Incidental Mutation 'R2134:Ppp1r13b'
| ID |
233658 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r13b
|
| Ensembl Gene |
ENSMUSG00000021285 |
| Gene Name |
protein phosphatase 1, regulatory subunit 13B |
| Synonyms |
ASPP1 |
| MMRRC Submission |
040137-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.864)
|
| Stock # |
R2134 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
111794891-111874544 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 111800167 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 537
(T537S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152424
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054815]
[ENSMUST00000220486]
[ENSMUST00000222843]
|
| AlphaFold |
Q62415 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054815
AA Change: T660S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000062464
Gene: ENSMUSG00000021285
AA Change: T660S
| 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: T537S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222843
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| 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 |
|---|
| Abca8a |
A |
T |
11: 109,921,743 (GRCm39) |
V1437E |
probably null |
Het |
| Adam12 |
G |
A |
7: 133,614,017 (GRCm39) |
R80* |
probably null |
Het |
| Adgrb3 |
G |
T |
1: 25,133,038 (GRCm39) |
F479L |
probably damaging |
Het |
| Atf7ip |
T |
A |
6: 136,582,485 (GRCm39) |
V1165E |
possibly damaging |
Het |
| Atm |
C |
T |
9: 53,379,264 (GRCm39) |
|
probably null |
Het |
| Atp11c |
A |
G |
X: 59,322,143 (GRCm39) |
Y593H |
probably damaging |
Het |
| Btnl1 |
A |
G |
17: 34,604,608 (GRCm39) |
D463G |
possibly damaging |
Het |
| Cdc34b |
T |
G |
11: 94,633,252 (GRCm39) |
W151G |
probably damaging |
Het |
| Cdkal1 |
A |
G |
13: 29,538,660 (GRCm39) |
S500P |
possibly damaging |
Het |
| Cenpf |
T |
C |
1: 189,390,839 (GRCm39) |
N998D |
probably benign |
Het |
| Ces2e |
T |
A |
8: 105,659,171 (GRCm39) |
|
probably null |
Het |
| Chd7 |
A |
G |
4: 8,753,147 (GRCm39) |
Q548R |
probably damaging |
Het |
| Chfr |
T |
A |
5: 110,292,627 (GRCm39) |
|
probably null |
Het |
| Clu |
A |
G |
14: 66,212,290 (GRCm39) |
|
probably null |
Het |
| Cntnap5c |
A |
G |
17: 58,714,717 (GRCm39) |
D1235G |
probably damaging |
Het |
| Col6a4 |
T |
C |
9: 105,943,860 (GRCm39) |
S1205G |
probably benign |
Het |
| Ddx47 |
G |
T |
6: 134,992,313 (GRCm39) |
E113* |
probably null |
Het |
| Dock4 |
A |
G |
12: 40,795,667 (GRCm39) |
Y828C |
probably benign |
Het |
| Dync1h1 |
T |
A |
12: 110,623,065 (GRCm39) |
N3553K |
possibly damaging |
Het |
| Egflam |
C |
T |
15: 7,263,760 (GRCm39) |
C730Y |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,398,298 (GRCm39) |
Y935C |
probably damaging |
Het |
| Fam83g |
A |
G |
11: 61,594,510 (GRCm39) |
I681M |
probably benign |
Het |
| Fastk |
T |
C |
5: 24,650,139 (GRCm39) |
R3G |
probably damaging |
Het |
| Fxr1 |
A |
T |
3: 34,112,196 (GRCm39) |
E367D |
probably damaging |
Het |
| Gatb |
A |
G |
3: 85,518,677 (GRCm39) |
D261G |
probably damaging |
Het |
| Gm5617 |
T |
C |
9: 48,407,117 (GRCm39) |
S84P |
possibly damaging |
Het |
| Hecw1 |
C |
T |
13: 14,552,285 (GRCm39) |
E104K |
probably damaging |
Het |
| Il31ra |
T |
C |
13: 112,680,422 (GRCm39) |
K265R |
possibly damaging |
Het |
| Khsrp |
GTCATT |
GT |
17: 57,331,410 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
A |
2: 69,341,411 (GRCm39) |
D923V |
probably damaging |
Het |
| Ltn1 |
A |
G |
16: 87,179,601 (GRCm39) |
L1520P |
probably damaging |
Het |
| Magel2 |
G |
A |
7: 62,028,844 (GRCm39) |
V583I |
unknown |
Het |
| Map1s |
T |
G |
8: 71,366,526 (GRCm39) |
V477G |
probably benign |
Het |
| Mical1 |
T |
C |
10: 41,358,708 (GRCm39) |
L542P |
probably damaging |
Het |
| Mtcl3 |
T |
A |
10: 29,072,395 (GRCm39) |
Y562* |
probably null |
Het |
| Mycbp2 |
T |
C |
14: 103,446,329 (GRCm39) |
Y1800C |
probably damaging |
Het |
| Mylk |
A |
T |
16: 34,806,846 (GRCm39) |
D1697V |
probably benign |
Het |
| Nlrp1a |
A |
T |
11: 71,015,014 (GRCm39) |
F79I |
probably benign |
Het |
| Or52d3 |
T |
C |
7: 104,228,848 (GRCm39) |
|
probably benign |
Het |
| Pde9a |
A |
G |
17: 31,605,284 (GRCm39) |
Y6C |
probably damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,934,509 (GRCm39) |
I1808N |
probably damaging |
Het |
| Ppp2r2a |
A |
G |
14: 67,253,924 (GRCm39) |
F415L |
possibly damaging |
Het |
| Rabgap1 |
C |
T |
2: 37,453,499 (GRCm39) |
R976* |
probably null |
Het |
| Rbfox3 |
T |
C |
11: 118,387,842 (GRCm39) |
H195R |
probably damaging |
Het |
| Ripk4 |
A |
T |
16: 97,544,933 (GRCm39) |
D571E |
probably damaging |
Het |
| Sdhaf4 |
T |
A |
1: 24,044,634 (GRCm39) |
R16S |
probably benign |
Het |
| Slc17a1 |
G |
T |
13: 24,059,658 (GRCm39) |
G130* |
probably null |
Het |
| Slc6a1 |
G |
T |
6: 114,278,977 (GRCm39) |
A23S |
probably benign |
Het |
| Slco1a8 |
T |
C |
6: 141,926,704 (GRCm39) |
I541V |
probably damaging |
Het |
| Spock1 |
T |
A |
13: 57,583,952 (GRCm39) |
Q321L |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 75,999,560 (GRCm39) |
I2318V |
probably damaging |
Het |
| Terf2ip |
T |
C |
8: 112,738,271 (GRCm39) |
V53A |
possibly damaging |
Het |
| Thrb |
T |
C |
14: 18,033,487 (GRCm38) |
F403L |
probably benign |
Het |
| Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
| Uqcrfs1 |
T |
C |
13: 30,724,787 (GRCm39) |
K251R |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,792,085 (GRCm39) |
E57G |
possibly damaging |
Het |
| Vmn2r114 |
T |
A |
17: 23,510,737 (GRCm39) |
Y581F |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,874,909 (GRCm39) |
V1866A |
probably benign |
Het |
| Washc5 |
A |
T |
15: 59,241,083 (GRCm39) |
F84Y |
probably damaging |
Het |
| Yars1 |
T |
A |
4: 129,090,992 (GRCm39) |
Y28* |
probably null |
Het |
| Zfp638 |
A |
G |
6: 83,905,964 (GRCm39) |
Y43C |
probably damaging |
Het |
| Zfp750 |
T |
A |
11: 121,404,758 (GRCm39) |
H39L |
probably damaging |
Het |
| Zfr2 |
C |
A |
10: 81,078,735 (GRCm39) |
S322R |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,771,450 (GRCm39) |
D1644G |
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 |
|
|
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 |
|
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'- GCCAAGGTGTTGAAACGTTG -3'
(R):5'- AGGGTGACATTGTTCTGTCC -3'
Sequencing Primer
(F):5'- AAGCAACTTTTGAATGTTGGGCC -3'
(R):5'- CTGTTTCTCCTCAGTGTACGGTAAG -3'
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| Posted On |
2014-10-01 |
Incidental Mutation