Incidental Mutation 'R4881:Pstpip2'
ID 375311
Institutional Source Beutler Lab
Gene Symbol Pstpip2
Ensembl Gene ENSMUSG00000025429
Gene Name proline-serine-threonine phosphatase-interacting protein 2
Synonyms cmo
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4881 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 77882250-77971462 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 77962032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 267 (Y267*)
Ref Sequence ENSEMBL: ENSMUSP00000110389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114741]
AlphaFold Q99M15
Predicted Effect probably null
Transcript: ENSMUST00000114741
AA Change: Y267*
SMART Domains Protein: ENSMUSP00000110389
Gene: ENSMUSG00000025429
AA Change: Y267*

DomainStartEndE-ValueType
FCH 13 98 7.62e-16 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (57/57)
MGI Phenotype PHENOTYPE: Homozygous mutant animals develop osteomyelitis (bone inflammation). Tail kinks are observed starting at 6-8 weeks of age and chronic inflammation of the extremities and ears is subsequently seen. Extramedullary hematopoiesis in the spleen is observed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 119,877,472 (GRCm39) L1040P possibly damaging Het
Acot11 C A 4: 106,612,502 (GRCm39) probably null Het
Aldoart2 C A 12: 55,612,899 (GRCm39) Q275K probably damaging Het
Auts2 T C 5: 131,501,288 (GRCm39) T42A probably damaging Het
Bora C T 14: 99,299,003 (GRCm39) L187F probably damaging Het
Cbln4 A G 2: 171,884,059 (GRCm39) S54P possibly damaging Het
Celsr3 T A 9: 108,721,140 (GRCm39) L2661Q probably damaging Het
Cfap65 T C 1: 74,946,772 (GRCm39) T1313A probably damaging Het
Dbndd2 C A 2: 164,332,225 (GRCm39) probably benign Het
Dennd4a A G 9: 64,746,126 (GRCm39) D4G possibly damaging Het
Dmxl1 T A 18: 50,090,348 (GRCm39) probably benign Het
Dnah7b T C 1: 46,240,478 (GRCm39) C1532R probably damaging Het
Erbb3 A T 10: 128,412,816 (GRCm39) H591Q probably benign Het
Exosc4 T C 15: 76,213,770 (GRCm39) L198P probably damaging Het
F2r A T 13: 95,754,837 (GRCm39) C16S possibly damaging Het
Gtf2h4 A T 17: 35,981,125 (GRCm39) I234N possibly damaging Het
Ift27 A T 15: 78,049,448 (GRCm39) V84D probably damaging Het
Ints10 C T 8: 69,263,256 (GRCm39) A389V probably benign Het
Irs1 TGGGGTGGACATCGAACTGAAGGAG TG 1: 82,265,453 (GRCm39) 913 probably null Het
Klrc2 T A 6: 129,637,471 (GRCm39) T17S possibly damaging Het
Matr3 T A 18: 35,705,428 (GRCm39) S118T probably damaging Het
Mfsd6l C T 11: 68,448,748 (GRCm39) A533V probably benign Het
Msh3 A G 13: 92,402,549 (GRCm39) probably benign Het
Myo5c A G 9: 75,191,434 (GRCm39) M1103V probably benign Het
Niban2 C A 2: 32,812,590 (GRCm39) Y446* probably null Het
Or2y1e T A 11: 49,219,124 (GRCm39) D295E probably benign Het
Or5e1 T C 7: 108,354,612 (GRCm39) L183P probably damaging Het
Or6z3 A T 7: 6,463,753 (GRCm39) M82L probably benign Het
Osbpl3 A T 6: 50,329,764 (GRCm39) D88E possibly damaging Het
Pou1f1 C T 16: 65,328,728 (GRCm39) T149I probably damaging Het
Ppp1r12b G T 1: 134,883,471 (GRCm39) A17E probably benign Het
Rcor1 A G 12: 111,063,986 (GRCm39) D95G probably damaging Het
Rttn T C 18: 89,119,809 (GRCm39) L1748P probably damaging Het
Slco2a1 A G 9: 102,963,031 (GRCm39) K629E possibly damaging Het
Smarcc1 A G 9: 109,964,696 (GRCm39) probably benign Het
Son A G 16: 91,472,397 (GRCm39) K360E probably benign Het
Stab1 A T 14: 30,865,629 (GRCm39) M1753K probably benign Het
Syne2 A G 12: 76,026,593 (GRCm39) I3474V probably damaging Het
Tmem63c A T 12: 87,133,192 (GRCm39) T736S possibly damaging Het
Tmpo G A 10: 90,998,503 (GRCm39) P428L possibly damaging Het
Tmprss11a G T 5: 86,570,432 (GRCm39) Q176K probably damaging Het
Trappc4 A G 9: 44,315,322 (GRCm39) S219P probably damaging Het
Vmn2r117 G T 17: 23,696,859 (GRCm39) P183T probably damaging Het
Vmn2r54 C T 7: 12,363,598 (GRCm39) V432I probably benign Het
Vtcn1 G A 3: 100,799,909 (GRCm39) G257R probably benign Het
Yipf1 T A 4: 107,202,288 (GRCm39) M217K possibly damaging Het
Zfc3h1 T C 10: 115,236,647 (GRCm39) S374P probably benign Het
Zfp407 T C 18: 84,577,828 (GRCm39) H1095R probably benign Het
Zfp661 A T 2: 127,420,564 (GRCm39) H78Q probably benign Het
Zfp957 T C 14: 79,450,849 (GRCm39) T317A unknown Het
Zfyve9 T A 4: 108,584,688 (GRCm39) probably null Het
Other mutations in Pstpip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Pstpip2 APN 18 77,961,994 (GRCm39) missense probably benign 0.00
IGL00264:Pstpip2 APN 18 77,959,259 (GRCm39) splice site probably benign
IGL01373:Pstpip2 APN 18 77,922,916 (GRCm39) nonsense probably null
IGL01866:Pstpip2 APN 18 77,965,325 (GRCm39) missense probably benign 0.00
IGL02948:Pstpip2 APN 18 77,942,507 (GRCm39) missense probably benign 0.00
R1853:Pstpip2 UTSW 18 77,959,499 (GRCm39) missense probably damaging 1.00
R1854:Pstpip2 UTSW 18 77,959,499 (GRCm39) missense probably damaging 1.00
R1916:Pstpip2 UTSW 18 77,922,892 (GRCm39) missense probably damaging 0.99
R2402:Pstpip2 UTSW 18 77,942,564 (GRCm39) missense possibly damaging 0.82
R2927:Pstpip2 UTSW 18 77,949,589 (GRCm39) missense probably damaging 0.99
R3103:Pstpip2 UTSW 18 77,959,477 (GRCm39) missense probably damaging 0.99
R4276:Pstpip2 UTSW 18 77,949,556 (GRCm39) missense probably benign
R5222:Pstpip2 UTSW 18 77,962,032 (GRCm39) nonsense probably null
R5361:Pstpip2 UTSW 18 77,958,078 (GRCm39) missense probably damaging 0.99
R6397:Pstpip2 UTSW 18 77,961,079 (GRCm39) missense probably benign 0.10
R7538:Pstpip2 UTSW 18 77,959,305 (GRCm39) missense probably damaging 1.00
R7854:Pstpip2 UTSW 18 77,962,004 (GRCm39) missense probably benign
R7885:Pstpip2 UTSW 18 77,882,422 (GRCm39) missense probably benign
R7982:Pstpip2 UTSW 18 77,967,073 (GRCm39) missense probably benign 0.06
R8755:Pstpip2 UTSW 18 77,961,133 (GRCm39) missense probably damaging 1.00
R8865:Pstpip2 UTSW 18 77,934,108 (GRCm39) missense possibly damaging 0.95
R9179:Pstpip2 UTSW 18 77,961,155 (GRCm39) missense possibly damaging 0.48
X0065:Pstpip2 UTSW 18 77,967,061 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- ATGGGACTTGGCATAGAGTTTC -3'
(R):5'- CCCAGTATGAACACAGCAGG -3'

Sequencing Primer
(F):5'- GGCATAGAGTTTCTTAGTTCTAATCC -3'
(R):5'- CGGTCTCAAAAGCGATGGCATC -3'
Posted On 2016-03-17