Incidental Mutation 'R9483:Ppp1r13b'
| ID |
716393 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r13b
|
| Ensembl Gene |
ENSMUSG00000021285 |
| Gene Name |
protein phosphatase 1, regulatory subunit 13B |
| Synonyms |
ASPP1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.864)
|
| Stock # |
R9483 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
111794891-111874544 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 111800210 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 645
(K645N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062464
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054815]
[ENSMUST00000220486]
[ENSMUST00000222843]
|
| AlphaFold |
Q62415 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054815
AA Change: K645N
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000062464
Gene: ENSMUSG00000021285
AA Change: K645N
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2UWQ|A
|
1 |
83 |
8e-35 |
PDB |
|
Blast:RA
|
5 |
84 |
3e-47 |
BLAST |
|
coiled coil region
|
123 |
305 |
N/A |
INTRINSIC |
|
low complexity region
|
437 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
523 |
539 |
N/A |
INTRINSIC |
|
low complexity region
|
610 |
625 |
N/A |
INTRINSIC |
|
PDB:4IRV|H
|
695 |
741 |
1e-12 |
PDB |
|
ANK
|
917 |
946 |
4.16e-7 |
SMART |
|
ANK
|
950 |
979 |
4.63e-5 |
SMART |
|
SH3
|
1019 |
1077 |
1.79e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220486
AA Change: K522N
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222843
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. ASPP proteins are required for the induction of apoptosis by p53-family proteins. They promote DNA binding and transactivation of p53-family proteins on the promoters of proapoptotic genes. Expression of this gene is regulated by the E2F transcription factor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants show lymphatic vascular phenotypes with subcutaneous edema detected only during embryogenesis, delayed lymphatic vessel formation, and mispatterned collecting lymphatic vessels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
A |
T |
5: 113,339,010 (GRCm39) |
M334K |
probably benign |
Het |
| Abca1 |
A |
T |
4: 53,060,351 (GRCm39) |
I1525N |
probably benign |
Het |
| Abca4 |
A |
T |
3: 121,879,275 (GRCm39) |
I398F |
|
Het |
| Acbd3 |
A |
G |
1: 180,572,721 (GRCm39) |
D327G |
probably benign |
Het |
| Acsm3 |
A |
G |
7: 119,383,166 (GRCm39) |
T544A |
probably damaging |
Het |
| Atp11a |
C |
T |
8: 12,901,087 (GRCm39) |
T972M |
probably damaging |
Het |
| Cbfb |
C |
T |
8: 105,929,123 (GRCm39) |
R147* |
probably null |
Het |
| Ccdc17 |
G |
T |
4: 116,454,144 (GRCm39) |
R54L |
probably benign |
Het |
| Cracdl |
T |
G |
1: 37,670,496 (GRCm39) |
E148A |
probably damaging |
Het |
| Cuedc2 |
G |
T |
19: 46,319,399 (GRCm39) |
A223E |
probably benign |
Het |
| Cul5 |
T |
C |
9: 53,532,474 (GRCm39) |
I787V |
probably benign |
Het |
| D430041D05Rik |
T |
A |
2: 104,087,563 (GRCm39) |
H471L |
probably benign |
Het |
| Ddx39a |
T |
C |
8: 84,448,916 (GRCm39) |
Y264H |
probably benign |
Het |
| Dlgap3 |
C |
A |
4: 127,127,665 (GRCm39) |
R778S |
probably damaging |
Het |
| Esrrg |
T |
C |
1: 187,930,848 (GRCm39) |
V313A |
probably damaging |
Het |
| Fam124a |
T |
C |
14: 62,844,100 (GRCm39) |
I536T |
probably damaging |
Het |
| Fbxo21 |
T |
C |
5: 118,127,272 (GRCm39) |
F275L |
possibly damaging |
Het |
| Gabrg1 |
C |
A |
5: 70,999,558 (GRCm39) |
G2V |
possibly damaging |
Het |
| Gcc1 |
G |
T |
6: 28,418,089 (GRCm39) |
A748D |
probably damaging |
