Incidental Mutation 'R8346:Ptpn3'
ID 645221
Institutional Source Beutler Lab
Gene Symbol Ptpn3
Ensembl Gene ENSMUSG00000038764
Gene Name protein tyrosine phosphatase, non-receptor type 3
Synonyms 9530011I20Rik, PTP-H1, PTPCL
MMRRC Submission 067802-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.632) question?
Stock # R8346 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 57190841-57301837 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57225547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 513 (I513V)
Ref Sequence ENSEMBL: ENSMUSP00000075063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075637]
AlphaFold A2ALK8
Predicted Effect probably damaging
Transcript: ENSMUST00000075637
AA Change: I513V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000075063
Gene: ENSMUSG00000038764
AA Change: I513V

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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 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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik A G 14: 59,380,221 (GRCm39) S26P probably damaging Het
Aco1 T A 4: 40,177,876 (GRCm39) M299K probably damaging Het
Acox1 G T 11: 116,069,099 (GRCm39) T382N possibly damaging Het
Angpt2 G A 8: 18,791,135 (GRCm39) R54* probably null Het
App G T 16: 84,900,145 (GRCm39) R102S unknown Het
Chd1l T C 3: 97,469,959 (GRCm39) N856D probably benign Het
Col11a1 A G 3: 114,005,818 (GRCm39) D1650G unknown Het
Cx3cl1 T C 8: 95,507,168 (GRCm39) V391A probably damaging Het
Cyp11b2 T C 15: 74,723,617 (GRCm39) Y378C probably damaging Het
Cyp26b1 T C 6: 84,554,150 (GRCm39) S156G probably benign Het
Cyp3a11 C T 5: 145,795,612 (GRCm39) M446I probably damaging Het
D7Ertd443e G A 7: 133,950,485 (GRCm39) T396I possibly damaging Het
Dusp4 C A 8: 35,275,092 (GRCm39) N70K possibly damaging Het
Dync1h1 G A 12: 110,632,226 (GRCm39) A4499T probably benign Het
Eno2 T C 6: 124,740,758 (GRCm39) D266G possibly damaging Het
Eomes T C 9: 118,314,036 (GRCm39) S694P probably benign Het
Fmo4 A G 1: 162,621,792 (GRCm39) V473A probably benign Het
Fmo5 T A 3: 97,552,962 (GRCm39) N303K probably damaging Het
Garin1b G A 6: 29,334,030 (GRCm39) C296Y probably damaging Het
Gdf10 A G 14: 33,653,802 (GRCm39) E103G probably benign Het
Gjb6 T C 14: 57,362,259 (GRCm39) M1V probably null Het
Gm17067 A G 7: 42,358,073 (GRCm39) L143P probably damaging Het
Helz A G 11: 107,563,399 (GRCm39) D1613G unknown Het
Hmgn3 T C 9: 82,993,159 (GRCm39) K50E probably damaging Het
Hoxc11 G A 15: 102,863,186 (GRCm39) G76S possibly damaging Het
Ighv1-9 A T 12: 114,547,448 (GRCm39) M31K probably benign Het
Ighv2-2 A T 12: 113,552,189 (GRCm39) C16* probably null Het
Kidins220 T G 12: 25,086,533 (GRCm39) F989C probably damaging Het
Krtap28-13 A G 1: 83,039,086 (GRCm39) K124E unknown Het
Mast4 A G 13: 102,887,986 (GRCm39) V1141A probably damaging Het
Myb A T 10: 21,002,136 (GRCm39) M735K probably benign Het
Myo3a T A 2: 22,448,434 (GRCm39) probably null Het
Naa60 G A 16: 3,718,507 (GRCm39) G113D probably damaging Het
Nfatc1 T C 18: 80,725,382 (GRCm39) I461V probably benign Het
Nphp4 C A 4: 152,645,778 (GRCm39) A1262D probably damaging Het
Obscn A T 11: 58,976,007 (GRCm39) V2040E possibly damaging Het
Or1j4 A G 2: 36,740,351 (GRCm39) I98V probably benign Het
Or9a2 A G 6: 41,749,057 (GRCm39) Y59H probably damaging Het
Ormdl1 T A 1: 53,344,626 (GRCm39) F63I possibly damaging Het
Otulinl A G 15: 27,664,644 (GRCm39) Y76H probably damaging Het
Phc1 C T 6: 122,302,774 (GRCm39) V250M probably damaging Het
Pik3c2b G A 1: 133,017,984 (GRCm39) V949M probably damaging Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Prmt8 T A 6: 127,688,810 (GRCm39) M187L probably damaging Het
Rad17 A C 13: 100,781,681 (GRCm39) S39A possibly damaging Het
Rbck1 T C 2: 152,160,700 (GRCm39) Y412C probably damaging Het
Rfc3 C A 5: 151,569,100 (GRCm39) M152I probably damaging Het
Scn11a C A 9: 119,608,047 (GRCm39) C1028F probably damaging Het
Sfmbt2 C A 2: 10,466,236 (GRCm39) P357Q probably damaging Het
Slc22a6 C G 19: 8,599,169 (GRCm39) R267G probably damaging Het
St3gal1 G A 15: 66,985,511 (GRCm39) R48C probably damaging Het
Stmnd1 A G 13: 46,452,936 (GRCm39) N204S probably benign Het
Tdrd1 T C 19: 56,830,699 (GRCm39) V244A probably benign Het
Ttc28 G A 5: 111,381,207 (GRCm39) D1240N probably benign Het
Vmn2r25 T C 6: 123,802,350 (GRCm39) T518A probably benign Het
Xdh T C 17: 74,220,938 (GRCm39) D597G probably damaging Het
Zfp457 G A 13: 67,441,862 (GRCm39) Q238* probably null Het
Zfp647 T C 15: 76,795,928 (GRCm39) D244G probably damaging Het
Zfp870 T A 17: 33,102,843 (GRCm39) E162V possibly 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
IGL01933:Ptpn3 APN 4 57,197,576 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- CTTGGGTTTGCGTTCACAC -3'
(R):5'- GTGATAAGGTGAGGGACTTCCG -3'

Sequencing Primer
(F):5'- ATGCTTGCATGGCTAGAACC -3'
(R):5'- CGGGTCCTGTGCACTTTCG -3'
Posted On 2020-09-02