Incidental Mutation 'R3907:Ppp1r16b'
| ID |
310234 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r16b
|
| Ensembl Gene |
ENSMUSG00000037754 |
| Gene Name |
protein phosphatase 1, regulatory subunit 16B |
| Synonyms |
C130078N17Rik, Wdt4, ANKRD4 |
| MMRRC Submission |
040908-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3907 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
158508653-158608254 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 158603410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 345
(I345T)
|
| 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
AA Change: I445T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000039540
Gene: ENSMUSG00000037754
AA Change: I445T
| 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: I445T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000062615
Gene: ENSMUSG00000037754
AA Change: I445T
| 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: I445T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099405
Gene: ENSMUSG00000037754
AA Change: I445T
| 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: I345T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000117310
Gene: ENSMUSG00000037754
AA Change: I345T
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
97% (56/58) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
C |
A |
5: 90,009,214 (GRCm39) |
G150C |
probably damaging |
Het |
| Ampd3 |
A |
G |
7: 110,392,877 (GRCm39) |
D215G |
possibly damaging |
Het |
| Ank2 |
A |
G |
3: 126,810,547 (GRCm39) |
L513P |
probably damaging |
Het |
| Apba1 |
T |
C |
19: 23,914,870 (GRCm39) |
I690T |
probably damaging |
Het |
| Arid1a |
T |
C |
4: 133,420,223 (GRCm39) |
|
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Asns |
C |
T |
6: 7,682,270 (GRCm39) |
|
probably null |
Het |
| Aspg |
T |
A |
12: 112,078,693 (GRCm39) |
Y57* |
probably null |
Het |
| Asph |
T |
C |
4: 9,474,934 (GRCm39) |
K680R |
probably benign |
Het |
| Atp2b4 |
A |
T |
1: 133,666,324 (GRCm39) |
S243T |
probably damaging |
Het |
| Cacna1s |
T |
A |
1: 136,012,007 (GRCm39) |
M483K |
probably damaging |
Het |
| Car4 |
G |
A |
11: 84,855,183 (GRCm39) |
V141M |
probably damaging |
Het |
| Cct4 |
A |
G |
11: 22,951,560 (GRCm39) |
I376V |
probably benign |
Het |
| Chrm4 |
C |
T |
2: 91,758,084 (GRCm39) |
A164V |
probably damaging |
Het |
| Csf3r |
A |
T |
4: 125,928,240 (GRCm39) |
D291V |
probably benign |
Het |
| Dcaf6 |
A |
T |
1: 165,251,949 (GRCm39) |
C58* |
probably null |
Het |
| Ddi2 |
T |
C |
4: 141,411,592 (GRCm39) |
D440G |
probably benign |
Het |
| Defb4 |
A |
T |
8: 19,251,277 (GRCm39) |
Q48L |
possibly damaging |
Het |
| Dnaaf9 |
C |
T |
2: 130,578,496 (GRCm39) |
A663T |
probably damaging |
Het |
| Duox2 |
C |
T |
2: 122,113,541 (GRCm39) |
|
probably null |
Het |
| E130308A19Rik |
C |
T |
4: 59,752,393 (GRCm39) |
T502I |
probably benign |
Het |
| Ephb1 |
A |
G |
9: 101,878,925 (GRCm39) |
C522R |
probably benign |
Het |
| Fam76a |
T |
C |
4: 132,643,432 (GRCm39) |
K101E |
probably damaging |
Het |
| Fat1 |
G |
C |
8: 45,476,072 (GRCm39) |
R1706T |
probably benign |
Het |
| Fn1 |
C |
T |
1: 71,647,072 (GRCm39) |
G1482R |
probably damaging |
Het |
| Gm10110 |
T |
C |
14: 90,135,583 (GRCm39) |
|
noncoding transcript |
Het |
| Gphn |
T |
A |
12: 78,540,716 (GRCm39) |
|
probably benign |
Het |
| Hars1 |
A |
T |
18: 36,915,769 (GRCm39) |
D48E |
probably benign |
Het |
| Hmgcll1 |
G |
A |
9: 75,979,943 (GRCm39) |
R111H |
probably benign |
Het |
| Ighv3-4 |
A |
G |
12: 114,217,538 (GRCm39) |
S18P |
probably damaging |
Het |
| Iws1 |
G |
A |
18: 32,212,973 (GRCm39) |
E134K |
possibly damaging |
Het |
| Kcnj4 |
G |
T |
15: 79,369,946 (GRCm39) |
H11Q |
probably benign |
Het |
| Krt16 |
A |
G |
11: 100,137,989 (GRCm39) |
V329A |
possibly damaging |
Het |
| Loxhd1 |
A |
T |
18: 77,496,464 (GRCm39) |
M1575L |
possibly damaging |
Het |
| Mapkapk2 |
A |
T |
1: 130,984,651 (GRCm39) |
S234T |
probably damaging |
Het |
| Mxd1 |
G |
T |
6: 86,627,942 (GRCm39) |
Q199K |
probably benign |
Het |
| Nlrp5 |
T |
A |
7: 23,133,071 (GRCm39) |
D905E |
possibly damaging |
Het |
| Or4c117 |
A |
C |
2: 88,955,927 (GRCm39) |
Y49* |
probably null |
Het |
| Or6z7 |
A |
T |
7: 6,483,678 (GRCm39) |
V159D |
probably damaging |
Het |
| Otoa |
A |
T |
7: 120,724,788 (GRCm39) |
Q489L |
probably damaging |
Het |
| Pced1b |
T |
C |
15: 97,282,431 (GRCm39) |
S157P |
probably damaging |
Het |
| Prrt4 |
G |
T |
6: 29,177,173 (GRCm39) |
L199M |
probably damaging |
Het |
| Ptpn6 |
T |
C |
6: 124,702,239 (GRCm39) |
D347G |
possibly damaging |
Het |
| Pwwp3a |
T |
C |
10: 80,074,150 (GRCm39) |
V401A |
probably damaging |
Het |
| Rcan1 |
A |
G |
16: 92,262,917 (GRCm39) |
|
probably benign |
Het |
| Rif1 |
C |
T |
2: 52,002,557 (GRCm39) |
L2004F |
probably benign |
Het |
| Rnf185 |
A |
G |
11: 3,376,681 (GRCm39) |
|
probably benign |
Het |
| Shank2 |
C |
T |
7: 143,963,313 (GRCm39) |
P307L |
probably damaging |
Het |
| Slc19a3 |
G |
A |
1: 82,992,534 (GRCm39) |
R396C |
possibly damaging |
Het |
| Stn1 |
T |
C |
19: 47,496,262 (GRCm39) |
D321G |
probably damaging |
Het |
| Taar7a |
T |
C |
10: 23,868,457 (GRCm39) |
Y308C |
probably benign |
Het |
| Tespa1 |
T |
C |
10: 130,192,666 (GRCm39) |
|
probably benign |
Het |
| Tmcc2 |
T |
C |
1: 132,288,376 (GRCm39) |
D359G |
probably damaging |
Het |
| Trhde |
C |
T |
10: 114,636,601 (GRCm39) |
G202E |
possibly damaging |
Het |
| Trip12 |
T |
C |
1: 84,709,827 (GRCm39) |
T469A |
possibly damaging |
Het |
| Trip4 |
A |
G |
9: 65,740,708 (GRCm39) |
I533T |
probably benign |
Het |
| Tsc22d1 |
T |
C |
14: 76,653,983 (GRCm39) |
I154T |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,733,686 (GRCm39) |
|
probably benign |
Het |
| Ugt8a |
T |
C |
3: 125,708,631 (GRCm39) |
T160A |
possibly damaging |
Het |
| Usp54 |
A |
T |
14: 20,636,181 (GRCm39) |
S288T |
probably damaging |
Het |
| Utrn |
C |
T |
10: 12,585,926 (GRCm39) |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACGATGATACTGATGCTATCCTC -3'
(R):5'- TTCTGCCTCCAATCAAGGGG -3'
Sequencing Primer
(F):5'- GATGATACTGATGCTATCCTCTTGTC -3'
(R):5'- GGCCTTGCCTTCGCTGC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation