Incidental Mutation 'R5094:Ppp1r13b'
ID 388002
Institutional Source Beutler Lab
Gene Symbol Ppp1r13b
Ensembl Gene ENSMUSG00000021285
Gene Name protein phosphatase 1, regulatory subunit 13B
Synonyms ASPP1
MMRRC Submission 042683-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.838) question?
Stock # R5094 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 111794891-111874544 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111810044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 97 (S97P)
Ref Sequence ENSEMBL: ENSMUSP00000152424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054815] [ENSMUST00000220486]
AlphaFold Q62415
Predicted Effect probably benign
Transcript: ENSMUST00000054815
AA Change: S255P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000062464
Gene: ENSMUSG00000021285
AA Change: S255P

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 benign
Transcript: ENSMUST00000220486
AA Change: S97P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Meta Mutation Damage Score 0.0592 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.9%
Validation Efficiency 91% (40/44)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik G T 15: 81,946,883 (GRCm39) G260V possibly damaging Het
Agap3 T C 5: 24,656,319 (GRCm39) probably benign Het
Bicra A G 7: 15,709,296 (GRCm39) S1173P probably damaging Het
C3 A T 17: 57,532,033 (GRCm39) probably null Het
Cdh18 G A 15: 22,714,625 (GRCm39) probably benign Het
Cep290 A G 10: 100,402,892 (GRCm39) K2274E probably damaging Het
Cfap54 T C 10: 92,734,861 (GRCm39) probably benign Het
Chat T A 14: 32,130,896 (GRCm39) I582F probably damaging Het
Chrnb4 T C 9: 54,942,597 (GRCm39) I226V probably benign Het
Dnajc2 T C 5: 21,981,730 (GRCm39) T139A probably damaging Het
Eml1 T C 12: 108,502,570 (GRCm39) F712S probably benign Het
Fgfr1 C T 8: 26,060,181 (GRCm39) S524L probably damaging Het
Gimap3 T C 6: 48,742,306 (GRCm39) E208G probably damaging Het
Gm12185 T A 11: 48,798,375 (GRCm39) D706V probably benign Het
Gucy1a2 T A 9: 3,865,443 (GRCm39) V639D probably damaging Het
Hivep2 T C 10: 14,007,893 (GRCm39) F1497S probably benign Het
Hunk A G 16: 90,293,554 (GRCm39) D612G probably benign Het
Ifit3b T A 19: 34,589,948 (GRCm39) S375T possibly damaging Het
Mucl1 A G 15: 103,785,669 (GRCm39) S13P possibly damaging Het
Or5w12 C T 2: 87,502,174 (GRCm39) C179Y possibly damaging Het
Or8k20 T A 2: 86,106,384 (GRCm39) Y149F probably damaging Het
Pah T A 10: 87,374,081 (GRCm39) Y78* probably null Het
Pex13 A G 11: 23,605,441 (GRCm39) V263A probably benign Het
Pfdn2 T A 1: 171,184,067 (GRCm39) probably benign Het
Phip C T 9: 82,753,897 (GRCm39) V1616I probably benign Het
Pigg A G 5: 108,484,123 (GRCm39) S457G possibly damaging Het
Slc22a6 T C 19: 8,603,541 (GRCm39) L535P probably damaging Het
Slc5a1 A G 5: 33,315,624 (GRCm39) T548A probably damaging Het
Smtnl2 T A 11: 72,291,211 (GRCm39) S346C probably damaging Het
Spata31d1a A G 13: 59,852,858 (GRCm39) probably null Het
Tlcd2 T C 11: 75,360,640 (GRCm39) S228P probably benign Het
Tmem135 A G 7: 88,793,001 (GRCm39) L411P probably damaging Het
Tnrc6c T C 11: 117,611,872 (GRCm39) V170A probably benign 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
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
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'- ATGAAGTTAGGGTCAGCGAGTC -3'
(R):5'- CCAAGGCTAGCATAAATAGTACCAG -3'

Sequencing Primer
(F):5'- TCAGCGAGTCTGTTTCCAGGC -3'
(R):5'- GGCTAGCATAAATAGTACCAGAATTG -3'
Posted On 2016-06-06