Het |
| Gjb6 |
T |
C |
14: 57,361,511 (GRCm39) |
D250G |
probably benign |
Het |
| Gm44501 |
A |
T |
17: 40,889,872 (GRCm39) |
K129* |
probably null |
Het |
| Hmcn2 |
T |
G |
2: 31,320,375 (GRCm39) |
L3952R |
|
Het |
| Hpd |
A |
G |
5: 123,312,535 (GRCm39) |
I278T |
probably damaging |
Het |
| Igsf3 |
T |
A |
3: 101,346,904 (GRCm39) |
F613Y |
probably damaging |
Het |
| Igsf3 |
T |
C |
3: 101,346,817 (GRCm39) |
F584S |
probably damaging |
Het |
| Ik |
A |
G |
18: 36,886,635 (GRCm39) |
D369G |
probably benign |
Het |
| Ikbke |
A |
G |
1: 131,198,719 (GRCm39) |
L365P |
probably damaging |
Het |
| Il22ra2 |
A |
T |
10: 19,508,542 (GRCm39) |
Q190L |
possibly damaging |
Het |
| Itga6 |
T |
C |
2: 71,679,834 (GRCm39) |
V1033A |
probably benign |
Het |
| Kif18a |
T |
C |
2: 109,120,032 (GRCm39) |
Y112H |
probably damaging |
Het |
| Krt75 |
T |
C |
15: 101,482,238 (GRCm39) |
H10R |
probably benign |
Het |
| L3mbtl1 |
T |
A |
2: 162,790,734 (GRCm39) |
L93H |
probably benign |
Het |
| Lrfn1 |
G |
A |
7: 28,158,183 (GRCm39) |
C34Y |
probably damaging |
Het |
| Lrrc47 |
A |
T |
4: 154,101,920 (GRCm39) |
I396F |
probably damaging |
Het |
| Mgat3 |
T |
A |
15: 80,095,641 (GRCm39) |
V156E |
probably benign |
Het |
| Mtus2 |
A |
G |
5: 148,232,300 (GRCm39) |
D1120G |
possibly damaging |
Het |
| Muc5ac |
G |
T |
7: 141,365,465 (GRCm39) |
E2700* |
probably null |
Het |
| Nxpe5 |
A |
T |
5: 138,228,591 (GRCm39) |
|
probably benign |
Het |
| Or51v15-ps1 |
T |
C |
7: 103,278,931 (GRCm39) |
T79A |
probably damaging |
Het |
| Or5aq6 |
A |
T |
2: 86,923,390 (GRCm39) |
M117K |
possibly damaging |
Het |
| Pcdhga4 |
T |
A |
18: 37,819,746 (GRCm39) |
S432T |
possibly damaging |
Het |
| Pdk4 |
T |
A |
6: 5,486,716 (GRCm39) |
M353L |
probably benign |
Het |
| Ppt1 |
A |
T |
4: 122,751,367 (GRCm39) |
D288V |
possibly damaging |
Het |
| Prkcb |
A |
G |
7: 122,181,663 (GRCm39) |
Y417C |
probably damaging |
Het |
| Prss22 |
A |
G |
17: 24,215,721 (GRCm39) |
I67T |
probably damaging |
Het |
| Rab29 |
T |
C |
1: 131,795,508 (GRCm39) |
V40A |
possibly damaging |
Het |
| Rae1 |
T |
C |
2: 172,849,941 (GRCm39) |
|
probably null |
Het |
| Rasa3 |
C |
T |
8: 13,630,033 (GRCm39) |
|
probably null |
Het |
| Rasgrp3 |
A |
G |
17: 75,807,717 (GRCm39) |
D258G |
probably benign |
Het |
| Rcc1 |
T |
A |
4: 132,062,808 (GRCm39) |
T208S |
probably benign |
Het |
| Rgs3 |
C |
A |
4: 62,575,354 (GRCm39) |
Y580* |
probably null |
Het |
| Rpe65 |
C |
T |
3: 159,328,318 (GRCm39) |
P405S |
probably damaging |
Het |
| Rsf1 |
GGCGGC |
GGCGGCGGCAGCGGC |
7: 97,229,137 (GRCm39) |
|
probably benign |
Het |
| Rsph4a |
A |
G |
10: 33,790,418 (GRCm39) |
E669G |
probably damaging |
Het |
| Rusc1 |
A |
T |
3: 88,994,113 (GRCm39) |
V964E |
probably benign |
Het |
| Rusc2 |
A |
G |
4: 43,415,897 (GRCm39) |
N401S |
probably damaging |
Het |
| Slc10a1 |
G |
T |
12: 81,002,864 (GRCm39) |
T258K |
probably damaging |
Het |
| Slc5a9 |
A |
G |
4: 111,747,418 (GRCm39) |
L323P |
probably damaging |
Het |
| Slc6a17 |
T |
A |
3: 107,378,772 (GRCm39) |
I637F |
possibly damaging |
Het |
| Slc8a2 |
A |
G |
7: 15,886,780 (GRCm39) |
E641G |
possibly damaging |
Het |
| Sptbn2 |
G |
T |
19: 4,789,974 (GRCm39) |
A1321S |
probably damaging |
Het |
| Ssh2 |
G |
T |
11: 77,283,976 (GRCm39) |
A77S |
possibly damaging |
Het |
| St13 |
G |
T |
15: 81,250,587 (GRCm39) |
N316K |
probably damaging |
Het |
| Taf10 |
A |
G |
7: 105,393,062 (GRCm39) |
M121T |
probably benign |
Het |
| Tcta |
T |
C |
9: 108,182,942 (GRCm39) |
T68A |
probably damaging |
Het |
