Incidental Mutation 'IGL01557:Ptpn5'
ID90744
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptpn5
Ensembl Gene ENSMUSG00000030854
Gene Nameprotein tyrosine phosphatase, non-receptor type 5
SynonymsStep
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01557
Quality Score
Status
Chromosome7
Chromosomal Location47077795-47133684 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 47081888 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 411 (Y411C)
Ref Sequence ENSEMBL: ENSMUSP00000099686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033142] [ENSMUST00000102626]
Predicted Effect probably damaging
Transcript: ENSMUST00000033142
AA Change: Y411C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033142
Gene: ENSMUSG00000030854
AA Change: Y411C

DomainStartEndE-ValueType
low complexity region 26 51 N/A INTRINSIC
low complexity region 121 138 N/A INTRINSIC
low complexity region 141 155 N/A INTRINSIC
PTPc 275 533 2.39e-115 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102626
AA Change: Y411C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099686
Gene: ENSMUSG00000030854
AA Change: Y411C

DomainStartEndE-ValueType
low complexity region 26 51 N/A INTRINSIC
low complexity region 121 138 N/A INTRINSIC
low complexity region 141 155 N/A INTRINSIC
PTPc 275 533 2.39e-115 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183776
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207172
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208324
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208531
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209161
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit normal brain development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 T A 18: 58,968,720 probably null Het
Arl9 T G 5: 77,004,101 probably null Het
Ces3a C A 8: 105,057,751 T439K probably damaging Het
Cyp3a25 A G 5: 145,984,901 W408R probably damaging Het
Defb22 T G 2: 152,486,079 D62A possibly damaging Het
Dnah17 C T 11: 118,073,686 R2422Q probably damaging Het
Ehd3 A G 17: 73,805,280 K13R probably benign Het
Fndc1 T C 17: 7,756,389 E1406G probably damaging Het
Gak A C 5: 108,584,337 Y762D probably damaging Het
Igf2r A G 17: 12,704,635 S1187P possibly damaging Het
Ighmbp2 T C 19: 3,281,472 E68G probably benign Het
Itpr2 T C 6: 146,158,976 T2448A probably damaging Het
Lrrk2 T G 15: 91,699,989 C317W probably damaging Het
Morc1 T A 16: 48,498,766 S278T probably damaging Het
Mrps9 T C 1: 42,851,350 V20A probably benign Het
Nutm1 A T 2: 112,251,818 N304K probably benign Het
Olfr761 G A 17: 37,952,851 P58S probably damaging Het
Pcdhb9 T C 18: 37,403,047 V698A probably damaging Het
Pitrm1 C A 13: 6,552,684 D70E probably benign Het
Pkhd1 T C 1: 20,116,979 T3702A possibly damaging Het
Ppm1h A T 10: 122,782,181 probably null Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Spon2 G A 5: 33,216,703 A112V probably damaging Het
Zfp648 T A 1: 154,204,680 V195D probably benign Het
Other mutations in Ptpn5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01508:Ptpn5 APN 7 47091555 missense probably benign 0.00
IGL01691:Ptpn5 APN 7 47083158 missense probably benign 0.27
IGL02051:Ptpn5 APN 7 47082759 critical splice donor site probably null
PIT4696001:Ptpn5 UTSW 7 47088606 missense probably benign
R0309:Ptpn5 UTSW 7 47079294 missense probably damaging 0.97
R0325:Ptpn5 UTSW 7 47090758 missense probably benign
R0325:Ptpn5 UTSW 7 47090759 missense probably benign
R0414:Ptpn5 UTSW 7 47083136 missense probably benign
R0570:Ptpn5 UTSW 7 47078933 splice site probably benign
R0885:Ptpn5 UTSW 7 47088611 missense probably benign 0.08
R1311:Ptpn5 UTSW 7 47079232 splice site probably benign
R1501:Ptpn5 UTSW 7 47089875 missense probably benign 0.26
R1772:Ptpn5 UTSW 7 47090768 missense probably benign 0.00
R1815:Ptpn5 UTSW 7 47078841 missense probably benign
R1913:Ptpn5 UTSW 7 47078868 missense possibly damaging 0.92
R2109:Ptpn5 UTSW 7 47086059 missense probably damaging 0.99
R2112:Ptpn5 UTSW 7 47083142 missense probably benign 0.00
R2184:Ptpn5 UTSW 7 47088602 missense probably damaging 0.99
R4244:Ptpn5 UTSW 7 47091548 nonsense probably null
R4551:Ptpn5 UTSW 7 47090852 intron probably benign
R5353:Ptpn5 UTSW 7 47081894 missense probably benign 0.03
R5897:Ptpn5 UTSW 7 47079514 missense probably benign 0.41
R6442:Ptpn5 UTSW 7 47083083 splice site probably null
R7549:Ptpn5 UTSW 7 47086126 critical splice acceptor site probably null
Posted On2013-12-09