Incidental Mutation 'R8677:Ppp1r16b'
| ID |
661426 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r16b
|
| Ensembl Gene |
ENSMUSG00000037754 |
| Gene Name |
protein phosphatase 1, regulatory subunit 16B |
| Synonyms |
C130078N17Rik, Wdt4, ANKRD4 |
| MMRRC Submission |
068532-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8677 (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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acd |
A |
C |
8: 106,427,576 (GRCm39) |
S25R |
probably damaging |
Het |
| Acly |
A |
T |
11: 100,410,569 (GRCm39) |
H136Q |
probably damaging |
Het |
| Adrm1 |
C |
T |
2: 179,813,832 (GRCm39) |
T2M |
probably benign |
Het |
| Ankrd12 |
A |
T |
17: 66,331,209 (GRCm39) |
L246M |
probably damaging |
Het |
| Bltp2 |
C |
T |
11: 78,174,982 (GRCm39) |
R1706C |
probably damaging |
Het |
| Cacnb3 |
T |
C |
15: 98,539,931 (GRCm39) |
L258P |
probably damaging |
Het |
| Cd36 |
C |
T |
5: 18,025,493 (GRCm39) |
V76M |
probably damaging |
Het |
| Cep120 |
A |
G |
18: 53,871,633 (GRCm39) |
F80L |
possibly damaging |
Het |
| Clcn1 |
A |
T |
6: 42,267,519 (GRCm39) |
|
probably null |
Het |
| Col17a1 |
T |
C |
19: 47,640,240 (GRCm39) |
T1042A |
probably benign |
Het |
| Comp |
A |
T |
8: 70,832,910 (GRCm39) |
N623Y |
probably damaging |
Het |
| Ctnnal1 |
A |
G |
4: 56,813,272 (GRCm39) |
L653P |
probably benign |
Het |
| Cx3cl1 |
G |
T |
8: 95,506,443 (GRCm39) |
R149S |
probably benign |
Het |
| Dbndd2 |
T |
A |
2: 164,330,522 (GRCm39) |
N58K |
probably damaging |
Het |
| Dclk1 |
A |
G |
3: 55,409,840 (GRCm39) |
I595V |
probably damaging |
Het |
| Dhx15 |
T |
C |
5: 52,341,886 (GRCm39) |
D144G |
probably benign |
Het |
| Dlat |
T |
C |
9: 50,570,007 (GRCm39) |
E120G |
probably damaging |
Het |
| Fam171a1 |
T |
A |
2: 3,221,352 (GRCm39) |
Y273N |
probably damaging |
Het |
| Fndc3b |
A |
T |
3: 27,511,176 (GRCm39) |
V778D |
probably benign |
Het |
| Grn |
T |
C |
11: 102,324,393 (GRCm39) |
S129P |
possibly damaging |
Het |
| Grxcr1 |
T |
C |
5: 68,267,757 (GRCm39) |
F169L |
possibly damaging |
Het |
| Hcn2 |
A |
G |
10: 79,560,619 (GRCm39) |
I317V |
probably benign |
Het |
| Heca |
T |
C |
10: 17,791,424 (GRCm39) |
N211D |
probably benign |
Het |
| Htr1f |
T |
C |
16: 64,746,414 (GRCm39) |
T293A |
possibly damaging |
Het |
| Ifitm10 |
T |
A |
7: 141,909,749 (GRCm39) |
I116F |
probably benign |
Het |
| Itprid1 |
A |
G |
6: 55,849,579 (GRCm39) |
H37R |
probably benign |
Het |
| Ivl |
A |
T |
3: 92,479,986 (GRCm39) |
D26E |
probably benign |
Het |
| Kcnma1 |
T |
A |
14: 23,436,418 (GRCm39) |
E761V |
probably benign |
Het |
| Ltbp1 |
G |
T |
17: 75,655,753 (GRCm39) |
V923F |
probably benign |
Het |
| Mfsd4b2 |
A |
T |
10: 39,799,805 (GRCm39) |
F32L |
probably benign |
Het |
| Micu2 |
T |
C |
14: 58,161,420 (GRCm39) |
R301G |
possibly damaging |
Het |
| Miip |
C |
T |
4: 147,947,503 (GRCm39) |
C219Y |
probably damaging |
Het |
| Mn1 |
T |
A |
5: 111,566,885 (GRCm39) |
L285* |
probably null |
Het |
| Mthfd1l |
T |
A |
10: 3,998,250 (GRCm39) |
N664K |
possibly damaging |
Het |
| Mttp |
A |
T |
3: 137,810,437 (GRCm39) |
H659Q |
probably benign |
Het |
| Myadml2 |
G |
A |
11: 120,538,815 (GRCm39) |
P7S |
probably benign |
Het |
| Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
| Nlrp4c |
C |
T |
7: 6,075,644 (GRCm39) |
T645I |
probably damaging |
Het |
| Notch1 |
C |
T |
2: 26,359,936 (GRCm39) |
V1260I |
probably damaging |
Het |
| Numa1 |
T |
C |
7: 101,650,148 (GRCm39) |
L1293P |
probably damaging |
Het |
| Or1a1 |
A |
T |
11: 74,086,415 (GRCm39) |
I29F |
probably benign |
Het |
| Or56a4 |
A |
G |
7: 104,806,775 (GRCm39) |
L38P |
probably benign |
Het |
| Pcdh12 |
G |
T |
18: 38,415,191 (GRCm39) |
H645N |
probably benign |
Het |
| Pdcd1 |
A |
T |
1: 93,968,952 (GRCm39) |
L122H |
probably damaging |
Het |
| Pknox2 |
G |
A |
9: 36,821,887 (GRCm39) |
P246L |
probably damaging |
Het |
| Polr2a |
A |
T |
11: 69,626,381 (GRCm39) |
S1590T |
possibly damaging |
Het |
| Proser1 |
A |
G |
3: 53,385,122 (GRCm39) |
T335A |
probably benign |
Het |
| Ptprc |
A |
G |
1: 138,011,335 (GRCm39) |
I598T |
probably damaging |
Het |
| Rasal3 |
T |
C |
17: 32,615,828 (GRCm39) |
T337A |
probably benign |
Het |
| Rasgrp3 |
A |
T |
17: 75,819,055 (GRCm39) |
T415S |
probably benign |
Het |
| Rbm7 |
T |
A |
9: 48,401,273 (GRCm39) |
R152* |
probably null |
Het |
| Sanbr |
T |
C |
11: 23,545,471 (GRCm39) |
D474G |
probably benign |
Het |
| Sf3b2 |
C |
T |
19: 5,336,257 (GRCm39) |
R513H |
probably damaging |
Het |
| Slc22a30 |
A |
G |
19: 8,364,035 (GRCm39) |
S214P |
probably benign |
Het |
| Spam1 |
A |
G |
6: 24,796,984 (GRCm39) |
T312A |
probably benign |
Het |
| Ssh2 |
A |
G |
11: 77,346,019 (GRCm39) |
T1335A |
possibly damaging |
Het |
| Tef |
T |
A |
15: 81,699,169 (GRCm39) |
L59Q |
probably damaging |
Het |
| Tmem131l |
A |
C |
3: 83,836,009 (GRCm39) |
V700G |
probably damaging |
Het |
| Twsg1 |
A |
G |
17: 66,233,402 (GRCm39) |
S183P |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,840,243 (GRCm39) |
T203A |
probably benign |
Het |
| Uqcc6 |
G |
T |
10: 82,456,050 (GRCm39) |
T37K |
possibly damaging |
Het |
| Vmn2r75 |
G |
T |
7: 85,814,410 (GRCm39) |
P361Q |
possibly damaging |
Het |
| Xirp2 |
A |
T |
2: 67,346,978 (GRCm39) |
N3073I |
probably damaging |
Het |
| Zfp114 |
A |
G |
7: 23,880,070 (GRCm39) |
N140D |
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 |
|
|
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'- ACATTTGTGCCCTGGGTGAC -3'
(R):5'- TATATTCCAGGAGCAGCAGGGG -3'
Sequencing Primer
(F):5'- TGACTGGCAGACTCTGACGAG -3'
(R):5'- GGTCTGGAGGAGGCCCAAG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation