Incidental Mutation 'IGL01933:Ptpn3'
ID 180505
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptpn3
Ensembl Gene ENSMUSG00000038764
Gene Name protein tyrosine phosphatase, non-receptor type 3
Synonyms 9530011I20Rik, PTP-H1, PTPCL
Accession Numbers
Essential gene? Possibly essential (E-score: 0.569) question?
Stock # IGL01933
Quality Score
Status
Chromosome 4
Chromosomal Location 57190841-57301837 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57197576 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 771 (H771R)
Ref Sequence ENSEMBL: ENSMUSP00000075063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075637]
AlphaFold A2ALK8
Predicted Effect probably benign
Transcript: ENSMUST00000075637
AA Change: H771R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000075063
Gene: ENSMUSG00000038764
AA Change: H771R

DomainStartEndE-ValueType
B41 25 222 2.44e-67 SMART
FERM_C 226 316 2.64e-25 SMART
low complexity region 454 470 N/A INTRINSIC
PDZ 519 598 1.65e-15 SMART
PTPc 645 903 5.66e-117 SMART
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 protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. P97, a cell cycle regulator involved in a variety of membrane related functions, has been shown to be a substrate of this PTP. This PTP was also found to interact with, and be regulated by adaptor protein 14-3-3 beta. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit increased body weight, especially in males, and male mice exhibit increased bone mineral content. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik C A 9: 57,164,650 (GRCm39) V575F possibly damaging Het
Abca2 T A 2: 25,334,123 (GRCm39) V1800E probably damaging Het
Acacb C T 5: 114,322,251 (GRCm39) probably benign Het
Adam34 C A 8: 44,104,569 (GRCm39) G359W probably damaging Het
Ankrd42 G A 7: 92,254,493 (GRCm39) T372I probably benign Het
Apc2 A G 10: 80,147,574 (GRCm39) D847G probably damaging Het
Arap3 T A 18: 38,111,506 (GRCm39) T1137S possibly damaging Het
Atp10b A C 11: 43,085,457 (GRCm39) T279P probably damaging Het
Bmp2 T A 2: 133,396,578 (GRCm39) M78K possibly damaging Het
Ccdc61 T G 7: 18,626,483 (GRCm39) M369L probably benign Het
Cep78 A T 19: 15,933,304 (GRCm39) I758N probably benign Het
Ces2a A G 8: 105,468,047 (GRCm39) *526W probably null Het
Cgnl1 C T 9: 71,552,765 (GRCm39) probably benign Het
Clec14a A G 12: 58,315,104 (GRCm39) Y173H probably damaging Het
Cntn4 G A 6: 106,671,345 (GRCm39) S976N probably damaging Het
Col6a4 G A 9: 105,937,313 (GRCm39) T1401I probably benign Het
D5Ertd579e T C 5: 36,773,100 (GRCm39) T432A probably benign Het
Dixdc1 G A 9: 50,614,558 (GRCm39) R163* probably null Het
Dmxl1 C A 18: 50,010,852 (GRCm39) T1003K probably benign Het
Dnah1 G A 14: 31,032,872 (GRCm39) R388W probably benign Het
Eci3 C T 13: 35,132,772 (GRCm39) A202T probably damaging Het
Egr2 T C 10: 67,376,024 (GRCm39) S220P probably damaging Het
Fntb C T 12: 76,966,880 (GRCm39) P405S probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm26602 C A 10: 79,746,955 (GRCm39) R236L probably benign Het
Hao2 T C 3: 98,787,648 (GRCm39) probably benign Het
Irgm2 A T 11: 58,110,783 (GRCm39) N170I possibly damaging Het
Klhl20 G A 1: 160,934,357 (GRCm39) R221W probably damaging Het
Kmt2b A G 7: 30,268,939 (GRCm39) probably null Het
Lrrc46 C T 11: 96,926,354 (GRCm39) E181K probably benign Het
Lztr1 T A 16: 17,338,455 (GRCm39) V226E probably damaging Het
Myh9 G T 15: 77,665,418 (GRCm39) D684E probably benign Het
Myo7a T C 7: 97,732,349 (GRCm39) T713A probably damaging Het
Nrap G T 19: 56,377,250 (GRCm39) N62K probably damaging Het
Or51a10 T C 7: 103,699,021 (GRCm39) Y180C probably damaging Het
Or5an1 A T 19: 12,261,069 (GRCm39) Y219F probably damaging Het
Osbp2 T C 11: 3,662,016 (GRCm39) D708G probably damaging Het
Pcnx2 G A 8: 126,488,393 (GRCm39) P1717L probably damaging Het
Pex1 A G 5: 3,683,789 (GRCm39) D1095G probably damaging Het
R3hcc1l G A 19: 42,551,389 (GRCm39) A129T probably damaging Het
Rbm15 G A 3: 107,238,419 (GRCm39) R660W probably damaging Het
Recql C T 6: 142,310,364 (GRCm39) V489M probably benign Het
Sash1 A T 10: 8,626,897 (GRCm39) S162R probably damaging Het
Sec11a T C 7: 80,584,810 (GRCm39) I42M probably benign Het
Slc25a23 G A 17: 57,359,813 (GRCm39) Q61* probably null Het
Son A T 16: 91,454,903 (GRCm39) M1217L probably benign Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Srgap2 T C 1: 131,339,593 (GRCm39) N123S probably damaging Het
Ssh1 T C 5: 114,088,441 (GRCm39) probably benign Het
St13 T C 15: 81,273,899 (GRCm39) probably null Het
St3gal3 A T 4: 117,889,072 (GRCm39) D57E probably damaging Het
Stk4 C T 2: 163,940,505 (GRCm39) probably benign Het
Tln1 T A 4: 43,539,508 (GRCm39) T1605S probably benign Het
Tln1 T C 4: 43,555,894 (GRCm39) T107A possibly damaging Het
Tmem135 G T 7: 88,793,065 (GRCm39) probably benign Het
Tmtc3 A G 10: 100,283,467 (GRCm39) M696T probably benign Het
Trbv28 T A 6: 41,248,761 (GRCm39) L97Q probably damaging Het
Trpc4ap A T 2: 155,481,455 (GRCm39) F534I possibly damaging Het
Trpm8 T C 1: 88,254,127 (GRCm39) Y117H probably damaging Het
Zfp608 T C 18: 55,120,871 (GRCm39) T239A probably benign Het
Zmym5 T G 14: 57,041,617 (GRCm39) H162P probably damaging Het
Other mutations in Ptpn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00905:Ptpn3 APN 4 57,270,050 (GRCm39) missense possibly damaging 0.95
IGL01090:Ptpn3 APN 4 57,240,833 (GRCm39) missense probably damaging 1.00
IGL01399:Ptpn3 APN 4 57,225,775 (GRCm39) missense probably benign 0.01
IGL01413:Ptpn3 APN 4 57,270,156 (GRCm39) missense probably damaging 0.96
IGL01418:Ptpn3 APN 4 57,270,156 (GRCm39) missense probably damaging 0.96
IGL01806:Ptpn3 APN 4 57,254,915 (GRCm39) critical splice donor site probably null
IGL02087:Ptpn3 APN 4 57,222,019 (GRCm39) missense probably damaging 1.00
IGL02269:Ptpn3 APN 4 57,197,510 (GRCm39) missense possibly damaging 0.72
IGL02413:Ptpn3 APN 4 57,205,020 (GRCm39) missense probably damaging 1.00
IGL03163:Ptpn3 APN 4 57,222,020 (GRCm39) missense probably damaging 1.00
R0179:Ptpn3 UTSW 4 57,270,118 (GRCm39) missense probably benign 0.00
R0240:Ptpn3 UTSW 4 57,232,374 (GRCm39) missense probably benign
R0240:Ptpn3 UTSW 4 57,232,374 (GRCm39) missense probably benign
R0310:Ptpn3 UTSW 4 57,204,958 (GRCm39) missense probably benign 0.00
R0492:Ptpn3 UTSW 4 57,194,304 (GRCm39) missense probably benign
R0631:Ptpn3 UTSW 4 57,204,921 (GRCm39) missense probably damaging 0.99
R0656:Ptpn3 UTSW 4 57,270,075 (GRCm39) missense probably benign 0.41
R1443:Ptpn3 UTSW 4 57,225,775 (GRCm39) missense probably benign 0.01
R1741:Ptpn3 UTSW 4 57,254,922 (GRCm39) missense probably damaging 1.00
R1856:Ptpn3 UTSW 4 57,239,682 (GRCm39) missense probably damaging 1.00
R3753:Ptpn3 UTSW 4 57,270,144 (GRCm39) missense probably damaging 1.00
R4431:Ptpn3 UTSW 4 57,235,355 (GRCm39) missense probably damaging 0.97
R4704:Ptpn3 UTSW 4 57,270,119 (GRCm39) missense possibly damaging 0.79
R4935:Ptpn3 UTSW 4 57,197,568 (GRCm39) missense probably damaging 1.00
R5119:Ptpn3 UTSW 4 57,218,513 (GRCm39) missense possibly damaging 0.93
R5410:Ptpn3 UTSW 4 57,205,019 (GRCm39) missense probably damaging 1.00
R5554:Ptpn3 UTSW 4 57,240,843 (GRCm39) missense probably damaging 0.99
R6024:Ptpn3 UTSW 4 57,248,653 (GRCm39) splice site probably null
R6061:Ptpn3 UTSW 4 57,248,681 (GRCm39) missense probably damaging 1.00
R6212:Ptpn3 UTSW 4 57,270,070 (GRCm39) missense probably damaging 1.00
R6213:Ptpn3 UTSW 4 57,265,012 (GRCm39) missense probably damaging 1.00
R6239:Ptpn3 UTSW 4 57,249,981 (GRCm39) missense probably benign
R6444:Ptpn3 UTSW 4 57,195,730 (GRCm39) missense possibly damaging 0.51
R6606:Ptpn3 UTSW 4 57,265,104 (GRCm39) splice site probably null
R6656:Ptpn3 UTSW 4 57,205,905 (GRCm39) missense probably damaging 0.99
R6730:Ptpn3 UTSW 4 57,270,088 (GRCm39) missense probably benign
R7133:Ptpn3 UTSW 4 57,225,863 (GRCm39) missense probably benign 0.30
R7231:Ptpn3 UTSW 4 57,245,062 (GRCm39) missense probably damaging 1.00
R7237:Ptpn3 UTSW 4 57,239,625 (GRCm39) missense probably damaging 1.00
R7368:Ptpn3 UTSW 4 57,221,993 (GRCm39) missense probably damaging 1.00
R7604:Ptpn3 UTSW 4 57,240,845 (GRCm39) missense probably damaging 0.99
R7742:Ptpn3 UTSW 4 57,265,092 (GRCm39) critical splice acceptor site probably null
R8023:Ptpn3 UTSW 4 57,248,688 (GRCm39) missense probably benign 0.02
R8099:Ptpn3 UTSW 4 57,204,985 (GRCm39) nonsense probably null
R8155:Ptpn3 UTSW 4 57,232,336 (GRCm39) missense probably benign
R8302:Ptpn3 UTSW 4 57,218,514 (GRCm39) missense probably benign 0.01
R8315:Ptpn3 UTSW 4 57,270,063 (GRCm39) missense possibly damaging 0.88
R8335:Ptpn3 UTSW 4 57,235,286 (GRCm39) missense probably damaging 0.99
R8346:Ptpn3 UTSW 4 57,225,547 (GRCm39) missense probably damaging 0.99
R8348:Ptpn3 UTSW 4 57,240,784 (GRCm39) critical splice donor site probably null
R8448:Ptpn3 UTSW 4 57,240,784 (GRCm39) critical splice donor site probably null
R8513:Ptpn3 UTSW 4 57,270,085 (GRCm39) nonsense probably null
R8846:Ptpn3 UTSW 4 57,205,020 (GRCm39) missense probably damaging 1.00
R9244:Ptpn3 UTSW 4 57,254,915 (GRCm39) critical splice donor site probably null
R9337:Ptpn3 UTSW 4 57,218,521 (GRCm39) missense probably damaging 0.96
R9478:Ptpn3 UTSW 4 57,197,573 (GRCm39) missense probably damaging 1.00
R9500:Ptpn3 UTSW 4 57,205,914 (GRCm39) missense possibly damaging 0.83
R9710:Ptpn3 UTSW 4 57,249,957 (GRCm39) nonsense probably null
Posted On 2014-05-07