Incidental Mutation 'IGL02715:Ppp1r10'
| ID |
304706 |
| 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 # |
IGL02715
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
36227404-36243175 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 36241604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 793
(G793V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084461
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087210]
[ENSMUST00000087211]
|
| AlphaFold |
Q80W00 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000087210
AA Change: G793V
|
| SMART Domains |
Protein: ENSMUSP00000084460
Gene: ENSMUSG00000039220
AA Change: G793V
| 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: G793V
|
| SMART Domains |
Protein: ENSMUSP00000084461
Gene: ENSMUSG00000039220
AA Change: G793V
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
T |
C |
11: 72,089,714 (GRCm39) |
I57V |
probably damaging |
Het |
| Abce1 |
T |
A |
8: 80,416,990 (GRCm39) |
E340D |
probably damaging |
Het |
| Agbl2 |
C |
T |
2: 90,636,212 (GRCm39) |
R583W |
probably damaging |
Het |
| Aig1 |
A |
G |
10: 13,744,360 (GRCm39) |
|
probably null |
Het |
| Atpsckmt |
A |
G |
15: 31,606,149 (GRCm39) |
T36A |
probably benign |
Het |
| Brd3 |
C |
A |
2: 27,344,495 (GRCm39) |
A412S |
possibly damaging |
Het |
| C3 |
A |
G |
17: 57,511,158 (GRCm39) |
|
probably benign |
Het |
| Ccdc127 |
A |
G |
13: 74,504,893 (GRCm39) |
E147G |
probably benign |
Het |
| Chrna4 |
A |
G |
2: 180,671,374 (GRCm39) |
|
probably benign |
Het |
| Cnn2 |
T |
C |
10: 79,829,323 (GRCm39) |
L151P |
probably damaging |
Het |
| Col11a1 |
G |
T |
3: 113,923,058 (GRCm39) |
M7I |
probably benign |
Het |
| Cstdc4 |
T |
C |
16: 36,008,315 (GRCm39) |
I67T |
possibly damaging |
Het |
| Fastkd1 |
A |
G |
2: 69,542,469 (GRCm39) |
|
probably null |
Het |
| Fcho2 |
A |
G |
13: 98,932,843 (GRCm39) |
M53T |
probably damaging |
Het |
| Fmnl2 |
T |
C |
2: 52,962,222 (GRCm39) |
Y236H |
possibly damaging |
Het |
| G6bos |
A |
G |
17: 35,284,537 (GRCm39) |
|
probably null |
Het |
| Gramd1a |
C |
T |
7: 30,835,279 (GRCm39) |
G436D |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,007,131 (GRCm39) |
Y1243C |
probably benign |
Het |
| Lrit2 |
A |
G |
14: 36,794,505 (GRCm39) |
D523G |
probably benign |
Het |
| Lrrc2 |
A |
C |
9: 110,799,182 (GRCm39) |
D177A |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,848,905 (GRCm39) |
|
probably null |
Het |
| Mrgpra6 |
A |
T |
7: 46,838,396 (GRCm39) |
|
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,184,365 (GRCm39) |
|
probably benign |
Het |
| Myzap |
C |
A |
9: 71,422,397 (GRCm39) |
E392* |
probably null |
Het |
| Ndst3 |
G |
A |
3: 123,340,410 (GRCm39) |
|
probably benign |
Het |
| Nlrc5 |
C |
A |
8: 95,201,296 (GRCm39) |
P130H |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,971,137 (GRCm39) |
T2526A |
probably benign |
Het |
| Or1e26 |
T |
A |
11: 73,479,947 (GRCm39) |
I206F |
probably benign |
Het |
| Pcnt |
C |
A |
10: 76,204,556 (GRCm39) |
|
probably benign |
Het |
| Pfpl |
T |
A |
19: 12,407,145 (GRCm39) |
C465* |
probably null |
Het |
| Pkd1l3 |
T |
A |
8: 110,353,458 (GRCm39) |
C680S |
probably damaging |
Het |
| Prss27 |
A |
T |
17: 24,263,953 (GRCm39) |
D213V |
possibly damaging |
Het |
| Sh2d5 |
T |
C |
4: 137,984,018 (GRCm39) |
|
probably benign |
Het |
| Spata31d1a |
T |
C |
13: 59,851,549 (GRCm39) |
D193G |
probably benign |
Het |
| Sptan1 |
T |
C |
2: 29,868,588 (GRCm39) |
V66A |
probably benign |
Het |
| Synpr |
T |
C |
14: 13,608,618 (GRCm38) |
S133P |
probably damaging |
Het |
| Tagln3 |
T |
C |
16: 45,544,588 (GRCm39) |
N28D |
probably benign |
Het |
| Tfrc |
A |
G |
16: 32,443,189 (GRCm39) |
T494A |
probably benign |
Het |
| Tmem38a |
T |
C |
8: 73,333,512 (GRCm39) |
I77T |
possibly damaging |
Het |
| Tmem42 |
C |
A |
9: 122,851,295 (GRCm39) |
T86N |
probably damaging |
Het |
| Ttc8 |
T |
A |
12: 98,910,179 (GRCm39) |
|
probably benign |
Het |
| Tub |
G |
A |
7: 108,628,517 (GRCm39) |
V342I |
probably benign |
Het |
| Vmn2r103 |
A |
T |
17: 20,014,218 (GRCm39) |
I337F |
probably damaging |
Het |
| Xkr7 |
A |
G |
2: 152,896,277 (GRCm39) |
E377G |
probably damaging |
Het |
| Zfp292 |
C |
T |
4: 34,819,542 (GRCm39) |
G260D |
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 |
|
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 |
2015-04-16 |
Incidental Mutation