Incidental Mutation 'R9657:Ptpn18'
ID 727355
Institutional Source Beutler Lab
Gene Symbol Ptpn18
Ensembl Gene ENSMUSG00000026126
Gene Name protein tyrosine phosphatase, non-receptor type 18
Synonyms PTP-K1, FLP1, PTP-HSCF, HSCF, Ptpk1
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # R9657 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 34459762-34475733 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 34473392 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 426 (A426E)
Ref Sequence ENSEMBL: ENSMUSP00000027302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027302] [ENSMUST00000188972] [ENSMUST00000190122]
AlphaFold Q61152
Predicted Effect possibly damaging
Transcript: ENSMUST00000027302
AA Change: A426E

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000027302
Gene: ENSMUSG00000026126
AA Change: A426E

DomainStartEndE-ValueType
PTPc 25 293 7.77e-115 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000188972
AA Change: A77E

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000190122
SMART Domains Protein: ENSMUSP00000139885
Gene: ENSMUSG00000026126

DomainStartEndE-ValueType
PTPc 2 269 9.1e-113 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,293,379 D1747E probably benign Het
Acad11 T A 9: 104,075,836 I88N possibly damaging Het
Atp2b4 T C 1: 133,728,740 E724G probably damaging Het
Bcl2a1b T C 9: 89,199,546 S63P probably damaging Het
Blzf1 T C 1: 164,306,454 S9G probably benign Het
Ccdc121 T C 1: 181,510,539 T283A probably benign Het
Ccdc130 T C 8: 84,260,455 K138E possibly damaging Het
Cdh22 T C 2: 165,123,795 D488G probably benign Het
Cep290 A G 10: 100,515,141 E688G possibly damaging Het
Cldn10 A C 14: 118,788,369 E71D probably benign Het
Clip2 C T 5: 134,504,762 R487Q probably benign Het
Cyp3a16 T C 5: 145,450,169 D337G probably null Het
D430042O09Rik A G 7: 125,842,784 S648G probably benign Het
Dnah5 A T 15: 28,409,943 D3654V probably damaging Het
Dock1 T C 7: 134,737,700 S100P possibly damaging Het
Gm35339 A G 15: 76,361,276 Y1271C Het
Hdgfl2 T C 17: 56,098,978 V488A unknown Het
Itih2 T C 2: 10,102,875 T627A probably damaging Het
Klhl33 T C 14: 50,896,660 D144G probably benign Het
Lca5l G A 16: 96,173,753 Q324* probably null Het
Mcm5 C T 8: 75,117,540 S313F probably benign Het
Mical2 A G 7: 112,322,599 T542A probably benign Het
Moxd1 T A 10: 24,252,587 V179E probably benign Het
Myh7b A G 2: 155,614,043 Y116C probably damaging Het
Myoc C T 1: 162,639,660 R133* probably null Het
Nol3 A T 8: 105,279,009 I12F probably damaging Het
Nrap A G 19: 56,363,945 V605A probably benign Het
Olfr1136 T C 2: 87,693,777 Y35C probably damaging Het
Olfr1158 A C 2: 87,990,966 N285T probably damaging Het
Pag1 G T 3: 9,704,731 S52R probably damaging Het
Pbxip1 A G 3: 89,447,749 D525G probably benign Het
Pla2g4f A G 2: 120,304,657 F437L probably benign Het
Podn A C 4: 108,027,034 I86S probably damaging Het
Postn A G 3: 54,383,399 T676A probably benign Het
Ppp1r1c A G 2: 79,808,374 E104G probably benign Het
Prss53 T C 7: 127,887,066 T436A probably damaging Het
Psme4 A T 11: 30,838,980 E1127D probably benign Het
Ptprz1 T G 6: 23,042,378 C2044G possibly damaging Het
Rad54l2 C A 9: 106,704,173 V850L probably damaging Het
Ranbp9 A G 13: 43,403,679 I28T unknown Het
Rapgef2 A T 3: 79,091,884 V527E probably damaging Het
Rere C A 4: 150,614,933 P825T unknown Het
Rundc3a A G 11: 102,400,752 T349A probably benign Het
Scn2a T C 2: 65,735,688 F1352S probably damaging Het
Senp7 T A 16: 56,123,932 C206* probably null Het
Serac1 C T 17: 6,069,383 V91I probably benign Het
Serpina1f G A 12: 103,689,791 Q393* probably null Het
Slc8a1 T C 17: 81,647,815 E598G probably damaging Het
Slmap A T 14: 26,429,858 H518Q probably benign Het
