Incidental Mutation 'R9561:Ppp1r13b'
| ID |
721026 |
| 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: 0.838)
|
| Stock # |
R9561 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
111794891-111874544 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 111810077 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 244
(D244N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062464
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054815]
[ENSMUST00000220486]
|
| AlphaFold |
Q62415 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054815
AA Change: D244N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062464
Gene: ENSMUSG00000021285
AA Change: D244N
| 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: D86N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
G |
16: 4,680,980 (GRCm39) |
I106V |
possibly damaging |
Het |
| Aars1 |
C |
A |
8: 111,763,615 (GRCm39) |
F18L |
probably damaging |
Het |
| Abca7 |
C |
T |
10: 79,837,535 (GRCm39) |
T473I |
probably damaging |
Het |
| Ap1m2 |
A |
T |
9: 21,209,524 (GRCm39) |
I384N |
probably damaging |
Het |
| Atg16l2 |
G |
A |
7: 100,948,248 (GRCm39) |
Q99* |
probably null |
Het |
| Bptf |
A |
T |
11: 106,964,954 (GRCm39) |
Y1413* |
probably null |
Het |
| Cat |
T |
C |
2: 103,307,250 (GRCm39) |
T28A |
probably damaging |
Het |
| Ccdc65 |
T |
A |
15: 98,620,759 (GRCm39) |
V418D |
probably benign |
Het |
| Cd226 |
A |
C |
18: 89,265,444 (GRCm39) |
I241L |
probably benign |
Het |
| Crybg1 |
A |
G |
10: 43,873,428 (GRCm39) |
S1227P |
probably benign |
Het |
| Csn2 |
C |
T |
5: 87,842,794 (GRCm39) |
A78T |
probably benign |
Het |
| Cyp21a1 |
T |
A |
17: 35,021,652 (GRCm39) |
H305L |
possibly damaging |
Het |
| Ddx55 |
A |
G |
5: 124,706,707 (GRCm39) |
E572G |
possibly damaging |
Het |
| Dguok |
A |
G |
6: 83,467,548 (GRCm39) |
Y100H |
probably damaging |
Het |
| Dync1h1 |
T |
A |
12: 110,615,533 (GRCm39) |
S2955R |
probably damaging |
Het |
| Etfbkmt |
A |
T |
6: 149,045,640 (GRCm39) |
|
probably benign |
Het |
| Fam222a |
T |
A |
5: 114,749,347 (GRCm39) |
I181N |
probably damaging |
Het |
| Fam24b |
T |
C |
7: 130,927,877 (GRCm39) |
D104G |
probably benign |
Het |
| Fbn2 |
A |
T |
18: 58,181,611 (GRCm39) |
C1883* |
probably null |
Het |
| Fchsd2 |
T |
G |
7: 100,920,778 (GRCm39) |
L461R |
probably benign |
Het |
| Hdgfl1 |
C |
T |
13: 26,953,239 (GRCm39) |
G278E |
probably damaging |
Het |
| Hectd4 |
G |
A |
5: 121,472,532 (GRCm39) |
R2756Q |
possibly damaging |
Het |
| Ints14 |
A |
G |
9: 64,882,932 (GRCm39) |
D261G |
probably damaging |
Het |
| Mapkapk5 |
C |
T |
5: 121,672,490 (GRCm39) |
A163T |
probably benign |
Het |
| Micu3 |
A |
T |
8: 40,835,156 (GRCm39) |
K504* |
probably null |
Het |
| Myh1 |
C |
G |
11: 67,108,618 (GRCm39) |
H1345D |
possibly damaging |
Het |
| Myh7 |
C |
A |
14: 55,216,146 (GRCm39) |
R1289L |
probably damaging |
Het |
| Neb |
G |
T |
2: 52,132,068 (GRCm39) |
H280Q |
|
Het |
| Nrbp1 |
T |
A |
5: 31,404,771 (GRCm39) |
|
probably null |
Het |
| Oacyl |
T |
A |
18: 65,831,414 (GRCm39) |
V17D |
possibly damaging |
Het |
| Obsl1 |
C |
A |
1: 75,480,157 (GRCm39) |
R463L |
possibly damaging |
Het |
| Or1f19 |
T |
A |
16: 3,410,725 (GRCm39) |
L155Q |
probably damaging |
Het |
| Or8b40 |
G |
A |
9: 38,028,010 (GRCm39) |
S311N |
probably benign |
Het |
| Pcnt |
A |
T |
10: 76,217,128 (GRCm39) |
C2184* |
probably null |
Het |
| Pfpl |
G |
C |
19: 12,406,297 (GRCm39) |
E183Q |
probably damaging |
Het |
| Phrf1 |
T |
G |
7: 140,834,815 (GRCm39) |
S198A |
unknown |
Het |
| Plekhg2 |
C |
G |
7: 28,064,249 (GRCm39) |
A431P |
probably damaging |
Het |
| Raph1 |
T |
C |
1: 60,564,887 (GRCm39) |
E200G |
possibly damaging |
Het |
| Rnf6 |
A |
G |
5: 146,147,936 (GRCm39) |
S361P |
probably benign |
Het |
| Scgb2b19 |
G |
A |
7: 32,978,039 (GRCm39) |
A86V |
probably benign |
Het |
| Sec23b |
T |
A |
2: 144,408,728 (GRCm39) |
C138S |
possibly damaging |
Het |
| Slco1c1 |
T |
C |
6: 141,505,606 (GRCm39) |
S511P |
possibly damaging |
Het |
| Tas2r130 |
A |
G |
6: 131,607,175 (GRCm39) |
S207P |
probably damaging |
Het |
| Tdpoz1 |
A |
T |
3: 93,578,540 (GRCm39) |
H81Q |
probably benign |
Het |
| Usp8 |
A |
G |
2: 126,578,414 (GRCm39) |
K289E |
probably damaging |
Het |
| Vmn1r18 |
A |
C |
6: 57,367,202 (GRCm39) |
N117K |
probably benign |
Het |
| Vps13c |
G |
T |
9: 67,872,794 (GRCm39) |
G3270V |
probably damaging |
Het |
| Wdr20 |
A |
G |
12: 110,760,187 (GRCm39) |
T358A |
probably benign |
Het |
| Wwc1 |
A |
C |
11: 35,870,796 (GRCm39) |
|
probably null |
Het |
| Yars2 |
G |
T |
16: 16,127,242 (GRCm39) |
V436L |
possibly damaging |
Het |
| Zfp609 |
G |
A |
9: 65,604,512 (GRCm39) |
Q1324* |
probably null |
Het |
| Zfp81 |
T |
C |
17: 33,553,774 (GRCm39) |
T347A |
probably benign |
Het |
| Zgpat |
T |
C |
2: 181,021,366 (GRCm39) |
V292A |
probably benign |
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 |
|
R9483:Ppp1r13b
|
UTSW |
12 |
111,800,210 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9497:Ppp1r13b
|
UTSW |
12 |
111,807,446 (GRCm39) |
missense |
probably benign |
0.09 |
|
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'- TCTGTTTCCAGGCTCTGAATAC -3'
(R):5'- GCATACTCTTTAATCCAAGGCTAGC -3'
Sequencing Primer
(F):5'- AGGCTCTGAATACCCCTGAC -3'
(R):5'- TCCAAGGCTAGCATAAATAGTACCAG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation