Incidental Mutation 'R6511:Ppp1r13b'
| ID |
519927 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r13b
|
| Ensembl Gene |
ENSMUSG00000021285 |
| Gene Name |
protein phosphatase 1, regulatory subunit 13B |
| Synonyms |
ASPP1 |
| MMRRC Submission |
044639-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.864)
|
| Stock # |
R6511 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
111794891-111874544 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 111798001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 972
(E972G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062464
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021714]
[ENSMUST00000054815]
[ENSMUST00000220486]
[ENSMUST00000221375]
[ENSMUST00000222843]
|
| AlphaFold |
Q62415 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021714
|
| SMART Domains |
Protein: ENSMUSP00000021714
Gene: ENSMUSG00000021286
| Domain | Start | End | E-Value | Type |
|---|
|
FYVE
|
36 |
105 |
7.11e-16 |
SMART |
|
Pfam:ZFYVE21_C
|
108 |
233 |
1.1e-56 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054815
AA Change: E972G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062464
Gene: ENSMUSG00000021285
AA Change: E972G
| 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 benign
Transcript: ENSMUST00000220486
AA Change: E849G
PolyPhen 2
Score 0.327 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221375
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222843
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223211
|
| Meta Mutation Damage Score |
0.2902 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
| Validation Efficiency |
100% (39/39) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
G |
A |
16: 20,195,344 (GRCm39) |
H718Y |
probably damaging |
Het |
| Abcc8 |
G |
A |
7: 45,800,285 (GRCm39) |
T499I |
possibly damaging |
Het |
| Azin2 |
C |
A |
4: 128,828,259 (GRCm39) |
R316L |
probably damaging |
Het |
| Cep85l |
C |
T |
10: 53,154,188 (GRCm39) |
V702I |
probably benign |
Het |
| Cfap69 |
A |
T |
5: 5,667,220 (GRCm39) |
C442S |
probably damaging |
Het |
| Commd3 |
G |
A |
2: 18,679,650 (GRCm39) |
G148R |
probably benign |
Het |
| Cyfip2 |
T |
C |
11: 46,087,135 (GRCm39) |
T1252A |
probably benign |
Het |
| Cyp4a30b |
A |
T |
4: 115,313,905 (GRCm39) |
D162V |
probably damaging |
Het |
| Exoc3l |
G |
T |
8: 106,019,887 (GRCm39) |
T346K |
probably benign |
Het |
| Gas8 |
T |
C |
8: 124,250,896 (GRCm39) |
V123A |
probably benign |
Het |
| Hmcn2 |
T |
G |
2: 31,246,354 (GRCm39) |
D774E |
possibly damaging |
Het |
| Itga1 |
G |
T |
13: 115,129,037 (GRCm39) |
S540R |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,231,225 (GRCm39) |
N1145S |
probably damaging |
Het |
| Kcnc2 |
C |
T |
10: 112,297,972 (GRCm39) |
|
probably benign |
Het |
| Lrp5 |
G |
A |
19: 3,702,296 (GRCm39) |
R174W |
probably damaging |
Het |
| Lrrn4 |
T |
G |
2: 132,712,246 (GRCm39) |
S526R |
probably benign |
Het |
| Map3k6 |
G |
A |
4: 132,975,389 (GRCm39) |
R708H |
probably damaging |
Het |
| Mefv |
T |
C |
16: 3,533,810 (GRCm39) |
T154A |
probably benign |
Het |
| Mrtfb |
T |
A |
16: 13,197,714 (GRCm39) |
S66R |
probably damaging |
Het |
| Mtif2 |
G |
T |
11: 29,486,949 (GRCm39) |
A320S |
possibly damaging |
Het |
| Nos2 |
A |
G |
11: 78,846,290 (GRCm39) |
|
probably null |
Het |
| Or4k15b |
A |
G |
14: 50,272,266 (GRCm39) |
L198P |
probably damaging |
Het |
| Or9g4 |
A |
G |
2: 85,505,184 (GRCm39) |
S104P |
possibly damaging |
Het |
| Pip5k1c |
T |
C |
10: 81,146,651 (GRCm39) |
Y44H |
probably damaging |
Het |
| Prdm12 |
T |
C |
2: 31,530,321 (GRCm39) |
S71P |
probably damaging |
Het |
| Prkag2 |
G |
T |
5: 25,305,286 (GRCm39) |
|
probably benign |
Het |
| Ptprb |
T |
C |
10: 116,182,725 (GRCm39) |
L1467P |
probably damaging |
Het |
| Rnf43 |
G |
A |
11: 87,622,989 (GRCm39) |
V697I |
probably benign |
Het |
| Rpl7 |
C |
A |
1: 16,173,889 (GRCm39) |
A12S |
probably benign |
Het |
| Slc25a54 |
T |
G |
3: 109,001,572 (GRCm39) |
I120S |
possibly damaging |
Het |
| Slc41a2 |
T |
C |
10: 83,119,652 (GRCm39) |
H370R |
probably damaging |
Het |
| Speer1d |
A |
G |
5: 11,307,275 (GRCm39) |
Y51C |
probably benign |
Het |
| Sv2c |
C |
T |
13: 96,185,033 (GRCm39) |
V215I |
probably benign |
Het |
| Synpo2l |
T |
C |
14: 20,712,518 (GRCm39) |
E34G |
probably damaging |
Het |
| Tubgcp5 |
T |
A |
7: 55,467,140 (GRCm39) |
C703* |
probably null |
Het |
| Vmn1r158 |
T |
C |
7: 22,490,116 (GRCm39) |
K31R |
probably benign |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Zfp2 |
A |
T |
11: 50,791,234 (GRCm39) |
C270S |
probably 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 |
|
|
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 |
|
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'- AGGACACAGTGCTGATGAGC -3'
(R):5'- AAGCCTTAGTAGCACTGCAATTG -3'
Sequencing Primer
(F):5'- CAGTGCTGATGAGCCAGGG -3'
(R):5'- CCTATCAGTGACTTGATGTGCCAAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation