Incidental Mutation 'R7304:Ppp1r13b'
| ID |
567185 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r13b
|
| Ensembl Gene |
ENSMUSG00000021285 |
| Gene Name |
protein phosphatase 1, regulatory subunit 13B |
| Synonyms |
ASPP1 |
| MMRRC Submission |
045365-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.838)
|
| Stock # |
R7304 (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 111838840 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 13
(N13D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062464
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054815]
|
| AlphaFold |
Q62415 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054815
AA Change: N13D
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000062464
Gene: ENSMUSG00000021285
AA Change: N13D
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (66/66) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,247,203 (GRCm39) |
S2317G |
probably benign |
Het |
| Acap2 |
A |
C |
16: 30,926,934 (GRCm39) |
L502R |
probably benign |
Het |
| Amotl2 |
A |
G |
9: 102,605,549 (GRCm39) |
E467G |
probably damaging |
Het |
| Apbb1ip |
A |
T |
2: 22,743,147 (GRCm39) |
|
probably null |
Het |
| Armc9 |
C |
G |
1: 86,090,437 (GRCm39) |
D77E |
probably benign |
Het |
| Art1 |
T |
A |
7: 101,755,531 (GRCm39) |
S8T |
possibly damaging |
Het |
| Asic5 |
G |
A |
3: 81,916,872 (GRCm39) |
A321T |
possibly damaging |
Het |
| Astn2 |
A |
G |
4: 66,103,612 (GRCm39) |
I267T |
unknown |
Het |
| Bmp8a |
T |
C |
4: 123,236,182 (GRCm39) |
N107S |
probably benign |
Het |
| Card14 |
T |
A |
11: 119,228,573 (GRCm39) |
L633Q |
probably damaging |
Het |
| Chpf |
C |
T |
1: 75,455,698 (GRCm39) |
V18M |
possibly damaging |
Het |
| Cog7 |
T |
C |
7: 121,536,362 (GRCm39) |
I493V |
probably benign |
Het |
| Col3a1 |
A |
T |
1: 45,386,971 (GRCm39) |
N1394I |
unknown |
Het |
| Crybg1 |
C |
T |
10: 43,873,254 (GRCm39) |
D1285N |
probably benign |
Het |
| Depdc7 |
A |
G |
2: 104,553,463 (GRCm39) |
V395A |
possibly damaging |
Het |
| Dido1 |
G |
A |
2: 180,329,286 (GRCm39) |
L379F |
probably damaging |
Het |
| Dnajc13 |
G |
T |
9: 104,115,713 (GRCm39) |
T32N |
probably benign |
Het |
| Dok2 |
T |
A |
14: 71,013,468 (GRCm39) |
S133R |
probably benign |
Het |
| Ehbp1l1 |
C |
T |
19: 5,766,410 (GRCm39) |
R1311H |
probably damaging |
Het |
| Gm3099 |
A |
T |
14: 15,346,488 (GRCm39) |
N118I |
probably damaging |
Het |
| Gtse1 |
A |
G |
15: 85,755,748 (GRCm39) |
T471A |
probably benign |
Het |
| Heg1 |
G |
A |
16: 33,581,160 (GRCm39) |
A13T |
possibly damaging |
Het |
| Ifi209 |
A |
T |
1: 173,470,156 (GRCm39) |
Y248F |
possibly damaging |
Het |
| Irag1 |
T |
C |
7: 110,498,931 (GRCm39) |
T367A |
possibly damaging |
Het |
| Itgb3bp |
C |
G |
4: 99,657,758 (GRCm39) |
E169Q |
probably damaging |
Het |
| Kcna2 |
A |
G |
3: 107,012,066 (GRCm39) |
T216A |
probably benign |
Het |
| Kcnj6 |
A |
T |
16: 94,742,042 (GRCm39) |
M10K |
probably benign |
Het |
| Krt17 |
T |
G |
11: 100,148,163 (GRCm39) |
Q397P |
probably benign |
Het |
| Lrtm1 |
T |
A |
14: 28,744,075 (GRCm39) |
M181K |
probably damaging |
Het |
| Map3k5 |
A |
G |
10: 19,975,301 (GRCm39) |
H741R |
probably damaging |
Het |
| Mier1 |
T |
A |
4: 102,996,599 (GRCm39) |
Y120* |
probably null |
Het |
| Myh14 |
T |
A |
7: 44,279,415 (GRCm39) |
T922S |
probably benign |
Het |
| Nfkbie |
A |
T |
17: 45,871,067 (GRCm39) |
I240F |
possibly damaging |
Het |
| Npas3 |
C |
A |
12: 54,115,824 (GRCm39) |
H915Q |
probably damaging |
Het |
| Nrg2 |
A |
T |
18: 36,178,994 (GRCm39) |
V314E |
probably benign |
Het |
| Or2z9 |
T |
A |
8: 72,854,190 (GRCm39) |
Y195* |
probably null |
Het |
| Pds5a |
T |
C |
5: 65,777,077 (GRCm39) |
N28S |
probably damaging |
Het |
| Pira1 |
T |
C |
7: 3,740,493 (GRCm39) |
T243A |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,361,878 (GRCm39) |
N517I |
possibly damaging |
Het |
| Plekhb1 |
T |
C |
7: 100,294,874 (GRCm39) |
Y99C |
probably benign |
Het |
| Plpp6 |
T |
C |
19: 28,941,617 (GRCm39) |
S73P |
probably benign |
Het |
| Polb |
T |
C |
8: 23,129,975 (GRCm39) |
N199S |
probably benign |
Het |
| Prorp |
A |
G |
12: 55,351,429 (GRCm39) |
D246G |
probably damaging |
Het |
| Ptprn2 |
T |
A |
12: 117,212,164 (GRCm39) |
V862D |
probably damaging |
Het |
| Rassf4 |
T |
C |
6: 116,617,278 (GRCm39) |
I242M |
probably damaging |
Het |
| Rnf19a |
G |
A |
15: 36,254,598 (GRCm39) |
T320I |
probably damaging |
Het |
| Sctr |
A |
T |
1: 119,949,970 (GRCm39) |
E53V |
probably damaging |
Het |
| Srcin1 |
T |
C |
11: 97,442,519 (GRCm39) |
D103G |
probably benign |
Het |
| St3gal3 |
T |
C |
4: 117,814,633 (GRCm39) |
Q220R |
|
Het |
| Stk40 |
G |
A |
4: 126,019,483 (GRCm39) |
E86K |
probably benign |
Het |
| Tas2r104 |
T |
A |
6: 131,662,005 (GRCm39) |
I235F |
possibly damaging |
Het |
| Terf2ip |
T |
C |
8: 112,738,280 (GRCm39) |
V56A |
possibly damaging |
Het |
| Thsd7b |
A |
G |
1: 130,030,890 (GRCm39) |
N1075S |
probably benign |
Het |
| Trak1 |
A |
G |
9: 121,245,278 (GRCm39) |
Y51C |
probably benign |
Het |
| Trav16n |
T |
A |
14: 53,588,859 (GRCm39) |
V45E |
probably benign |
Het |
| Ttc6 |
T |
C |
12: 57,622,837 (GRCm39) |
S79P |
probably damaging |
Het |
| Unc79 |
C |
T |
12: 103,029,449 (GRCm39) |
T484M |
probably damaging |
Het |
| Usp49 |
T |
C |
17: 47,983,796 (GRCm39) |
V267A |
possibly damaging |
Het |
| Vldlr |
T |
A |
19: 27,216,004 (GRCm39) |
D305E |
possibly damaging |
Het |
| Vmn1r226 |
G |
T |
17: 20,908,011 (GRCm39) |
C81F |
probably damaging |
Het |
| Vmn1r73 |
T |
C |
7: 11,490,824 (GRCm39) |
V214A |
probably damaging |
Het |
| Vmn2r5 |
T |
C |
3: 64,411,671 (GRCm39) |
N299S |
probably damaging |
Het |
| Vwa3b |
T |
C |
1: 37,203,586 (GRCm39) |
L55S |
probably damaging |
Het |
| Wdr90 |
T |
C |
17: 26,070,480 (GRCm39) |
D1105G |
probably benign |
Het |
| Zbtb38 |
A |
G |
9: 96,569,480 (GRCm39) |
S535P |
probably damaging |
Het |
| Zfp329 |
T |
C |
7: 12,544,826 (GRCm39) |
I233V |
probably damaging |
Het |
| Zfp579 |
T |
A |
7: 4,997,582 (GRCm39) |
T110S |
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 |
|
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'- CAATTGAGCACACTGAGCTG -3'
(R):5'- ACAGTTGTGTTTGCTAGCATAC -3'
Sequencing Primer
(F):5'- GCACACTGAGCTGTATGTGATCAC -3'
(R):5'- GAGGACTCTAAATTGTGGTC -3'
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| Posted On |
2019-06-26 |
Incidental Mutation