Incidental Mutation 'R4062:Ptpn18'
ID 315885
Institutional Source Beutler Lab
Gene Symbol Ptpn18
Ensembl Gene ENSMUSG00000026126
Gene Name protein tyrosine phosphatase, non-receptor type 18
Synonyms Ptpk1, PTP-HSCF, FLP1, HSCF, PTP-K1
MMRRC Submission 040971-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R4062 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 34498843-34514814 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34512011 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 45 (H45L)
Ref Sequence ENSEMBL: ENSMUSP00000140436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027302] [ENSMUST00000188972] [ENSMUST00000190122]
AlphaFold Q61152
Predicted Effect probably benign
Transcript: ENSMUST00000027302
AA Change: H394L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000027302
Gene: ENSMUSG00000026126
AA Change: H394L

PTPc 25 293 7.77e-115 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185218
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185881
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188019
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188292
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188884
Predicted Effect possibly damaging
Transcript: ENSMUST00000188972
AA Change: H45L

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191357
Predicted Effect probably benign
Transcript: ENSMUST00000190122
SMART Domains Protein: ENSMUSP00000139885
Gene: ENSMUSG00000026126

PTPc 2 269 9.1e-113 SMART
Meta Mutation Damage Score 0.1225 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.8%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik A T 1: 53,197,928 (GRCm39) L140Q probably damaging Het
Adam17 T C 12: 21,375,458 (GRCm39) D787G probably damaging Het
Adamtsl4 T C 3: 95,584,864 (GRCm39) K935E probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Bnip3l T C 14: 67,246,187 (GRCm39) N16S possibly damaging Het
Cd320 T A 17: 34,066,491 (GRCm39) N90K probably benign Het
Cdc40 A T 10: 40,725,848 (GRCm39) probably null Het
Clec4b1 C A 6: 123,045,443 (GRCm39) H55N probably benign Het
Cyp4a10 A T 4: 115,376,898 (GRCm39) R87S probably benign Het
Duoxa2 G T 2: 122,131,058 (GRCm39) S73I probably damaging Het
Dytn A G 1: 63,686,606 (GRCm39) C355R probably benign Het
Emilin3 T C 2: 160,749,716 (GRCm39) T631A probably benign Het
Ep400 A T 5: 110,889,847 (GRCm39) M472K probably benign Het
Erap1 G T 13: 74,811,655 (GRCm39) M338I probably benign Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fanca T C 8: 124,001,911 (GRCm39) T1061A probably benign Het
Fat1 A T 8: 45,478,518 (GRCm39) E2521D probably benign Het
Gcdh T C 8: 85,619,082 (GRCm39) I152V probably damaging Het
Gls T C 1: 52,235,907 (GRCm39) K403E probably damaging Het
Gorasp2 T C 2: 70,509,857 (GRCm39) C173R probably damaging Het
Greb1l G A 18: 10,522,150 (GRCm39) V749I probably damaging Het
Hnrnpll T C 17: 80,340,201 (GRCm39) H526R probably benign Het
Il18r1 G A 1: 40,514,096 (GRCm39) V101I probably benign Het
Incenp A T 19: 9,861,142 (GRCm39) M480K unknown Het
Isl1 T A 13: 116,439,626 (GRCm39) I241F probably benign Het
Kdm6a A G X: 18,117,114 (GRCm39) T266A probably benign Het
Lcp1 T C 14: 75,452,620 (GRCm39) V442A probably damaging Het
Mast3 A G 8: 71,233,838 (GRCm39) V969A probably damaging Het
Mbnl1 T C 3: 60,511,176 (GRCm39) L136P probably damaging Het
Mrps24 G A 11: 5,654,676 (GRCm39) R93* probably null Het
Nkd2 C T 13: 73,970,809 (GRCm39) G258R probably null Het
Obscn T C 11: 58,973,536 (GRCm39) T1932A probably damaging Het
Otop2 G A 11: 115,220,201 (GRCm39) G347D probably damaging Het
Rab3il1 T C 19: 10,003,988 (GRCm39) S36P probably benign Het
Rims1 G T 1: 22,572,664 (GRCm39) N512K probably benign Het
Rinl T C 7: 28,490,140 (GRCm39) Y60H probably benign Het
Scamp2 G T 9: 57,484,545 (GRCm39) probably null Het
Septin9 T C 11: 117,243,091 (GRCm39) S324P probably damaging Het
Sh3pxd2b G T 11: 32,372,263 (GRCm39) A477S probably benign Het
Soat2 A G 15: 102,069,526 (GRCm39) T396A possibly damaging Het
Tenm2 C T 11: 35,899,482 (GRCm39) G2559S probably damaging Het
Tpcn1 G A 5: 120,695,962 (GRCm39) A97V possibly damaging Het
Trdn A G 10: 33,133,083 (GRCm39) E311G probably benign Het
Usp13 T C 3: 32,935,572 (GRCm39) Y333H probably damaging Het
Usp18 A G 6: 121,238,326 (GRCm39) T158A probably benign Het
Vmn1r118 G T 7: 20,645,933 (GRCm39) Q114K probably damaging Het
Wwp1 A T 4: 19,638,644 (GRCm39) N566K possibly damaging Het
Zfp292 A G 4: 34,810,863 (GRCm39) V727A probably damaging Het
Other mutations in Ptpn18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00488:Ptpn18 APN 1 34,502,200 (GRCm39) missense probably damaging 0.98
IGL01611:Ptpn18 APN 1 34,498,898 (GRCm39) utr 5 prime probably benign
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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-05-15