Incidental Mutation 'R2297:Ppp1r16b'
| ID |
245196 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r16b
|
| Ensembl Gene |
ENSMUSG00000037754 |
| Gene Name |
protein phosphatase 1, regulatory subunit 16B |
| Synonyms |
C130078N17Rik, Wdt4, ANKRD4 |
| MMRRC Submission |
040296-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2297 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
158508653-158608254 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 158603286 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 404
(E404K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045503]
[ENSMUST00000052927]
[ENSMUST00000103116]
[ENSMUST00000145073]
|
| AlphaFold |
Q8VHQ3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045503
AA Change: E404K
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000039540
Gene: ENSMUSG00000037754
AA Change: E404K
| 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: ENSMUST00000052927
AA Change: E404K
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000062615
Gene: ENSMUSG00000037754
AA Change: E404K
| 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: ENSMUST00000103116
AA Change: E404K
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099405
Gene: ENSMUSG00000037754
AA Change: E404K
| 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 benign
Transcript: ENSMUST00000145073
AA Change: E304K
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000117310
Gene: ENSMUSG00000037754
AA Change: E304K
| 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: 98.7%
- 10x: 97.4%
- 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921536K21Rik |
G |
A |
11: 3,840,127 (GRCm39) |
A90V |
probably damaging |
Het |
| Aco2 |
A |
T |
15: 81,788,109 (GRCm39) |
D114V |
probably damaging |
Het |
| Cop1 |
C |
T |
1: 159,080,124 (GRCm39) |
H185Y |
possibly damaging |
Het |
| Cyp2a12 |
A |
G |
7: 26,734,057 (GRCm39) |
D330G |
possibly damaging |
Het |
| Dcaf6 |
T |
C |
1: 165,227,431 (GRCm39) |
Y232C |
probably damaging |
Het |
| Ddx42 |
T |
G |
11: 106,133,765 (GRCm39) |
D580E |
probably damaging |
Het |
| Dtl |
A |
G |
1: 191,273,207 (GRCm39) |
V567A |
probably benign |
Het |
| Fem1c |
T |
C |
18: 46,639,228 (GRCm39) |
K258R |
possibly damaging |
Het |
| Galnt12 |
T |
A |
4: 47,113,834 (GRCm39) |
V84D |
probably damaging |
Het |
| Grm1 |
T |
G |
10: 10,956,158 (GRCm39) |
D42A |
probably benign |
Het |
| H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
| Ncapd3 |
C |
T |
9: 26,952,797 (GRCm39) |
R109* |
probably null |
Het |
| Or5c1 |
A |
G |
2: 37,222,155 (GRCm39) |
N132S |
probably benign |
Het |
| Pimreg |
T |
C |
11: 71,933,906 (GRCm39) |
S11P |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Slc6a11 |
A |
G |
6: 114,108,386 (GRCm39) |
N50S |
probably benign |
Het |
| Stab2 |
T |
A |
10: 86,790,338 (GRCm39) |
|
probably null |
Het |
| Tmem132d |
T |
C |
5: 128,345,608 (GRCm39) |
T305A |
possibly damaging |
Het |
| Tnfrsf13b |
A |
G |
11: 61,038,271 (GRCm39) |
T185A |
probably benign |
Het |
| Trdn |
C |
A |
10: 33,211,008 (GRCm39) |
P400Q |
probably damaging |
Het |
| Zfp119b |
T |
A |
17: 56,246,355 (GRCm39) |
Y277F |
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 |
|
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 |
|
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'- TGGTCTGCCCTACCATACAGAG -3'
(R):5'- ATGGGTGACTGAGCAGCTTG -3'
Sequencing Primer
(F):5'- TACCATACAGAGCCTGGTGC -3'
(R):5'- TTGAAGCCACTCCAGGGTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation