Incidental Mutation 'R4075:Ptpn1'
ID 316502
Institutional Source Beutler Lab
Gene Symbol Ptpn1
Ensembl Gene ENSMUSG00000027540
Gene Name protein tyrosine phosphatase, non-receptor type 1
Synonyms PTP1B, PTP-1B
MMRRC Submission 040974-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.916) question?
Stock # R4075 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 167773977-167821305 bp(+) (GRCm39)
Type of Mutation splice site (3653 bp from exon)
DNA Base Change (assembly) T to A at 167818433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000096672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029053] [ENSMUST00000099073]
AlphaFold P35821
Predicted Effect probably benign
Transcript: ENSMUST00000029053
AA Change: S392T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000029053
Gene: ENSMUSG00000027540
AA Change: S392T

DomainStartEndE-ValueType
PTPc 15 279 1.35e-123 SMART
low complexity region 301 320 N/A INTRINSIC
low complexity region 354 364 N/A INTRINSIC
low complexity region 387 397 N/A INTRINSIC
transmembrane domain 409 431 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000099073
SMART Domains Protein: ENSMUSP00000096672
Gene: ENSMUSG00000074577

DomainStartEndE-ValueType
Pfam:PL48 19 363 3.5e-169 PFAM
low complexity region 414 423 N/A INTRINSIC
low complexity region 445 455 N/A INTRINSIC
low complexity region 496 513 N/A INTRINSIC
low complexity region 582 602 N/A INTRINSIC
SCOP:d1gw5a_ 794 909 6e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123782
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126839
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147210
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
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 the founding member of the protein tyrosine phosphatase (PTP) family, which was isolated and identified based on its enzymatic activity and amino acid sequence. PTPs catalyze the hydrolysis of the phosphate monoesters specifically on tyrosine residues. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP has been shown to act as a negative regulator of insulin signaling by dephosphorylating the phosphotryosine residues of insulin receptor kinase. This PTP was also reported to dephosphorylate epidermal growth factor receptor kinase, as well as JAK2 and TYK2 kinases, which implicated the role of this PTP in cell growth control, and cell response to interferon stimulation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit greatly reduced adiposity due to reduced fat cell mass, increased basal metabolic rate, mild hypoglycemia and hypoinsulinemia, increased insulin sensitivity, and enhanced sensitivity to leptin. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 T A 7: 119,297,981 (GRCm39) L206H probably benign Het
Adam34l A T 8: 44,079,387 (GRCm39) F279Y probably damaging Het
Adgrf5 T G 17: 43,761,086 (GRCm39) V927G probably damaging Het
Agtr1a A G 13: 30,565,817 (GRCm39) N294S probably damaging Het
Aspm T C 1: 139,402,023 (GRCm39) L1229S probably damaging Het
Chmp7 A T 14: 69,969,730 (GRCm39) V70E probably damaging Het
Cnot10 A G 9: 114,452,015 (GRCm39) F254L possibly damaging Het
Cubn A G 2: 13,318,810 (GRCm39) V2963A possibly damaging Het
Depp1 A G 6: 116,629,029 (GRCm39) N124S possibly damaging Het
Dnah5 T A 15: 28,293,937 (GRCm39) D1347E probably benign Het
Dsg1a T G 18: 20,473,127 (GRCm39) N733K possibly damaging Het
Dst A G 1: 34,231,350 (GRCm39) E2656G probably benign Het
Egf C T 3: 129,529,618 (GRCm39) R264Q probably benign Het
