Incidental Mutation 'R0108:Pstpip1'
ID 17470
Institutional Source Beutler Lab
Gene Symbol Pstpip1
Ensembl Gene ENSMUSG00000032322
Gene Name proline-serine-threonine phosphatase-interacting protein 1
Synonyms CD2BP1, def-2
MMRRC Submission 038394-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R0108 (G1)
Quality Score
Status Validated
Chromosome 9
Chromosomal Location 55997246-56036172 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56035050 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 341 (E341G)
Ref Sequence ENSEMBL: ENSMUSP00000055823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059206]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000059206
AA Change: E341G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000055823
Gene: ENSMUSG00000032322
AA Change: E341G

DomainStartEndE-ValueType
FCH 12 98 7.03e-29 SMART
Blast:SH3 226 248 1e-7 BLAST
low complexity region 318 337 N/A INTRINSIC
SH3 361 415 8.24e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132800
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135103
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138646
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142894
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144638
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147360
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214970
Meta Mutation Damage Score 0.0734 question?
Coding Region Coverage
  • 1x: 87.1%
  • 3x: 81.7%
  • 10x: 58.7%
  • 20x: 25.7%
Validation Efficiency 90% (92/102)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoskeletal protein that is highly expressed in hemopoietic tissues. This protein functions via its interaction with several different proteins involved in cytoskeletal organization and inflammatory processes. It binds to the cytoplasmic tail of CD2, an effector of T cell activation and adhesion, downregulating CD2-triggered adhesion. It binds PEST-type protein tyrosine phosphatases (PTP) and directs them to c-Abl kinase to mediate c-Abl dephosphorylation, thereby, regulating c-Abl activity. It also interacts with pyrin, which is found in association with the cytoskeleton in myeloid/monocytic cells and modulates immunoregulatory functions. Mutations in this gene are associated with PAPA (pyogenic sterile arthritis, pyoderma gangrenosum, and acne) syndrome. It is hypothesized that the disease-causing mutations compromise physiologic signaling necessary for the maintenance of a proper inflammatory response. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defects in immune cells with T cell hyperresponsive to antigen receptor stimulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,224,692 (GRCm39) N910K probably benign Het
Ackr4 T A 9: 103,976,387 (GRCm39) I187F probably benign Het
Adamts12 T C 15: 11,311,184 (GRCm39) V1147A probably benign Het
Adcy2 A T 13: 68,800,054 (GRCm39) V858E probably damaging Het
Adgrv1 A G 13: 81,726,523 (GRCm39) probably benign Het
Atg4c C T 4: 99,109,677 (GRCm39) H215Y possibly damaging Het
Ccdc88a T A 11: 29,453,463 (GRCm39) S337T probably damaging Het
Evpl T C 11: 116,111,702 (GRCm39) E1996G probably damaging Het
Fbxw10 A G 11: 62,767,887 (GRCm39) T903A probably benign Het
Frem2 G T 3: 53,555,382 (GRCm39) D1718E probably benign Het
Gatad2b T A 3: 90,265,250 (GRCm39) Y576N probably damaging Het
Gm136 G T 4: 34,746,593 (GRCm39) H139Q possibly damaging Het
Helq C A 5: 100,916,234 (GRCm39) E913* probably null Het
Itgb7 C T 15: 102,131,917 (GRCm39) R222H probably damaging Het
Lmtk2 C T 5: 144,111,103 (GRCm39) R608C possibly damaging Het
Lonp2 G A 8: 87,442,983 (GRCm39) V815I probably benign Het
Mpdz C T 4: 81,300,042 (GRCm39) V319I probably damaging Het
Ntng1 T C 3: 109,759,071 (GRCm39) probably benign Het
Nup210l A G 3: 90,096,882 (GRCm39) T1364A probably damaging Het
Or10q1b A T 19: 13,683,042 (GRCm39) T284S probably damaging Het
Pcdha1 T A 18: 37,131,809 (GRCm39) W293R probably benign Het
Plcl1 A G 1: 55,737,098 (GRCm39) Y813C possibly damaging Het
Plekho2 A T 9: 65,466,705 (GRCm39) D128E probably damaging Het
Rps6ka2 G A 17: 7,563,442 (GRCm39) D617N probably benign Het
Scin A G 12: 40,177,986 (GRCm39) V83A possibly damaging Het
Sec11a A G 7: 80,584,787 (GRCm39) V50A probably damaging Het
Sel1l3 C T 5: 53,295,244 (GRCm39) A786T possibly damaging Het
Shroom1 T C 11: 53,357,764 (GRCm39) S772P possibly damaging Het
Slc30a5 G T 13: 100,939,908 (GRCm39) A669E probably damaging Het
Tm6sf1 G A 7: 81,515,093 (GRCm39) probably null Het
Ttll4 G T 1: 74,718,928 (GRCm39) V260L probably benign Het
Zfand3 A G 17: 30,354,372 (GRCm39) E63G probably damaging Het
Other mutations in Pstpip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03103:Pstpip1 APN 9 56,021,592 (GRCm39) missense possibly damaging 0.65
R0344:Pstpip1 UTSW 9 56,033,929 (GRCm39) missense probably benign
R1269:Pstpip1 UTSW 9 56,021,590 (GRCm39) missense probably damaging 1.00
R1743:Pstpip1 UTSW 9 56,033,214 (GRCm39) missense probably damaging 1.00
R4648:Pstpip1 UTSW 9 56,032,502 (GRCm39) missense probably damaging 1.00
R4778:Pstpip1 UTSW 9 56,035,904 (GRCm39) missense possibly damaging 0.95
R5932:Pstpip1 UTSW 9 56,033,214 (GRCm39) missense probably damaging 1.00
R7107:Pstpip1 UTSW 9 56,035,934 (GRCm39) missense probably damaging 1.00
R8066:Pstpip1 UTSW 9 56,033,913 (GRCm39) missense probably benign 0.01
R8076:Pstpip1 UTSW 9 56,035,064 (GRCm39) missense probably benign
Posted On 2013-01-31