Incidental Mutation 'R8828:Ppp1r13b'
ID |
673629 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp1r13b
|
Ensembl Gene |
ENSMUSG00000021285 |
Gene Name |
protein phosphatase 1, regulatory subunit 13B |
Synonyms |
ASPP1 |
MMRRC Submission |
068730-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.838)
|
Stock # |
R8828 (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 C
at 111799981 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 722
(K722E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062464
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054815]
[ENSMUST00000220486]
[ENSMUST00000222843]
|
AlphaFold |
Q62415 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000054815
AA Change: K722E
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000062464 Gene: ENSMUSG00000021285 AA Change: K722E
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222843
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
A |
T |
16: 56,507,455 (GRCm39) |
Y1091F |
probably damaging |
Het |
Arl8b |
A |
G |
6: 108,792,250 (GRCm39) |
I104V |
probably benign |
Het |
Asb2 |
C |
A |
12: 103,304,457 (GRCm39) |
G16C |
probably benign |
Het |
Bptf |
T |
C |
11: 106,945,836 (GRCm39) |
S2468G |
probably damaging |
Het |
Capns1 |
T |
A |
7: 29,889,963 (GRCm39) |
D182V |
probably damaging |
Het |
Cct5 |
T |
C |
15: 31,594,658 (GRCm39) |
H182R |
possibly damaging |
Het |
Cd200 |
G |
A |
16: 45,215,157 (GRCm39) |
R165C |
probably benign |
Het |
Chd3 |
C |
T |
11: 69,247,097 (GRCm39) |
V1024I |
probably damaging |
Het |
Chd8 |
CAGGGTCTGCCCTCATGGTATTGTATTTCTCATAGCCTAAAAGAACAAGGG |
C |
14: 52,448,037 (GRCm39) |
|
probably null |
Het |
Csmd1 |
T |
C |
8: 16,048,794 (GRCm39) |
S2303G |
probably benign |
Het |
Ctsl |
A |
G |
13: 64,514,314 (GRCm39) |
S255P |
probably damaging |
Het |
Dclre1c |
T |
G |
2: 3,444,714 (GRCm39) |
N268K |
possibly damaging |
Het |
Dock10 |
T |
C |
1: 80,521,134 (GRCm39) |
D1158G |
probably damaging |
Het |
Dock6 |
A |
T |
9: 21,757,797 (GRCm39) |
D102E |
probably benign |
Het |
Dvl3 |
T |
A |
16: 20,344,495 (GRCm39) |
D290E |
probably damaging |
Het |
Fam72a |
T |
A |
1: 131,458,461 (GRCm39) |
C74* |
probably null |
Het |
Gnrh1 |
T |
A |
14: 67,985,334 (GRCm39) |
L73Q |
probably damaging |
Het |
Grina |
T |
A |
15: 76,132,497 (GRCm39) |
S115T |
probably damaging |
Het |
Grm3 |
A |
T |
5: 9,554,725 (GRCm39) |
S856T |
probably benign |
Het |
Hars1 |
C |
A |
18: 36,899,996 (GRCm39) |
R490L |
possibly damaging |
Het |
Ide |
T |
A |
19: 37,292,241 (GRCm39) |
K318I |
|
Het |
Immt |
C |
A |
6: 71,829,762 (GRCm39) |
S156* |
probably null |
Het |
Iqcd |
A |
G |
5: 120,738,232 (GRCm39) |
I17V |
possibly damaging |
Het |
Klhdc1 |
T |
C |
12: 69,298,808 (GRCm39) |
V131A |
probably damaging |
Het |
Klk6 |
C |
A |
7: 43,478,061 (GRCm39) |
N144K |
|
Het |
Klk6 |
T |
C |
7: 43,478,062 (GRCm39) |
C145R |
probably damaging |
Het |
Lrfn2 |
A |
T |
17: 49,404,132 (GRCm39) |
T752S |
probably damaging |
Het |
Lrguk |
A |
C |
6: 34,080,572 (GRCm39) |
Q1269P |
unknown |
Het |
Lrwd1 |
G |
T |
5: 136,164,787 (GRCm39) |
Q7K |
probably benign |
Het |
Macf1 |
A |
T |
4: 123,302,204 (GRCm39) |
M766K |
probably benign |
Het |
Myo3a |
A |
T |
2: 22,245,864 (GRCm39) |
T4S |
probably benign |
Het |
Neb |
T |
C |
2: 52,084,438 (GRCm39) |
Y5587C |
probably damaging |
Het |
Nf1 |
A |
T |
11: 79,286,679 (GRCm39) |
|
probably null |
Het |
Npepps |
G |
T |
11: 97,131,823 (GRCm39) |
R344S |
probably damaging |
Het |
Nudt16l2 |
C |
T |
9: 105,021,648 (GRCm39) |
D133N |
probably damaging |
Het |
Or52p1 |
A |
T |
7: 104,267,486 (GRCm39) |
Y200F |
probably damaging |
Het |
Or5v1b |
A |
G |
17: 37,841,333 (GRCm39) |
N155S |
probably damaging |
Het |
Pcnx1 |
T |
A |
12: 82,042,597 (GRCm39) |
W2286R |
probably damaging |
Het |
Ppm1g |
A |
T |
5: 31,365,768 (GRCm39) |
N51K |
probably benign |
Het |
Prim1 |
A |
G |
10: 127,859,761 (GRCm39) |
S318G |
probably damaging |
Het |
Prl4a1 |
T |
C |
13: 28,207,307 (GRCm39) |
Y194H |
probably damaging |
Het |
Prl7c1 |
A |
T |
13: 27,957,854 (GRCm39) |
D195E |
probably benign |
Het |
Psmb2 |
A |
G |
4: 126,603,330 (GRCm39) |
D186G |
probably benign |
Het |
Ptprq |
A |
G |
10: 107,482,513 (GRCm39) |
V1020A |
probably benign |
Het |
Scgb2b20 |
T |
C |
7: 33,065,689 (GRCm39) |
T13A |
unknown |
Het |
Scly |
C |
A |
1: 91,244,830 (GRCm39) |
H310Q |
possibly damaging |
Het |
Sdccag8 |
G |
A |
1: 176,783,473 (GRCm39) |
E661K |
probably damaging |
Het |
Sema4f |
G |
A |
6: 82,894,873 (GRCm39) |
L441F |
probably benign |
Het |
Sema4f |
A |
C |
6: 82,894,874 (GRCm39) |
Y440* |
probably null |
Het |
Tmem262 |
C |
T |
19: 6,130,118 (GRCm39) |
|
probably benign |
Het |
Trim33 |
A |
G |
3: 103,236,392 (GRCm39) |
T501A |
probably damaging |
Het |
Trio |
C |
A |
15: 27,741,150 (GRCm39) |
V2692F |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,772,774 (GRCm39) |
V2453E |
unknown |
Het |
Ttn |
G |
T |
2: 76,541,956 (GRCm39) |
R33677S |
probably benign |
Het |
Uaca |
T |
A |
9: 60,778,852 (GRCm39) |
S1080T |
probably benign |
Het |
Vav3 |
T |
A |
3: 109,555,051 (GRCm39) |
C660S |
probably benign |
Het |
Vmn1r229 |
T |
A |
17: 21,034,990 (GRCm39) |
D78E |
probably damaging |
Het |
Vmn2r73 |
A |
G |
7: 85,521,179 (GRCm39) |
V263A |
probably damaging |
Het |
Yeats2 |
A |
T |
16: 19,969,260 (GRCm39) |
D17V |
probably benign |
Het |
Zfp658 |
T |
A |
7: 43,222,240 (GRCm39) |
W172R |
probably benign |
Het |
Zfp804a |
A |
C |
2: 82,089,459 (GRCm39) |
H1096P |
possibly damaging |
Het |
Zkscan14 |
C |
T |
5: 145,138,375 (GRCm39) |
W37* |
probably null |
Het |
Zmynd15 |
A |
T |
11: 70,355,017 (GRCm39) |
D468V |
probably damaging |
Het |
Zmynd8 |
A |
T |
2: 165,654,466 (GRCm39) |
V682E |
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 |
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'- TCATTGGCATCTGAGGAAGG -3'
(R):5'- CTCTGCTGAGAAAGAGCCAG -3'
Sequencing Primer
(F):5'- GCAAGCTCCTCAGGAAGTG -3'
(R):5'- CAGCACAGTGGAAAGCCTGC -3'
|
Posted On |
2021-07-15 |