Incidental Mutation 'IGL02187:Ppp1r13b'
ID 283703
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 # IGL02187
Quality Score
Status
Chromosome 12
Chromosomal Location 111794891-111874544 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 111801472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 404 (T404K)
Ref Sequence ENSEMBL: ENSMUSP00000152424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054815] [ENSMUST00000220486] [ENSMUST00000222843]
AlphaFold Q62415
Predicted Effect probably damaging
Transcript: ENSMUST00000054815
AA Change: T527K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000062464
Gene: ENSMUSG00000021285
AA Change: T527K

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 probably damaging
Transcript: ENSMUST00000220486
AA Change: T404K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 C A 8: 114,439,826 (GRCm39) E922D possibly damaging Het
Asxl3 T A 18: 22,658,035 (GRCm39) M2015K probably damaging Het
C8a C A 4: 104,719,933 (GRCm39) R15L probably damaging Het
Catsperg2 A G 7: 29,420,791 (GRCm39) V47A probably benign Het
Cdhr2 C T 13: 54,881,523 (GRCm39) T1081I possibly damaging Het
Cenatac C T 9: 44,322,084 (GRCm39) probably benign Het
Cep85 T A 4: 133,858,616 (GRCm39) M752L possibly damaging Het
Cxcr3 T A X: 100,776,483 (GRCm39) S60C probably damaging Het
Cyp24a1 T A 2: 170,336,013 (GRCm39) N208I probably damaging Het
Cyp2c38 A G 19: 39,424,649 (GRCm39) I223T probably benign Het
Dennd6a A G 14: 26,328,081 (GRCm39) I35V probably benign Het
Emb T G 13: 117,405,507 (GRCm39) probably benign Het
Fbxo3 T C 2: 103,858,295 (GRCm39) Y30H probably damaging Het
Fnbp1l G A 3: 122,362,449 (GRCm39) R120* probably null Het
Galnt2 T C 8: 125,032,245 (GRCm39) probably benign Het
Gckr T C 5: 31,464,768 (GRCm39) probably benign Het
Gpr101 A G X: 56,546,841 (GRCm39) F103S probably damaging Het
Gprasp1 T A X: 134,699,912 (GRCm39) V35E probably damaging Het
Ift80 C A 3: 68,892,789 (GRCm39) W133L probably damaging Het
Impdh1 C A 6: 29,207,086 (GRCm39) probably benign Het
Ino80 T C 2: 119,275,938 (GRCm39) probably benign Het
Kansl1 A T 11: 104,269,657 (GRCm39) probably null Het
Klhl20 C T 1: 160,937,280 (GRCm39) V32I probably benign Het
Lrfn3 A G 7: 30,055,389 (GRCm39) S519P probably damaging Het
Mrpl51 A G 6: 125,170,294 (GRCm39) N100S probably benign Het
Mybpc3 T C 2: 90,965,797 (GRCm39) I1203T probably benign Het
Nbr1 A G 11: 101,460,185 (GRCm39) I394V possibly damaging Het
Nfasc G A 1: 132,498,219 (GRCm39) T1155M probably damaging Het
Or7g34 T A 9: 19,478,393 (GRCm39) T96S probably benign Het
Pan3 T C 5: 147,463,398 (GRCm39) I440T probably benign Het
Patz1 T C 11: 3,241,134 (GRCm39) L174P probably damaging Het
Paxx A G 2: 25,350,668 (GRCm39) L62P probably damaging Het
Plekhh1 T C 12: 79,119,592 (GRCm39) S972P probably damaging Het
Prkaa2 T C 4: 104,904,363 (GRCm39) N238S probably benign Het
Prpf6 T C 2: 181,257,809 (GRCm39) Y94H probably damaging Het
Rtn4 T C 11: 29,658,291 (GRCm39) I815T possibly damaging Het
Slc44a5 A G 3: 153,968,554 (GRCm39) T582A probably benign Het
Slitrk3 A G 3: 72,957,605 (GRCm39) L389S probably damaging Het
Srp54b T A 12: 55,299,560 (GRCm39) M297K probably benign Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zmym4 T A 4: 126,764,066 (GRCm39) I1325L probably damaging Het
Zswim2 C A 2: 83,753,982 (GRCm39) R226L 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
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
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 2015-04-16