Incidental Mutation 'IGL00087:Pstpip2'
ID 729
Institutional Source Australian Phenomics Network (link to record)
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 # IGL00087
Quality Score
Status
Chromosome 18
Chromosomal Location 77882250-77971462 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77961994 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 255 (S255G)
Ref Sequence ENSEMBL: ENSMUSP00000110389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114741]
AlphaFold Q99M15
Predicted Effect probably benign
Transcript: ENSMUST00000114741
AA Change: S255G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000110389
Gene: ENSMUSG00000025429
AA Change: S255G

DomainStartEndE-ValueType
FCH 13 98 7.62e-16 SMART
Coding Region Coverage
Validation Efficiency
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
4930432M17Rik C A 3: 121,473,282 (GRCm39) probably benign Het
Actr2 C A 11: 20,044,370 (GRCm39) V79L probably benign Het
Ankrd36 A C 11: 5,570,131 (GRCm39) Y533S probably benign Het
Btnl1 A T 17: 34,600,091 (GRCm39) D198V probably damaging Het
Carmil2 T A 8: 106,418,038 (GRCm39) I684N probably benign Het
Cdk17 T A 10: 93,062,633 (GRCm39) V257D probably damaging Het
Ctsj T G 13: 61,149,232 (GRCm39) S271R possibly damaging Het
Cul9 T A 17: 46,836,635 (GRCm39) Q1130L probably damaging Het
Daam1 G T 12: 71,988,993 (GRCm39) S131I unknown Het
Dab1 G A 4: 104,536,007 (GRCm39) V139M probably damaging Het
Dab1 A T 4: 104,535,950 (GRCm39) I120F possibly damaging Het
Dnah2 A G 11: 69,383,498 (GRCm39) V1142A possibly damaging Het
Dsg1b C T 18: 20,529,533 (GRCm39) T326I probably damaging Het
Eif3k A C 7: 28,674,101 (GRCm39) probably benign Het
Fam76b T C 9: 13,748,180 (GRCm39) V3A possibly damaging Het
Fitm2 A G 2: 163,311,712 (GRCm39) V167A probably benign Het
Gfap T A 11: 102,779,544 (GRCm39) I418F possibly damaging Het
Grm5 T C 7: 87,779,989 (GRCm39) V1143A probably benign Het
Itpr2 A G 6: 146,298,510 (GRCm39) I317T probably damaging Het
Itprid1 T A 6: 55,945,022 (GRCm39) L581Q possibly damaging Het
Kcnn2 A C 18: 45,725,303 (GRCm39) R266S probably damaging Het
Kntc1 T A 5: 123,928,222 (GRCm39) S1240T probably benign Het
Lmnb2 T C 10: 80,739,871 (GRCm39) D490G possibly damaging Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Or3a1b A T 11: 74,012,705 (GRCm39) I197F probably benign Het
Pax9 A G 12: 56,746,860 (GRCm39) N232S probably benign Het
Pdcd6ip A G 9: 113,526,586 (GRCm39) S108P possibly damaging Het
Pitpnc1 T C 11: 107,103,469 (GRCm39) E210G possibly damaging Het
Prdm10 T C 9: 31,272,108 (GRCm39) probably benign Het
Prl4a1 G A 13: 28,205,443 (GRCm39) G136E probably damaging Het
Rimbp3 T G 16: 17,027,607 (GRCm39) S344A probably benign Het
Rint1 A G 5: 23,999,429 (GRCm39) T73A probably benign Het
Rnf145 T C 11: 44,446,039 (GRCm39) V291A possibly damaging Het
Rrm1 T A 7: 102,103,714 (GRCm39) L221* probably null Het
Scn11a A G 9: 119,599,572 (GRCm39) L1114P probably benign Het
Slc44a4 A G 17: 35,149,216 (GRCm39) probably benign Het
Sorl1 A C 9: 41,885,390 (GRCm39) N2070K probably damaging Het
Spaca7 C T 8: 12,630,941 (GRCm39) probably benign Het
Speer1k C T 5: 10,997,805 (GRCm39) probably benign Het
Speer4c2 C A 5: 15,861,884 (GRCm39) probably benign Het
Srsf6 G T 2: 162,773,627 (GRCm39) V13F probably damaging Het
Stab1 G T 14: 30,883,314 (GRCm39) T336N probably benign Het
Strbp A G 2: 37,476,516 (GRCm39) probably benign Het
Tbc1d4 A G 14: 101,845,548 (GRCm39) F117L probably damaging Het
Tcf20 A G 15: 82,739,096 (GRCm39) V785A probably damaging Het
Ticrr A G 7: 79,327,031 (GRCm39) K580E probably damaging Het
Ubr4 A T 4: 139,192,633 (GRCm39) E4225D possibly damaging Het
Uck1 A T 2: 32,149,681 (GRCm39) V66D probably damaging Het
Vmn2r25 A G 6: 123,830,130 (GRCm39) F7S probably benign Het
Zan C T 5: 137,386,082 (GRCm39) probably null Het
Zfp819 T A 7: 43,261,403 (GRCm39) probably benign Het
Other mutations in Pstpip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R4881:Pstpip2 UTSW 18 77,962,032 (GRCm39) nonsense probably null
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
Posted On 2011-07-12