| Timd2 |
A |
T |
11: 46,577,889 (GRCm39) |
Y81N |
probably damaging |
Het |
| Tln2 |
T |
C |
9: 67,299,769 (GRCm39) |
E161G |
probably damaging |
Het |
| Tmed10 |
T |
C |
12: 85,397,621 (GRCm39) |
I123V |
probably benign |
Het |
| Ttf1 |
T |
C |
2: 28,969,492 (GRCm39) |
|
probably null |
Het |
| Tubg1 |
A |
G |
11: 101,016,886 (GRCm39) |
D396G |
probably damaging |
Het |
| Uhmk1 |
A |
G |
1: 170,034,913 (GRCm39) |
|
probably null |
Het |
| Unc13a |
C |
T |
8: 72,103,221 (GRCm39) |
A922T |
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,219,379 (GRCm39) |
V525E |
probably damaging |
Het |
| Usp28 |
C |
A |
9: 48,947,037 (GRCm39) |
Q823K |
probably damaging |
Het |
| Vldlr |
A |
T |
19: 27,224,031 (GRCm39) |
I764F |
probably benign |
Het |
| Vmn2r88 |
T |
C |
14: 51,648,641 (GRCm39) |
Y62H |
|
Het |
| Zfp423 |
T |
A |
8: 88,507,725 (GRCm39) |
N873I |
possibly damaging |
Het |
|
| Other mutations in Ppp1r13b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00467:Ppp1r13b
|
APN |
12 |
111,795,804 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01102:Ppp1r13b
|
APN |
12 |
111,799,653 (GRCm39) |
missense |
probably benign |
|
|
IGL01621:Ppp1r13b
|
APN |
12 |
111,801,526 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01677:Ppp1r13b
|
APN |
12 |
111,810,099 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01720:Ppp1r13b
|
APN |
12 |
111,824,694 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01921:Ppp1r13b
|
APN |
12 |
111,799,671 (GRCm39) |
missense |
probably benign |
|
|
IGL02059:Ppp1r13b
|
APN |
12 |
111,799,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02187:Ppp1r13b
|
APN |
12 |
111,801,472 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02262:Ppp1r13b
|
APN |
12 |
111,801,645 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02385:Ppp1r13b
|
APN |
12 |
111,801,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02894:Ppp1r13b
|
APN |
12 |
111,797,888 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03027:Ppp1r13b
|
APN |
12 |
111,796,830 (GRCm39) |
nonsense |
probably null |
|
|
IGL03049:Ppp1r13b
|
APN |
12 |
111,799,663 (GRCm39) |
missense |
probably benign |
0.29 |
|
PIT4468001:Ppp1r13b
|
UTSW |
12 |
111,805,136 (GRCm39) |
missense |
probably benign |
0.08 |
|
PIT4472001:Ppp1r13b
|
UTSW |
12 |
111,799,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0393:Ppp1r13b
|
UTSW |
12 |
111,802,122 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0561:Ppp1r13b
|
UTSW |
12 |
111,832,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1067:Ppp1r13b
|
UTSW |
12 |
111,801,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1208:Ppp1r13b
|
UTSW |
12 |
111,811,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1208:Ppp1r13b
|
UTSW |
12 |
111,811,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1512:Ppp1r13b
|
UTSW |
12 |
111,838,842 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1563:Ppp1r13b
|
UTSW |
12 |
111,807,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1918:Ppp1r13b
|
UTSW |
12 |
111,801,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2014:Ppp1r13b
|
UTSW |
12 |
111,800,222 (GRCm39) |
missense |
probably benign |
|
|
R2134:Ppp1r13b
|
UTSW |
12 |
111,800,167 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2306:Ppp1r13b
|
UTSW |
12 |
111,811,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3508:Ppp1r13b
|
UTSW |
12 |
111,838,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3767:Ppp1r13b
|
UTSW |
12 |
111,812,851 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4237:Ppp1r13b
|
