Incidental Mutation 'R8758:Ppp1r16b'
| ID |
671726 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r16b
|
| Ensembl Gene |
ENSMUSG00000037754 |
| Gene Name |
protein phosphatase 1, regulatory subunit 16B |
| Synonyms |
C130078N17Rik, Wdt4, ANKRD4 |
| MMRRC Submission |
068598-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8758 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
158508653-158608254 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 158593098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 226
(D226N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045503]
[ENSMUST00000052927]
[ENSMUST00000103116]
[ENSMUST00000145073]
|
| AlphaFold |
Q8VHQ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045503
AA Change: D226N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039540
Gene: ENSMUSG00000037754
AA Change: D226N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
55 |
N/A |
INTRINSIC |
|
ANK
|
67 |
96 |
5.69e2 |
SMART |
|
ANK
|
100 |
129 |
5.04e-6 |
SMART |
|
ANK
|
133 |
162 |
1.76e-5 |
SMART |
|
ANK
|
228 |
257 |
4.43e-2 |
SMART |
|
ANK
|
261 |
290 |
1.38e-3 |
SMART |
|
low complexity region
|
301 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
504 |
517 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052927
AA Change: D226N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062615
Gene: ENSMUSG00000037754
AA Change: D226N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
55 |
N/A |
INTRINSIC |
|
ANK
|
67 |
96 |
5.69e2 |
SMART |
|
ANK
|
100 |
129 |
5.04e-6 |
SMART |
|
ANK
|
133 |
162 |
1.76e-5 |
SMART |
|
ANK
|
228 |
257 |
4.43e-2 |
SMART |
|
ANK
|
261 |
290 |
1.38e-3 |
SMART |
|
low complexity region
|
301 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
504 |
517 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103116
AA Change: D226N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099405
Gene: ENSMUSG00000037754
AA Change: D226N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
55 |
N/A |
INTRINSIC |
|
ANK
|
67 |
96 |
5.69e2 |
SMART |
|
ANK
|
100 |
129 |
5.04e-6 |
SMART |
|
ANK
|
133 |
162 |
1.76e-5 |
SMART |
|
ANK
|
228 |
257 |
4.43e-2 |
SMART |
|
ANK
|
261 |
290 |
1.38e-3 |
SMART |
|
low complexity region
|
301 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
504 |
517 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000145073
AA Change: D168N
PolyPhen 2
Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000117310
Gene: ENSMUSG00000037754
AA Change: D168N
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
9 |
38 |
5.69e2 |
SMART |
|
ANK
|
42 |
71 |
5.04e-6 |
SMART |
|
ANK
|
75 |
104 |
1.76e-5 |
SMART |
|
Blast:ANK
|
149 |
190 |
5e-18 |
BLAST |
|
low complexity region
|
201 |
214 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
417 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1146 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| 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 is membrane-associated and contains five ankyrin repeats, a protein phosphatase-1-interacting domain, and a carboxy-terminal CAAX box domain. Synthesis of the encoded protein is inhibited by transforming growth factor beta-1. The protein may bind to the membrane through its CAAX box domain and may act as a signaling molecule through interaction with protein phosphatase-1. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and grossly normal with no detectable defects in thymopoiesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
G |
A |
4: 39,450,811 (GRCm39) |
D6N |
probably benign |
Het |
| AC157566.4 |
T |
C |
15: 76,418,382 (GRCm39) |
I42M |
probably benign |
Het |
| Amer2 |
C |
T |
14: 60,616,326 (GRCm39) |
R174C |
probably damaging |
Het |
| Arl8a |
A |
T |
1: 135,082,189 (GRCm39) |
D139V |
possibly damaging |
Het |
| Csmd3 |
A |
G |
15: 47,469,593 (GRCm39) |
Y2525H |
|
Het |
| Cwc22 |
T |
C |
2: 77,747,441 (GRCm39) |
E424G |
possibly damaging |
Het |
| D930048N14Rik |
A |
G |
11: 51,544,568 (GRCm39) |
T80A |
unknown |
Het |
| Ddx25 |
T |
A |
9: 35,453,300 (GRCm39) |
E483D |
probably benign |
Het |
| Dock4 |
A |
T |
12: 40,838,231 (GRCm39) |
E1057D |
probably benign |
Het |
| Dock7 |
C |
T |
4: 98,949,555 (GRCm39) |
R429Q |
|
Het |
| Dzip3 |
T |
C |
16: 48,798,300 (GRCm39) |
Y135C |
probably damaging |
Het |
| Evi5l |
G |
T |
8: 4,255,860 (GRCm39) |
A618S |
probably benign |
Het |
| Fibp |
A |
G |
19: 5,514,970 (GRCm39) |
D348G |
possibly damaging |
Het |
| Gimd1 |
T |
A |
3: 132,340,799 (GRCm39) |
L105H |
probably damaging |
Het |
| Glra1 |
T |
A |
11: 55,418,191 (GRCm39) |
I268F |
possibly damaging |
Het |
| Gm30191 |
A |
G |
4: 133,977,099 (GRCm39) |
T104A |
probably benign |
Het |
| Gm49359 |
A |
T |
13: 62,602,150 (GRCm39) |
I350K |
possibly damaging |
Het |
| Gpm6a |
T |
C |
8: 55,511,833 (GRCm39) |
S236P |
probably damaging |
Het |
| Igkv4-74 |
AG |
A |
6: 69,162,311 (GRCm39) |
|
probably null |
Het |
| Ikzf1 |
A |
G |
11: 11,711,359 (GRCm39) |
S198G |
probably benign |
Het |
| Kcna4 |
T |
A |
2: 107,126,494 (GRCm39) |
D409E |
probably damaging |
Het |
| Lipt2 |
GGCGCCCGCGCGCG |
GGCG |
7: 99,808,888 (GRCm39) |
|
probably null |
Het |
| Mgam |
T |
A |
6: 40,705,977 (GRCm39) |
D15E |
probably benign |
Het |
| Mmrn1 |
A |
G |
6: 60,964,193 (GRCm39) |
D1065G |
possibly damaging |
Het |
| Plxnc1 |
A |
C |
10: 94,758,607 (GRCm39) |
V363G |
possibly damaging |
Het |
| Psg21 |
T |
C |
7: 18,384,678 (GRCm39) |
Y356C |
probably damaging |
Het |
| Ranbp1 |
T |
C |
16: 18,059,659 (GRCm39) |
D130G |
probably damaging |
Het |
| Rb1cc1 |
A |
T |
1: 6,310,451 (GRCm39) |
Q283L |
probably benign |
Het |
| Rph3a |
A |
T |
5: 121,097,365 (GRCm39) |
H250Q |
probably benign |
Het |
| Secisbp2 |
G |
A |
13: 51,833,869 (GRCm39) |
V670I |
possibly damaging |
Het |
| Skil |
C |
T |
3: 31,172,686 (GRCm39) |
A605V |
probably damaging |
Het |
| Slc28a3 |
T |
C |
13: 58,720,424 (GRCm39) |
T312A |
probably benign |
Het |
| Ssh2 |
T |
A |
11: 77,344,843 (GRCm39) |
C943S |
probably benign |
Het |
| Tgfbi |
C |
T |
13: 56,779,894 (GRCm39) |
A481V |
probably damaging |
Het |
| Tgfbr3 |
G |
A |
5: 107,297,750 (GRCm39) |
P217S |
probably damaging |
Het |
| Tmem135 |
A |
T |
7: 88,954,721 (GRCm39) |
W99R |
probably benign |
Het |
| Tmx1 |
A |
G |
12: 70,502,788 (GRCm39) |
Y52C |
possibly damaging |
Het |
| Ube3b |
A |
T |
5: 114,553,261 (GRCm39) |
|
probably benign |
Het |
| Vmn2r57 |
G |
T |
7: 41,078,163 (GRCm39) |
N98K |
probably damaging |
Het |
| Vwa3b |
A |
G |
1: 37,176,873 (GRCm39) |
D40G |
|
Het |
| Zfyve26 |
A |
G |
12: 79,311,083 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ppp1r16b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00813:Ppp1r16b
|
APN |
2 |
158,598,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01024:Ppp1r16b
|
APN |
2 |
158,582,736 (GRCm39) |
splice site |
probably benign |
|
|
IGL01080:Ppp1r16b
|
APN |
2 |
158,599,092 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02106:Ppp1r16b
|
APN |
2 |
158,588,451 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL03084:Ppp1r16b
|
APN |
2 |
158,603,413 (GRCm39) |
nonsense |
probably null |
|
|
R0037:Ppp1r16b
|
UTSW |
2 |
158,599,129 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0037:Ppp1r16b
|
UTSW |
2 |
158,599,129 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0190:Ppp1r16b
|
UTSW |
2 |
158,537,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0294:Ppp1r16b
|
UTSW |
2 |
158,588,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1735:Ppp1r16b
|
UTSW |
2 |
158,603,415 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1746:Ppp1r16b
|
UTSW |
2 |
158,588,585 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1847:Ppp1r16b
|
UTSW |
2 |
158,603,355 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2297:Ppp1r16b
|
UTSW |
2 |
158,603,286 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2509:Ppp1r16b
|
UTSW |
2 |
158,603,383 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2923:Ppp1r16b
|
UTSW |
2 |
158,598,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3907:Ppp1r16b
|
UTSW |
2 |
158,603,410 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4344:Ppp1r16b
|
UTSW |
2 |
158,591,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4373:Ppp1r16b
|
UTSW |
2 |
158,603,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4423:Ppp1r16b
|
UTSW |
2 |
158,599,174 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4424:Ppp1r16b
|
UTSW |
2 |
158,599,174 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4425:Ppp1r16b
|
UTSW |
2 |
158,599,174 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4623:Ppp1r16b
|
UTSW |
2 |
158,603,383 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5436:Ppp1r16b
|
UTSW |
2 |
158,599,253 (GRCm39) |
intron |
probably benign |
|
|
R6029:Ppp1r16b
|
UTSW |
2 |
158,597,137 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6119:Ppp1r16b
|
UTSW |
2 |
158,593,047 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6816:Ppp1r16b
|
UTSW |
2 |
158,603,595 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6941:Ppp1r16b
|
UTSW |
2 |
158,538,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7048:Ppp1r16b
|
UTSW |
2 |
158,599,174 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7101:Ppp1r16b
|
UTSW |
2 |
158,603,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7255:Ppp1r16b
|
UTSW |
2 |
158,603,311 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7490:Ppp1r16b
|
UTSW |
2 |
158,603,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8300:Ppp1r16b
|
UTSW |
2 |
158,588,571 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8359:Ppp1r16b
|
UTSW |
2 |
158,603,295 (GRCm39) |
missense |
probably benign |
|
|
R8677:Ppp1r16b
|
UTSW |
2 |
158,593,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8678:Ppp1r16b
|
UTSW |
2 |
158,598,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8678:Ppp1r16b
|
UTSW |
2 |
158,593,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8679:Ppp1r16b
|
UTSW |
2 |
158,593,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8711:Ppp1r16b
|
UTSW |
2 |
158,603,286 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8755:Ppp1r16b
|
UTSW |
2 |
158,593,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8756:Ppp1r16b
|
UTSW |
2 |
158,593,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9610:Ppp1r16b
|
UTSW |
2 |
158,537,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9611:Ppp1r16b
|
UTSW |
2 |
158,537,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Ppp1r16b
|
UTSW |
2 |
158,593,047 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Ppp1r16b
|
UTSW |
2 |
158,603,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ppp1r16b
|
UTSW |
2 |
158,603,354 (GRCm39) |
missense |
probably benign |
0.18 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACAAAGATCTCGGGCACATTTG -3'
(R):5'- TATATTCCAGGAGCAGCAGGGG -3'
Sequencing Primer
(F):5'- TGACTGGCAGACTCTGACGAG -3'
(R):5'- GGTCTGGAGGAGGCCCAAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation