Incidental Mutation 'IGL03011:Ptpn14'
ID407787
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptpn14
Ensembl Gene ENSMUSG00000026604
Gene Nameprotein tyrosine phosphatase, non-receptor type 14
SynonymsC130080N23Rik, PTP36, OTTMUSG00000022087
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03011
Quality Score
Status
Chromosome1
Chromosomal Location189728268-189876695 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 189839557 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 282 (T282S)
Ref Sequence ENSEMBL: ENSMUSP00000027898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027898] [ENSMUST00000097442]
Predicted Effect probably damaging
Transcript: ENSMUST00000027898
AA Change: T282S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027898
Gene: ENSMUSG00000026604
AA Change: T282S

DomainStartEndE-ValueType
B41 17 220 3.7e-67 SMART
FERM_C 224 310 3.43e-15 SMART
low complexity region 565 575 N/A INTRINSIC
low complexity region 633 639 N/A INTRINSIC
low complexity region 710 718 N/A INTRINSIC
low complexity region 745 758 N/A INTRINSIC
low complexity region 817 834 N/A INTRINSIC
PTPc 910 1184 2.14e-103 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000097442
AA Change: T282S

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095051
Gene: ENSMUSG00000026604
AA Change: T282S

DomainStartEndE-ValueType
B41 17 220 3.7e-67 SMART
FERM_C 224 310 3.43e-15 SMART
low complexity region 565 575 N/A INTRINSIC
low complexity region 633 639 N/A INTRINSIC
low complexity region 710 718 N/A INTRINSIC
low complexity region 745 758 N/A INTRINSIC
low complexity region 817 834 N/A INTRINSIC
PTPc 910 1184 2.14e-103 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128275
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181876
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194127
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 PTP contains an N-terminal noncatalytic domain similar to that of band 4.1 superfamily cytoskeleton-associated proteins, which suggested the membrane or cytoskeleton localization of this protein. It appears to regulate lymphatic development in mammals, and a loss of function mutation has been found in a kindred with a lymphedema-choanal atresia. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit some postnatal growth retardation, decreased body weight, periorbital and limb edema, and lymphatic vessel hyperplasia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028P14Rik T A 19: 23,652,653 D25V unknown Het
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Apob C A 12: 7,997,883 P941Q probably damaging Het
Armc9 T A 1: 86,199,916 probably null Het
Arpc5l T C 2: 39,013,718 probably benign Het
Atg2b C A 12: 105,626,362 D1745Y probably damaging Het
Atp9a A G 2: 168,652,632 V651A probably damaging Het
Ccnyl1 T C 1: 64,708,472 I148T possibly damaging Het
Chrna6 A T 8: 27,413,654 W17R possibly damaging Het
Cpne1 G A 2: 156,077,997 H244Y probably damaging Het
Cpxm2 A G 7: 132,049,078 Y618H possibly damaging Het
Csf1r T C 18: 61,110,401 I163T probably benign Het
Ctdsp1 T C 1: 74,395,447 probably benign Het
Ctsb T A 14: 63,133,357 I6N probably benign Het
D430042O09Rik T C 7: 125,852,002 C1102R probably benign Het
Dcbld1 A G 10: 52,284,148 N44S probably damaging Het
Dnah11 C T 12: 118,012,377 C2769Y probably benign Het
Efemp2 C A 19: 5,480,065 Q187K probably damaging Het
Elavl3 A T 9: 22,036,316 I109N probably damaging Het
Elovl5 G T 9: 77,982,784 K292N probably benign Het
Epb41 G T 4: 132,003,794 P1T probably damaging Het
Gm13084 A C 4: 143,811,760 F214V possibly damaging Het
Gm44865 G T 7: 108,565,800 probably benign Het
Gnat2 C A 3: 108,100,052 T262K probably damaging Het
Kmt2e A T 5: 23,497,542 I951F probably damaging Het
Large2 T C 2: 92,367,582 H258R probably damaging Het
Lnx1 G A 5: 74,685,759 P10L probably benign Het
Lrp6 G A 6: 134,520,417 S209L possibly damaging Het
Mc3r A G 2: 172,249,796 I313V probably benign Het
Med1 T C 11: 98,161,033 D468G possibly damaging Het
Mlxip T C 5: 123,445,951 S526P probably benign Het
Myo15 T C 11: 60,509,531 probably benign Het
Nedd1 T C 10: 92,689,641 D602G possibly damaging Het
Nol7 C T 13: 43,401,293 probably benign Het
Olfr250 T C 9: 38,368,068 I174T possibly damaging Het
Piezo2 T C 18: 63,124,660 D329G probably benign Het
Pkia G T 3: 7,442,082 E75* probably null Het
Ptprg C T 14: 12,219,029 P408S probably damaging Het
Rpa2 A G 4: 132,775,047 I147V probably benign Het
Serpina12 T C 12: 104,031,138 T375A possibly damaging Het
Serpinb11 T A 1: 107,379,816 S326T probably damaging Het
Slc18a1 T C 8: 69,038,863 T500A probably benign Het
Tapt1 A G 5: 44,193,187 F247L possibly damaging Het
Trav8d-2 A G 14: 53,042,761 I69M possibly damaging Het
Other mutations in Ptpn14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01014:Ptpn14 APN 1 189822633 missense probably damaging 1.00
IGL02501:Ptpn14 APN 1 189850390 missense probably benign 0.14
R0724:Ptpn14 UTSW 1 189850947 missense possibly damaging 0.52
R0791:Ptpn14 UTSW 1 189836440 splice site probably benign
R1363:Ptpn14 UTSW 1 189798628 missense probably damaging 1.00
R1605:Ptpn14 UTSW 1 189865512 missense probably benign 0.00
R1840:Ptpn14 UTSW 1 189786851 missense probably damaging 1.00
R1845:Ptpn14 UTSW 1 189839502 missense possibly damaging 0.96
R1891:Ptpn14 UTSW 1 189798653 missense probably damaging 1.00
R2187:Ptpn14 UTSW 1 189863228 nonsense probably null
R2288:Ptpn14 UTSW 1 189865498 missense probably damaging 1.00
R3686:Ptpn14 UTSW 1 189851399 missense probably damaging 1.00
R3895:Ptpn14 UTSW 1 189850546 missense probably benign 0.31
R3898:Ptpn14 UTSW 1 189850531 missense probably benign 0.35
R4004:Ptpn14 UTSW 1 189850510 missense probably benign 0.00
R4816:Ptpn14 UTSW 1 189856800 missense probably damaging 1.00
R4883:Ptpn14 UTSW 1 189850800 missense probably damaging 0.99
R4928:Ptpn14 UTSW 1 189822642 missense probably damaging 1.00
R4931:Ptpn14 UTSW 1 189851277 missense probably benign
R4957:Ptpn14 UTSW 1 189851272 missense probably benign 0.02
R5009:Ptpn14 UTSW 1 189850534 missense probably benign
R5038:Ptpn14 UTSW 1 189786886 missense probably damaging 1.00
R5264:Ptpn14 UTSW 1 189832800 critical splice donor site probably null
R5373:Ptpn14 UTSW 1 189850963 missense probably benign
R5441:Ptpn14 UTSW 1 189798570 missense probably damaging 1.00
R5540:Ptpn14 UTSW 1 189846364 missense probably benign 0.05
R5638:Ptpn14 UTSW 1 189786841 missense probably damaging 1.00
R5746:Ptpn14 UTSW 1 189846413 critical splice donor site probably null
R5872:Ptpn14 UTSW 1 189851032 missense probably benign 0.00
R5988:Ptpn14 UTSW 1 189850387 missense probably damaging 1.00
R6139:Ptpn14 UTSW 1 189851165 missense probably benign 0.01
R6295:Ptpn14 UTSW 1 189850800 missense probably damaging 0.99
R6770:Ptpn14 UTSW 1 189832773 missense probably damaging 1.00
R7097:Ptpn14 UTSW 1 189863398 nonsense probably null
R7320:Ptpn14 UTSW 1 189832759 missense probably benign 0.11
R7324:Ptpn14 UTSW 1 189863424 missense possibly damaging 0.46
R7599:Ptpn14 UTSW 1 189850745 missense probably benign 0.39
R7699:Ptpn14 UTSW 1 189865411 missense probably benign 0.08
R7700:Ptpn14 UTSW 1 189865411 missense probably benign 0.08
Posted On2016-08-02