Incidental Mutation 'R8359:Ppp1r16b'
ID |
645901 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp1r16b
|
Ensembl Gene |
ENSMUSG00000037754 |
Gene Name |
protein phosphatase 1, regulatory subunit 16B |
Synonyms |
C130078N17Rik, Wdt4, ANKRD4 |
MMRRC Submission |
067872-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8359 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
158508653-158608254 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 158603295 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 407
(V407L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039540
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045503]
[ENSMUST00000052927]
[ENSMUST00000103116]
[ENSMUST00000145073]
|
AlphaFold |
Q8VHQ3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045503
AA Change: V407L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000039540 Gene: ENSMUSG00000037754 AA Change: V407L
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: V407L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000062615 Gene: ENSMUSG00000037754 AA Change: V407L
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: V407L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099405 Gene: ENSMUSG00000037754 AA Change: V407L
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: ENSMUST00000145073
AA Change: V307L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000117310 Gene: ENSMUSG00000037754 AA Change: V307L
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: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (55/55) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam5 |
A |
T |
8: 25,296,502 (GRCm39) |
V315D |
probably damaging |
Het |
Adgrf1 |
A |
T |
17: 43,621,286 (GRCm39) |
I508F |
probably damaging |
Het |
Atpaf2 |
T |
C |
11: 60,298,129 (GRCm39) |
D147G |
probably damaging |
Het |
Brwd1 |
T |
C |
16: 95,817,409 (GRCm39) |
T1368A |
probably damaging |
Het |
Cacna1s |
A |
T |
1: 136,043,799 (GRCm39) |
E1626V |
probably benign |
Het |
Carm1 |
G |
A |
9: 21,480,765 (GRCm39) |
V80I |
possibly damaging |
Het |
Cenpw |
T |
A |
10: 30,074,484 (GRCm39) |
D71V |
probably damaging |
Het |
Cit |
T |
A |
5: 116,122,603 (GRCm39) |
|
probably null |
Het |
Ckmt1 |
A |
T |
2: 121,193,531 (GRCm39) |
T364S |
probably benign |
Het |
Col6a4 |
T |
C |
9: 105,945,583 (GRCm39) |
S844G |
probably benign |
Het |
Crybg1 |
T |
C |
10: 43,868,538 (GRCm39) |
E1380G |
probably benign |
Het |
Cyp21a1 |
A |
G |
17: 35,021,105 (GRCm39) |
|
probably null |
Het |
Dhodh |
A |
C |
8: 110,333,038 (GRCm39) |
D12E |
probably benign |
Het |
Dnali1 |
T |
A |
4: 124,957,460 (GRCm39) |
T95S |
probably damaging |
Het |
Dynlrb1 |
A |
G |
2: 155,091,870 (GRCm39) |
N93D |
probably benign |
Het |
Edem1 |
C |
T |
6: 108,823,774 (GRCm39) |
A390V |
probably benign |
Het |
Enthd1 |
T |
C |
15: 80,358,356 (GRCm39) |
D388G |
probably benign |
Het |
Fam170a |
A |
G |
18: 50,414,677 (GRCm39) |
T108A |
probably damaging |
Het |
Fryl |
A |
G |
5: 73,233,276 (GRCm39) |
S1531P |
probably benign |
Het |
Golm2 |
A |
T |
2: 121,697,632 (GRCm39) |
|
probably benign |
Het |
Hspbap1 |
C |
A |
16: 35,645,366 (GRCm39) |
N350K |
probably benign |
Het |
Htr3b |
A |
C |
9: 48,858,596 (GRCm39) |
S94R |
probably damaging |
Het |
Ide |
A |
T |
19: 37,307,886 (GRCm39) |
V42E |
|
Het |
Igf2r |
A |
G |
17: 12,902,748 (GRCm39) |
V2434A |
probably benign |
Het |
Katnip |
T |
C |
7: 125,468,023 (GRCm39) |
|
probably null |
Het |
Kif16b |
G |
A |
2: 142,553,777 (GRCm39) |
A1007V |
probably benign |
Het |
Mccc1 |
C |
T |
3: 36,018,493 (GRCm39) |
V614I |
probably benign |
Het |
Mos |
A |
G |
4: 3,871,097 (GRCm39) |
Y240H |
probably damaging |
Het |
Myh11 |
C |
T |
16: 14,026,095 (GRCm39) |
|
probably null |
Het |
Nexn |
T |
A |
3: 151,953,998 (GRCm39) |
D166V |
probably damaging |
Het |
Or10h1b |
G |
A |
17: 33,395,895 (GRCm39) |
C173Y |
probably damaging |
Het |
Or2t47 |
G |
T |
11: 58,443,029 (GRCm39) |
T12N |
probably benign |
Het |
Or4p4 |
A |
T |
2: 88,483,332 (GRCm39) |
M279L |
probably benign |
Het |
Or5p81 |
T |
A |
7: 108,267,518 (GRCm39) |
N298K |
probably benign |
Het |
Pkp4 |
A |
G |
2: 59,180,895 (GRCm39) |
Y1061C |
probably damaging |
Het |
Pla2g6 |
T |
C |
15: 79,171,370 (GRCm39) |
D740G |
probably damaging |
Het |
Pla2r1 |
T |
A |
2: 60,273,627 (GRCm39) |
I920L |
probably benign |
Het |
Plekha2 |
A |
G |
8: 25,578,407 (GRCm39) |
I31T |
probably damaging |
Het |
Prss50 |
A |
G |
9: 110,691,370 (GRCm39) |
I225V |
probably damaging |
Het |
Rmdn2 |
A |
T |
17: 79,935,580 (GRCm39) |
E231V |
|
Het |
Sema3c |
T |
C |
5: 17,858,726 (GRCm39) |
S42P |
possibly damaging |
Het |
Sh2d1b1 |
T |
A |
1: 170,110,693 (GRCm39) |
|
probably null |
Het |
Slc22a20 |
T |
C |
19: 6,021,554 (GRCm39) |
I483V |
probably benign |
Het |
Slc30a2 |
T |
C |
4: 134,076,690 (GRCm39) |
V275A |
probably damaging |
Het |
Slc6a3 |
T |
A |
13: 73,693,002 (GRCm39) |
F207L |
probably benign |
Het |
Slc9a1 |
A |
T |
4: 133,147,927 (GRCm39) |
Q648H |
probably damaging |
Het |
Slpi |
A |
T |
2: 164,197,975 (GRCm39) |
M1K |
probably null |
Het |
Smc5 |
A |
C |
19: 23,211,443 (GRCm39) |
S564A |
possibly damaging |
Het |
Smchd1 |
A |
T |
17: 71,738,238 (GRCm39) |
F542L |
probably damaging |
Het |
Sycp1 |
T |
A |
3: 102,727,909 (GRCm39) |
K901N |
probably damaging |
Het |
Synpo2l |
T |
A |
14: 20,716,208 (GRCm39) |
T126S |
probably benign |
Het |
Upp2 |
A |
G |
2: 58,667,955 (GRCm39) |
N216S |
probably benign |
Het |
Wnk1 |
T |
C |
6: 119,969,408 (GRCm39) |
D349G |
probably damaging |
Het |
Zfp180 |
C |
T |
7: 23,804,337 (GRCm39) |
A252V |
probably benign |
Het |
Zfr2 |
C |
T |
10: 81,078,653 (GRCm39) |
T295I |
possibly damaging |
Het |
Zkscan16 |
C |
T |
4: 58,957,230 (GRCm39) |
T504I |
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 |
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 |
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'- TCTGCCCTACCATACAGAGC -3'
(R):5'- ATGGGTGACTGAGCAGCTTG -3'
Sequencing Primer
(F):5'- TACCATACAGAGCCTGGTGC -3'
(R):5'- TTGAAGCCACTCCAGGGTG -3'
|
Posted On |
2020-09-02 |