Incidental Mutation 'R3430:Ptpn20'
ID 268088
Institutional Source Beutler Lab
Gene Symbol Ptpn20
Ensembl Gene ENSMUSG00000021940
Gene Name protein tyrosine phosphatase, non-receptor type 20
Synonyms typ
MMRRC Submission 040648-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3430 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 33311164-33362711 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 33336485 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 108 (V108D)
Ref Sequence ENSEMBL: ENSMUSP00000153829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022508] [ENSMUST00000226512] [ENSMUST00000227887]
AlphaFold O55082
Predicted Effect possibly damaging
Transcript: ENSMUST00000022508
AA Change: V108D

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000022508
Gene: ENSMUSG00000021940
AA Change: V108D

DomainStartEndE-ValueType
low complexity region 12 35 N/A INTRINSIC
PTPc 164 420 1.12e-120 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000226512
AA Change: V108D

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000227887
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (67/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the family of classical tyrosine-specific protein tyrosine phosphatases. Many protein tyrosine phosphatases have been shown to regulate fundamental cellular processes. The encoded protein appears to be targeted to sites of actin polymerization. A pseudogene of this gene has been defined on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l2 C A 19: 56,904,238 (GRCm39) R683L probably damaging Het
Ahnak A G 19: 8,984,322 (GRCm39) I1869V probably benign Het
Aoc1 A T 6: 48,883,010 (GRCm39) E295D probably benign Het
Arhgef19 T C 4: 140,984,111 (GRCm39) L777P probably benign Het
Atf7ip A G 6: 136,552,322 (GRCm39) probably benign Het
Bhmt T C 13: 93,763,855 (GRCm39) E62G probably damaging Het
Bpifa6 A G 2: 153,831,171 (GRCm39) I246V probably benign Het
Btbd10 T A 7: 112,951,016 (GRCm39) R25* probably null Het
Ccdc88a T A 11: 29,398,033 (GRCm39) D255E probably damaging Het
Chd7 T C 4: 8,844,517 (GRCm39) V1542A probably damaging Het
Cimip1 T C 2: 173,370,066 (GRCm39) Y114H possibly damaging Het
Col12a1 T A 9: 79,587,593 (GRCm39) T1183S probably benign Het
Col20a1 T A 2: 180,655,078 (GRCm39) L1145* probably null Het
Dchs1 A G 7: 105,405,711 (GRCm39) V2391A possibly damaging Het
Dgat2 A G 7: 98,806,300 (GRCm39) V299A probably benign Het
Dmxl2 T A 9: 54,384,745 (GRCm39) N94I possibly damaging Het
Dnah6 G A 6: 73,098,797 (GRCm39) S2034L possibly damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Filip1 A T 9: 79,760,952 (GRCm39) M194K probably damaging Het
Fut1 T C 7: 45,268,798 (GRCm39) F196L probably damaging Het
Gm10323 A C 13: 67,002,888 (GRCm39) W17G probably damaging Het
Grin3a C A 4: 49,792,534 (GRCm39) V400L probably benign Het
Htr3a T C 9: 48,818,688 (GRCm39) N82S probably benign Het
Il23r A C 6: 67,429,458 (GRCm39) S295A probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lama5 T C 2: 179,838,110 (GRCm39) K869E probably benign Het
Lce1d A T 3: 92,593,037 (GRCm39) probably benign Het
Lkaaear1 T C 2: 181,339,324 (GRCm39) D42G probably benign Het
Mapk8ip2 A G 15: 89,341,485 (GRCm39) E232G possibly damaging Het
Marf1 A G 16: 13,958,041 (GRCm39) probably benign Het
Mpeg1 A T 19: 12,440,492 (GRCm39) H650L probably benign Het
Nfib T C 4: 82,416,532 (GRCm39) I168V possibly damaging Het
Or1e29 A T 11: 73,667,365 (GRCm39) S263T probably damaging Het
Or2b7 A T 13: 21,739,975 (GRCm39) C72* probably null Het
Or4c29 C T 2: 88,739,810 (GRCm39) R309Q probably benign Het
Or4e5 A G 14: 52,727,882 (GRCm39) F180L possibly damaging Het
Or8b3b A T 9: 38,584,435 (GRCm39) F102I probably damaging Het
Otx2 T A 14: 48,896,254 (GRCm39) K260M probably damaging Het
P2ry12 C T 3: 59,125,448 (GRCm39) D76N probably damaging Het
Parp3 A T 9: 106,351,922 (GRCm39) I150K probably damaging Het
Prex2 T G 1: 11,220,078 (GRCm39) I683S possibly damaging Het
Prss34 A T 17: 25,518,078 (GRCm39) K86I probably benign Het
Rlf A G 4: 121,007,729 (GRCm39) L417P probably benign Het
Rsad2 T C 12: 26,506,418 (GRCm39) M1V probably null Het
S1pr5 A G 9: 21,156,378 (GRCm39) V16A probably benign Het
Scn7a AT ATT 2: 66,531,239 (GRCm39) probably null Het
Serpinb3b A T 1: 107,082,425 (GRCm39) S280T probably benign Het
Sh3d21 A G 4: 126,056,625 (GRCm39) S66P probably benign Het
Sh3yl1 T C 12: 31,009,841 (GRCm39) S253P probably benign Het
Smarca2 A G 19: 26,668,749 (GRCm39) E916G probably damaging Het
Sptbn1 A G 11: 30,169,686 (GRCm39) I14T possibly damaging Het
Supt16 A T 14: 52,412,816 (GRCm39) M559K probably benign Het
Tas1r2 A G 4: 139,396,886 (GRCm39) T742A probably damaging Het
Tbc1d5 T C 17: 51,107,156 (GRCm39) K467E probably damaging Het
Tet3 A G 6: 83,380,401 (GRCm39) V589A probably damaging Het
Tmem131 A G 1: 36,847,902 (GRCm39) probably benign Het
Tmtc3 A G 10: 100,283,437 (GRCm39) F706S probably benign Het
Tsku T C 7: 98,001,746 (GRCm39) N195S probably damaging Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vmn2r85 T A 10: 130,254,758 (GRCm39) H642L probably damaging Het
Zfc3h1 A G 10: 115,246,428 (GRCm39) probably benign Het
Other mutations in Ptpn20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Ptpn20 APN 14 33,344,576 (GRCm39) missense probably benign 0.22
IGL01510:Ptpn20 APN 14 33,360,343 (GRCm39) splice site probably null
R2057:Ptpn20 UTSW 14 33,352,942 (GRCm39) missense probably damaging 0.98
R2262:Ptpn20 UTSW 14 33,334,268 (GRCm39) missense probably benign
R3106:Ptpn20 UTSW 14 33,334,253 (GRCm39) missense probably benign
R4645:Ptpn20 UTSW 14 33,353,169 (GRCm39) missense probably benign
R4928:Ptpn20 UTSW 14 33,336,446 (GRCm39) missense probably benign 0.00
R4962:Ptpn20 UTSW 14 33,336,416 (GRCm39) missense probably benign 0.02
R5087:Ptpn20 UTSW 14 33,336,398 (GRCm39) missense possibly damaging 0.90
R5163:Ptpn20 UTSW 14 33,353,068 (GRCm39) missense probably benign 0.07
R5275:Ptpn20 UTSW 14 33,353,149 (GRCm39) missense probably benign 0.00
R6325:Ptpn20 UTSW 14 33,352,962 (GRCm39) missense possibly damaging 0.52
R6651:Ptpn20 UTSW 14 33,354,897 (GRCm39) missense probably damaging 1.00
R6831:Ptpn20 UTSW 14 33,354,882 (GRCm39) missense probably damaging 1.00
R6903:Ptpn20 UTSW 14 33,336,461 (GRCm39) missense probably damaging 0.98
R7034:Ptpn20 UTSW 14 33,336,392 (GRCm39) makesense probably null
R7036:Ptpn20 UTSW 14 33,336,392 (GRCm39) makesense probably null
R7265:Ptpn20 UTSW 14 33,336,481 (GRCm39) missense probably benign 0.05
R7654:Ptpn20 UTSW 14 33,360,281 (GRCm39) missense probably benign 0.18
R7735:Ptpn20 UTSW 14 33,352,902 (GRCm39) missense probably damaging 1.00
R7761:Ptpn20 UTSW 14 33,344,509 (GRCm39) missense probably benign 0.18
R8314:Ptpn20 UTSW 14 33,344,504 (GRCm39) missense possibly damaging 0.73
R9356:Ptpn20 UTSW 14 33,352,865 (GRCm39) nonsense probably null
R9690:Ptpn20 UTSW 14 33,353,176 (GRCm39) missense probably benign 0.31
Predicted Primers PCR Primer
(F):5'- CAGGATATGCAGTTTGTGATCAG -3'
(R):5'- TTCCAGCAACAGGGAGAATG -3'

Sequencing Primer
(F):5'- ATCAGGTGTTAAATTTAGAGTTACCC -3'
(R):5'- TGCCTTAATAAAATCCA -3'
Posted On 2015-02-18