Incidental Mutation 'IGL01611:Ptpn18'
ID 92126
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptpn18
Ensembl Gene ENSMUSG00000026126
Gene Name protein tyrosine phosphatase, non-receptor type 18
Synonyms Ptpk1, PTP-HSCF, FLP1, HSCF, PTP-K1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # IGL01611
Quality Score
Status
Chromosome 1
Chromosomal Location 34498843-34514814 bp(+) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) T to C at 34498898 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139885 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027302] [ENSMUST00000190122]
AlphaFold Q61152
Predicted Effect probably benign
Transcript: ENSMUST00000027302
SMART Domains Protein: ENSMUSP00000027302
Gene: ENSMUSG00000026126

DomainStartEndE-ValueType
PTPc 25 293 7.77e-115 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185610
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186252
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188884
Predicted Effect probably benign
Transcript: ENSMUST00000190122
SMART Domains Protein: ENSMUSP00000139885
Gene: ENSMUSG00000026126

DomainStartEndE-ValueType
PTPc 2 269 9.1e-113 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, the mitotic cycle, and oncogenic transformation. This PTP contains a PEST motif, which often serves as a protein-protein interaction domain, and may be related to protein intracellular half-live. This protein can differentially dephosphorylate autophosphorylated tyrosine kinases that are overexpressed in tumor tissues, and it appears to regulate HER2, a member of the epidermal growth factor receptor family of receptor tyrosine kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A G 12: 72,954,644 (GRCm39) L209S possibly damaging Het
Abcc2 G T 19: 43,815,068 (GRCm39) V1152F probably damaging Het
Adam9 C T 8: 25,457,212 (GRCm39) V639I probably benign Het
Cdc6 A G 11: 98,805,989 (GRCm39) I388V probably benign Het
Chrm5 C T 2: 112,310,651 (GRCm39) W155* probably null Het
Chrna9 A G 5: 66,128,287 (GRCm39) D161G probably damaging Het
Det1 A G 7: 78,477,702 (GRCm39) V541A possibly damaging Het
Efhc1 G T 1: 21,060,911 (GRCm39) *649L probably null Het
Ehbp1 C T 11: 22,122,883 (GRCm39) V146M probably damaging Het
Enam A C 5: 88,651,608 (GRCm39) D1039A probably damaging Het
Fam20b A T 1: 156,530,035 (GRCm39) V133E probably benign Het
Frem2 T A 3: 53,563,130 (GRCm39) Q459L probably benign Het
Gapdhs C T 7: 30,429,866 (GRCm39) probably benign Het
Gm3404 T A 5: 146,465,157 (GRCm39) V299D possibly damaging Het
Gorasp2 C A 2: 70,519,604 (GRCm39) H310N possibly damaging Het
Gpr157 T C 4: 150,186,094 (GRCm39) S219P possibly damaging Het
Gpt2 T A 8: 86,246,167 (GRCm39) C375* probably null Het
Gtf2h3 T C 5: 124,733,748 (GRCm39) S274P probably damaging Het
Hmg20b C T 10: 81,183,309 (GRCm39) V83M probably benign Het
Igf2r G T 17: 12,944,302 (GRCm39) Y400* probably null Het
Ipo9 A T 1: 135,314,431 (GRCm39) W942R possibly damaging Het
Iqch T C 9: 63,403,519 (GRCm39) probably null Het
Kcnh3 T C 15: 99,127,383 (GRCm39) L393P probably benign Het
Kcnk12 T A 17: 88,104,495 (GRCm39) I130L probably benign Het
Lcorl T C 5: 45,904,434 (GRCm39) T205A probably damaging Het
Lpar6 G T 14: 73,476,878 (GRCm39) A280S probably damaging Het
Mgarp A T 3: 51,296,570 (GRCm39) V152E probably damaging Het
Pard3b A G 1: 62,677,021 (GRCm39) D1184G probably damaging Het
Pcnt A G 10: 76,272,258 (GRCm39) probably null Het
Pde6b A G 5: 108,551,262 (GRCm39) N182S possibly damaging Het
Pom121 T C 5: 135,412,526 (GRCm39) K516E unknown Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Rapgef5 C T 12: 117,717,154 (GRCm39) probably benign Het
Ryr2 A G 13: 11,606,202 (GRCm39) L4460S possibly damaging Het
Sema6b T C 17: 56,436,969 (GRCm39) probably null Het
Serpinb6d T A 13: 33,850,375 (GRCm39) C67* probably null Het
Sorbs2 T G 8: 46,248,381 (GRCm39) V510G probably null Het
Spic T A 10: 88,511,864 (GRCm39) I131F possibly damaging Het
Spire2 T C 8: 124,086,137 (GRCm39) S290P probably damaging Het
Tas2r117 C T 6: 132,780,447 (GRCm39) S195F probably benign Het
Tas2r117 T C 6: 132,780,450 (GRCm39) V196A probably damaging Het
Tff1 C T 17: 31,381,703 (GRCm39) G58D probably damaging Het
Tmprss11g T C 5: 86,638,640 (GRCm39) T283A probably benign Het
Toporsl T A 4: 52,610,794 (GRCm39) L229H probably damaging Het
Vmn2r80 G A 10: 79,007,488 (GRCm39) G488D probably damaging Het
Vps54 T A 11: 21,261,082 (GRCm39) V583D probably damaging Het
Vwa1 T C 4: 155,855,255 (GRCm39) E286G possibly damaging Het
Vwde A T 6: 13,219,977 (GRCm39) I58N probably damaging Het
Zbtb11 T C 16: 55,800,973 (GRCm39) V109A probably damaging Het
Zfp319 C T 8: 96,055,540 (GRCm39) R221Q probably benign Het
Other mutations in Ptpn18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00488:Ptpn18 APN 1 34,502,200 (GRCm39) missense probably damaging 0.98
IGL01633:Ptpn18 APN 1 34,510,989 (GRCm39) missense probably benign 0.03
IGL03379:Ptpn18 APN 1 34,509,338 (GRCm39) splice site probably null
R0848:Ptpn18 UTSW 1 34,501,783 (GRCm39) missense probably damaging 1.00
R1400:Ptpn18 UTSW 1 34,502,587 (GRCm39) critical splice donor site probably null
R1973:Ptpn18 UTSW 1 34,502,190 (GRCm39) missense probably damaging 1.00
R2040:Ptpn18 UTSW 1 34,509,300 (GRCm39) missense probably damaging 0.99
R2113:Ptpn18 UTSW 1 34,510,742 (GRCm39) missense probably damaging 1.00
R2963:Ptpn18 UTSW 1 34,510,773 (GRCm39) nonsense probably null
R4061:Ptpn18 UTSW 1 34,512,011 (GRCm39) missense possibly damaging 0.66
R4062:Ptpn18 UTSW 1 34,512,011 (GRCm39) missense possibly damaging 0.66
R4509:Ptpn18 UTSW 1 34,501,823 (GRCm39) missense possibly damaging 0.49
R4522:Ptpn18 UTSW 1 34,512,041 (GRCm39) missense probably benign
R4626:Ptpn18 UTSW 1 34,510,873 (GRCm39) splice site probably null
R4978:Ptpn18 UTSW 1 34,508,894 (GRCm39) intron probably benign
R5260:Ptpn18 UTSW 1 34,502,591 (GRCm39) splice site probably benign
R5335:Ptpn18 UTSW 1 34,502,259 (GRCm39) missense probably damaging 1.00
R5481:Ptpn18 UTSW 1 34,510,744 (GRCm39) missense possibly damaging 0.67
R5865:Ptpn18 UTSW 1 34,510,644 (GRCm39) splice site probably benign
R7038:Ptpn18 UTSW 1 34,498,906 (GRCm39) start codon destroyed probably null 1.00
R7225:Ptpn18 UTSW 1 34,511,927 (GRCm39) missense possibly damaging 0.58
R7290:Ptpn18 UTSW 1 34,501,892 (GRCm39) critical splice donor site probably null
R7411:Ptpn18 UTSW 1 34,511,273 (GRCm39) critical splice donor site probably null
R7434:Ptpn18 UTSW 1 34,512,445 (GRCm39) missense possibly damaging 0.75
R7441:Ptpn18 UTSW 1 34,512,416 (GRCm39) missense probably benign 0.00
R7442:Ptpn18 UTSW 1 34,501,831 (GRCm39) missense probably benign 0.02
R7462:Ptpn18 UTSW 1 34,512,445 (GRCm39) missense possibly damaging 0.75
R7463:Ptpn18 UTSW 1 34,512,445 (GRCm39) missense possibly damaging 0.75
R7464:Ptpn18 UTSW 1 34,512,445 (GRCm39) missense possibly damaging 0.75
R7465:Ptpn18 UTSW 1 34,512,445 (GRCm39) missense possibly damaging 0.75
R7535:Ptpn18 UTSW 1 34,512,445 (GRCm39) missense possibly damaging 0.75
R7537:Ptpn18 UTSW 1 34,512,445 (GRCm39) missense possibly damaging 0.75
R7678:Ptpn18 UTSW 1 34,512,445 (GRCm39) missense possibly damaging 0.75
R7689:Ptpn18 UTSW 1 34,512,445 (GRCm39) missense possibly damaging 0.75
R7899:Ptpn18 UTSW 1 34,508,986 (GRCm39) splice site probably null
R8543:Ptpn18 UTSW 1 34,511,229 (GRCm39) missense probably benign 0.00
R8821:Ptpn18 UTSW 1 34,511,271 (GRCm39) missense probably null 1.00
R8831:Ptpn18 UTSW 1 34,511,271 (GRCm39) missense probably null 1.00
R8858:Ptpn18 UTSW 1 34,502,196 (GRCm39) missense possibly damaging 0.88
R8879:Ptpn18 UTSW 1 34,502,211 (GRCm39) missense probably benign 0.23
R8924:Ptpn18 UTSW 1 34,498,966 (GRCm39) missense probably benign 0.02
R9657:Ptpn18 UTSW 1 34,512,473 (GRCm39) missense possibly damaging 0.87
X0065:Ptpn18 UTSW 1 34,508,972 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09