Incidental Mutation 'IGL01024:Ppp1r16b'
| ID |
53473 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppp1r16b
|
| Ensembl Gene |
ENSMUSG00000037754 |
| Gene Name |
protein phosphatase 1, regulatory subunit 16B |
| Synonyms |
C130078N17Rik, Wdt4, ANKRD4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01024
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
158508653-158608254 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 158582736 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117310
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045503]
[ENSMUST00000052927]
[ENSMUST00000103116]
[ENSMUST00000145073]
|
| AlphaFold |
Q8VHQ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045503
|
| SMART Domains |
Protein: ENSMUSP00000039540
Gene: ENSMUSG00000037754
| 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 benign
Transcript: ENSMUST00000052927
|
| SMART Domains |
Protein: ENSMUSP00000062615
Gene: ENSMUSG00000037754
| 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 benign
Transcript: ENSMUST00000103116
|
| SMART Domains |
Protein: ENSMUSP00000099405
Gene: ENSMUSG00000037754
| 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
|
| SMART Domains |
Protein: ENSMUSP00000117310
Gene: ENSMUSG00000037754
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175299
|
| Coding Region Coverage |
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
T |
C |
19: 3,767,040 (GRCm39) |
V209A |
probably benign |
Het |
| Abca6 |
T |
A |
11: 110,087,968 (GRCm39) |
Y1053F |
probably benign |
Het |
| Acot12 |
C |
T |
13: 91,929,330 (GRCm39) |
Q386* |
probably null |
Het |
| Adamts16 |
A |
G |
13: 70,943,603 (GRCm39) |
V336A |
probably benign |
Het |
| Ankrd49 |
A |
G |
9: 14,694,099 (GRCm39) |
F23L |
probably damaging |
Het |
| Aspm |
A |
T |
1: 139,405,862 (GRCm39) |
H1583L |
possibly damaging |
Het |
| Atp6v0a1 |
A |
G |
11: 100,939,265 (GRCm39) |
I677V |
probably benign |
Het |
| Brinp1 |
A |
T |
4: 68,680,731 (GRCm39) |
W600R |
probably damaging |
Het |
| Ccdc185 |
T |
C |
1: 182,574,988 (GRCm39) |
E567G |
possibly damaging |
Het |
| Clip2 |
T |
C |
5: 134,539,066 (GRCm39) |
D445G |
probably damaging |
Het |
| Elp5 |
T |
C |
11: 69,859,248 (GRCm39) |
|
probably benign |
Het |
| Gm9376 |
A |
G |
14: 118,504,570 (GRCm39) |
M1V |
probably null |
Het |
| Gtf2a1l |
A |
G |
17: 88,978,719 (GRCm39) |
K40R |
probably damaging |
Het |
| Hdc |
A |
G |
2: 126,445,766 (GRCm39) |
V246A |
probably benign |
Het |
| Hectd2 |
T |
A |
19: 36,583,793 (GRCm39) |
F479L |
probably damaging |
Het |
| Hipk1 |
G |
T |
3: 103,667,952 (GRCm39) |
N538K |
probably benign |
Het |
| Kif27 |
T |
A |
13: 58,436,015 (GRCm39) |
E1259D |
possibly damaging |
Het |
| Klhdc2 |
T |
A |
12: 69,352,610 (GRCm39) |
N256K |
probably benign |
Het |
| Krt71 |
C |
T |
15: 101,645,109 (GRCm39) |
A401T |
probably damaging |
Het |
| Mapk3 |
A |
T |
7: 126,363,946 (GRCm39) |
K312* |
probably null |
Het |
| Med12l |
G |
T |
3: 58,980,762 (GRCm39) |
S365I |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,619,944 (GRCm39) |
K11R |
probably benign |
Het |
| Nox3 |
A |
T |
17: 3,733,290 (GRCm39) |
I187N |
probably damaging |
Het |
| Nudcd1 |
T |
A |
15: 44,284,222 (GRCm39) |
M55L |
probably benign |
Het |
| Or1a1b |
A |
T |
11: 74,097,481 (GRCm39) |
L187Q |
probably damaging |
Het |
| Or4f59 |
A |
T |
2: 111,872,716 (GRCm39) |
F220L |
probably benign |
Het |
| Or8b57 |
A |
G |
9: 40,004,029 (GRCm39) |
S78P |
probably damaging |
Het |
| Pard6g |
T |
C |
18: 80,123,037 (GRCm39) |
|
probably benign |
Het |
| Pbrm1 |
G |
A |
14: 30,774,217 (GRCm39) |
R461H |
probably damaging |
Het |
| Ppm1f |
C |
A |
16: 16,741,633 (GRCm39) |
T369K |
probably benign |
Het |
| Pramel29 |
A |
T |
4: 143,935,045 (GRCm39) |
I232K |
possibly damaging |
Het |
| Prom2 |
T |
C |
2: 127,383,059 (GRCm39) |
N61S |
probably benign |
Het |
| Psmc2 |
T |
C |
5: 22,006,196 (GRCm39) |
|
probably benign |
Het |
| Psme2 |
A |
G |
14: 55,825,893 (GRCm39) |
|
probably benign |
Het |
| Ptprc |
T |
C |
1: 138,008,650 (GRCm39) |
H655R |
probably damaging |
Het |
| Pxdn |
A |
C |
12: 30,037,098 (GRCm39) |
N292T |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 78,977,445 (GRCm39) |
I1301V |
probably benign |
Het |
| Rnase11 |
T |
C |
14: 51,287,321 (GRCm39) |
I78V |
probably benign |
Het |
| Rpl41 |
A |
G |
10: 128,384,246 (GRCm39) |
|
probably benign |
Het |
| Sgf29 |
G |
A |
7: 126,264,103 (GRCm39) |
R56Q |
possibly damaging |
Het |
| Sis |
A |
G |
3: 72,819,209 (GRCm39) |
L1449S |
probably damaging |
Het |
| Slc34a2 |
T |
A |
5: 53,224,972 (GRCm39) |
V371D |
possibly damaging |
Het |
| Son |
C |
A |
16: 91,452,798 (GRCm39) |
T515K |
probably damaging |
Het |
| Tbx15 |
A |
T |
3: 99,223,562 (GRCm39) |
D250V |
probably damaging |
Het |
| Thoc2l |
T |
G |
5: 104,669,612 (GRCm39) |
V1378G |
probably benign |
Het |
| Tmem171 |
T |
A |
13: 98,823,026 (GRCm39) |
|
probably null |
Het |
| Ugt2b36 |
C |
T |
5: 87,228,728 (GRCm39) |
|
probably null |
Het |
| Vill |
G |
A |
9: 118,899,418 (GRCm39) |
|
probably null |
Het |
| Vmn2r22 |
A |
G |
6: 123,615,012 (GRCm39) |
F193L |
probably damaging |
Het |
| Vmn2r95 |
C |
T |
17: 18,672,590 (GRCm39) |
|
probably benign |
Het |
| Vstm2a |
T |
A |
11: 16,231,874 (GRCm39) |
V223D |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-06-28 |
Incidental Mutation