Incidental Mutation 'R0294:Ppp1r16b'
| ID |
26269 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r16b
|
| Ensembl Gene |
ENSMUSG00000037754 |
| Gene Name |
protein phosphatase 1, regulatory subunit 16B |
| Synonyms |
C130078N17Rik, Wdt4, ANKRD4 |
| MMRRC Submission |
038511-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0294 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
158508653-158608254 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 158588523 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 78
(T78M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117310
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045503]
[ENSMUST00000052927]
[ENSMUST00000103116]
[ENSMUST00000145073]
|
| AlphaFold |
Q8VHQ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045503
AA Change: T136M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000039540
Gene: ENSMUSG00000037754
AA Change: T136M
| 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: T136M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000062615
Gene: ENSMUSG00000037754
AA Change: T136M
| 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: T136M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000099405
Gene: ENSMUSG00000037754
AA Change: T136M
| 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 |
noncoding transcript
Transcript: ENSMUST00000129902
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145073
AA Change: T78M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117310
Gene: ENSMUSG00000037754
AA Change: T78M
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 95.4%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930527J03Rik |
ACCC |
ACC |
1: 178,276,503 (GRCm38) |
|
noncoding transcript |
Het |
| Aadat |
A |
G |
8: 60,987,642 (GRCm39) |
E319G |
possibly damaging |
Het |
| Abca13 |
A |
G |
11: 9,219,122 (GRCm39) |
|
probably null |
Het |
| Actl7b |
A |
T |
4: 56,740,848 (GRCm39) |
L170Q |
possibly damaging |
Het |
| Adam29 |
C |
A |
8: 56,326,311 (GRCm39) |
V48L |
probably benign |
Het |
| Aknad1 |
A |
G |
3: 108,682,508 (GRCm39) |
Y528C |
probably damaging |
Het |
| Alas1 |
T |
A |
9: 106,118,455 (GRCm39) |
K222N |
probably damaging |
Het |
| Aplf |
A |
G |
6: 87,623,227 (GRCm39) |
V284A |
probably benign |
Het |
| Atp11a |
G |
A |
8: 12,877,524 (GRCm39) |
V317M |
probably benign |
Het |
| Bub3 |
A |
G |
7: 131,169,953 (GRCm39) |
E206G |
possibly damaging |
Het |
| Cblb |
T |
G |
16: 51,956,187 (GRCm39) |
F263L |
probably damaging |
Het |
| Ces2h |
T |
A |
8: 105,743,236 (GRCm39) |
M157K |
probably benign |
Het |
| Cfh |
A |
G |
1: 140,110,999 (GRCm39) |
F6L |
probably benign |
Het |
| Chst1 |
G |
T |
2: 92,443,987 (GRCm39) |
R153L |
probably damaging |
Het |
| Cimap2 |
T |
C |
4: 106,470,361 (GRCm39) |
D232G |
probably damaging |
Het |
| Cntnap5a |
T |
A |
1: 115,843,046 (GRCm39) |
N121K |
probably benign |
Het |
| Crybg1 |
A |
T |
10: 43,862,372 (GRCm39) |
S1467R |
probably damaging |
Het |
| Cyp2d22 |
A |
G |
15: 82,258,646 (GRCm39) |
F72L |
possibly damaging |
Het |
| Dmrt2 |
C |
T |
19: 25,655,435 (GRCm39) |
P345S |
probably damaging |
Het |
| Dock8 |
T |
C |
19: 25,165,714 (GRCm39) |
I1866T |
probably damaging |
Het |
| Egfem1 |
A |
G |
3: 29,744,270 (GRCm39) |
N503S |
probably damaging |
Het |
| Ehbp1 |
T |
C |
11: 22,045,427 (GRCm39) |
D774G |
probably benign |
Het |
| Foxp2 |
C |
A |
6: 15,376,773 (GRCm39) |
|
probably benign |
Het |
| Gins3 |
T |
C |
8: 96,364,547 (GRCm39) |
V99A |
possibly damaging |
Het |
| Grm1 |
A |
T |
10: 10,956,143 (GRCm39) |
I47N |
probably damaging |
Het |
| H2aj |
C |
G |
6: 136,785,602 (GRCm39) |
R89G |
probably damaging |
Het |
| Hsdl2 |
T |
A |
4: 59,601,408 (GRCm39) |
S127T |
probably benign |
Het |
| Il5ra |
A |
T |
6: 106,689,362 (GRCm39) |
M410K |
probably benign |
Het |
| Ints7 |
A |
G |
1: 191,344,003 (GRCm39) |
S548G |
possibly damaging |
Het |
| Kcnt1 |
A |
G |
2: 25,778,122 (GRCm39) |
E80G |
probably damaging |
Het |
| Lgr6 |
A |
G |
1: 134,915,629 (GRCm39) |
V373A |
probably damaging |
Het |
| Lgr6 |
T |
A |
1: 135,032,799 (GRCm39) |
Q27L |
unknown |
Het |
| Map3k14 |
T |
C |
11: 103,117,963 (GRCm39) |
I610V |
possibly damaging |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Metap1d |
T |
A |
2: 71,352,889 (GRCm39) |
H239Q |
probably benign |
Het |
| Mgst2 |
A |
G |
3: 51,589,251 (GRCm39) |
Y88C |
probably damaging |
Het |
| Mroh4 |
T |
C |
15: 74,477,998 (GRCm39) |
N903D |
probably benign |
Het |
| Nbeal2 |
T |
G |
9: 110,461,927 (GRCm39) |
D1476A |
probably damaging |
Het |
| Nlgn1 |
C |
A |
3: 26,187,625 (GRCm39) |
A87S |
probably benign |
Het |
| Nln |
C |
T |
13: 104,189,087 (GRCm39) |
G295S |
probably damaging |
Het |
| Nnt |
T |
A |
13: 119,472,803 (GRCm39) |
Y719F |
probably benign |
Het |
| Nnt |
T |
G |
13: 119,474,953 (GRCm39) |
I659L |
possibly damaging |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Or51b17 |
A |
T |
7: 103,542,137 (GRCm39) |
H268Q |
probably benign |
Het |
| Or52s6 |
G |
A |
7: 103,092,291 (GRCm39) |
T13I |
possibly damaging |
Het |
| Or5p78 |
A |
T |
7: 108,212,357 (GRCm39) |
Y281F |
probably damaging |
Het |
| Or9g4 |
A |
G |
2: 85,505,060 (GRCm39) |
V145A |
probably damaging |
Het |
| Otogl |
C |
T |
10: 107,613,089 (GRCm39) |
C2041Y |
probably damaging |
Het |
| Patj |
G |
T |
4: 98,385,285 (GRCm39) |
D300Y |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,423,831 (GRCm39) |
E3124D |
probably benign |
Het |
| Plbd2 |
A |
G |
5: 120,625,514 (GRCm39) |
|
probably null |
Het |
| Pphln1 |
T |
C |
15: 93,318,171 (GRCm39) |
Y57H |
probably damaging |
Het |
| Prss40 |
T |
G |
1: 34,595,162 (GRCm39) |
D224A |
possibly damaging |
Het |
| Senp6 |
A |
G |
9: 80,021,007 (GRCm39) |
|
probably null |
Het |
| Shank3 |
A |
G |
15: 89,416,301 (GRCm39) |
E666G |
probably damaging |
Het |
| Slc13a1 |
T |
A |
6: 24,090,779 (GRCm39) |
I547F |
possibly damaging |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slc22a18 |
G |
A |
7: 143,046,578 (GRCm39) |
|
probably null |
Het |
| Slc5a4b |
A |
G |
10: 75,917,161 (GRCm39) |
C292R |
probably damaging |
Het |
| Spata31e5 |
T |
C |
1: 28,817,744 (GRCm39) |
Q96R |
probably benign |
Het |
| Sphkap |
T |
A |
1: 83,255,966 (GRCm39) |
E594D |
possibly damaging |
Het |
| Srpra |
T |
A |
9: 35,126,811 (GRCm39) |
M61K |
probably damaging |
Het |
| Trmt10c |
A |
T |
16: 55,855,240 (GRCm39) |
Y132N |
possibly damaging |
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 |
|
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 |
|
R8758: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'- CGGGCAGAACTTACAATACTCAGGC -3'
(R):5'- GTTCTCAACAAGGGAGACAGCATGG -3'
Sequencing Primer
(F):5'- TTACAATACTCAGGCTCCGC -3'
(R):5'- ggagagagagagagagagagag -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation