Incidental Mutation 'R8828:Ppp1r13b'
ID 673629
Institutional Source Beutler Lab
Gene Symbol Ppp1r13b
Ensembl Gene ENSMUSG00000021285
Gene Name protein phosphatase 1, regulatory subunit 13B
Synonyms ASPP1
MMRRC Submission 068730-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.838) question?
Stock # R8828 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 111794891-111874544 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111799981 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 722 (K722E)
Ref Sequence ENSEMBL: ENSMUSP00000062464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054815] [ENSMUST00000220486] [ENSMUST00000222843]
AlphaFold Q62415
Predicted Effect probably damaging
Transcript: ENSMUST00000054815
AA Change: K722E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000062464
Gene: ENSMUSG00000021285
AA Change: K722E

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
Predicted Effect probably benign
Transcript: ENSMUST00000222843
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A T 16: 56,507,455 (GRCm39) Y1091F probably damaging Het
Arl8b A G 6: 108,792,250 (GRCm39) I104V probably benign Het
Asb2 C A 12: 103,304,457 (GRCm39) G16C probably benign Het
Bptf T C 11: 106,945,836 (GRCm39) S2468G probably damaging Het
Capns1 T A 7: 29,889,963 (GRCm39) D182V probably damaging Het
Cct5 T C 15: 31,594,658 (GRCm39) H182R possibly damaging Het
Cd200 G A 16: 45,215,157 (GRCm39) R165C probably benign Het
Chd3 C T 11: 69,247,097 (GRCm39) V1024I probably damaging Het
Chd8 CAGGGTCTGCCCTCATGGTATTGTATTTCTCATAGCCTAAAAGAACAAGGG C 14: 52,448,037 (GRCm39) probably null Het
Csmd1 T C 8: 16,048,794 (GRCm39) S2303G probably benign Het
Ctsl A G 13: 64,514,314 (GRCm39) S255P probably damaging Het
Dclre1c T G 2: 3,444,714 (GRCm39) N268K possibly damaging Het
Dock10 T C 1: 80,521,134 (GRCm39) D1158G probably damaging Het
Dock6 A T 9: 21,757,797 (GRCm39) D102E probably benign Het
Dvl3 T A 16: 20,344,495 (GRCm39) D290E probably damaging Het
Fam72a T A 1: 131,458,461 (GRCm39) C74* probably null Het
Gnrh1 T A 14: 67,985,334 (GRCm39) L73Q probably damaging Het
Grina T A 15: 76,132,497 (GRCm39) S115T probably damaging Het
Grm3 A T 5: 9,554,725 (GRCm39) S856T probably benign Het
Hars1 C A 18: 36,899,996 (GRCm39) R490L possibly damaging Het
Ide T A 19: 37,292,241 (GRCm39) K318I Het
Immt C A 6: 71,829,762 (GRCm39) S156* probably null Het
Iqcd A G 5: 120,738,232 (GRCm39) I17V possibly damaging Het
Klhdc1 T C 12: 69,298,808 (GRCm39) V131A probably damaging Het
Klk6 C A 7: 43,478,061 (GRCm39) N144K Het
Klk6 T C 7: 43,478,062 (GRCm39) C145R probably damaging Het
Lrfn2 A T 17: 49,404,132 (GRCm39) T752S probably damaging Het
Lrguk A C 6: 34,080,572 (GRCm39) Q1269P unknown Het
Lrwd1 G T 5: 136,164,787 (GRCm39) Q7K probably benign Het
Macf1 A T 4: 123,302,204 (GRCm39) M766K probably benign Het
Myo3a A T 2: 22,245,864 (GRCm39) T4S probably benign Het
Neb T C 2: 52,084,438 (GRCm39) Y5587C probably damaging Het
Nf1 A T 11: 79,286,679 (GRCm39) probably null Het
Npepps G T 11: 97,131,823 (GRCm39) R344S probably damaging Het
Nudt16l2 C T 9: 105,021,648 (GRCm39) D133N probably damaging Het
Or52p1 A T 7: 104,267,486 (GRCm39) Y200F probably damaging Het
Or5v1b A G 17: 37,841,333 (GRCm39) N155S probably damaging Het
Pcnx1 T A 12: 82,042,597 (GRCm39) W2286R probably damaging Het
Ppm1g A T 5: 31,365,768 (GRCm39) N51K probably benign Het
Prim1 A G 10: 127,859,761 (GRCm39) S318G probably damaging Het
Prl4a1 T C 13: 28,207,307 (GRCm39) Y194H probably damaging Het
Prl7c1 A T 13: 27,957,854 (GRCm39) D195E probably benign Het
Psmb2 A G 4: 126,603,330 (GRCm39) D186G probably benign Het
Ptprq A G 10: 107,482,513 (GRCm39) V1020A probably benign Het
Scgb2b20 T C 7: 33,065,689 (GRCm39) T13A unknown Het
Scly C A 1: 91,244,830 (GRCm39) H310Q possibly damaging Het
Sdccag8 G A 1: 176,783,473 (GRCm39) E661K probably damaging Het
Sema4f G A 6: 82,894,873 (GRCm39) L441F probably benign Het
Sema4f A C 6: 82,894,874 (GRCm39) Y440* probably null Het
Tmem262 C T 19: 6,130,118 (GRCm39) probably benign Het
Trim33 A G 3: 103,236,392 (GRCm39) T501A probably damaging Het
Trio C A 15: 27,741,150 (GRCm39) V2692F possibly damaging Het
Ttn A T 2: 76,772,774 (GRCm39) V2453E unknown Het
Ttn G T 2: 76,541,956 (GRCm39) R33677S probably benign Het
Uaca T A 9: 60,778,852 (GRCm39) S1080T probably benign Het
Vav3 T A 3: 109,555,051 (GRCm39) C660S probably benign Het
Vmn1r229 T A 17: 21,034,990 (GRCm39) D78E probably damaging Het
Vmn2r73 A G 7: 85,521,179 (GRCm39) V263A probably damaging Het
Yeats2 A T 16: 19,969,260 (GRCm39) D17V probably benign Het
Zfp658 T A 7: 43,222,240 (GRCm39) W172R probably benign Het
Zfp804a A C 2: 82,089,459 (GRCm39) H1096P possibly damaging Het
Zkscan14 C T 5: 145,138,375 (GRCm39) W37* probably null Het
Zmynd15 A T 11: 70,355,017 (GRCm39) D468V probably damaging Het
Zmynd8 A T 2: 165,654,466 (GRCm39) V682E 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
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
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'- TCATTGGCATCTGAGGAAGG -3'
(R):5'- CTCTGCTGAGAAAGAGCCAG -3'

Sequencing Primer
(F):5'- GCAAGCTCCTCAGGAAGTG -3'
(R):5'- CAGCACAGTGGAAAGCCTGC -3'
Posted On 2021-07-15