Incidental Mutation 'R2909:Ppp1r42'
| ID |
261121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r42
|
| Ensembl Gene |
ENSMUSG00000025916 |
| Gene Name |
protein phosphatase 1, regulatory subunit 42 |
| Synonyms |
1700011J18Rik, 4930418G15Rik, Lrrc67 |
| MMRRC Submission |
040496-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2909 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
10038849-10079361 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to A
at 10073637 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135276
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027049]
[ENSMUST00000124874]
[ENSMUST00000130102]
[ENSMUST00000176398]
|
| AlphaFold |
Q8R1Z4 |
| Predicted Effect |
probably benign
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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr5 |
G |
A |
2: 158,467,140 (GRCm39) |
G27R |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,002,102 (GRCm39) |
D1349G |
probably damaging |
Het |
| Chrm3 |
G |
T |
13: 9,928,033 (GRCm39) |
D334E |
probably benign |
Het |
| Clic5 |
A |
C |
17: 44,586,146 (GRCm39) |
T212P |
probably benign |
Het |
| Dapk1 |
G |
A |
13: 60,864,631 (GRCm39) |
|
probably null |
Het |
| Dync2h1 |
A |
T |
9: 7,049,114 (GRCm39) |
L3262H |
probably damaging |
Het |
| Epg5 |
G |
C |
18: 78,026,691 (GRCm39) |
W1227C |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,171,630 (GRCm39) |
S1757P |
probably damaging |
Het |
| Gm3604 |
G |
C |
13: 62,516,832 (GRCm39) |
H509D |
probably benign |
Het |
| Gramd4 |
G |
T |
15: 86,006,384 (GRCm39) |
E163* |
probably null |
Het |
| Hip1r |
T |
A |
5: 124,138,656 (GRCm39) |
|
probably null |
Het |
| Ice1 |
G |
T |
13: 70,744,292 (GRCm39) |
T2097K |
probably damaging |
Het |
| Il12a |
TCAC |
TC |
3: 68,605,320 (GRCm39) |
|
probably null |
Het |
| Kbtbd7 |
A |
G |
14: 79,665,922 (GRCm39) |
T585A |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kcnq3 |
T |
C |
15: 65,897,085 (GRCm39) |
T272A |
possibly damaging |
Het |
| Ly6l |
T |
G |
15: 75,321,481 (GRCm39) |
|
probably null |
Het |
| Minar1 |
T |
C |
9: 89,473,331 (GRCm39) |
N860S |
probably damaging |
Het |
| Mrps11 |
C |
A |
7: 78,438,497 (GRCm39) |
A83E |
probably damaging |
Het |
| Or1af1 |
C |
T |
2: 37,110,188 (GRCm39) |
P229L |
probably damaging |
Het |
| Pax7 |
T |
C |
4: 139,556,007 (GRCm39) |
I156V |
possibly damaging |
Het |
| Plbd1 |
A |
T |
6: 136,611,572 (GRCm39) |
V235D |
probably damaging |
Het |
| Pml |
T |
C |
9: 58,154,526 (GRCm39) |
S76G |
possibly damaging |
Het |
| Rsl24d1 |
T |
C |
9: 73,029,585 (GRCm39) |
L61S |
probably damaging |
Het |
| Rtp2 |
T |
C |
16: 23,746,235 (GRCm39) |
E132G |
probably damaging |
Het |
| Sgk1 |
A |
G |
10: 21,870,715 (GRCm39) |
I23V |
probably benign |
Het |
| Sharpin |
A |
G |
15: 76,234,811 (GRCm39) |
|
probably benign |
Het |
| Sipa1l1 |
T |
A |
12: 82,404,105 (GRCm39) |
Y533N |
probably benign |
Het |
| Slc12a9 |
T |
C |
5: 137,330,463 (GRCm39) |
I81V |
probably benign |
Het |
| Stxbp5l |
G |
A |
16: 37,028,548 (GRCm39) |
T505M |
possibly damaging |
Het |
| Tmem40 |
A |
G |
6: 115,713,342 (GRCm39) |
|
probably null |
Het |
| Tnfrsf18 |
A |
T |
4: 156,112,727 (GRCm39) |
N138Y |
probably damaging |
Het |
| Vmn2r87 |
A |
T |
10: 130,314,865 (GRCm39) |
N240K |
probably damaging |
Het |
| Vmn2r91 |
A |
G |
17: 18,356,661 (GRCm39) |
E776G |
probably damaging |
Het |
| Vmn2r92 |
T |
A |
17: 18,405,377 (GRCm39) |
N840K |
possibly damaging |
Het |
| Vmn2r98 |
T |
C |
17: 19,287,664 (GRCm39) |
I499T |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTATATTACTAACTGTGCAAGACC -3'
(R):5'- AAATTCCAGGAAAGCCCAGG -3'
Sequencing Primer
(F):5'- CTAACTGTGCAAGACCAAAATAATG -3'
(R):5'- ATCCAAGAGTCTATGTAGCCTTGGC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation