Incidental Mutation 'R7048:Ppp1r16b'
| ID |
547411 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r16b
|
| Ensembl Gene |
ENSMUSG00000037754 |
| Gene Name |
protein phosphatase 1, regulatory subunit 16B |
| Synonyms |
C130078N17Rik, Wdt4, ANKRD4 |
| MMRRC Submission |
045146-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7048 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
158508653-158608254 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 158599174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 382
(T382I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045503]
[ENSMUST00000052927]
[ENSMUST00000103116]
[ENSMUST00000145073]
|
| AlphaFold |
Q8VHQ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045503
AA Change: T382I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000039540
Gene: ENSMUSG00000037754
AA Change: T382I
| 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
AA Change: T382I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000062615
Gene: ENSMUSG00000037754
AA Change: T382I
| 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
AA Change: T382I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099405
Gene: ENSMUSG00000037754
AA Change: T382I
| 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: T282I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000117310
Gene: ENSMUSG00000037754
AA Change: T282I
| 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 |
0.0601 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
97% (66/68) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl2 |
T |
C |
3: 148,552,565 (GRCm39) |
D629G |
probably damaging |
Het |
| Akap11 |
T |
A |
14: 78,749,954 (GRCm39) |
Q811L |
|
Het |
| Ank2 |
T |
A |
3: 126,819,267 (GRCm39) |
Q468L |
probably benign |
Het |
| Ano3 |
A |
T |
2: 110,513,116 (GRCm39) |
Y626* |
probably null |
Het |
| Ap1m1 |
A |
G |
8: 73,003,642 (GRCm39) |
N114S |
probably damaging |
Het |
| Asb3 |
T |
A |
11: 31,051,121 (GRCm39) |
I525N |
probably damaging |
Het |
| Atg4a-ps |
A |
G |
3: 103,552,672 (GRCm39) |
I223T |
probably damaging |
Het |
| B3gnt7 |
T |
C |
1: 86,233,308 (GRCm39) |
Y68H |
probably benign |
Het |
| Bbs5 |
T |
C |
2: 69,484,705 (GRCm39) |
I125T |
probably benign |
Het |
| Cd180 |
A |
G |
13: 102,841,431 (GRCm39) |
N159S |
probably damaging |
Het |
| Cd37 |
T |
C |
7: 44,887,888 (GRCm39) |
|
probably benign |
Het |
| Cdk14 |
T |
A |
5: 5,143,005 (GRCm39) |
Q242L |
probably damaging |
Het |
| Clcn1 |
T |
C |
6: 42,284,477 (GRCm39) |
V605A |
probably damaging |
Het |
| Cped1 |
G |
A |
6: 22,119,469 (GRCm39) |
M309I |
probably benign |
Het |
| Cyp2r1 |
A |
T |
7: 114,151,971 (GRCm39) |
Y120N |
probably damaging |
Het |
| Ddx3y |
A |
T |
Y: 1,279,491 (GRCm39) |
S124R |
probably benign |
Het |
| Dlec1 |
A |
T |
9: 118,972,472 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
T |
C |
11: 117,936,944 (GRCm39) |
E3420G |
possibly damaging |
Het |
| Dnajc13 |
C |
T |
9: 104,080,613 (GRCm39) |
|
probably null |
Het |
| Dusp23 |
A |
T |
1: 172,459,253 (GRCm39) |
Y136* |
probably null |
Het |
| Eif4b |
A |
G |
15: 102,001,571 (GRCm39) |
|
probably benign |
Het |
| F13a1 |
A |
G |
13: 37,082,117 (GRCm39) |
V529A |
probably benign |
Het |
| Fhl2 |
A |
G |
1: 43,162,808 (GRCm39) |
Y236H |
probably damaging |
Het |
| Gm826 |
C |
T |
2: 160,169,026 (GRCm39) |
W94* |
probably null |
Het |
| Gpsm2 |
C |
T |
3: 108,610,361 (GRCm39) |
R33H |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,475,404 (GRCm39) |
|
probably null |
Het |
| Ifit1bl2 |
T |
C |
19: 34,596,551 (GRCm39) |
D355G |
probably benign |
Het |
| Itga8 |
A |
G |
2: 12,115,895 (GRCm39) |
V77A |
probably damaging |
Het |
| Kcmf1 |
C |
T |
6: 72,826,450 (GRCm39) |
R40K |
probably damaging |
Het |
| Kdm7a |
T |
C |
6: 39,145,982 (GRCm39) |
E315G |
probably damaging |
Het |
| Kmt2b |
C |
T |
7: 30,268,731 (GRCm39) |
G2666D |
probably damaging |
Het |
| Lrrtm1 |
A |
G |
6: 77,221,152 (GRCm39) |
N203S |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,767,969 (GRCm39) |
N5301D |
probably benign |
Het |
| Mest |
T |
G |
6: 30,742,723 (GRCm39) |
H108Q |
probably damaging |
Het |
| Mettl25b |
A |
G |
3: 87,837,167 (GRCm39) |
I36T |
probably damaging |
Het |
| Moxd1 |
C |
A |
10: 24,157,374 (GRCm39) |
D335E |
probably damaging |
Het |
| Ncf2 |
A |
C |
1: 152,683,921 (GRCm39) |
N47H |
probably benign |
Het |
| Npc1 |
A |
G |
18: 12,337,822 (GRCm39) |
|
probably null |
Het |
| Or14j2 |
A |
T |
17: 37,886,114 (GRCm39) |
S67T |
probably damaging |
Het |
| Pcid2 |
A |
G |
8: 13,128,243 (GRCm39) |
V386A |
probably benign |
Het |
| Phactr2 |
T |
A |
10: 13,121,168 (GRCm39) |
T444S |
probably benign |
Het |
| Plekha7 |
T |
C |
7: 115,747,559 (GRCm39) |
N710D |
probably benign |
Het |
| Pramel15 |
T |
C |
4: 144,103,754 (GRCm39) |
D124G |
probably benign |
Het |
| Ptprz1 |
A |
T |
6: 22,961,622 (GRCm39) |
Y111F |
probably benign |
Het |
| Rbbp8 |
A |
G |
18: 11,865,277 (GRCm39) |
E722G |
possibly damaging |
Het |
| Rimbp3 |
A |
G |
16: 17,028,190 (GRCm39) |
D538G |
probably benign |
Het |
| Rims1 |
A |
G |
1: 22,511,901 (GRCm39) |
S551P |
probably damaging |
Het |
| Rsrc1 |
A |
G |
3: 67,088,164 (GRCm39) |
D166G |
probably damaging |
Het |
| Selenon |
T |
C |
4: 134,270,154 (GRCm39) |
N350S |
probably benign |
Het |
| Sh3gl2 |
T |
A |
4: 85,295,802 (GRCm39) |
L168H |
probably damaging |
Het |
| Smc3 |
T |
C |
19: 53,617,682 (GRCm39) |
Y560H |
probably benign |
Het |
| Syce1 |
C |
T |
7: 140,359,281 (GRCm39) |
D147N |
possibly damaging |
Het |
| Syt10 |
A |
C |
15: 89,675,008 (GRCm39) |
V446G |
probably damaging |
Het |
| Taar1 |
T |
C |
10: 23,796,722 (GRCm39) |
L140P |
probably benign |
Het |
| Tfpi2 |
C |
A |
6: 3,968,032 (GRCm39) |
C36F |
probably damaging |
Het |
| Thoc5 |
G |
A |
11: 4,876,237 (GRCm39) |
|
probably null |
Het |
| Tnrc6c |
T |
A |
11: 117,612,800 (GRCm39) |
N319K |
probably benign |
Het |
| Trhr2 |
C |
T |
8: 123,085,418 (GRCm39) |
D189N |
probably damaging |
Het |
| Trim42 |
A |
T |
9: 97,245,474 (GRCm39) |
F442Y |
probably damaging |
Het |
| Ubap2 |
G |
A |
4: 41,196,033 (GRCm39) |
T949I |
possibly damaging |
Het |
| Ugt1a8 |
T |
C |
1: 88,016,024 (GRCm39) |
F146L |
probably benign |
Het |
| Vmn2r80 |
C |
A |
10: 79,030,153 (GRCm39) |
Q660K |
probably damaging |
Het |
| Vstm2b |
C |
T |
7: 40,578,800 (GRCm39) |
T258I |
possibly damaging |
Het |
| Washc2 |
T |
C |
6: 116,197,544 (GRCm39) |
L259P |
possibly damaging |
Het |
| Zscan18 |
A |
T |
7: 12,508,671 (GRCm39) |
|
probably benign |
Het |
| Zzef1 |
T |
G |
11: 72,757,525 (GRCm39) |
Y1193* |
probably null |
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 |
|
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'- TCATGAAGTCGCAGCTGAGG -3'
(R):5'- ATTAGCCACCAGACAGGAGC -3'
Sequencing Primer
(F):5'- AGCTGAGGCACAAGTCGTC -3'
(R):5'- CAGCTGCTTAAGGGCATCG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation