Incidental Mutation 'IGL01469:Ppp1r42'
ID |
88227 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ppp1r42
|
Ensembl Gene |
ENSMUSG00000025916 |
Gene Name |
protein phosphatase 1, regulatory subunit 42 |
Synonyms |
1700011J18Rik, 4930418G15Rik, Lrrc67 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01469
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
10038849-10079361 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 10073458 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027049
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027049]
[ENSMUST00000124874]
[ENSMUST00000130102]
[ENSMUST00000176398]
|
AlphaFold |
Q8R1Z4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000027049
|
SMART Domains |
Protein: ENSMUSP00000027049 Gene: ENSMUSG00000025916
Domain | Start | End | E-Value | Type |
Pfam:LRR_8
|
50 |
106 |
2.5e-8 |
PFAM |
Pfam:LRR_4
|
72 |
114 |
2.3e-11 |
PFAM |
low complexity region
|
146 |
164 |
N/A |
INTRINSIC |
low complexity region
|
184 |
201 |
N/A |
INTRINSIC |
low complexity region
|
243 |
259 |
N/A |
INTRINSIC |
low complexity region
|
323 |
332 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124874
|
SMART Domains |
Protein: ENSMUSP00000115309 Gene: ENSMUSG00000025916
Domain | Start | End | E-Value | Type |
Pfam:LRR_8
|
50 |
106 |
2e-8 |
PFAM |
Pfam:LRR_6
|
71 |
94 |
5.9e-3 |
PFAM |
Pfam:LRR_4
|
72 |
117 |
3.8e-11 |
PFAM |
Pfam:LRR_8
|
72 |
128 |
1.3e-8 |
PFAM |
Pfam:LRR_1
|
73 |
93 |
3.4e-3 |
PFAM |
Pfam:LRR_6
|
145 |
172 |
2.2e-3 |
PFAM |
low complexity region
|
184 |
201 |
N/A |
INTRINSIC |
low complexity region
|
243 |
259 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130102
|
SMART Domains |
Protein: ENSMUSP00000115030 Gene: ENSMUSG00000025916
Domain | Start | End | E-Value | Type |
Pfam:LRR_6
|
49 |
68 |
4.4e-2 |
PFAM |
Pfam:LRR_8
|
50 |
106 |
2.3e-8 |
PFAM |
Pfam:LRR_6
|
71 |
95 |
6.8e-3 |
PFAM |
Pfam:LRR_4
|
72 |
116 |
6.9e-11 |
PFAM |
Pfam:LRR_8
|
72 |
128 |
1.5e-8 |
PFAM |
Pfam:LRR_1
|
73 |
93 |
5.1e-3 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155163
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176398
|
SMART Domains |
Protein: ENSMUSP00000135276 Gene: ENSMUSG00000025916
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
21 |
N/A |
INTRINSIC |
low complexity region
|
63 |
79 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene can interact with gamma-tubulin and PP1 phosphatase, a regulator of centrosome separation. The encoded protein is a positive regulator of PP1 phosphatase and thus plays a role in the control of centrosome integrity. [provided by RefSeq, Feb 2017]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm1 |
A |
G |
4: 144,255,192 (GRCm39) |
Q204R |
possibly damaging |
Het |
Actn2 |
C |
T |
13: 12,325,796 (GRCm39) |
E60K |
possibly damaging |
Het |
Alpk1 |
T |
C |
3: 127,471,401 (GRCm39) |
|
probably null |
Het |
Ccdc107 |
A |
G |
4: 43,495,751 (GRCm39) |
N218S |
probably benign |
Het |
Cdh23 |
A |
T |
10: 60,433,504 (GRCm39) |
M60K |
probably benign |
Het |
Cenpe |
A |
G |
3: 134,934,567 (GRCm39) |
Q378R |
probably damaging |
Het |
Dnaaf6rt |
A |
T |
1: 31,262,510 (GRCm39) |
D164V |
probably damaging |
Het |
Dnah8 |
T |
A |
17: 30,902,688 (GRCm39) |
|
probably benign |
Het |
Eif2b4 |
T |
C |
5: 31,345,111 (GRCm39) |
D190G |
probably benign |
Het |
Fmo5 |
A |
G |
3: 97,558,884 (GRCm39) |
N448S |
probably benign |
Het |
Gal3st2c |
A |
G |
1: 93,937,039 (GRCm39) |
N328S |
probably benign |
Het |
Gbf1 |
A |
T |
19: 46,267,803 (GRCm39) |
E1271V |
probably damaging |
Het |
Ifitm6 |
A |
T |
7: 140,596,725 (GRCm39) |
V16D |
probably damaging |
Het |
Ighv2-4 |
A |
G |
12: 113,616,966 (GRCm39) |
|
probably null |
Het |
Kng2 |
T |
A |
