Incidental Mutation 'R7960:Ptpn5'
ID 650056
Institutional Source Beutler Lab
Gene Symbol Ptpn5
Ensembl Gene ENSMUSG00000030854
Gene Name protein tyrosine phosphatase, non-receptor type 5
Synonyms Step
MMRRC Submission 046004-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7960 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 46727543-46783432 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 46729295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 440 (T440S)
Ref Sequence ENSEMBL: ENSMUSP00000033142 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033142] [ENSMUST00000102626]
AlphaFold P54830
Predicted Effect possibly damaging
Transcript: ENSMUST00000033142
AA Change: T440S

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000033142
Gene: ENSMUSG00000030854
AA Change: T440S

DomainStartEndE-ValueType
low complexity region 26 51 N/A INTRINSIC
low complexity region 121 138 N/A INTRINSIC
low complexity region 141 155 N/A INTRINSIC
PTPc 275 533 2.39e-115 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000102626
AA Change: T440S

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099686
Gene: ENSMUSG00000030854
AA Change: T440S

DomainStartEndE-ValueType
low complexity region 26 51 N/A INTRINSIC
low complexity region 121 138 N/A INTRINSIC
low complexity region 141 155 N/A INTRINSIC
PTPc 275 533 2.39e-115 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (71/72)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit normal brain development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004F10Rik T C 7: 115,702,481 (GRCm39) S82P possibly damaging Het
Ablim2 A C 5: 36,014,493 (GRCm39) E450A probably benign Het
Acacb G T 5: 114,368,922 (GRCm39) M1713I probably benign Het
Acbd6 C A 1: 155,562,766 (GRCm39) Q256K probably benign Het
Agbl2 A T 2: 90,621,975 (GRCm39) N154I probably benign Het
Ahcyl2 A G 6: 29,870,626 (GRCm39) N181D probably benign Het
Aldh18a1 A T 19: 40,546,264 (GRCm39) D544E probably benign Het
Anapc1 A T 2: 128,516,513 (GRCm39) L407Q probably damaging Het
Arhgap26 T A 18: 39,362,980 (GRCm39) V34D Het
Brd3 A T 2: 27,342,945 (GRCm39) S516T probably benign Het
Bsn A G 9: 107,992,747 (GRCm39) S1002P probably damaging Het
C4b G T 17: 34,960,252 (GRCm39) probably null Het
Camta1 T C 4: 151,232,990 (GRCm39) T228A probably benign Het
Cct6b T C 11: 82,632,221 (GRCm39) K256E possibly damaging Het
Cep85l T A 10: 53,172,403 (GRCm39) Q552L probably benign Het
Col6a5 A G 9: 105,823,049 (GRCm39) F103L unknown Het
Copb2 A G 9: 98,462,407 (GRCm39) Q464R possibly damaging Het
Dlc1 G T 8: 37,404,989 (GRCm39) H267N probably benign Het
Dnajb2 T C 1: 75,218,055 (GRCm39) I184T Het
Dnajc9 C T 14: 20,438,764 (GRCm39) E30K possibly damaging Het
Dock1 T C 7: 134,678,917 (GRCm39) L1012P possibly damaging Het
Dtnbp1 T C 13: 45,106,650 (GRCm39) K170R probably benign Het
F13b T A 1: 139,431,509 (GRCm39) C26* probably null Het
Ficd G T 5: 113,877,020 (GRCm39) E398D probably benign Het
G6pc1 G A 11: 101,267,359 (GRCm39) G270R probably damaging Het
Garin4 T A 1: 190,895,645 (GRCm39) T333S probably benign Het
Gm3604 T C 13: 62,517,587 (GRCm39) Y257C probably damaging Het
Hmcn1 T A 1: 150,531,606 (GRCm39) Y3221F probably damaging Het
Hs3st3b1 C T 11: 63,812,694 (GRCm39) G7D possibly damaging Het
Htr3b A T 9: 48,856,852 (GRCm39) S209T probably benign Het
Ift70a1 A T 2: 75,811,188 (GRCm39) D298E probably benign Het
Iglon5 T A 7: 43,126,326 (GRCm39) E192D probably benign Het
Inpp5f A G 7: 128,295,638 (GRCm39) probably null Het
Kif26b T A 1: 178,506,484 (GRCm39) C187S probably damaging Het
Klhl11 A G 11: 100,354,805 (GRCm39) S339P probably benign Het
Klk14 G A 7: 43,341,467 (GRCm39) A40T probably damaging Het
Kmt2c G A 5: 25,520,194 (GRCm39) T1972I probably benign Het
Lama2 T C 10: 26,869,094 (GRCm39) T2784A probably benign Het
Loxhd1 T A 18: 77,472,746 (GRCm39) F1088I probably damaging Het
Map2k2 G A 10: 80,954,968 (GRCm39) R185Q probably benign Het
Mbd5 G A 2: 49,169,796 (GRCm39) probably null Het
Mdc1 A T 17: 36,161,570 (GRCm39) R828* probably null Het
Nrp2 C T 1: 62,784,567 (GRCm39) R239C probably damaging Het
Or5g25 A G 2: 85,478,417 (GRCm39) S83P possibly damaging Het
Parp4 C A 14: 56,832,708 (GRCm39) probably null Het
Pbk T A 14: 66,046,650 (GRCm39) probably null Het
Phip A T 9: 82,775,401 (GRCm39) D1060E probably benign Het
Pik3c2b T A 1: 133,031,587 (GRCm39) L1509Q probably damaging Het
Pik3r5 T A 11: 68,386,796 (GRCm39) F808L probably benign Het
Plcl1 T A 1: 55,736,443 (GRCm39) S595T possibly damaging Het
Plxna2 AT A 1: 194,476,172 (GRCm39) probably null Het
Pole A G 5: 110,437,727 (GRCm39) K95R possibly damaging Het
Poteg A G 8: 27,946,888 (GRCm39) T259A probably benign Het
Pramel52-ps A G 5: 94,531,739 (GRCm39) M208V probably benign Het
Ptpn12 G T 5: 21,260,687 (GRCm39) P20Q probably benign Het
Ptpru T C 4: 131,515,820 (GRCm39) R845G probably benign Het
Rasgrp2 G T 19: 6,464,839 (GRCm39) V596L probably benign Het
Rcbtb2 T G 14: 73,399,384 (GRCm39) V16G probably benign Het
Rel T C 11: 23,694,493 (GRCm39) N289S probably damaging Het
Rpn1 T A 6: 88,079,068 (GRCm39) Y504N probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,124 (GRCm39) probably benign Het
Scaf8 G A 17: 3,221,397 (GRCm39) V295M unknown Het
Skic3 T C 13: 76,260,318 (GRCm39) C87R probably benign Het
Slc25a48 T A 13: 56,611,411 (GRCm39) Y173N probably damaging Het
Slc8a3 C T 12: 81,263,506 (GRCm39) S627N probably benign Het
Snx8 T A 5: 140,343,848 (GRCm39) M123L probably benign Het
Sri A T 5: 8,114,586 (GRCm39) Q180H probably benign Het
Sycp2 T A 2: 178,046,453 (GRCm39) R4S probably null Het
Tcstv1a G A 13: 120,355,521 (GRCm39) T37I possibly damaging Het
Tnnc2 A T 2: 164,619,704 (GRCm39) D87E probably benign Het
Trim7 A T 11: 48,728,628 (GRCm39) N92I probably damaging Het
Trpv6 C T 6: 41,604,612 (GRCm39) D97N probably benign Het
Ulk4 A G 9: 121,102,022 (GRCm39) Y19H probably damaging Het
Vmn2r69 C T 7: 85,055,973 (GRCm39) V722I probably benign Het
Zan T C 5: 137,407,865 (GRCm39) D3643G unknown Het
Zan G A 5: 137,463,154 (GRCm39) T675I unknown Het
Other mutations in Ptpn5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01508:Ptpn5 APN 7 46,741,303 (GRCm39) missense probably benign 0.00
IGL01557:Ptpn5 APN 7 46,731,636 (GRCm39) missense probably damaging 1.00
IGL01691:Ptpn5 APN 7 46,732,906 (GRCm39) missense probably benign 0.27
IGL02051:Ptpn5 APN 7 46,732,507 (GRCm39) critical splice donor site probably null
PIT4696001:Ptpn5 UTSW 7 46,738,354 (GRCm39) missense probably benign
R0309:Ptpn5 UTSW 7 46,729,042 (GRCm39) missense probably damaging 0.97
R0325:Ptpn5 UTSW 7 46,740,507 (GRCm39) missense probably benign
R0325:Ptpn5 UTSW 7 46,740,506 (GRCm39) missense probably benign
R0414:Ptpn5 UTSW 7 46,732,884 (GRCm39) missense probably benign
R0570:Ptpn5 UTSW 7 46,728,681 (GRCm39) splice site probably benign
R0885:Ptpn5 UTSW 7 46,738,359 (GRCm39) missense probably benign 0.08
R1311:Ptpn5 UTSW 7 46,728,980 (GRCm39) splice site probably benign
R1501:Ptpn5 UTSW 7 46,739,623 (GRCm39) missense probably benign 0.26
R1772:Ptpn5 UTSW 7 46,740,516 (GRCm39) missense probably benign 0.00
R1815:Ptpn5 UTSW 7 46,728,589 (GRCm39) missense probably benign
R1913:Ptpn5 UTSW 7 46,728,616 (GRCm39) missense possibly damaging 0.92
R2109:Ptpn5 UTSW 7 46,735,807 (GRCm39) missense probably damaging 0.99
R2112:Ptpn5 UTSW 7 46,732,890 (GRCm39) missense probably benign 0.00
R2184:Ptpn5 UTSW 7 46,738,350 (GRCm39) missense probably damaging 0.99
R4244:Ptpn5 UTSW 7 46,741,296 (GRCm39) nonsense probably null
R4551:Ptpn5 UTSW 7 46,740,600 (GRCm39) intron probably benign
R5353:Ptpn5 UTSW 7 46,731,642 (GRCm39) missense probably benign 0.03
R5897:Ptpn5 UTSW 7 46,729,262 (GRCm39) missense probably benign 0.41
R6442:Ptpn5 UTSW 7 46,732,831 (GRCm39) splice site probably null
R7549:Ptpn5 UTSW 7 46,735,874 (GRCm39) critical splice acceptor site probably null
R9308:Ptpn5 UTSW 7 46,740,569 (GRCm39) missense probably benign 0.07
R9580:Ptpn5 UTSW 7 46,732,622 (GRCm39) missense probably damaging 1.00
Z1176:Ptpn5 UTSW 7 46,735,870 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGAAGCAGCCAGTTCTCCC -3'
(R):5'- GGGACTACAGATTCCCTACTCTC -3'

Sequencing Primer
(F):5'- TCCCAATCCCTGCACTGAGG -3'
(R):5'- GACTACAGATTCCCTACTCTCATTCC -3'
Posted On 2020-09-15