Incidental Mutation 'R1563:Ppp1r13b'
ID 170780
Institutional Source Beutler Lab
Gene Symbol Ppp1r13b
Ensembl Gene ENSMUSG00000021285
Gene Name protein phosphatase 1, regulatory subunit 13B
Synonyms ASPP1
MMRRC Submission 039602-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.838) question?
Stock # R1563 (G1)
Quality Score 152
Status Validated
Chromosome 12
Chromosomal Location 111794891-111874544 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111807416 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 157 (E157G)
Ref Sequence ENSEMBL: ENSMUSP00000152424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054815] [ENSMUST00000220486]
AlphaFold Q62415
Predicted Effect possibly damaging
Transcript: ENSMUST00000054815
AA Change: E315G

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000062464
Gene: ENSMUSG00000021285
AA Change: E315G

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: E157G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Meta Mutation Damage Score 0.1441 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.4%
Validation Efficiency 98% (82/84)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik T C 5: 115,001,569 (GRCm39) M22T probably benign Het
A930018M24Rik A G 14: 51,134,576 (GRCm39) L22P probably damaging Het
Aipl1 A T 11: 71,927,538 (GRCm39) M59K probably damaging Het
Atg2b T C 12: 105,589,747 (GRCm39) I1835V probably damaging Het
Cacna1i A T 15: 80,274,056 (GRCm39) probably benign Het
Cacna1i T C 15: 80,205,389 (GRCm39) V115A probably damaging Het
Catsperb T A 12: 101,554,361 (GRCm39) M685K probably damaging Het
Cdh10 T A 15: 18,986,853 (GRCm39) Y361* probably null Het
Clcn4 C T 7: 7,296,981 (GRCm39) C219Y probably damaging Het
Cpeb2 G A 5: 43,443,080 (GRCm39) V924M probably damaging Het
Cpxm2 T C 7: 131,745,411 (GRCm39) E138G probably benign Het
Dennd1a T C 2: 37,748,441 (GRCm39) Y346C probably damaging Het
Dnah8 T A 17: 30,854,638 (GRCm39) L100Q probably benign Het
Dnajc6 A C 4: 101,456,334 (GRCm39) N76T probably damaging Het
Ehbp1 A G 11: 22,009,231 (GRCm39) L954P probably damaging Het
Eral1 A T 11: 77,966,232 (GRCm39) D315E probably benign Het
Fbln2 G T 6: 91,240,365 (GRCm39) E724* probably null Het
Fyco1 A G 9: 123,656,247 (GRCm39) probably benign Het
Fzd3 T A 14: 65,473,173 (GRCm39) E198D probably damaging Het
Fzd9 T C 5: 135,279,408 (GRCm39) N159S probably damaging Het
Galnt6 T A 15: 100,601,259 (GRCm39) Q340L probably benign Het
Gm20939 C T 17: 95,184,522 (GRCm39) A390V probably damaging Het
Gm5435 T G 12: 82,542,464 (GRCm39) noncoding transcript Het
Gm9949 A C 18: 62,317,089 (GRCm39) probably benign Het
Gprc5b G A 7: 118,582,984 (GRCm39) T295I probably benign Het
Gria2 G T 3: 80,598,704 (GRCm39) Q777K probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Haao T C 17: 84,142,318 (GRCm39) T174A probably benign Het
Hes6 A T 1: 91,340,858 (GRCm39) M1K probably null Het
Hook3 G T 8: 26,600,780 (GRCm39) Q43K probably benign Het
Klhl35 T C 7: 99,120,902 (GRCm39) V390A probably damaging Het
Myh9 G T 15: 77,656,057 (GRCm39) T1151K probably damaging Het
Nbn A T 4: 15,981,668 (GRCm39) I587F possibly damaging Het
Nek4 A G 14: 30,704,408 (GRCm39) D696G probably damaging Het
Niban1 A T 1: 151,591,424 (GRCm39) Y522F possibly damaging Het
Nlrp2 T C 7: 5,311,724 (GRCm39) D52G probably damaging Het
Oit3 G T 10: 59,263,896 (GRCm39) R413S probably damaging Het
Or4k48 T A 2: 111,476,027 (GRCm39) H105L probably damaging Het
Or6c1b A G 10: 129,273,580 (GRCm39) M300V probably benign Het
Otof T C 5: 30,528,349 (GRCm39) T1870A probably benign Het
Pdgfd T C 9: 6,293,939 (GRCm39) probably null Het
Pitrm1 T C 13: 6,613,506 (GRCm39) V526A possibly damaging Het
Pknox1 T C 17: 31,814,256 (GRCm39) S194P probably damaging Het
Plekhg5 T C 4: 152,181,266 (GRCm39) S8P probably benign Het
Psmd3 C T 11: 98,585,051 (GRCm39) R466W probably damaging Het
Ptgfrn A G 3: 100,967,967 (GRCm39) F542S possibly damaging Het
Ptgs1 A T 2: 36,135,214 (GRCm39) M393L possibly damaging Het
Qpct T A 17: 79,371,492 (GRCm39) S87T probably benign Het
Qtrt1 T A 9: 21,330,607 (GRCm39) V269D probably benign Het
Rassf9 C G 10: 102,380,821 (GRCm39) R68G probably damaging Het
Relch A G 1: 105,647,259 (GRCm39) Y707C probably damaging Het
Rif1 A G 2: 51,963,235 (GRCm39) E25G probably damaging Het
Rnf213 T C 11: 119,305,352 (GRCm39) F528L probably benign Het
Sgip1 T C 4: 102,823,457 (GRCm39) S693P probably benign Het
She A G 3: 89,761,921 (GRCm39) D460G probably benign Het
Sipa1l1 G T 12: 82,387,935 (GRCm39) V54L probably benign Het
Slc8a3 T A 12: 81,251,781 (GRCm39) D640V possibly damaging Het
Smurf1 T A 5: 144,819,323 (GRCm39) E601D probably damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Synpo2l A G 14: 20,711,346 (GRCm39) S425P probably damaging Het
Tbck T C 3: 132,421,454 (GRCm39) V187A possibly damaging Het
Tcf23 A T 5: 31,126,175 (GRCm39) H18L probably benign Het
Tcp11l2 A G 10: 84,420,808 (GRCm39) S16G probably damaging Het
Tekt2 T A 4: 126,217,200 (GRCm39) M233L probably benign Het
Tex14 T C 11: 87,427,634 (GRCm39) S29P probably damaging Het
Tjp2 T A 19: 24,110,067 (GRCm39) N59I probably damaging Het
Tlr5 G A 1: 182,802,575 (GRCm39) M626I probably benign Het
Tnn A T 1: 159,952,985 (GRCm39) V685D probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trhr G A 15: 44,060,497 (GRCm39) V6I probably benign Het
Trim30c C T 7: 104,032,158 (GRCm39) R301Q probably benign Het
Usp51 T C X: 151,790,988 (GRCm39) I194T probably benign Het
Vmn2r63 A G 7: 42,553,550 (GRCm39) S569P probably benign Het
Vps26a T G 10: 62,300,459 (GRCm39) I236L probably benign Het
Zc3h7b C T 15: 81,661,289 (GRCm39) P376L probably benign Het
Zcchc14 T C 8: 122,330,718 (GRCm39) M882V probably benign Het
Zfhx2 A G 14: 55,302,545 (GRCm39) V1813A probably benign Het
Zswim2 C T 2: 83,745,626 (GRCm39) G604D possibly damaging Het
Zzef1 C T 11: 72,739,559 (GRCm39) Q669* probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- GCAGAGGACTAGAACCATTAGCAGC -3'
(R):5'- GAAGTTCCTGAAAGCTCCTGACCAG -3'

Sequencing Primer
(F):5'- GGAAGACTACCATATTCCCCTGTG -3'
(R):5'- ATTGATTCACCTACTGGACACC -3'
Posted On 2014-04-13