Incidental Mutation 'IGL02739:Ppp1r42'
ID |
305790 |
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 # |
IGL02739
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
10038849-10079361 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 10039078 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 347
(K347N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027049
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027049]
[ENSMUST00000124874]
[ENSMUST00000130102]
[ENSMUST00000185184]
|
AlphaFold |
Q8R1Z4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027049
AA Change: K347N
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000027049 Gene: ENSMUSG00000025916 AA Change: K347N
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 |
probably benign
Transcript: ENSMUST00000147000
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185184
|
SMART Domains |
Protein: ENSMUSP00000138827 Gene: ENSMUSG00000099032
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
23 |
N/A |
INTRINSIC |
HLH
|
54 |
106 |
1.49e-13 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192299
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
A |
T |
5: 77,026,364 (GRCm39) |
C887S |
possibly damaging |
Het |
Adamdec1 |
C |
A |
14: 68,807,605 (GRCm39) |
E352* |
probably null |
Het |
Bglap2 |
A |
T |
3: 88,285,319 (GRCm39) |
|
probably null |
Het |
Bsn |
A |
T |
9: 107,989,745 (GRCm39) |
H2002Q |
probably benign |
Het |
Chtop |
T |
A |
3: 90,409,557 (GRCm39) |
Q165L |
possibly damaging |
Het |
Clcn1 |
A |
T |
6: 42,263,714 (GRCm39) |
|
probably null |
Het |
Ctsr |
T |
C |
13: 61,309,658 (GRCm39) |
T184A |
probably benign |
Het |
Defb36 |
T |
C |
2: 152,446,439 (GRCm39) |
L11P |
unknown |
Het |
Dock8 |
A |
G |
19: 25,165,852 (GRCm39) |
E1912G |
probably damaging |
Het |
Dpp3 |
A |
G |
19: 4,973,756 (GRCm39) |
Y106H |
probably damaging |
Het |
Epas1 |
A |
G |
17: 87,112,710 (GRCm39) |
T103A |
probably damaging |
Het |
Epcam |
A |
T |
17: 87,947,922 (GRCm39) |
T131S |
probably benign |
Het |
Fam169a |
A |
G |
13: 97,230,563 (GRCm39) |
|
probably benign |
Het |
Gh |
T |
A |
11: 106,192,559 (GRCm39) |
|
probably benign |
Het |
Kif20a |
A |
T |
18: 34,761,996 (GRCm39) |
K399* |
probably null |
Het |
Lrp1b |
A |
G |
2: 41,388,227 (GRCm39) |
I466T |
probably damaging |
Het |
Nlk |
A |
G |
11: 78,465,677 (GRCm39) |
V409A |
probably benign |
Het |
Nomo1 |
A |
G |
7: 45,693,731 (GRCm39) |
|
probably null |
Het |
Nr2c1 |
T |
A |
10: 93,992,834 (GRCm39) |
M16K |
probably damaging |
Het |
Nxph2 |
A |
T |
2: 23,289,912 (GRCm39) |
Q88L |
probably benign |
Het |
Or51a39 |
A |
G |
7: 102,363,521 (GRCm39) |
I33T |
possibly damaging |
Het |
Pkdrej |
T |
A |
15: 85,703,895 (GRCm39) |
R680S |
probably benign |
Het |
Pkhd1l1 |
A |
T |
15: 44,404,346 (GRCm39) |
N2325I |
probably benign |
Het |
Pnliprp2 |
T |
C |
19: 58,748,941 (GRCm39) |
|
probably null |
Het |
Prtg |
T |
C |
9: 72,758,867 (GRCm39) |
V407A |
possibly damaging |
Het |
Psmb8 |
C |
A |
17: 34,419,728 (GRCm39) |
S194* |
probably null |
Het |
Rnf214 |
T |
C |
9: 45,780,772 (GRCm39) |
I406V |
probably benign |
Het |
Rreb1 |
C |
T |
13: 38,077,797 (GRCm39) |
S3L |
probably damaging |
Het |
Sdad1 |
C |
T |
5: 92,437,931 (GRCm39) |
A539T |
probably benign |
Het |
Sema3a |
A |
G |
5: 13,501,128 (GRCm39) |
Y57C |
probably damaging |
Het |
Susd5 |
A |
G |
9: 113,925,101 (GRCm39) |
E328G |
possibly damaging |
Het |
Syngr3 |
T |
C |
17: 24,905,372 (GRCm39) |
T175A |
probably damaging |
Het |
Tcf20 |
T |
A |
15: 82,740,281 (GRCm39) |
Q390L |
probably damaging |
Het |
Tex15 |
A |
G |
8: 34,071,721 (GRCm39) |
T2423A |
possibly damaging |
Het |
Tlr1 |
T |
C |
5: 65,084,469 (GRCm39) |
N36S |
probably benign |
Het |
Uchl4 |
C |
T |
9: 64,142,819 (GRCm39) |
T100M |
probably damaging |
Het |
Uhrf1 |
A |
G |
17: 56,612,129 (GRCm39) |
K11R |
probably benign |
Het |
Vps13b |
T |
A |
15: 35,880,046 (GRCm39) |
D3040E |
probably damaging |
Het |
Wdr62 |
A |
T |
7: 29,941,885 (GRCm39) |
Y640* |
probably null |
Het |
Zkscan17 |
T |
G |
11: 59,394,352 (GRCm39) |
E83A |
probably damaging |
Het |
|
Other mutations in Ppp1r42 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01469:Ppp1r42
|
APN |
1 |
10,073,458 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
2015-04-16 |