Spg11 G A 2: 122,080,300 R1199C probably damaging Het
Tada1 T C 1: 166,386,743 S104P possibly damaging Het
Tbck A G 3: 132,715,690 D186G probably damaging Het
Tdrd9 A C 12: 112,036,390 R824S possibly damaging Het
Tmem161a T C 8: 70,177,610 probably null Het
Trim55 G A 3: 19,674,507 G494D possibly damaging Het
Ttc17 T A 2: 94,406,665 M1L probably benign Het
Ttn C T 2: 76,885,013 E7912K unknown Het
Ugt3a1 A C 15: 9,280,047 S32R probably damaging Het
Vgll3 T C 16: 65,839,457 S220P probably benign Het
Virma A G 4: 11,544,898 E1569G probably damaging Het
Vmn1r54 C G 6: 90,270,002 F299L probably benign Het
Vmn2r114 A G 17: 23,291,716 S597P probably damaging Het
Wdr7 A G 18: 63,924,847 D1249G probably damaging Het
Ypel4 A G 2: 84,737,724 Y108C probably damaging Het
Zfp770 A G 2: 114,197,285 V101A probably damaging Het
Zfyve9 A T 4: 108,718,532 C451S probably damaging Het
Other mutations in Ptpn18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00488:Ptpn18 APN 1 34463119 missense probably damaging 0.98
IGL01611:Ptpn18 APN 1 34459817 utr 5 prime probably benign
IGL01633:Ptpn18 APN 1 34471908 missense probably benign 0.03
IGL03379:Ptpn18 APN 1 34470257 splice site probably null
R0848:Ptpn18 UTSW 1 34462702 missense probably damaging 1.00
R1400:Ptpn18 UTSW 1 34463506 critical splice donor site probably null
R1973:Ptpn18 UTSW 1 34463109 missense probably damaging 1.00
R2040:Ptpn18 UTSW 1 34470219 missense probably damaging 0.99
R2113:Ptpn18 UTSW 1 34471661 missense probably damaging 1.00
R2963:Ptpn18 UTSW 1 34471692 nonsense probably null
R4061:Ptpn18 UTSW 1 34472930 missense possibly damaging 0.66
R4062:Ptpn18 UTSW 1 34472930 missense possibly damaging 0.66
R4509:Ptpn18 UTSW 1 34462742 missense possibly damaging 0.49
R4522:Ptpn18 UTSW 1 34472960 missense probably benign
R4626:Ptpn18 UTSW 1 34471792 splice site probably null
R4978:Ptpn18 UTSW 1 34469813 intron probably benign
R5260:Ptpn18 UTSW 1 34463510 splice site probably benign
R5335:Ptpn18 UTSW 1 34463178 missense probably damaging 1.00
R5481:Ptpn18 UTSW 1 34471663 missense possibly damaging 0.67
R5865:Ptpn18 UTSW 1 34471563 splice site probably benign
R7038:Ptpn18 UTSW 1 34459825 start codon destroyed probably null 1.00
R7225:Ptpn18 UTSW 1 34472846 missense possibly damaging 0.58
R7290:Ptpn18 UTSW 1 34462811 critical splice donor site probably null
R7411:Ptpn18 UTSW 1 34472192 critical splice donor site probably null
R7434:Ptpn18 UTSW 1 34473364 missense possibly damaging 0.75
R7441:Ptpn18 UTSW 1 34473335 missense probably benign 0.00
R7442:Ptpn18 UTSW 1 34462750 missense probably benign 0.02
R7462:Ptpn18 UTSW 1 34473364 missense possibly damaging 0.75
R7463:Ptpn18 UTSW 1 34473364 missense possibly damaging 0.75
R7464:Ptpn18 UTSW 1 34473364 missense possibly damaging 0.75
R7465:Ptpn18 UTSW 1 34473364 missense possibly damaging 0.75
R7535:Ptpn18 UTSW 1 34473364 missense possibly damaging 0.75
R7537:Ptpn18 UTSW 1 34473364 missense possibly damaging 0.75
R7678:Ptpn18 UTSW 1 34473364 missense possibly damaging 0.75
R7689:Ptpn18 UTSW 1 34473364 missense possibly damaging 0.75
R7899:Ptpn18 UTSW 1 34469905 splice site probably null
R8543:Ptpn18 UTSW 1 34472148 missense probably benign 0.00
R8821:Ptpn18 UTSW 1 34472190 missense probably null 1.00
R8831:Ptpn18 UTSW 1 34472190 missense probably null 1.00
R8858:Ptpn18 UTSW 1 34463115 missense possibly damaging 0.88
R8879:Ptpn18 UTSW 1 34463130 missense probably benign 0.23
R8924:Ptpn18 UTSW 1 34459885 missense probably benign 0.02
X0065:Ptpn18 UTSW 1 34469891 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGACAGACCTCCGAACTTGG -3'
(R):5'- GCGCAAGTTGAAGCCTAAG -3'

Sequencing Primer
(F):5'- AACTTGGACACGCCCATGG -3'
(R):5'- CCTAAGGGAAGAAGGGCTCC -3'
Posted On 2022-10-06