UTSW |
12 |
111,805,170 (GRCm39) |
missense |
probably benign |
|
|
R4278:Ppp1r13b
|
UTSW |
12 |
111,796,818 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4690:Ppp1r13b
|
UTSW |
12 |
111,798,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4702:Ppp1r13b
|
UTSW |
12 |
111,799,715 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5094:Ppp1r13b
|
UTSW |
12 |
111,810,044 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5250:Ppp1r13b
|
UTSW |
12 |
111,811,394 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5444:Ppp1r13b
|
UTSW |
12 |
111,805,122 (GRCm39) |
missense |
probably benign |
|
|
R5607:Ppp1r13b
|
UTSW |
12 |
111,800,223 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5874:Ppp1r13b
|
UTSW |
12 |
111,811,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5935:Ppp1r13b
|
UTSW |
12 |
111,796,876 (GRCm39) |
missense |
probably benign |
|
|
R6074:Ppp1r13b
|
UTSW |
12 |
111,798,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6253:Ppp1r13b
|
UTSW |
12 |
111,802,160 (GRCm39) |
missense |
probably benign |
|
|
R6511:Ppp1r13b
|
UTSW |
12 |
111,798,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6836:Ppp1r13b
|
UTSW |
12 |
111,801,629 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6968:Ppp1r13b
|
UTSW |
12 |
111,799,612 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7269:Ppp1r13b
|
UTSW |
12 |
111,801,353 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7284:Ppp1r13b
|
UTSW |
12 |
111,801,400 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7304:Ppp1r13b
|
UTSW |
12 |
111,838,840 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7314:Ppp1r13b
|
UTSW |
12 |
111,812,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7393:Ppp1r13b
|
UTSW |
12 |
111,805,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7639:Ppp1r13b
|
UTSW |
12 |
111,800,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7873:Ppp1r13b
|
UTSW |
12 |
111,801,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7994:Ppp1r13b
|
UTSW |
12 |
111,798,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8828:Ppp1r13b
|
UTSW |
12 |
111,799,981 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8885:Ppp1r13b
|
UTSW |
12 |
111,799,871 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8887:Ppp1r13b
|
UTSW |
12 |
111,803,430 (GRCm39) |
unclassified |
probably benign |
|
|
R8900:Ppp1r13b
|
UTSW |
12 |
111,838,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9005:Ppp1r13b
|
UTSW |
12 |
111,796,708 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9147:Ppp1r13b
|
UTSW |
12 |
111,800,268 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9148:Ppp1r13b
|
UTSW |
12 |
111,800,268 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9180:Ppp1r13b
|
UTSW |
12 |
111,811,416 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9497:Ppp1r13b
|
UTSW |
12 |
111,807,446 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9561:Ppp1r13b
|
UTSW |
12 |
111,810,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9746:Ppp1r13b
|
UTSW |
12 |
111,800,242 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9775:Ppp1r13b
|
UTSW |
12 |
111,803,457 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9784:Ppp1r13b
|
UTSW |
12 |
111,810,119 (GRCm39) |
missense |
probably benign |
|
|
X0010:Ppp1r13b
|
UTSW |
12 |
111,797,893 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GATAGAGCTGCGCTTCTTCAGG -3'
(R):5'- AGTAGTAGCTTCCGTGTCACC -3'
Sequencing Primer
(F):5'- CGCTTCTTCAGGGGTCG -3'
(R):5'- TAGCTTCCGTGTCACCAAGTGAG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation