Incidental Mutation 'IGL01373:Pstpip2'
ID84077
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pstpip2
Ensembl Gene ENSMUSG00000025429
Gene Nameproline-serine-threonine phosphatase-interacting protein 2
Synonymscmo
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01373
Quality Score
Status
Chromosome18
Chromosomal Location77794545-77882007 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 77835216 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Stop codon at position 42 (L42*)
Ref Sequence ENSEMBL: ENSMUSP00000110389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114741]
Predicted Effect probably null
Transcript: ENSMUST00000114741
AA Change: L42*
SMART Domains Protein: ENSMUSP00000110389
Gene: ENSMUSG00000025429
AA Change: L42*

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 C T 7: 119,711,419 R510* probably null Het
Adamts12 A T 15: 11,310,730 E1024D probably benign Het
Aff2 T A X: 69,867,729 D1239E possibly damaging Het
Agps T C 2: 75,852,784 V151A probably benign Het
Cables1 A T 18: 11,888,764 R276S probably damaging Het
Cep72 A G 13: 74,059,459 S64P probably damaging Het
Cmah A T 13: 24,430,549 D159V probably damaging Het
Cox6a1 C A 5: 115,345,839 probably benign Het
Cpxm1 T C 2: 130,394,135 E369G probably damaging Het
Dnah6 A G 6: 73,074,748 L3021P probably benign Het
Esyt1 T C 10: 128,518,941 E530G possibly damaging Het
Fancd2 A G 6: 113,553,752 I449V probably benign Het
Fbxw24 C T 9: 109,623,633 G98D probably damaging Het
Folh1 T C 7: 86,746,142 I361V probably benign Het
Gm12666 A G 4: 92,191,625 V42A probably damaging Het
Gpr19 T A 6: 134,870,321 H41L possibly damaging Het
Kcnq4 A G 4: 120,717,032 V143A probably damaging Het
Lmcd1 A G 6: 112,310,625 I91V probably benign Het
Lpin3 G T 2: 160,903,729 D651Y probably damaging Het
Ms4a6b A T 19: 11,529,507 H220L possibly damaging Het
Mxd4 G A 5: 34,184,346 probably benign Het
Nxnl2 T C 13: 51,171,452 F44L probably damaging Het
Olfr698 T C 7: 106,752,446 probably benign Het
Olfr744 T A 14: 50,618,612 I130N probably damaging Het
Pcdhb20 A T 18: 37,506,568 R716W probably benign Het
Pcx T A 19: 4,620,235 probably null Het
Plekhf1 T C 7: 38,221,797 T116A probably benign Het
Psmb2 G T 4: 126,687,092 R93L probably damaging Het
Ptpn22 A T 3: 103,886,204 D557V probably damaging Het
Rbbp5 G A 1: 132,492,601 V191I probably benign Het
Rgs1 T A 1: 144,245,378 D185V probably damaging Het
Selenoh A G 2: 84,670,594 probably benign Het
Slc6a5 C T 7: 49,917,733 P312S probably benign Het
Snapc1 T A 12: 73,964,680 M40K probably benign Het
Sptbn2 T G 19: 4,745,972 Y1726* probably null Het
Syne2 T C 12: 75,987,107 I3710T probably damaging Het
Tdrd9 G A 12: 112,040,434 V911M probably damaging Het
Tex9 A T 9: 72,480,754 D134E possibly damaging Het
Ttc41 G T 10: 86,775,957 C1063F possibly damaging Het
Usp38 C A 8: 80,990,018 A496S possibly damaging Het
Vmn2r13 T A 5: 109,156,702 Y621F probably damaging Het
Vmn2r67 T A 7: 85,136,626 M724L probably benign Het
Other mutations in Pstpip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Pstpip2 APN 18 77874294 missense probably benign 0.00
IGL00264:Pstpip2 APN 18 77871559 splice site probably benign
IGL01866:Pstpip2 APN 18 77877625 missense probably benign 0.00
IGL02948:Pstpip2 APN 18 77854807 missense probably benign 0.00
R1853:Pstpip2 UTSW 18 77871799 missense probably damaging 1.00
R1854:Pstpip2 UTSW 18 77871799 missense probably damaging 1.00
R1916:Pstpip2 UTSW 18 77835192 missense probably damaging 0.99
R2402:Pstpip2 UTSW 18 77854864 missense possibly damaging 0.82
R2927:Pstpip2 UTSW 18 77861889 missense probably damaging 0.99
R3103:Pstpip2 UTSW 18 77871777 missense probably damaging 0.99
R4276:Pstpip2 UTSW 18 77861856 missense probably benign
R4881:Pstpip2 UTSW 18 77874332 nonsense probably null
R5222:Pstpip2 UTSW 18 77874332 nonsense probably null
R5361:Pstpip2 UTSW 18 77870378 missense probably damaging 0.99
R6397:Pstpip2 UTSW 18 77873379 missense probably benign 0.10
R7538:Pstpip2 UTSW 18 77871605 missense probably damaging 1.00
R7854:Pstpip2 UTSW 18 77874304 missense probably benign
R7885:Pstpip2 UTSW 18 77794722 missense probably benign
R7937:Pstpip2 UTSW 18 77874304 missense probably benign
X0065:Pstpip2 UTSW 18 77879361 missense probably benign 0.05
Posted On2013-11-11