ppp1r10
|
UTSW |
17 |
36,235,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R9741:Ppp1r10
|
UTSW |
17 |
36,237,331 (GRCm39) |
missense |
possibly damaging |
0.55 |
Z1088:Ppp1r10
|
UTSW |
17 |
36,241,659 (GRCm39) |
small deletion |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCGTTCTCATGATGGCCCTG -3'
(R):5'- GGGCCAAGTGTTCAGAGATACAC -3'
Sequencing Primer
(F):5'- CCTGGAGGGAACATGGGTG -3'
(R):5'- TGTTCAGAGATACACAGTATTGGG -3'
|
Posted On |
2015-02-19 |