Incidental Mutation 'IGL01650:Ppp1r10'
| ID |
102790 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppp1r10
|
| Ensembl Gene |
ENSMUSG00000039220 |
| Gene Name |
protein phosphatase 1, regulatory subunit 10 |
| Synonyms |
PNUTS, 2610025H06Rik, D17Ertd808e |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01650
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
36227404-36243175 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 36242053 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 857
(R857L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084461
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087210]
[ENSMUST00000087211]
|
| AlphaFold |
Q80W00 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000087210
AA Change: R857L
|
| SMART Domains |
Protein: ENSMUSP00000084460
Gene: ENSMUSG00000039220
AA Change: R857L
| 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: R857L
|
| SMART Domains |
Protein: ENSMUSP00000084461
Gene: ENSMUSG00000039220
AA Change: R857L
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl1 |
A |
G |
7: 76,070,067 (GRCm39) |
D281G |
probably damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,180,127 (GRCm39) |
E236G |
probably damaging |
Het |
| Bltp1 |
G |
A |
3: 37,046,822 (GRCm39) |
|
probably benign |
Het |
| Btbd3 |
A |
T |
2: 138,126,025 (GRCm39) |
D334V |
probably damaging |
Het |
| Cabp4 |
T |
C |
19: 4,189,323 (GRCm39) |
E78G |
probably benign |
Het |
| Clcn4 |
T |
C |
7: 7,287,280 (GRCm39) |
|
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,270,089 (GRCm39) |
Y600C |
unknown |
Het |
| Cpne4 |
A |
G |
9: 104,778,710 (GRCm39) |
D167G |
probably damaging |
Het |
| Eif3a |
T |
A |
19: 60,762,434 (GRCm39) |
I450F |
probably damaging |
Het |
| Enpp2 |
T |
A |
15: 54,783,329 (GRCm39) |
Y10F |
probably benign |
Het |
| Fam227a |
A |
T |
15: 79,518,274 (GRCm39) |
H339Q |
possibly damaging |
Het |
| Far2 |
C |
A |
6: 148,074,985 (GRCm39) |
T406K |
possibly damaging |
Het |
| Fmo1 |
A |
G |
1: 162,661,153 (GRCm39) |
S377P |
probably benign |
Het |
| Fsip2 |
G |
A |
2: 82,821,430 (GRCm39) |
S5721N |
probably benign |
Het |
| Gatb |
T |
C |
3: 85,520,791 (GRCm39) |
I300T |
possibly damaging |
Het |
| Gpam |
T |
C |
19: 55,070,132 (GRCm39) |
N375D |
probably benign |
Het |
| Gsdma |
G |
T |
11: 98,564,513 (GRCm39) |
D331Y |
probably damaging |
Het |
| Kif13b |
T |
C |
14: 65,002,594 (GRCm39) |
V1073A |
probably benign |
Het |
| Mfsd4b1 |
T |
A |
10: 39,879,115 (GRCm39) |
M261L |
probably benign |
Het |
| Nav1 |
A |
T |
1: 135,382,498 (GRCm39) |
D1321E |
probably damaging |
Het |
| Or4f59 |
A |
G |
2: 111,872,720 (GRCm39) |
I219T |
possibly damaging |
Het |
| Or52j3 |
A |
G |
7: 102,836,286 (GRCm39) |
I159M |
probably benign |
Het |
| Or6c69 |
A |
G |
10: 129,747,550 (GRCm39) |
V199A |
probably benign |
Het |
| Or6c76b |
T |
A |
10: 129,692,936 (GRCm39) |
L183Q |
probably damaging |
Het |
| Or8g32 |
G |
T |
9: 39,305,252 (GRCm39) |
S55I |
probably damaging |
Het |
| Prune2 |
T |
A |
19: 17,145,656 (GRCm39) |
I2752N |
possibly damaging |
Het |
| Pxdn |
T |
C |
12: 30,052,400 (GRCm39) |
I859T |
probably benign |
Het |
| Ros1 |
T |
C |
10: 52,031,075 (GRCm39) |
D510G |
probably damaging |
Het |
| Sema3g |
C |
A |
14: 30,943,744 (GRCm39) |
P208H |
probably benign |
Het |
| Smcr8 |
T |
C |
11: 60,669,010 (GRCm39) |
F53L |
probably damaging |
Het |
| Tnfsf13b |
A |
T |
8: 10,081,411 (GRCm39) |
I219F |
probably damaging |
Het |
| Vmn1r62 |
T |
C |
7: 5,679,024 (GRCm39) |
V235A |
probably damaging |
Het |
| Vmn2r44 |
C |
A |
7: 8,383,103 (GRCm39) |
|
probably null |
Het |
| Zkscan7 |
A |
G |
9: 122,723,892 (GRCm39) |
D287G |
probably benign |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation