Incidental Mutation 'R4778:Pstpip1'
ID 368091
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 042414-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R4778 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 55997246-56036172 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56035904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 383 (D383G)
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: D383G

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000055823
Gene: ENSMUSG00000032322
AA Change: D383G

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 0.1609 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 98% (54/55)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 T C 17: 46,615,342 (GRCm39) N1349S probably damaging Het
Ahnak T C 19: 8,989,339 (GRCm39) V3541A possibly damaging Het
Arhgap33 T A 7: 30,231,518 (GRCm39) T156S probably benign Het
Bltp1 T A 3: 36,991,214 (GRCm39) M897K possibly damaging Het
Card11 G T 5: 140,869,537 (GRCm39) probably null Het
Cdh3 T A 8: 107,270,458 (GRCm39) I445N probably damaging Het
Csrp3 T G 7: 48,482,311 (GRCm39) K169N probably damaging Het
Cyp2c69 T C 19: 39,866,038 (GRCm39) N185S probably benign Het
Czib T C 4: 107,749,195 (GRCm39) V64A probably damaging Het
Dpysl3 C T 18: 43,487,867 (GRCm39) V159I probably benign Het
Erc1 A T 6: 119,774,298 (GRCm39) probably null Het
Fat1 T C 8: 45,491,363 (GRCm39) V3808A probably benign Het
Fbxw19 T C 9: 109,323,714 (GRCm39) D87G probably damaging Het
Gm1123 T C 9: 98,900,560 (GRCm39) I99V probably benign Het
Gm11677 C T 11: 111,615,537 (GRCm39) noncoding transcript Het
Hand1 T C 11: 57,722,449 (GRCm39) D55G possibly damaging Het
Lrguk T A 6: 34,033,015 (GRCm39) I227K probably damaging Het
Mdn1 C T 4: 32,683,583 (GRCm39) R726* probably null Het
Minar1 T A 9: 89,485,155 (GRCm39) I81F probably damaging Het
Myo16 T A 8: 10,619,694 (GRCm39) V1415E probably damaging Het
Myof T C 19: 37,938,011 (GRCm39) D901G probably damaging Het
Naip1 A G 13: 100,563,156 (GRCm39) Y670H probably damaging Het
Nmd3 T A 3: 69,638,924 (GRCm39) Y171* probably null Het
Notch4 C T 17: 34,801,485 (GRCm39) A1111V possibly damaging Het
Nphp4 T A 4: 152,640,748 (GRCm39) D1038E probably benign Het
Or2ag1b A C 7: 106,288,874 (GRCm39) S21R probably damaging Het
Or5p60 A T 7: 107,723,687 (GRCm39) I261N possibly damaging Het
Osbpl10 C T 9: 114,938,598 (GRCm39) S86L probably damaging Het
Pcsk6 G A 7: 65,608,893 (GRCm39) G252R probably damaging Het
Pole T G 5: 110,478,698 (GRCm39) H15Q probably benign Het
Ptprq T C 10: 107,426,883 (GRCm39) T1551A probably benign Het
Rasgrf2 A G 13: 92,131,780 (GRCm39) F626L probably damaging Het
Retreg1 C A 15: 25,971,871 (GRCm39) N394K possibly damaging Het
Rpl7-ps8 T A 15: 59,083,252 (GRCm39) noncoding transcript Het
Rpp14 T A 14: 8,090,203 (GRCm38) D42E probably benign Het
Rrp8 T A 7: 105,386,481 (GRCm39) probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Snx1 T C 9: 66,008,698 (GRCm39) probably benign Het
Stau1 A T 2: 166,805,442 (GRCm39) N51K probably benign Het
Tdrd5 T A 1: 156,083,157 (GRCm39) D960V probably damaging Het
Tex10 T C 4: 48,436,468 (GRCm39) D750G probably damaging Het
Tmem43 T C 6: 91,459,237 (GRCm39) V236A probably damaging Het
Tmem89 T C 9: 108,744,443 (GRCm39) V112A probably damaging Het
Traf7 C G 17: 24,729,412 (GRCm39) probably benign Het
Vmn1r41 A C 6: 89,724,257 (GRCm39) K266T probably damaging Het
Vmn2r65 T C 7: 84,592,801 (GRCm39) K469E possibly damaging Het
Zfp831 A G 2: 174,488,600 (GRCm39) T1092A possibly damaging Het
Zfp981 T A 4: 146,622,112 (GRCm39) S346T 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
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
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'- TCTGGAGGCCTTAGCATGAC -3'
(R):5'- TATTGAGAGTAGCCAGCACCCAG -3'

Sequencing Primer
(F):5'- TTAGCATGACTCAGCAGACTG -3'
(R):5'- ACCACCGGGCTTGGTTCTG -3'
Posted On 2015-12-29