16: 22,818,577 (GRCm39) |
K305I |
probably damaging |
Het |
Lrp1 |
C |
T |
10: 127,420,283 (GRCm39) |
R900Q |
probably damaging |
Het |
Maml1 |
A |
G |
11: 50,157,353 (GRCm39) |
M274T |
probably damaging |
Het |
Med23 |
A |
G |
10: 24,758,495 (GRCm39) |
E278G |
probably damaging |
Het |
Myo1h |
A |
G |
5: 114,499,330 (GRCm39) |
T164A |
probably damaging |
Het |
Ncoa2 |
A |
T |
1: 13,257,093 (GRCm39) |
S135R |
probably benign |
Het |
Nrbf2 |
A |
G |
10: 67,105,919 (GRCm39) |
L41P |
probably damaging |
Het |
Or10a48 |
A |
G |
7: 108,424,534 (GRCm39) |
V224A |
probably benign |
Het |
Or1j13 |
T |
C |
2: 36,369,836 (GRCm39) |
Y102C |
probably benign |
Het |
Or1o11 |
T |
A |
17: 37,756,426 (GRCm39) |
S5T |
probably benign |
Het |
Or52e5 |
T |
A |
7: 104,719,595 (GRCm39) |
M307K |
probably benign |
Het |
Or6c6 |
A |
G |
10: 129,186,449 (GRCm39) |
M6V |
probably benign |
Het |
Otoa |
T |
C |
7: 120,754,496 (GRCm39) |
|
probably null |
Het |
Plxnb1 |
T |
C |
9: 108,934,483 (GRCm39) |
|
probably benign |
Het |
Rad54l2 |
T |
A |
9: 106,599,957 (GRCm39) |
K100M |
probably damaging |
Het |
Rnf112 |
T |
A |
11: 61,342,167 (GRCm39) |
T308S |
possibly damaging |
Het |
Scaper |
T |
C |
9: 55,767,051 (GRCm39) |
D466G |
probably damaging |
Het |
Sgsm2 |
T |
A |
11: 74,744,697 (GRCm39) |
I796L |
possibly damaging |
Het |
Shank3 |
T |
C |
15: 89,405,477 (GRCm39) |
L476P |
probably damaging |
Het |
Shkbp1 |
T |
C |
7: 27,055,366 (GRCm39) |
T6A |
probably benign |
Het |
Slc14a2 |
A |
T |
18: 78,198,781 (GRCm39) |
I783N |
probably damaging |
Het |
Stat1 |
A |
G |
1: 52,186,529 (GRCm39) |
D447G |
possibly damaging |
Het |
Tekt3 |
T |
G |
11: 62,964,294 (GRCm39) |
I208S |
probably damaging |
Het |
Tenm3 |
A |
T |
8: 48,689,458 (GRCm39) |
V2043E |
probably damaging |
Het |
Tgm3 |
T |
C |
2: 129,866,414 (GRCm39) |
Y111H |
probably damaging |
Het |
Tph2 |
T |
A |
10: 114,915,664 (GRCm39) |
R459* |
probably null |
Het |
Vmn2r109 |
T |
C |
17: 20,761,671 (GRCm39) |
Y562C |
probably damaging |
Het |
|
Other mutations in Ppp1r42 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02739:Ppp1r42
|
APN |
1 |
10,039,078 (GRCm39) |
missense |
probably benign |
0.34 |
G1patch:Ppp1r42
|
UTSW |
1 |
10,069,732 (GRCm39) |
missense |
probably damaging |
1.00 |
R0920:Ppp1r42
|
UTSW |
1 |
10,069,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R1829:Ppp1r42
|
UTSW |
1 |
10,070,311 (GRCm39) |
missense |
probably benign |
0.00 |
R2151:Ppp1r42
|
UTSW |
1 |
10,073,572 (GRCm39) |
missense |
probably benign |
0.10 |
R2909:Ppp1r42
|
UTSW |
1 |
10,073,637 (GRCm39) |
intron |
probably benign |
|
R4828:Ppp1r42
|
UTSW |
1 |
10,069,636 (GRCm39) |
missense |
probably benign |
|
R4863:Ppp1r42
|
UTSW |
1 |
10,073,611 (GRCm39) |
intron |
probably benign |
|
R5384:Ppp1r42
|
UTSW |
1 |
10,069,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R5394:Ppp1r42
|
UTSW |
1 |
10,069,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R6725:Ppp1r42
|
UTSW |
1 |
10,069,732 (GRCm39) |
missense |
probably damaging |
1.00 |
R7343:Ppp1r42
|
UTSW |
1 |
10,039,082 (GRCm39) |
missense |
probably benign |
|
R7556:Ppp1r42
|
UTSW |
1 |
10,065,408 (GRCm39) |
missense |
probably benign |
0.01 |
R8722:Ppp1r42
|
UTSW |
1 |
10,055,894 (GRCm39) |
missense |
probably benign |
0.15 |
R9477:Ppp1r42
|
UTSW |
1 |
10,055,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R9612:Ppp1r42
|
UTSW |
1 |
10,039,067 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9668:Ppp1r42
|
UTSW |
1 |
10,073,563 (GRCm39) |
missense |
probably benign |
0.42 |
R9752:Ppp1r42
|
UTSW |
1 |
10,073,674 (GRCm39) |
intron |
probably benign |
|
Z1177:Ppp1r42
|
UTSW |
1 |
10,069,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-11-18 |