Incidental Mutation 'R0920:Ppp1r42'
| ID |
82805 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r42
|
| Ensembl Gene |
ENSMUSG00000025916 |
| Gene Name |
protein phosphatase 1, regulatory subunit 42 |
| Synonyms |
1700011J18Rik, 4930418G15Rik, Lrrc67 |
| MMRRC Submission |
039070-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0920 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
10038849-10079361 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 10069750 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 104
(N104I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115030
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027049]
[ENSMUST00000124874]
[ENSMUST00000130102]
[ENSMUST00000176398]
|
| AlphaFold |
Q8R1Z4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027049
AA Change: N104I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027049
Gene: ENSMUSG00000025916
AA Change: N104I
| 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 damaging
Transcript: ENSMUST00000124874
AA Change: N104I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115309
Gene: ENSMUSG00000025916
AA Change: N104I
| 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 damaging
Transcript: ENSMUST00000130102
AA Change: N104I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115030
Gene: ENSMUSG00000025916
AA Change: N104I
| 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 |
|
| Meta Mutation Damage Score |
0.8647 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
100% (37/37) |
| 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 |
|---|
| Aadacl4fm2 |
T |
C |
4: 144,287,696 (GRCm39) |
|
probably benign |
Het |
| Adamts16 |
A |
G |
13: 70,911,680 (GRCm39) |
|
probably benign |
Het |
| Adgra3 |
A |
G |
5: 50,118,503 (GRCm39) |
V1015A |
probably benign |
Het |
| Armc5 |
G |
T |
7: 127,839,491 (GRCm39) |
A270S |
probably damaging |
Het |
| Cacng1 |
A |
C |
11: 107,596,682 (GRCm39) |
|
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 57,940,955 (GRCm39) |
D429G |
probably damaging |
Het |
| Ccdc88b |
G |
T |
19: 6,824,017 (GRCm39) |
A1412E |
probably benign |
Het |
| Cfap298 |
C |
T |
16: 90,724,267 (GRCm39) |
E125K |
probably damaging |
Het |
| Clock |
A |
T |
5: 76,378,167 (GRCm39) |
S578T |
possibly damaging |
Het |
| Crp |
T |
C |
1: 172,526,089 (GRCm39) |
F58S |
probably damaging |
Het |
| Dlg5 |
T |
A |
14: 24,226,465 (GRCm39) |
Q125L |
probably damaging |
Het |
| Eif3i |
T |
C |
4: 129,489,050 (GRCm39) |
|
probably benign |
Het |
| Gucy1a2 |
A |
C |
9: 3,759,472 (GRCm39) |
D426A |
probably damaging |
Het |
| Hpcal1 |
C |
T |
12: 17,841,098 (GRCm39) |
|
probably benign |
Het |
| Inf2 |
T |
A |
12: 112,576,721 (GRCm39) |
|
probably benign |
Het |
| Kdm7a |
A |
G |
6: 39,128,256 (GRCm39) |
L525P |
probably damaging |
Het |
| Kirrel3 |
A |
T |
9: 34,939,648 (GRCm39) |
I152F |
probably damaging |
Het |
| Knl1 |
T |
A |
2: 118,900,309 (GRCm39) |
I670K |
probably benign |
Het |
| Krt76 |
T |
C |
15: 101,800,874 (GRCm39) |
T141A |
possibly damaging |
Het |
| Ldb3 |
T |
C |
14: 34,289,460 (GRCm39) |
T249A |
probably benign |
Het |
| Magi3 |
A |
T |
3: 103,941,507 (GRCm39) |
|
probably null |
Het |
| Mfn1 |
A |
G |
3: 32,588,385 (GRCm39) |
|
probably null |
Het |
| Myb |
G |
T |
10: 21,002,133 (GRCm39) |
T736K |
possibly damaging |
Het |
| Myo5b |
A |
C |
18: 74,758,712 (GRCm39) |
K231T |
probably benign |
Het |
| Myt1l |
T |
A |
12: 29,936,138 (GRCm39) |
C909S |
unknown |
Het |
| Npas4 |
C |
A |
19: 5,036,344 (GRCm39) |
E607* |
probably null |
Het |
| Nphp3 |
A |
G |
9: 103,909,106 (GRCm39) |
N772S |
probably benign |
Het |
| Nup88 |
G |
T |
11: 70,847,146 (GRCm39) |
P288Q |
possibly damaging |
Het |
| Or2l13 |
A |
T |
16: 19,305,680 (GRCm39) |
I31F |
probably benign |
Het |
| Pknox1 |
C |
A |
17: 31,815,865 (GRCm39) |
Q240K |
probably damaging |
Het |
| Plce1 |
A |
C |
19: 38,724,965 (GRCm39) |
T1439P |
probably damaging |
Het |
| Prkar2a |
T |
A |
9: 108,596,496 (GRCm39) |
|
probably benign |
Het |
| Stox2 |
C |
T |
8: 47,646,053 (GRCm39) |
R469Q |
probably damaging |
Het |
| Syna |
A |
G |
5: 134,587,956 (GRCm39) |
V331A |
probably benign |
Het |
| Vmn1r58 |
A |
T |
7: 5,413,788 (GRCm39) |
N147K |
probably benign |
Het |
| Zdhhc6 |
A |
T |
19: 55,300,133 (GRCm39) |
L148H |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAGAGAAGCAGACTCTATGCAC -3'
(R):5'- TCTATGCAGGCGAGCATTTCCAG -3'
Sequencing Primer
(F):5'- AGACTCTATGCACTCCCTGAG -3'
(R):5'- tccacctctccatctcacc -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation