Incidental Mutation 'R1746:Ppp1r16b'
| ID |
193965 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r16b
|
| Ensembl Gene |
ENSMUSG00000037754 |
| Gene Name |
protein phosphatase 1, regulatory subunit 16B |
| Synonyms |
C130078N17Rik, Wdt4, ANKRD4 |
| MMRRC Submission |
039778-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1746 (G1)
|
| Quality Score |
111 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
158508653-158608254 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 158588585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117310
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045503]
[ENSMUST00000052927]
[ENSMUST00000103116]
[ENSMUST00000103116]
[ENSMUST00000145073]
[ENSMUST00000145073]
|
| AlphaFold |
Q8VHQ3 |
| Predicted Effect |
probably null
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 null
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 null
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 |
probably null
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 null
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 |
probably null
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 |
|
| Meta Mutation Damage Score |
0.9500 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.6%
|
| Validation Efficiency |
100% (62/62) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
T |
A |
13: 70,927,717 (GRCm39) |
|
probably null |
Het |
| Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
| Aknad1 |
A |
G |
3: 108,659,099 (GRCm39) |
T38A |
possibly damaging |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Arhgap21 |
T |
C |
2: 20,865,910 (GRCm39) |
E902G |
probably damaging |
Het |
| Atg2b |
A |
G |
12: 105,635,588 (GRCm39) |
S227P |
possibly damaging |
Het |
| Atp2c2 |
C |
T |
8: 120,461,182 (GRCm39) |
|
probably benign |
Het |
| Atxn10 |
T |
C |
15: 85,260,864 (GRCm39) |
V203A |
probably damaging |
Het |
| Chd9 |
A |
C |
8: 91,737,326 (GRCm39) |
E1468D |
probably benign |
Het |
| Cntn5 |
T |
A |
9: 9,831,577 (GRCm39) |
D601V |
probably damaging |
Het |
| Col4a2 |
G |
A |
8: 11,496,020 (GRCm39) |
G1547D |
probably benign |
Het |
| Cul1 |
A |
G |
6: 47,485,179 (GRCm39) |
E270G |
probably damaging |
Het |
| Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
| Dmgdh |
C |
A |
13: 93,888,933 (GRCm39) |
T857K |
probably benign |
Het |
| Ednra |
T |
G |
8: 78,398,211 (GRCm39) |
T279P |
probably benign |
Het |
| Erbin |
A |
G |
13: 103,987,339 (GRCm39) |
I407T |
probably damaging |
Het |
| Fggy |
A |
G |
4: 95,814,965 (GRCm39) |
Y440C |
probably damaging |
Het |
| Flrt2 |
A |
T |
12: 95,747,566 (GRCm39) |
N635Y |
possibly damaging |
Het |
| Fnbp1l |
A |
G |
3: 122,350,140 (GRCm39) |
I357T |
probably benign |
Het |
| Gulp1 |
A |
G |
1: 44,793,513 (GRCm39) |
H58R |
possibly damaging |
Het |
| Hid1 |
A |
T |
11: 115,245,464 (GRCm39) |
V446E |
probably damaging |
Het |
| Igfn1 |
A |
G |
1: 135,897,561 (GRCm39) |
S1002P |
possibly damaging |
Het |
| Klri1 |
A |
G |
6: 129,675,118 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
A |
C |
15: 98,762,259 (GRCm39) |
L409R |
probably damaging |
Het |
| Ltn1 |
A |
C |
16: 87,208,669 (GRCm39) |
S810A |
possibly damaging |
Het |
| Mysm1 |
G |
A |
4: 94,836,648 (GRCm39) |
Q721* |
probably null |
Het |
| Nae1 |
A |
G |
8: 105,254,017 (GRCm39) |
V105A |
possibly damaging |
Het |
| Nagpa |
C |
T |
16: 5,021,503 (GRCm39) |
V83M |
probably damaging |
Het |
| Nrg2 |
G |
A |
18: 36,154,975 (GRCm39) |
T503M |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,221,789 (GRCm39) |
M150V |
possibly damaging |
Het |
| Or5p52 |
C |
A |
7: 107,502,093 (GRCm39) |
H56Q |
probably benign |
Het |
| Or8g28 |
A |
G |
9: 39,169,498 (GRCm39) |
S157P |
probably damaging |
Het |
| Papola |
T |
A |
12: 105,773,468 (GRCm39) |
D162E |
probably benign |
Het |
| Plxnc1 |
T |
C |
10: 94,680,041 (GRCm39) |
|
probably null |
Het |
| Ptprq |
T |
A |
10: 107,474,691 (GRCm39) |
E1338V |
probably damaging |
Het |
| Puf60 |
G |
A |
15: 75,942,633 (GRCm39) |
H437Y |
probably benign |
Het |
| Qsox2 |
C |
T |
2: 26,110,650 (GRCm39) |
V189I |
probably benign |
Het |
| Rad51ap2 |
A |
T |
12: 11,507,776 (GRCm39) |
D566V |
probably benign |
Het |
| Rb1cc1 |
T |
A |
1: 6,333,237 (GRCm39) |
|
probably null |
Het |
| Rfpl4b |
C |
T |
10: 38,697,049 (GRCm39) |
C184Y |
possibly damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rundc3a |
GAGCC |
GAGCCAGCC |
11: 102,291,739 (GRCm39) |
|
probably null |
Het |
| Scara5 |
A |
C |
14: 65,968,539 (GRCm39) |
M271L |
probably benign |
Het |
| Sel1l2 |
A |
G |
2: 140,127,157 (GRCm39) |
L118P |
probably damaging |
Het |
| Sema6a |
T |
A |
18: 47,439,416 (GRCm39) |
|
probably benign |
Het |
| Siglech |
T |
A |
7: 55,418,252 (GRCm39) |
H73Q |
probably benign |
Het |
| Sim1 |
A |
G |
10: 50,860,205 (GRCm39) |
D689G |
probably benign |
Het |
| Skp2 |
T |
C |
15: 9,139,530 (GRCm39) |
E55G |
possibly damaging |
Het |
| Slc1a1 |
T |
A |
19: 28,871,869 (GRCm39) |
V114E |
probably benign |
Het |
| Slc26a6 |
G |
A |
9: 108,738,916 (GRCm39) |
G614D |
probably benign |
Het |
| Sptbn2 |
C |
T |
19: 4,795,992 (GRCm39) |
Q1724* |
probably null |
Het |
| Tet3 |
T |
C |
6: 83,345,050 (GRCm39) |
T1796A |
probably damaging |
Het |
| Tmem117 |
A |
C |
15: 94,829,714 (GRCm39) |
D183A |
possibly damaging |
Het |
| Trmt44 |
A |
G |
5: 35,721,403 (GRCm39) |
S587P |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,619,166 (GRCm39) |
|
probably benign |
Het |
| Tubgcp5 |
G |
A |
7: 55,458,285 (GRCm39) |
V399M |
probably benign |
Het |
| Txndc2 |
T |
A |
17: 65,945,130 (GRCm39) |
D349V |
probably damaging |
Het |
| Uggt2 |
T |
A |
14: 119,250,915 (GRCm39) |
N1194I |
probably benign |
Het |
| Vmn1r178 |
A |
T |
7: 23,593,329 (GRCm39) |
I53L |
probably benign |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGGCAGAACTTACAATACTCAGGC -3'
(R):5'- GTTCTCAACAAGGGAGACAGCATGG -3'
Sequencing Primer
(F):5'- AGCATGTGAGCTGTGTCCC -3'
(R):5'- ggagagagagagagagagagag -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation