Incidental Mutation 'IGL02797:Ppp1r10'
ID |
360024 |
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 # |
IGL02797
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
36227404-36243175 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to G
at 36238904 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084461
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087210]
[ENSMUST00000087210]
[ENSMUST00000087210]
[ENSMUST00000087210]
[ENSMUST00000087211]
[ENSMUST00000087211]
[ENSMUST00000087211]
[ENSMUST00000087211]
[ENSMUST00000151664]
|
AlphaFold |
Q80W00 |
Predicted Effect |
probably null
Transcript: ENSMUST00000087210
|
SMART Domains |
Protein: ENSMUSP00000084460 Gene: ENSMUSG00000039220
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 |
probably null
Transcript: ENSMUST00000087210
|
SMART Domains |
Protein: ENSMUSP00000084460 Gene: ENSMUSG00000039220
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 |
probably null
Transcript: ENSMUST00000087210
|
SMART Domains |
Protein: ENSMUSP00000084460 Gene: ENSMUSG00000039220
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 |
probably null
Transcript: ENSMUST00000087210
|
SMART Domains |
Protein: ENSMUSP00000084460 Gene: ENSMUSG00000039220
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 |
probably null
Transcript: ENSMUST00000087211
|
SMART Domains |
Protein: ENSMUSP00000084461 Gene: ENSMUSG00000039220
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 |
probably null
Transcript: ENSMUST00000087211
|
SMART Domains |
Protein: ENSMUSP00000084461 Gene: ENSMUSG00000039220
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 |
probably null
Transcript: ENSMUST00000087211
|
SMART Domains |
Protein: ENSMUSP00000084461 Gene: ENSMUSG00000039220
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 |
probably null
Transcript: ENSMUST00000087211
|
SMART Domains |
Protein: ENSMUSP00000084461 Gene: ENSMUSG00000039220
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 |
probably benign
Transcript: ENSMUST00000151664
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
A |
G |
16: 20,187,214 (GRCm39) |
M924T |
probably benign |
Het |
Afg2a |
A |
G |
3: 37,512,465 (GRCm39) |
|
probably benign |
Het |
B3gat2 |
A |
G |
1: 23,854,360 (GRCm39) |
Y218C |
probably damaging |
Het |
Bcs1l |
T |
C |
1: 74,629,620 (GRCm39) |
|
probably null |
Het |
Cd109 |
T |
A |
9: 78,568,995 (GRCm39) |
I358N |
probably damaging |
Het |
Cd276 |
T |
C |
9: 58,444,719 (GRCm39) |
D84G |
possibly damaging |
Het |
Chsy1 |
T |
C |
7: 65,821,412 (GRCm39) |
F549S |
probably damaging |
Het |
Clca3a2 |
T |
C |
3: 144,787,024 (GRCm39) |
N549S |
probably benign |
Het |
Cma1 |
A |
G |
14: 56,181,271 (GRCm39) |
S32P |
possibly damaging |
Het |
Col23a1 |
G |
A |
11: 51,452,743 (GRCm39) |
|
probably null |
Het |
Ctps1 |
A |
T |
4: 120,420,021 (GRCm39) |
I131K |
probably benign |
Het |
Cyp2w1 |
T |
C |
5: 139,342,628 (GRCm39) |
L441P |
probably damaging |
Het |
Dnajc21 |
A |
G |
15: 10,461,441 (GRCm39) |
Y170H |
probably damaging |
Het |
Eif3a |
A |
T |
19: 60,761,164 (GRCm39) |
L648Q |
probably damaging |
Het |
Eif3l |
T |
A |
15: 78,959,477 (GRCm39) |
D6E |
probably benign |
Het |
Fam228a |
A |
T |
12: 4,781,484 (GRCm39) |
L125Q |
probably damaging |
Het |
Foxa2 |
A |
G |
2: 147,886,045 (GRCm39) |
C263R |
possibly damaging |
Het |
Gm17455 |
A |
G |
10: 60,239,107 (GRCm39) |
E124G |
possibly damaging |
Het |
Gpc6 |
T |
G |
14: 117,163,394 (GRCm39) |
L16R |
probably damaging |
Het |
Hdac9 |
A |
G |
12: 34,443,273 (GRCm39) |
|
probably benign |
Het |
Herc3 |
A |
G |
6: 58,845,679 (GRCm39) |
N400S |
probably benign |
Het |
Herc4 |
G |
A |
10: 63,152,586 (GRCm39) |
|
probably null |
Het |
Il12b |
A |
G |
11: 44,301,180 (GRCm39) |
|
probably null |
Het |
Lama4 |
A |
G |
10: 38,932,920 (GRCm39) |
R599G |
probably null |
Het |
Lrp1b |
T |
A |
2: 41,561,069 (GRCm39) |
E286V |
|
Het |
Mink1 |
C |
T |
11: 70,501,176 (GRCm39) |
P784S |
probably damaging |
Het |
Musk |
T |
C |
4: 58,366,921 (GRCm39) |
F513S |
probably benign |
Het |
Nfasc |
T |
A |
1: 132,538,186 (GRCm39) |
D474V |
probably damaging |
Het |
Nhsl3 |
C |
T |
4: 129,117,104 (GRCm39) |
R565H |
probably damaging |
Het |
Nos2 |
T |
G |
11: 78,831,170 (GRCm39) |
F420V |
probably damaging |
Het |
Or52ab2 |
A |
T |
7: 102,970,058 (GRCm39) |
I147L |
probably benign |
Het |
Pcdhb14 |
A |
G |
18: 37,582,904 (GRCm39) |
Y670C |
probably damaging |
Het |
Polr1b |
A |
G |
2: 128,944,899 (GRCm39) |
E65G |
probably damaging |
Het |
Prag1 |
C |
T |
8: 36,606,655 (GRCm39) |
R799C |
probably damaging |
Het |
Prb1c |
T |
A |
6: 132,340,008 (GRCm39) |
|
probably null |
Het |
Ptch1 |
T |
C |
13: 63,681,421 (GRCm39) |
N485S |
probably benign |
Het |
Rgsl1 |
T |
C |
1: 153,683,454 (GRCm39) |
T19A |
probably damaging |
Het |
Sgpl1 |
A |
C |
10: 60,937,507 (GRCm39) |
S507A |
probably benign |
Het |
Sgpp2 |
A |
G |
1: 78,393,819 (GRCm39) |
D274G |
probably benign |
Het |
Skap1 |
A |
G |
11: 96,603,843 (GRCm39) |
D211G |
possibly damaging |
Het |
Smc3 |
A |
G |
19: 53,627,189 (GRCm39) |
T830A |
probably benign |
Het |
Smpd2 |
G |
A |
10: 41,364,074 (GRCm39) |
T215I |
possibly damaging |
Het |
Sntg2 |
T |
G |
12: 30,276,891 (GRCm39) |
Y387S |
possibly damaging |
Het |
Sorl1 |
T |
G |
9: 41,948,355 (GRCm39) |
D810A |
probably damaging |
Het |
Spop |
T |
A |
11: 95,372,909 (GRCm39) |
I217N |
probably damaging |
Het |
Stac2 |
T |
C |
11: 97,934,345 (GRCm39) |
R120G |
possibly damaging |
Het |
Stau1 |
A |
T |
2: 166,791,266 (GRCm39) |
*496R |
probably null |
Het |
Tmeff2 |
C |
T |
1: 50,967,206 (GRCm39) |
R34C |
probably damaging |
Het |
Treml2 |
C |
T |
17: 48,609,739 (GRCm39) |
A57V |
possibly damaging |
Het |
Vmn2r15 |
T |
C |
5: 109,445,250 (GRCm39) |
D58G |
probably benign |
Het |
Vmn2r7 |
T |
C |
3: 64,598,666 (GRCm39) |
I721M |
possibly damaging |
Het |
Vmn2r70 |
C |
A |
7: 85,208,295 (GRCm39) |
M727I |
probably benign |
Het |
Vwa8 |
T |
A |
14: 79,162,702 (GRCm39) |
C161S |
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 |
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 |
|
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 |
2015-12-18 |