Incidental Mutation 'R2166:Ppp1r10'
| ID |
235514 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r10
|
| Ensembl Gene |
ENSMUSG00000039220 |
| Gene Name |
protein phosphatase 1, regulatory subunit 10 |
| Synonyms |
PNUTS, 2610025H06Rik, D17Ertd808e |
| MMRRC Submission |
040169-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2166 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
36227404-36243175 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 36241481 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 752
(R752L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084461
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087210]
[ENSMUST00000087211]
|
| AlphaFold |
Q80W00 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000087210
AA Change: R752L
|
| SMART Domains |
Protein: ENSMUSP00000084460
Gene: ENSMUSG00000039220
AA Change: R752L
| 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: R752L
|
| SMART Domains |
Protein: ENSMUSP00000084461
Gene: ENSMUSG00000039220
AA Change: R752L
| 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
|
| Meta Mutation Damage Score |
0.0609 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (42/42) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,716,762 (GRCm39) |
F779I |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Birc6 |
A |
T |
17: 74,942,790 (GRCm39) |
T2761S |
probably benign |
Het |
| Cav1 |
A |
T |
6: 17,339,430 (GRCm39) |
I141F |
possibly damaging |
Het |
| Cmklr2 |
A |
G |
1: 63,223,107 (GRCm39) |
F43L |
probably benign |
Het |
| Gm973 |
A |
G |
1: 59,565,898 (GRCm39) |
D39G |
possibly damaging |
Het |
| Gucy1a2 |
T |
A |
9: 3,579,513 (GRCm39) |
|
probably null |
Het |
| Il1b |
A |
T |
2: 129,206,968 (GRCm39) |
M264K |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,365,186 (GRCm39) |
Y38C |
probably damaging |
Het |
| Kcnb2 |
A |
C |
1: 15,781,540 (GRCm39) |
D804A |
possibly damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,781,195 (GRCm39) |
|
probably benign |
Het |
| Krt6b |
T |
C |
15: 101,587,050 (GRCm39) |
|
probably null |
Het |
| Mef2a |
A |
G |
7: 66,915,870 (GRCm39) |
V144A |
probably damaging |
Het |
| Mroh3 |
A |
G |
1: 136,113,791 (GRCm39) |
M666T |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,607,363 (GRCm39) |
Y702F |
probably benign |
Het |
| Napepld |
T |
A |
5: 21,888,230 (GRCm39) |
K73I |
possibly damaging |
Het |
| Or5h23 |
T |
A |
16: 58,905,949 (GRCm39) |
K299I |
probably benign |
Het |
| Or8g21 |
G |
A |
9: 38,906,513 (GRCm39) |
Q73* |
probably null |
Het |
| Pappa |
A |
C |
4: 65,074,682 (GRCm39) |
D412A |
probably damaging |
Het |
| Plbd1 |
A |
G |
6: 136,590,788 (GRCm39) |
|
probably null |
Het |
| Prep |
T |
C |
10: 44,968,751 (GRCm39) |
|
probably benign |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,045,632 (GRCm39) |
N2134S |
possibly damaging |
Het |
| Rhbdl3 |
A |
G |
11: 80,210,523 (GRCm39) |
Y92C |
probably damaging |
Het |
| Rtkn2 |
T |
C |
10: 67,877,526 (GRCm39) |
S532P |
possibly damaging |
Het |
| Rtl1 |
T |
A |
12: 109,556,988 (GRCm39) |
H1617L |
probably damaging |
Het |
| Skint6 |
T |
A |
4: 112,711,649 (GRCm39) |
N956I |
probably benign |
Het |
| Slc13a2 |
A |
G |
11: 78,293,901 (GRCm39) |
V287A |
probably benign |
Het |
| Slc9a2 |
A |
G |
1: 40,781,928 (GRCm39) |
K386E |
probably damaging |
Het |
| Spata20 |
G |
A |
11: 94,369,930 (GRCm39) |
H789Y |
probably benign |
Het |
| Stk19 |
A |
G |
17: 35,051,486 (GRCm39) |
I23T |
possibly damaging |
Het |
| Tonsl |
A |
G |
15: 76,521,513 (GRCm39) |
I293T |
probably benign |
Het |
| Topbp1 |
A |
G |
9: 103,190,128 (GRCm39) |
|
probably null |
Het |
| Trappc2l |
T |
A |
8: 123,339,901 (GRCm39) |
S44T |
probably benign |
Het |
| Tsr1 |
A |
G |
11: 74,798,280 (GRCm39) |
|
probably null |
Het |
| Ugdh |
A |
G |
5: 65,574,357 (GRCm39) |
|
probably benign |
Het |
| Unc119 |
A |
G |
11: 78,238,161 (GRCm39) |
|
probably null |
Het |
| Zkscan14 |
G |
A |
5: 145,132,944 (GRCm39) |
P196S |
probably benign |
Het |
| Zmat4 |
T |
C |
8: 24,392,152 (GRCm39) |
L36P |
probably damaging |
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 |
|
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 |
|
R3692:Ppp1r10
|
UTSW |
17 |
36,241,760 (GRCm39) |
missense |
unknown |
|
|
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'- AGGTGATCCAATGCGAGGTG -3'
(R):5'- TGGCTAGGGACATCATGTGG -3'
Sequencing Primer
(F):5'- CAATGCGAGGTGGCCCAATG -3'
(R):5'- ACATCATGTGGTCGGTGTCC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation