Incidental Mutation 'R1269:Pstpip1'
ID 151249
Institutional Source Beutler Lab
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: 0.120) question?
Stock # R1269 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 55997246-56036172 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56021590 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 38 (D38G)
Ref Sequence ENSEMBL: ENSMUSP00000055823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059206]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000059206
AA Change: D38G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055823
Gene: ENSMUSG00000032322
AA Change: D38G

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
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.2%
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 C T 11: 94,248,210 (GRCm39) R1129Q probably damaging Het
Brd8 C T 18: 34,742,857 (GRCm39) probably null Het
Ccdc9b C T 2: 118,591,871 (GRCm39) E90K possibly damaging Het
Dnah5 G A 15: 28,238,657 (GRCm39) V400M probably damaging Het
Epc2 T A 2: 49,412,588 (GRCm39) S189T probably benign Het
Inpp4a T C 1: 37,428,823 (GRCm39) S83P probably benign Het
Ints2 C T 11: 86,123,911 (GRCm39) G626R probably damaging Het
Ltbp1 A G 17: 75,532,280 (GRCm39) Q118R possibly damaging Het
Mbtps1 T C 8: 120,247,016 (GRCm39) D809G probably damaging Het
Nbea T C 3: 55,912,202 (GRCm39) E1195G probably benign Het
Nfasc G T 1: 132,538,526 (GRCm39) P454T probably damaging Het
Nlrp4e T A 7: 23,052,763 (GRCm39) I894N possibly damaging Het
Picalm A T 7: 89,814,757 (GRCm39) R129* probably null Het
Plekhg3 T C 12: 76,607,243 (GRCm39) I101T probably damaging Het
Sec13 A G 6: 113,714,956 (GRCm39) S3P probably damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Sytl1 A T 4: 132,983,426 (GRCm39) L370Q probably damaging Het
Tenm2 T A 11: 35,899,185 (GRCm39) I2658F possibly damaging Het
Tmc5 A G 7: 118,265,816 (GRCm39) M769V probably benign Het
Tspan8 A G 10: 115,685,287 (GRCm39) I232V probably damaging Het
Wbp1 G A 6: 83,096,584 (GRCm39) T156I probably benign Het
Wfikkn2 T C 11: 94,129,301 (GRCm39) Y280C probably damaging Het
Xrcc6 A T 15: 81,907,048 (GRCm39) Q123H possibly damaging Het
Zfp526 T C 7: 24,923,788 (GRCm39) S16P probably benign Het
Other mutations in Pstpip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03103:Pstpip1 APN 9 56,021,592 (GRCm39) missense possibly damaging 0.65
R0108:Pstpip1 UTSW 9 56,035,050 (GRCm39) missense probably benign 0.00
R0344:Pstpip1 UTSW 9 56,033,929 (GRCm39) missense probably benign
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
Predicted Primers PCR Primer
(F):5'- CAATGTCATAAGGGCATGAGCAACG -3'
(R):5'- CCATGAGCTTCTGTGGATTCTCCTG -3'

Sequencing Primer
(F):5'- AGGCAGGCATTCCACGAG -3'
(R):5'- cttgctatagaaggggatttgaac -3'
Posted On 2014-01-29