Eqtn A G 4: 94,808,199 (GRCm39) I201T possibly damaging Het
Ercc4 G A 16: 12,948,549 (GRCm39) V499I probably damaging Het
Fsip2 C T 2: 82,813,245 (GRCm39) S3188L probably benign Het
Herc1 A G 9: 66,325,774 (GRCm39) D1416G probably benign Het
Hormad1 T C 3: 95,485,514 (GRCm39) M234T possibly damaging Het
Ifi44 A T 3: 151,451,613 (GRCm39) N164K probably benign Het
Ikzf3 G T 11: 98,358,469 (GRCm39) Y289* probably null Het
Il17rc A G 6: 113,458,158 (GRCm39) D327G possibly damaging Het
Lamp3 A G 16: 19,519,466 (GRCm39) L239P possibly damaging Het
Lce1l C T 3: 92,757,540 (GRCm39) S106N unknown Het
Lrig3 C T 10: 125,849,277 (GRCm39) T999I probably benign Het
Map4k4 T C 1: 40,062,622 (GRCm39) Y1196H probably damaging Het
Mtr C A 13: 12,230,298 (GRCm39) probably null Het
Nlrp4c A G 7: 6,075,709 (GRCm39) K667E probably benign Het
Nxt1 A G 2: 148,517,652 (GRCm39) D131G probably damaging Het
Obox3 G T 7: 15,359,724 (GRCm39) T315N possibly damaging Het
Or52e18 A T 7: 104,609,923 (GRCm39) N5K probably damaging Het
Or5bw2 T C 7: 6,573,142 (GRCm39) S51P probably benign Het
Pcdh7 A G 5: 57,879,150 (GRCm39) R902G probably damaging Het
Pidd1 A G 7: 141,020,739 (GRCm39) F453L probably damaging Het
Rev1 T G 1: 38,093,319 (GRCm39) K1075T possibly damaging Het
Slc28a2b T G 2: 122,344,892 (GRCm39) V166G probably benign Het
Slco1a5 A T 6: 142,213,950 (GRCm39) I57K possibly damaging Het
Ssrp1 A C 2: 84,875,912 (GRCm39) K590N possibly damaging Het
Svs5 T C 2: 164,079,238 (GRCm39) E223G probably benign Het
Tab3 G T X: 84,658,063 (GRCm39) V197F probably damaging Het
Tm2d3 T A 7: 65,347,498 (GRCm39) L49* probably null Het
Usp31 A G 7: 121,267,005 (GRCm39) probably null Het
Vmn2r24 A T 6: 123,764,374 (GRCm39) H417L possibly damaging Het
Zbbx C T 3: 75,012,978 (GRCm39) G151E probably damaging Het
Zbtb11 C T 16: 55,818,427 (GRCm39) T617I possibly damaging Het
Zfp677 T C 17: 21,618,421 (GRCm39) Y493H probably damaging Het
Other mutations in Ptpn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01482:Ptpn1 APN 2 167,809,712 (GRCm39) missense probably damaging 1.00
IGL02976:Ptpn1 APN 2 167,813,704 (GRCm39) missense probably benign 0.01
escondido UTSW 2 167,816,161 (GRCm39) missense probably damaging 1.00
R0106:Ptpn1 UTSW 2 167,818,338 (GRCm39) unclassified probably benign
R0106:Ptpn1 UTSW 2 167,818,338 (GRCm39) unclassified probably benign
R1438:Ptpn1 UTSW 2 167,818,529 (GRCm39) missense probably damaging 0.99
R3010:Ptpn1 UTSW 2 167,816,742 (GRCm39) missense probably damaging 1.00
R3607:Ptpn1 UTSW 2 167,817,427 (GRCm39) missense probably benign
R3755:Ptpn1 UTSW 2 167,816,143 (GRCm39) missense probably damaging 1.00
R4160:Ptpn1 UTSW 2 167,809,731 (GRCm39) missense probably benign 0.04
R4627:Ptpn1 UTSW 2 167,809,701 (GRCm39) missense probably benign 0.00
R4754:Ptpn1 UTSW 2 167,816,080 (GRCm39) missense probably damaging 1.00
R5596:Ptpn1 UTSW 2 167,816,683 (GRCm39) missense probably damaging 1.00
R5920:Ptpn1 UTSW 2 167,813,668 (GRCm39) missense probably benign 0.02
R6133:Ptpn1 UTSW 2 167,809,716 (GRCm39) missense possibly damaging 0.94
R7296:Ptpn1 UTSW 2 167,816,692 (GRCm39) missense probably damaging 0.98
R8350:Ptpn1 UTSW 2 167,816,161 (GRCm39) missense probably damaging 1.00
R9275:Ptpn1 UTSW 2 167,816,176 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TCCAGGTTTCCTCCATAGAGATG -3'
(R):5'- GTGCACTAATACCCTCCTGG -3'

Sequencing Primer
(F):5'- CCATAGAGATGGTCTCCTTTTCC -3'
(R):5'- TTCCAGTTCCAGAGCAGGCTTG -3'
Posted On 2015-05-15