Incidental Mutation 'R6941:Ppp1r16b'
| ID |
540527 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r16b
|
| Ensembl Gene |
ENSMUSG00000037754 |
| Gene Name |
protein phosphatase 1, regulatory subunit 16B |
| Synonyms |
C130078N17Rik, Wdt4, ANKRD4 |
| MMRRC Submission |
045055-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6941 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
158508653-158608254 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 158538068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 5
(K5M)
|
| 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: K63M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039540
Gene: ENSMUSG00000037754
AA Change: K63M
| 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: K63M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000062615
Gene: ENSMUSG00000037754
AA Change: K63M
| 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: K63M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099405
Gene: ENSMUSG00000037754
AA Change: K63M
| 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: ENSMUST00000145073
AA Change: K5M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117310
Gene: ENSMUSG00000037754
AA Change: K5M
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.0%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
T |
7: 120,140,370 (GRCm39) |
I1557F |
probably damaging |
Het |
| Acad10 |
A |
T |
5: 121,787,420 (GRCm39) |
D176E |
probably damaging |
Het |
| Acta2 |
A |
T |
19: 34,229,922 (GRCm39) |
V11E |
probably damaging |
Het |
| Ampd2 |
T |
C |
3: 107,986,609 (GRCm39) |
H225R |
probably damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,501,203 (GRCm39) |
Y1016H |
possibly damaging |
Het |
| Atg7 |
C |
T |
6: 114,650,639 (GRCm39) |
T83M |
possibly damaging |
Het |
| AU018091 |
A |
G |
7: 3,209,267 (GRCm39) |
|
probably null |
Het |
| Birc2 |
A |
G |
9: 7,819,469 (GRCm39) |
V481A |
probably benign |
Het |
| Cabp1 |
A |
T |
5: 115,310,960 (GRCm39) |
D295E |
probably damaging |
Het |
| Cd180 |
A |
T |
13: 102,842,699 (GRCm39) |
T582S |
probably benign |
Het |
| Cnksr3 |
A |
G |
10: 7,076,758 (GRCm39) |
S145P |
probably damaging |
Het |
| Ddx27 |
A |
G |
2: 166,857,297 (GRCm39) |
D15G |
possibly damaging |
Het |
| Dsc1 |
T |
C |
18: 20,230,246 (GRCm39) |
Y353C |
probably benign |
Het |
| Dsg1c |
C |
T |
18: 20,400,980 (GRCm39) |
T161I |
probably damaging |
Het |
| Epm2a |
A |
G |
10: 11,266,829 (GRCm39) |
|
probably null |
Het |
| Fat2 |
T |
C |
11: 55,152,914 (GRCm39) |
H3766R |
probably benign |
Het |
| Fjx1 |
A |
G |
2: 102,280,903 (GRCm39) |
V344A |
probably benign |
Het |
| Frmd3 |
A |
G |
4: 74,016,363 (GRCm39) |
I93V |
probably benign |
Het |
| Gbe1 |
TAGTAAGAGT |
TAGT |
16: 70,230,444 (GRCm39) |
|
probably benign |
Het |
| Gdf15 |
A |
G |
8: 71,082,794 (GRCm39) |
L104P |
possibly damaging |
Het |
| Glra3 |
G |
A |
8: 56,393,961 (GRCm39) |
R24Q |
probably benign |
Het |
| Gvin2 |
G |
A |
7: 105,551,187 (GRCm39) |
Q622* |
probably null |
Het |
| Ighv1-9 |
A |
T |
12: 114,547,448 (GRCm39) |
M31K |
probably benign |
Het |
| Ipmk |
G |
A |
10: 71,183,920 (GRCm39) |
G47S |
probably null |
Het |
| Itsn2 |
T |
C |
12: 4,679,641 (GRCm39) |
I150T |
probably benign |
Het |
| Kcnq5 |
T |
C |
1: 21,476,068 (GRCm39) |
Y545C |
probably damaging |
Het |
| Klk1b8 |
C |
A |
7: 43,602,213 (GRCm39) |
H48Q |
possibly damaging |
Het |
| Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
| Lrrc34 |
T |
C |
3: 30,678,969 (GRCm39) |
Y376C |
probably benign |
Het |
| Mast4 |
A |
T |
13: 102,941,222 (GRCm39) |
D278E |
probably damaging |
Het |
| Mtmr3 |
T |
C |
11: 4,437,505 (GRCm39) |
Y982C |
possibly damaging |
Het |
| Ndst4 |
T |
G |
3: 125,403,160 (GRCm39) |
H422Q |
possibly damaging |
Het |
| Nek7 |
T |
C |
1: 138,430,376 (GRCm39) |
E206G |
probably damaging |
Het |
| Nufip2 |
CCAGCAGCAGCAGCAGCAGCAG |
CCAGCAGCAGCAGCAGCAG |
11: 77,577,122 (GRCm39) |
|
probably benign |
Het |
| Or5b99 |
T |
A |
19: 12,976,861 (GRCm39) |
N170K |
possibly damaging |
Het |
| Pglyrp2 |
T |
C |
17: 32,635,048 (GRCm39) |
Y438C |
probably damaging |
Het |
| Pigr |
G |
T |
1: 130,775,064 (GRCm39) |
W497L |
probably damaging |
Het |
| Pkd2l2 |
G |
T |
18: 34,549,936 (GRCm39) |
V194L |
probably benign |
Het |
| Psat1 |
A |
T |
19: 15,898,307 (GRCm39) |
S35R |
probably damaging |
Het |
| Qrfprl |
G |
A |
6: 65,424,385 (GRCm39) |
M126I |
probably damaging |
Het |
| Rab11fip1 |
G |
A |
8: 27,646,303 (GRCm39) |
Q258* |
probably null |
Het |
| Rad51d |
A |
G |
11: 82,780,623 (GRCm39) |
L53P |
probably damaging |
Het |
| Rell2 |
G |
A |
18: 38,091,341 (GRCm39) |
A169T |
probably benign |
Het |
| Rnf19b |
T |
C |
4: 128,976,572 (GRCm39) |
I545T |
probably benign |
Het |
| Slc12a1 |
G |
T |
2: 125,055,999 (GRCm39) |
E843D |
possibly damaging |
Het |
| Slc1a4 |
A |
G |
11: 20,254,346 (GRCm39) |
S507P |
probably damaging |
Het |
| Slc6a1 |
G |
A |
6: 114,290,473 (GRCm39) |
W316* |
probably null |
Het |
| Spesp1 |
A |
G |
9: 62,180,152 (GRCm39) |
L252P |
probably damaging |
Het |
| Sphkap |
G |
A |
1: 83,385,811 (GRCm39) |
|
probably benign |
Het |
| Srcap |
A |
G |
7: 127,141,769 (GRCm39) |
T1850A |
probably damaging |
Het |
| Supv3l1 |
T |
C |
10: 62,266,365 (GRCm39) |
T604A |
possibly damaging |
Het |
| Tacr1 |
A |
G |
6: 82,380,846 (GRCm39) |
T86A |
possibly damaging |
Het |
| Tenm3 |
T |
C |
8: 49,127,451 (GRCm39) |
R76G |
probably damaging |
Het |
| Tmprss6 |
C |
A |
15: 78,330,977 (GRCm39) |
A419S |
probably damaging |
Het |
| Usp54 |
T |
G |
14: 20,612,177 (GRCm39) |
I880L |
probably benign |
Het |
| Wwp2 |
T |
A |
8: 108,275,134 (GRCm39) |
V377D |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,581,159 (GRCm39) |
E65D |
probably benign |
Het |
| Zfy2 |
T |
C |
Y: 2,121,491 (GRCm39) |
E134G |
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 |
|
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'- GACCAGTCCATCTCTGTGTC -3'
(R):5'- CCTTCCTAATGTGGGCTGATG -3'
Sequencing Primer
(F):5'- CACCATGAGGCTCCAGC -3'
(R):5'- CTGATGGTATGGTGCGCAC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation