Incidental Mutation 'R7225:Ptpn18'
ID 562071
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 045297-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # R7225 (G1)
Quality Score 183.009
Status Validated
Chromosome 1
Chromosomal Location 34459762-34475733 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 34472846 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 366 (T366I)
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: T366I

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027302
Gene: ENSMUSG00000026126
AA Change: T366I

DomainStartEndE-ValueType
PTPc 25 293 7.77e-115 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000188972
AA Change: T17I

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
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: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (62/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik T C 12: 110,670,865 (GRCm38) probably benign Het
5430403G16Rik T C 5: 109,677,149 (GRCm38) H145R possibly damaging Het
5730480H06Rik T A 5: 48,380,233 (GRCm38) probably null Het
Actn4 A T 7: 28,898,699 (GRCm38) V492D probably damaging Het
Alpk2 T C 18: 65,305,199 (GRCm38) E1041G probably benign Het
Asap1 G A 15: 64,130,250 (GRCm38) T404M probably damaging Het
Cd22 C T 7: 30,877,634 (GRCm38) A83T not run Het
Cdan1 T C 2: 120,724,912 (GRCm38) T783A probably benign Het
Cdh9 C T 15: 16,856,073 (GRCm38) S733F probably damaging Het
Cfap54 A G 10: 92,904,374 (GRCm38) F2282S unknown Het
Chst9 T C 18: 15,452,661 (GRCm38) K282E probably damaging Het
Clcn1 G A 6: 42,293,462 (GRCm38) D232N probably damaging Het
Clpb T A 7: 101,711,465 (GRCm38) L234Q probably damaging Het
Cluh T G 11: 74,666,406 (GRCm38) probably null Het
Cnp C T 11: 100,580,587 (GRCm38) Q352* probably null Het
Cyfip1 AGTGT AGT 7: 55,928,189 (GRCm38) probably null Het
Dtx3 C T 10: 127,191,489 (GRCm38) C272Y probably damaging Het
Dync2h1 A G 9: 7,142,756 (GRCm38) I1156T probably benign Het
Epg5 T A 18: 78,012,702 (GRCm38) V1697E probably benign Het
Exoc3l4 A G 12: 111,423,624 (GRCm38) D211G probably benign Het
Fank1 A G 7: 133,853,259 (GRCm38) K36R probably benign Het
Fat4 T C 3: 38,980,176 (GRCm38) I2659T possibly damaging Het
Fer1l5 T C 1: 36,420,952 (GRCm38) W1893R possibly damaging Het
Gorasp2 T A 2: 70,684,047 (GRCm38) L256Q probably damaging Het
Gpc5 T G 14: 115,552,298 (GRCm38) V528G probably damaging Het
Gria2 T A 3: 80,802,631 (GRCm38) probably benign Het
Htatip2 A G 7: 49,770,856 (GRCm38) E150G possibly damaging Het
Jak3 C A 8: 71,685,511 (GRCm38) Q869K probably benign Het
Jmjd1c T C 10: 67,226,065 (GRCm38) V1218A probably benign Het
Kcnf1 A G 12: 17,175,693 (GRCm38) C176R possibly damaging Het
Kcnq4 A G 4: 120,746,914 (GRCm38) V88A probably benign Het
Lmod3 T A 6: 97,247,384 (GRCm38) D492V probably benign Het
Lurap1l A C 4: 80,911,481 (GRCm38) S43R probably benign Het
Mamdc4 T C 2: 25,565,546 (GRCm38) H890R possibly damaging Het
Mertk T G 2: 128,801,562 (GRCm38) N960K possibly damaging Het
Nudt9 C A 5: 104,065,100 (GRCm38) D346E probably benign Het
Olfr1434 A T 19: 12,283,467 (GRCm38) T140S probably benign Het
Opa1 A G 16: 29,614,039 (GRCm38) probably null Het
Oxr1 C T 15: 41,813,608 (GRCm38) P187L not run Het
Paxbp1 T C 16: 91,027,068 (GRCm38) E564G probably damaging Het
Pcdhb13 C T 18: 37,444,437 (GRCm38) R623C possibly damaging Het
Pkhd1l1 G T 15: 44,546,941 (GRCm38) V2615F probably damaging Het
Plin3 T C 17: 56,286,541 (GRCm38) T58A possibly damaging Het
Por A G 5: 135,732,587 (GRCm38) D309G probably benign Het
Ppp2r5e T C 12: 75,468,579 (GRCm38) K261R probably damaging Het
Ptprz1 G A 6: 23,000,929 (GRCm38) G1006E possibly damaging Het
Rnf219 T C 14: 104,479,858 (GRCm38) T360A probably benign Het
Rpl12 C T 2: 32,961,897 (GRCm38) probably benign Het
Rpsa T G 9: 120,131,156 (GRCm38) F262V probably benign Het
Sh3pxd2a G T 19: 47,267,389 (GRCm38) N991K probably damaging Het
Shank2 T A 7: 144,285,025 (GRCm38) N19K probably benign Het
Sik1 T C 17: 31,854,300 (GRCm38) T61A probably benign Het
