Incidental Mutation 'IGL03103:Pstpip1'
ID 418840
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pstpip1
Ensembl Gene ENSMUSG00000032322
Gene Name proline-serine-threonine phosphatase-interacting protein 1
Synonyms CD2BP1, def-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # IGL03103
Quality Score
Status
Chromosome 9
Chromosomal Location 55997246-56036172 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 56021592 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 39 (V39L)
Ref Sequence ENSEMBL: ENSMUSP00000055823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059206]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000059206
AA Change: V39L

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000055823
Gene: ENSMUSG00000032322
AA Change: V39L

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: ENSMUST00000138646
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147360
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 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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdc27 A T 11: 104,403,806 (GRCm39) F652Y probably benign Het
Cntn5 T C 9: 9,972,817 (GRCm39) probably benign Het
Ctsc A G 7: 87,959,013 (GRCm39) N431S probably benign Het
Ddi2 A G 4: 141,430,479 (GRCm39) M235T probably damaging Het
Dgkg G A 16: 22,399,275 (GRCm39) P220S probably damaging Het
Gpr180 A T 14: 118,377,175 (GRCm39) I59F possibly damaging Het
Haspin A T 11: 73,027,526 (GRCm39) V521D probably damaging Het
Itprid1 A G 6: 55,945,144 (GRCm39) T622A possibly damaging Het
Kif16b G T 2: 142,704,408 (GRCm39) T57N probably damaging Het
Lmbr1 A G 5: 29,440,014 (GRCm39) F422S probably damaging Het
Lpcat2b A T 5: 107,581,414 (GRCm39) N248Y probably damaging Het
Lrch3 T C 16: 32,772,507 (GRCm39) V163A probably damaging Het
Lrrc49 A G 9: 60,592,316 (GRCm39) probably null Het
Mon2 T A 10: 122,866,008 (GRCm39) probably benign Het
Mroh4 T C 15: 74,488,008 (GRCm39) S374G possibly damaging Het
Nr1h3 T A 2: 91,022,360 (GRCm39) K89N probably damaging Het
Or4c29 A T 2: 88,740,522 (GRCm39) S72T probably benign Het
Or52w1 A G 7: 105,017,785 (GRCm39) D75G probably damaging Het
Or8b49 A G 9: 38,505,823 (GRCm39) Y102C probably damaging Het
Phldb3 C T 7: 24,323,601 (GRCm39) P445L possibly damaging Het
Sbf1 A T 15: 89,178,150 (GRCm39) L1560Q probably damaging Het
Sco1 C T 11: 66,946,568 (GRCm39) Q114* probably null Het
Slc29a4 A G 5: 142,697,835 (GRCm39) H96R probably damaging Het
Slitrk6 A G 14: 110,987,373 (GRCm39) L778P probably benign Het
Tas2r110 A G 6: 132,845,443 (GRCm39) Q158R probably benign Het
Tle3 A G 9: 61,300,524 (GRCm39) I92V possibly damaging Het
Ttn T A 2: 76,579,266 (GRCm39) M15549L possibly damaging Het
Urb2 T G 8: 124,756,491 (GRCm39) S733A probably benign Het
Vcl T C 14: 21,074,348 (GRCm39) W912R probably damaging Het
Other mutations in Pstpip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0108:Pstpip1 UTSW 9 56,035,050 (GRCm39) missense probably benign 0.00
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 2016-08-02