Incidental Mutation 'IGL01621:Ppp1r13b'
ID 92609
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp1r13b
Ensembl Gene ENSMUSG00000021285
Gene Name protein phosphatase 1, regulatory subunit 13B
Synonyms ASPP1
Accession Numbers
Essential gene? Probably essential (E-score: 0.838) question?
Stock # IGL01621
Quality Score
Status
Chromosome 12
Chromosomal Location 111794891-111874544 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 111801526 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 386 (Q386L)
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: Q509L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000062464
Gene: ENSMUSG00000021285
AA Change: Q509L

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000220486
AA Change: Q386L

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000222843
Coding Region Coverage
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C T 5: 64,055,726 (GRCm39) T154I possibly damaging Het
4933434E20Rik T A 3: 89,971,809 (GRCm39) M56K possibly damaging Het
Abca6 A G 11: 110,075,534 (GRCm39) L1319S probably damaging Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Aloxe3 A G 11: 69,020,839 (GRCm39) N188S probably benign Het
Ap1s1 G A 5: 137,070,658 (GRCm39) R119* probably null Het
Apc2 T G 10: 80,142,035 (GRCm39) L318R probably damaging Het
Atg101 A G 15: 101,184,976 (GRCm39) S33G possibly damaging Het
Atp8a2 A T 14: 60,253,317 (GRCm39) probably benign Het
Bpifb9b C A 2: 154,158,871 (GRCm39) probably null Het
Braf A T 6: 39,623,787 (GRCm39) probably benign Het
Cabp5 A G 7: 13,135,189 (GRCm39) D43G probably damaging Het
Cfap46 T C 7: 139,186,523 (GRCm39) N2462S unknown Het
Cit C T 5: 116,130,662 (GRCm39) probably benign Het
Cpa4 T C 6: 30,574,415 (GRCm39) V68A probably damaging Het
Cyp2j5 T C 4: 96,517,791 (GRCm39) I474V probably benign Het
Dennd1a C A 2: 37,734,821 (GRCm39) D49Y probably damaging Het
Dlg5 T C 14: 24,198,289 (GRCm39) D1525G probably damaging Het
Dnajc18 C T 18: 35,813,893 (GRCm39) R292H probably benign Het
Dync2h1 A G 9: 7,140,897 (GRCm39) probably null Het
E2f6 A G 12: 16,875,369 (GRCm39) D268G probably benign Het
Evi2b T A 11: 79,407,126 (GRCm39) T150S probably damaging Het
F13b A G 1: 139,431,589 (GRCm39) D53G probably benign Het
Fbxo38 G A 18: 62,655,595 (GRCm39) probably benign Het
Flnb C T 14: 7,950,470 (GRCm38) P2596L probably damaging Het
Fyco1 A G 9: 123,656,247 (GRCm39) probably benign Het
Gm21759 A G 5: 8,229,775 (GRCm39) probably benign Het
Gtse1 A G 15: 85,759,283 (GRCm39) N597S probably benign Het
Hcn3 G T 3: 89,055,030 (GRCm39) S739Y probably damaging Het
Ighv9-4 T A 12: 114,263,612 (GRCm39) N107I probably damaging Het
Inava C A 1: 136,147,513 (GRCm39) A402S probably damaging Het
Iqub T C 6: 24,446,211 (GRCm39) K738E probably benign Het
Itga6 A T 2: 71,656,000 (GRCm39) D308V probably benign Het
Klf12 T C 14: 100,260,585 (GRCm39) Y48C probably damaging Het
Klhdc9 A G 1: 171,186,384 (GRCm39) *351Q probably null Het
Krt40 A T 11: 99,433,694 (GRCm39) N97K probably damaging Het
Lrit1 A C 14: 36,782,112 (GRCm39) T262P probably damaging Het
Mcoln1 T C 8: 3,560,910 (GRCm39) Y411H probably damaging Het
Mfsd4a A G 1: 131,981,881 (GRCm39) S149P probably benign Het
Minar2 A G 18: 59,195,458 (GRCm39) M1V probably null Het
Mipep A G 14: 61,033,614 (GRCm39) probably benign Het
Mslnl A G 17: 25,962,641 (GRCm39) probably benign Het
N4bp2 A T 5: 65,948,267 (GRCm39) H299L probably damaging Het
Nbn C T 4: 15,965,221 (GRCm39) P190S probably benign Het
Nos1 T A 5: 118,083,949 (GRCm39) I1253N probably damaging Het
Nup210 G T 6: 91,007,099 (GRCm39) F572L probably damaging Het
Or10k2 T C 8: 84,268,247 (GRCm39) V158A probably benign Het
Or1e30 T C 11: 73,678,103 (GRCm39) F113S probably damaging Het
Or2y11 T C 11: 49,442,964 (GRCm39) L130P probably damaging Het
P4htm T A 9: 108,460,935 (GRCm39) E106V probably damaging Het
Pcdhb20 C T 18: 37,637,860 (GRCm39) H129Y possibly damaging Het
Pdcd6ip T C 9: 113,514,490 (GRCm39) E240G probably benign Het
Pex5l T C 3: 33,069,110 (GRCm39) probably null Het
Plcd1 T C 9: 118,905,246 (GRCm39) N181S probably damaging Het
Plekhg6 G T 6: 125,349,062 (GRCm39) L412M probably damaging Het
Pramel25 T C 4: 143,520,502 (GRCm39) F85L probably benign Het
Prpf40b A G 15: 99,207,926 (GRCm39) probably benign Het
Rdh11 C T 12: 79,233,187 (GRCm39) probably null Het
Ripor3 A T 2: 167,839,172 (GRCm39) S110T probably damaging Het
Sec24d G A 3: 123,087,807 (GRCm39) probably null Het
Secisbp2l T C 2: 125,615,131 (GRCm39) S165G probably benign Het
Shank1 C T 7: 43,991,889 (GRCm39) A698V unknown Het
Shank1 T C 7: 44,001,023 (GRCm39) M914T unknown Het
Slc22a3 T C 17: 12,677,379 (GRCm39) Q263R probably benign Het
Smc1a C A X: 150,819,125 (GRCm39) Q647K probably damaging Het
Sohlh1 A G 2: 25,736,873 (GRCm39) probably benign Het
Tacc2 C A 7: 130,331,498 (GRCm39) T484K probably damaging Het
Ubr4 G T 4: 139,168,094 (GRCm39) E2825* probably null Het
Wbp2nl G A 15: 82,192,806 (GRCm39) M163I probably benign Het
Zfp69 T A 4: 120,788,697 (GRCm39) K206M probably damaging Het
Zswim3 G A 2: 164,663,440 (GRCm39) R640H probably damaging Het
Other mutations in Ppp1r13b
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2013-12-09