Sipa1l3 A C 7: 29,399,428 (GRCm38) V472G probably damaging Het
Sirt6 A G 10: 81,622,481 (GRCm38) S313P probably benign Het
Slc12a7 A G 13: 73,763,962 (GRCm38) probably benign Het
Sox13 A T 1: 133,387,124 (GRCm38) V266E probably benign Het
Spag9 T C 11: 94,097,358 (GRCm38) C833R probably damaging Het
Tcof1 T C 18: 60,828,448 (GRCm38) T812A unknown Het
Tnfsf4 A G 1: 161,417,250 (GRCm38) D170G possibly damaging Het
Tshz3 A G 7: 36,769,657 (GRCm38) N357S probably damaging Het
Txk C T 5: 72,700,714 (GRCm38) D418N probably damaging Het
Ube2j2 A G 4: 155,949,316 (GRCm38) probably null Het
Vmn2r84 G A 10: 130,386,683 (GRCm38) P556L probably damaging Het
Zfp442 T C 2: 150,409,005 (GRCm38) N326D probably benign Het
Other mutations in Ptpn18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00488:Ptpn18 APN 1 34,463,119 (GRCm38) missense probably damaging 0.98
IGL01611:Ptpn18 APN 1 34,459,817 (GRCm38) utr 5 prime probably benign
IGL01633:Ptpn18 APN 1 34,471,908 (GRCm38) missense probably benign 0.03
IGL03379:Ptpn18 APN 1 34,470,257 (GRCm38) splice site probably null
R0848:Ptpn18 UTSW 1 34,462,702 (GRCm38) missense probably damaging 1.00
R1400:Ptpn18 UTSW 1 34,463,506 (GRCm38) critical splice donor site probably null
R1973:Ptpn18 UTSW 1 34,463,109 (GRCm38) missense probably damaging 1.00
R2040:Ptpn18 UTSW 1 34,470,219 (GRCm38) missense probably damaging 0.99
R2113:Ptpn18 UTSW 1 34,471,661 (GRCm38) missense probably damaging 1.00
R2963:Ptpn18 UTSW 1 34,471,692 (GRCm38) nonsense probably null
R4061:Ptpn18 UTSW 1 34,472,930 (GRCm38) missense possibly damaging 0.66
R4062:Ptpn18 UTSW 1 34,472,930 (GRCm38) missense possibly damaging 0.66
R4509:Ptpn18 UTSW 1 34,462,742 (GRCm38) missense possibly damaging 0.49
R4522:Ptpn18 UTSW 1 34,472,960 (GRCm38) missense probably benign
R4626:Ptpn18 UTSW 1 34,471,792 (GRCm38) splice site probably null
R4978:Ptpn18 UTSW 1 34,469,813 (GRCm38) intron probably benign
R5260:Ptpn18 UTSW 1 34,463,510 (GRCm38) splice site probably benign
R5335:Ptpn18 UTSW 1 34,463,178 (GRCm38) missense probably damaging 1.00
R5481:Ptpn18 UTSW 1 34,471,663 (GRCm38) missense possibly damaging 0.67
R5865:Ptpn18 UTSW 1 34,471,563 (GRCm38) splice site probably benign
R7038:Ptpn18 UTSW 1 34,459,825 (GRCm38) start codon destroyed probably null 1.00
R7290:Ptpn18 UTSW 1 34,462,811 (GRCm38) critical splice donor site probably null
R7411:Ptpn18 UTSW 1 34,472,192 (GRCm38) critical splice donor site probably null
R7434:Ptpn18 UTSW 1 34,473,364 (GRCm38) missense possibly damaging 0.75
R7441:Ptpn18 UTSW 1 34,473,335 (GRCm38) missense probably benign 0.00
R7442:Ptpn18 UTSW 1 34,462,750 (GRCm38) missense probably benign 0.02
R7462:Ptpn18 UTSW 1 34,473,364 (GRCm38) missense possibly damaging 0.75
R7463:Ptpn18 UTSW 1 34,473,364 (GRCm38) missense possibly damaging 0.75
R7464:Ptpn18 UTSW 1 34,473,364 (GRCm38) missense possibly damaging 0.75
R7465:Ptpn18 UTSW 1 34,473,364 (GRCm38) missense possibly damaging 0.75
R7535:Ptpn18 UTSW 1 34,473,364 (GRCm38) missense possibly damaging 0.75
R7537:Ptpn18 UTSW 1 34,473,364 (GRCm38) missense possibly damaging 0.75
R7678:Ptpn18 UTSW 1 34,473,364 (GRCm38) missense possibly damaging 0.75
R7689:Ptpn18 UTSW 1 34,473,364 (GRCm38) missense possibly damaging 0.75
R7899:Ptpn18 UTSW 1 34,469,905 (GRCm38) splice site probably null
R8543:Ptpn18 UTSW 1 34,472,148 (GRCm38) missense probably benign 0.00
R8821:Ptpn18 UTSW 1 34,472,190 (GRCm38) missense probably null 1.00
R8831:Ptpn18 UTSW 1 34,472,190 (GRCm38) missense probably null 1.00
R8858:Ptpn18 UTSW 1 34,463,115 (GRCm38) missense possibly damaging 0.88
R8879:Ptpn18 UTSW 1 34,463,130 (GRCm38) missense probably benign 0.23
R8924:Ptpn18 UTSW 1 34,459,885 (GRCm38) missense probably benign 0.02
R9657:Ptpn18 UTSW 1 34,473,392 (GRCm38) missense possibly damaging 0.87
X0065:Ptpn18 UTSW 1 34,469,891 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TACTTTCTGCCCTCAGGTGG -3'
(R):5'- AGGTACTTGTCCTCAGCTCC -3'

Sequencing Primer
(F):5'- TCCTGCTCTGAAGACTGGG -3'
(R):5'- GTACTTGTCCTCAGCTCCACACC -3'
Posted On 2019-06-26