Incidental Mutation 'IGL02894:Ptpn7'
ID 363325
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptpn7
Ensembl Gene ENSMUSG00000031506
Gene Name protein tyrosine phosphatase, non-receptor type 7
Synonyms LC-PTP, BPTP-4, C920001D21Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02894
Quality Score
Status
Chromosome 1
Chromosomal Location 135060438-135073055 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 135070906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 332 (M332L)
Ref Sequence ENSEMBL: ENSMUSP00000141133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027684] [ENSMUST00000049449] [ENSMUST00000167080] [ENSMUST00000187985]
AlphaFold Q8BUM3
Predicted Effect probably benign
Transcript: ENSMUST00000027684
SMART Domains Protein: ENSMUSP00000027684
Gene: ENSMUSG00000026426

DomainStartEndE-ValueType
ARF 1 185 2.25e-31 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000049449
AA Change: M332L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000045803
Gene: ENSMUSG00000031506
AA Change: M332L

DomainStartEndE-ValueType
low complexity region 25 34 N/A INTRINSIC
PTPc 96 351 2.3e-117 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125774
SMART Domains Protein: ENSMUSP00000121545
Gene: ENSMUSG00000026426

DomainStartEndE-ValueType
Pfam:Roc 16 113 1e-12 PFAM
Pfam:Ras 18 162 4.2e-16 PFAM
Pfam:Arf 19 160 6.6e-41 PFAM
Pfam:Gtr1_RagA 26 155 3.7e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167080
AA Change: M332L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129474
Gene: ENSMUSG00000031506
AA Change: M332L

DomainStartEndE-ValueType
low complexity region 25 34 N/A INTRINSIC
PTPc 96 351 2.3e-117 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000187985
AA Change: M332L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141133
Gene: ENSMUSG00000031506
AA Change: M332L

DomainStartEndE-ValueType
low complexity region 25 34 N/A INTRINSIC
PTPc 96 351 2.3e-117 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188478
Meta Mutation Damage Score 0.2810 question?
Coding Region Coverage
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630023A22Rik T A 14: 33,776,817 (GRCm39) probably benign Het
Aurka T A 2: 172,208,868 (GRCm39) probably null Het
Cacna2d3 C T 14: 28,786,276 (GRCm39) probably null Het
Cdh12 A G 15: 21,586,380 (GRCm39) Y733C probably damaging Het
Cdon A T 9: 35,366,722 (GRCm39) E199D probably benign Het
Celsr2 A T 3: 108,302,526 (GRCm39) L558Q probably damaging Het
Clcnkb C A 4: 141,135,130 (GRCm39) R536L probably benign Het
Cyp3a11 G A 5: 145,805,836 (GRCm39) Q151* probably null Het
Dnah7a A T 1: 53,616,487 (GRCm39) V1158E probably benign Het
Dnah8 G T 17: 30,940,084 (GRCm39) E1677* probably null Het
Dock3 T C 9: 106,807,298 (GRCm39) N1343S probably benign Het
Dock6 T A 9: 21,723,111 (GRCm39) E1603D probably damaging Het
Fam91a1 C T 15: 58,315,080 (GRCm39) T589M probably benign Het
Fat2 T A 11: 55,147,479 (GRCm39) N3921I probably damaging Het
Gm10188 A G 1: 132,157,037 (GRCm39) probably benign Het
Grid2ip A G 5: 143,376,863 (GRCm39) E976G probably benign Het
Hapln3 G T 7: 78,771,521 (GRCm39) Q123K probably benign Het
Hnrnpul1 G A 7: 25,450,329 (GRCm39) P128S possibly damaging Het
Hsd3b1 T A 3: 98,760,245 (GRCm39) I249F possibly damaging Het
Kbtbd3 A T 9: 4,331,444 (GRCm39) H606L probably benign Het
Krt82 T C 15: 101,451,155 (GRCm39) Y418C probably damaging Het
Mcm3ap C A 10: 76,313,601 (GRCm39) A565E probably benign Het
Minar1 T G 9: 89,485,155 (GRCm39) I81L probably damaging Het
Naip2 A G 13: 100,297,505 (GRCm39) S844P probably damaging Het
Naip2 C T 13: 100,320,297 (GRCm39) V240I probably benign Het
Notch2 T A 3: 98,009,748 (GRCm39) C558* probably null Het
Npdc1 T A 2: 25,298,007 (GRCm39) H185Q probably benign Het
Or2a25 A T 6: 42,888,451 (GRCm39) probably benign Het
Or4c31 T G 2: 88,292,070 (GRCm39) Y148D probably damaging Het
Or5d37 T C 2: 87,924,107 (GRCm39) I58V possibly damaging Het
Osbpl3 A T 6: 50,323,312 (GRCm39) I257N possibly damaging Het
Pkd1l2 T A 8: 117,740,630 (GRCm39) T2156S probably damaging Het
Ppp1r13b A G 12: 111,797,888 (GRCm39) probably benign Het
Ppp3ca C A 3: 136,503,573 (GRCm39) H49N probably damaging Het
Prrc2c A T 1: 162,505,626 (GRCm39) L1100I probably damaging Het
Ptpn21 A C 12: 98,655,891 (GRCm39) probably benign Het
Ptprq T A 10: 107,503,285 (GRCm39) Q791L probably benign Het
Ptprz1 G A 6: 23,035,148 (GRCm39) R1966H probably damaging Het
Ralgapa1 T A 12: 55,763,854 (GRCm39) Q1404L possibly damaging Het
Reln C A 5: 22,090,546 (GRCm39) M3437I possibly damaging Het
S100a7l2 A T 3: 90,995,700 (GRCm39) F67L probably benign Het
Slc13a1 T C 6: 24,137,041 (GRCm39) probably benign Het
Slc4a11 T C 2: 130,529,075 (GRCm39) probably null Het
Slc9a2 A G 1: 40,802,762 (GRCm39) E604G probably benign Het
Sod3 T G 5: 52,525,348 (GRCm39) S16A possibly damaging Het
Taok3 A G 5: 117,401,678 (GRCm39) I650V probably benign Het
Uggt2 T C 14: 119,319,211 (GRCm39) I270M probably damaging Het
Ugt3a1 T A 15: 9,367,487 (GRCm39) I410N probably damaging Het
Ush2a G A 1: 188,184,043 (GRCm39) S1449N probably damaging Het
Usp29 A T 7: 6,964,633 (GRCm39) M159L probably benign Het
Vmn1r122 A T 7: 20,867,649 (GRCm39) F135L probably benign Het
Wdr11 T C 7: 129,232,890 (GRCm39) probably benign Het
Zc3h14 T A 12: 98,725,202 (GRCm39) probably null Het
Zfp955a A T 17: 33,461,426 (GRCm39) C235* probably null Het
Other mutations in Ptpn7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02282:Ptpn7 APN 1 135,062,572 (GRCm39) missense probably damaging 0.99
R0486:Ptpn7 UTSW 1 135,065,096 (GRCm39) missense probably damaging 1.00
R0708:Ptpn7 UTSW 1 135,062,285 (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
Posted On 2015-12-18