Incidental Mutation 'R0708:Ptpn7'
ID 63840
Institutional Source Beutler Lab
Gene Symbol Ptpn7
Ensembl Gene ENSMUSG00000031506
Gene Name protein tyrosine phosphatase, non-receptor type 7
Synonyms LC-PTP, BPTP-4, C920001D21Rik
MMRRC Submission 038891-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0708 (G1)
Quality Score 159
Status Not validated
Chromosome 1
Chromosomal Location 135060438-135073055 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 135062285 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 77 (T77K)
Ref Sequence ENSEMBL: ENSMUSP00000141133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049449] [ENSMUST00000167080] [ENSMUST00000187985]
AlphaFold Q8BUM3
Predicted Effect probably damaging
Transcript: ENSMUST00000049449
AA Change: T77K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000045803
Gene: ENSMUSG00000031506
AA Change: T77K

DomainStartEndE-ValueType
low complexity region 25 34 N/A INTRINSIC
PTPc 96 351 2.3e-117 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167080
AA Change: T77K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129474
Gene: ENSMUSG00000031506
AA Change: T77K

DomainStartEndE-ValueType
low complexity region 25 34 N/A INTRINSIC
PTPc 96 351 2.3e-117 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182541
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183212
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183317
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183328
Predicted Effect probably damaging
Transcript: ENSMUST00000187985
AA Change: T77K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141133
Gene: ENSMUSG00000031506
AA Change: T77K

DomainStartEndE-ValueType
low complexity region 25 34 N/A INTRINSIC
PTPc 96 351 2.3e-117 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188478
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.3%
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, mitotic cycle, and oncogenic transformation. This gene is preferentially expressed in a variety of hematopoietic cells, and is an early response gene in lymphokine stimulated cells. The non-catalytic N-terminus of this PTP can interact with MAP kinases and suppress the MAP kinase activities. This PTP was shown to be involved in the regulation of T cell antigen receptor (TCR) signaling, which was thought to function through dephosphorylating the molecules related to MAP kinase pathway. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Brdt A T 5: 107,506,766 (GRCm39) K450* probably null Het
Cand2 G A 6: 115,780,766 (GRCm39) E1217K probably damaging Het
Col9a1 A T 1: 24,276,342 (GRCm39) Q750L possibly damaging Het
Dnah6 A T 6: 73,189,605 (GRCm39) S14R probably benign Het
Enox1 A G 14: 77,830,352 (GRCm39) N319S probably benign Het
Frs2 G A 10: 116,909,997 (GRCm39) T455M probably damaging Het
Glra3 C T 8: 56,578,399 (GRCm39) probably benign Het
Gmppa T C 1: 75,419,218 (GRCm39) F375S probably damaging Het
Hectd4 G A 5: 121,424,526 (GRCm39) probably null Het
Hgf C A 5: 16,771,761 (GRCm39) C129* probably null Het
Insc T A 7: 114,444,381 (GRCm39) V456E probably damaging Het
Ints14 G A 9: 64,891,266 (GRCm39) V416I probably benign Het
Klk1b11 T C 7: 43,647,152 (GRCm39) F29L possibly damaging Het
Ogfod1 C T 8: 94,765,673 (GRCm39) L79F possibly damaging Het
Or8d2b T A 9: 38,788,571 (GRCm39) V33E probably damaging Het
Orc3 A T 4: 34,597,368 (GRCm39) I224N probably damaging Het
Papss2 T C 19: 32,614,616 (GRCm39) F111L probably damaging Het
Poc1b A G 10: 98,990,992 (GRCm39) D291G probably null Het
Prl8a8 A T 13: 27,695,528 (GRCm39) M72K possibly damaging Het
Ptpro T C 6: 137,363,251 (GRCm39) S462P probably benign Het
Rab3gap2 T A 1: 184,982,123 (GRCm39) S392T probably damaging Het
Sema4d A G 13: 51,866,755 (GRCm39) V245A probably benign Het
Sgcb A T 5: 73,798,225 (GRCm39) probably null Het
Slc24a1 T A 9: 64,855,172 (GRCm39) K578N unknown Het
Sptbn1 A T 11: 30,064,739 (GRCm39) V1920E probably damaging Het
Tecr A T 8: 84,299,738 (GRCm39) I101N probably damaging Het
Tectb T C 19: 55,179,984 (GRCm39) F277L probably benign Het
Tgs1 T A 4: 3,586,152 (GRCm39) L343H probably benign Het
Thbs4 C A 13: 92,909,694 (GRCm39) G368W probably damaging Het
Zfp558 T C 9: 18,368,123 (GRCm39) S222G possibly damaging Het
Other mutations in Ptpn7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02282:Ptpn7 APN 1 135,062,572 (GRCm39) missense probably damaging 0.99
IGL02894:Ptpn7 APN 1 135,070,906 (GRCm39) missense probably damaging 0.99
R0486:Ptpn7 UTSW 1 135,065,096 (GRCm39) missense probably damaging 1.00
R1427:Ptpn7 UTSW 1 135,062,192 (GRCm39) missense possibly damaging 0.63
R1505:Ptpn7 UTSW 1 135,062,302 (GRCm39) missense probably benign 0.00
R1728:Ptpn7 UTSW 1 135,062,213 (GRCm39) missense probably benign
R1729:Ptpn7 UTSW 1 135,062,213 (GRCm39) missense probably benign
R1730:Ptpn7 UTSW 1 135,062,213 (GRCm39) missense probably benign
R1739:Ptpn7 UTSW 1 135,062,213 (GRCm39) missense probably benign
R1762:Ptpn7 UTSW 1 135,062,213 (GRCm39) missense probably benign
R1783:Ptpn7 UTSW 1 135,062,213 (GRCm39) missense probably benign
R1784:Ptpn7 UTSW 1 135,062,213 (GRCm39) missense probably benign
R1785:Ptpn7 UTSW 1 135,062,213 (GRCm39) missense probably benign
R1893:Ptpn7 UTSW 1 135,062,641 (GRCm39) missense probably benign 0.10
R4834:Ptpn7 UTSW 1 135,065,618 (GRCm39) critical splice donor site probably null
R5015:Ptpn7 UTSW 1 135,066,877 (GRCm39) missense possibly damaging 0.82
R5381:Ptpn7 UTSW 1 135,070,906 (GRCm39) missense probably damaging 0.99
R5702:Ptpn7 UTSW 1 135,061,582 (GRCm39) missense probably benign
R6422:Ptpn7 UTSW 1 135,062,240 (GRCm39) missense probably damaging 0.99
R6736:Ptpn7 UTSW 1 135,066,974 (GRCm39) missense probably benign 0.01
R8387:Ptpn7 UTSW 1 135,061,606 (GRCm39) missense probably benign 0.00
R8874:Ptpn7 UTSW 1 135,067,004 (GRCm39) missense possibly damaging 0.71
Z1176:Ptpn7 UTSW 1 135,062,249 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- TGGGCCTCTAGGTCAAGACAAAGAC -3'
(R):5'- ATGGGGACAACCTCTCTCCTACAC -3'

Sequencing Primer
(F):5'- TCTAGGTCAAGACAAAGACTCAGC -3'
(R):5'- CTACACCCCAAGGAGAAGAGAG -3'
Posted On 2013-07-30