Incidental Mutation 'R1741:Ptpn3'
ID 200331
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 039773-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.632) question?
Stock # R1741 (G1)
Quality Score 218
Status Not validated
Chromosome 4
Chromosomal Location 57190841-57301837 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57254922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 154 (V154A)
Ref Sequence ENSEMBL: ENSMUSP00000122490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075637] [ENSMUST00000153926]
AlphaFold A2ALK8
Predicted Effect probably damaging
Transcript: ENSMUST00000075637
AA Change: V154A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000075063
Gene: ENSMUSG00000038764
AA Change: V154A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150445
Predicted Effect probably damaging
Transcript: ENSMUST00000153926
AA Change: V154A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122490
Gene: ENSMUSG00000038764
AA Change: V154A

DomainStartEndE-ValueType
B41 25 222 2.44e-67 SMART
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.5%
  • 20x: 92.9%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034E13Rik A G 18: 52,793,578 (GRCm39) N37S probably damaging Het
Acad10 T C 5: 121,785,899 (GRCm39) K230R probably damaging Het
Actl7a A G 4: 56,744,252 (GRCm39) N260D probably benign Het
Adam24 T C 8: 41,132,642 (GRCm39) Y37H probably benign Het
Ahcy G A 2: 154,906,154 (GRCm39) A229V probably benign Het
Ap3b2 A G 7: 81,117,347 (GRCm39) V563A possibly damaging Het
Bcl9l T A 9: 44,420,986 (GRCm39) M1427K probably damaging Het
Btf3 C T 13: 98,452,804 (GRCm39) M1I probably null Het
Btg4 A T 9: 51,027,910 (GRCm39) I27L probably benign Het
Ccdc171 A G 4: 83,539,076 (GRCm39) Y366C probably damaging Het
Chd3 A G 11: 69,246,480 (GRCm39) Y1085H probably damaging Het
Cnot10 T C 9: 114,426,892 (GRCm39) D616G possibly damaging Het
Crlf1 C A 8: 70,953,556 (GRCm39) D243E probably damaging Het
Cyp2b23 A G 7: 26,372,502 (GRCm39) V371A possibly damaging Het
Dennd2a A G 6: 39,470,091 (GRCm39) S534P probably damaging Het
Eln A G 5: 134,758,038 (GRCm39) V185A unknown Het
Epor C T 9: 21,871,067 (GRCm39) G301D probably damaging Het
Fam83f T G 15: 80,576,468 (GRCm39) V373G possibly damaging Het
Fbxl21 A T 13: 56,684,915 (GRCm39) T340S probably benign Het
Fcgbpl1 G T 7: 27,857,279 (GRCm39) C2209F probably damaging Het
Fez1 T A 9: 36,755,029 (GRCm39) D9E probably damaging Het
Fsip2 T C 2: 82,820,256 (GRCm39) F5330L probably benign Het
Glis1 G A 4: 107,425,544 (GRCm39) R197Q probably damaging Het
Gm10277 TC T 11: 77,676,828 (GRCm39) probably null Het
Gpr158 A G 2: 21,832,359 (GRCm39) N1153S probably benign Het
Gramd4 T C 15: 85,975,730 (GRCm39) probably null Het
Hhatl T A 9: 121,618,125 (GRCm39) Y210F possibly damaging Het
Hltf T C 3: 20,140,352 (GRCm39) W422R probably damaging Het
Hspa5 T C 2: 34,662,704 (GRCm39) S87P possibly damaging Het
Il21 T C 3: 37,281,811 (GRCm39) H111R probably benign Het
Ip6k1 G A 9: 107,918,183 (GRCm39) G73S probably benign Het
Kdm5b A G 1: 134,545,755 (GRCm39) D972G possibly damaging Het
Kif21b C T 1: 136,083,880 (GRCm39) A709V probably damaging Het
Kmt2d T C 15: 98,743,115 (GRCm39) probably benign Het
Lrrc14b A G 13: 74,511,705 (GRCm39) L125P probably damaging Het
Mapk8ip3 A G 17: 25,118,828 (GRCm39) S1169P probably damaging Het
Me3 A T 7: 89,501,041 (GRCm39) Y584F probably damaging Het
Mxra7 T G 11: 116,707,070 (GRCm39) probably null Het
Nf1 T C 11: 79,334,757 (GRCm39) S870P probably benign Het
Npr2 G A 4: 43,643,350 (GRCm39) G525S probably damaging Het
Nyap1 A T 5: 137,731,387 (GRCm39) S726T probably damaging Het
Padi4 A G 4: 140,473,481 (GRCm39) V652A probably damaging Het
Pclo A G 5: 14,726,524 (GRCm39) probably benign Het
Pgm1 G A 4: 99,822,062 (GRCm39) probably null Het
Piezo2 A G 18: 63,154,244 (GRCm39) S2512P probably damaging Het
Ptbp3 A T 4: 59,482,624 (GRCm39) D386E probably damaging Het
Ptk2 A G 15: 73,114,255 (GRCm39) V701A possibly damaging Het
Rassf4 T C 6: 116,616,450 (GRCm39) E287G probably damaging Het
Rnh1 C T 7: 140,743,936 (GRCm39) R174H probably benign Het
Scn9a T A 2: 66,317,938 (GRCm39) I1517F probably damaging Het
Sftpb C A 6: 72,282,797 (GRCm39) A90E probably benign Het
Slc39a14 T C 14: 70,556,193 (GRCm39) K61R probably damaging Het
Tmem132d A C 5: 127,861,922 (GRCm39) M733R probably benign Het
Tmem248 A G 5: 130,265,664 (GRCm39) I156V probably benign Het
Traf2 T C 2: 25,414,495 (GRCm39) D339G probably damaging Het
Trappc11 A G 8: 47,982,362 (GRCm39) probably null Het
Tuba8 T A 6: 121,199,727 (GRCm39) I137N possibly damaging Het
Txlnb A G 10: 17,714,695 (GRCm39) T376A probably damaging Het
Usp34 A G 11: 23,314,103 (GRCm39) T663A probably benign Het
Vmn2r26 T A 6: 124,038,431 (GRCm39) F669I probably damaging Het
Wdr95 G A 5: 149,518,861 (GRCm39) probably null Het
Wfdc8 T G 2: 164,450,789 (GRCm39) probably benign Het
Zfp64 A C 2: 168,768,238 (GRCm39) V458G probably benign Het
Zfp868 C T 8: 70,064,519 (GRCm39) G272D 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
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
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
Predicted Primers PCR Primer
(F):5'- AGTGCCTTCCAGCAAATTCCTTAACC -3'
(R):5'- CGGAGTTGCCTTGAAGATTCAATCACG -3'

Sequencing Primer
(F):5'- GCTCTGGAAAAAAGCTGGTTGTATC -3'
(R):5'- CCTTGAAGATTCAATCACGTTGTTG -3'
Posted On 2014-05-23