Incidental Mutation 'R0472:Ptpn21'
ID 46842
Institutional Source Beutler Lab
Gene Symbol Ptpn21
Ensembl Gene ENSMUSG00000021009
Gene Name protein tyrosine phosphatase, non-receptor type 21
Synonyms PTPRL10, PTPD1
MMRRC Submission 038672-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # R0472 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 98643000-98703664 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 98670499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085116] [ENSMUST00000170188] [ENSMUST00000221148] [ENSMUST00000221535] [ENSMUST00000221932]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000085116
SMART Domains Protein: ENSMUSP00000082197
Gene: ENSMUSG00000021009

DomainStartEndE-ValueType
B41 19 222 5.04e-69 SMART
FERM_C 226 312 4.66e-26 SMART
low complexity region 332 343 N/A INTRINSIC
low complexity region 563 574 N/A INTRINSIC
low complexity region 710 724 N/A INTRINSIC
PTPc 897 1171 7.31e-111 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170188
SMART Domains Protein: ENSMUSP00000126975
Gene: ENSMUSG00000021009

DomainStartEndE-ValueType
B41 19 222 5.04e-69 SMART
FERM_C 226 312 4.66e-26 SMART
low complexity region 332 343 N/A INTRINSIC
low complexity region 563 574 N/A INTRINSIC
low complexity region 710 724 N/A INTRINSIC
PTPc 897 1171 7.31e-111 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000221148
Predicted Effect probably benign
Transcript: ENSMUST00000221535
Predicted Effect probably benign
Transcript: ENSMUST00000221932
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 97% (65/67)
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 PTP contains an N-terminal domain, similar to cytoskeletal- associated proteins including band 4.1, ezrin, merlin, and radixin. This PTP was shown to specially interact with BMX/ETK, a member of Tec tyrosine kinase family characterized by a multimodular structures including PH, SH3, and SH2 domains. The interaction of this PTP with BMX kinase was found to increase the activation of STAT3, but not STAT2 kinase. Studies of the similar gene in mice suggested the possible roles of this PTP in liver regeneration and spermatogenesis. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700128F08Rik A G 9: 8,222,123 (GRCm39) noncoding transcript Het
AI182371 T C 2: 34,975,218 (GRCm39) N337S probably benign Het
Aldh3b1 C T 19: 3,964,024 (GRCm39) R426H probably damaging Het
Arap2 A G 5: 62,864,002 (GRCm39) F541L probably damaging Het
Asap2 G T 12: 21,263,186 (GRCm39) R267L possibly damaging Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Bmp8b T A 4: 123,015,692 (GRCm39) D226E probably benign Het
C1ra T A 6: 124,494,403 (GRCm39) D283E possibly damaging Het
Cacul1 G T 19: 60,531,464 (GRCm39) H268Q probably damaging Het
Cd9 T C 6: 125,449,396 (GRCm39) N49D probably benign Het
Cdc42bpa A G 1: 179,867,744 (GRCm39) H193R probably damaging Het
Cep290 G A 10: 100,387,317 (GRCm39) G1935E probably benign Het
Cep350 A T 1: 155,790,469 (GRCm39) I1362N probably damaging Het
Chchd7 A T 4: 3,943,416 (GRCm39) N61I possibly damaging Het
Clca3a1 A T 3: 144,733,106 (GRCm39) L134Q probably damaging Het
Clec2j T C 6: 128,633,565 (GRCm39) noncoding transcript Het
Clvs1 G A 4: 9,281,801 (GRCm39) A82T probably damaging Het
Csn1s1 A T 5: 87,825,486 (GRCm39) Y231F possibly damaging Het
Cyp2c55 A T 19: 39,019,823 (GRCm39) T254S probably benign Het
Decr1 A G 4: 15,919,849 (GRCm39) S290P probably damaging Het
Dnai2 T A 11: 114,636,015 (GRCm39) probably benign Het
Dock4 C A 12: 40,888,437 (GRCm39) probably benign Het
Dst T C 1: 34,306,041 (GRCm39) probably null Het
Elmo2 A G 2: 165,140,250 (GRCm39) I315T probably damaging Het
Fcho2 A G 13: 98,884,775 (GRCm39) F431L probably benign Het
Fez2 A G 17: 78,692,261 (GRCm39) probably benign Het
Gas2l3 C T 10: 89,262,339 (GRCm39) A128T probably damaging Het
Hpse2 T C 19: 43,001,602 (GRCm39) I222M probably damaging Het
Katnip A G 7: 125,472,139 (GRCm39) N1548S probably damaging Het
Kcna2 A G 3: 107,012,832 (GRCm39) D471G probably benign Het
Kcnj13 T A 1: 87,314,568 (GRCm39) Y218F probably benign Het
Kif1a T C 1: 92,946,719 (GRCm39) H1763R probably damaging Het
Krt1c C T 15: 101,721,688 (GRCm39) R451H probably damaging Het
Lama2 A G 10: 26,866,863 (GRCm39) V2877A probably damaging Het
Lrrc2 A T 9: 110,791,685 (GRCm39) M80L probably benign Het
Naip6 A G 13: 100,438,768 (GRCm39) V343A probably benign Het
Nedd4l T C 18: 65,341,532 (GRCm39) Y753H probably damaging Het
Nif3l1 A C 1: 58,486,987 (GRCm39) S58R probably damaging Het
Or51h7 A T 7: 102,591,258 (GRCm39) C175* probably null Het
Or5w20 T A 2: 87,726,837 (GRCm39) V98E possibly damaging Het
Or9r3 G A 10: 129,948,449 (GRCm39) S70F probably damaging Het
Osbpl11 C A 16: 33,054,814 (GRCm39) Y632* probably null Het
Pask A T 1: 93,248,639 (GRCm39) D920E probably benign Het
Pclo T C 5: 14,731,608 (GRCm39) V3370A unknown Het
Rph3al T C 11: 75,799,795 (GRCm39) I55V probably benign Het
Rsad2 T G 12: 26,504,167 (GRCm39) I121L possibly damaging Het
Sergef T G 7: 46,283,170 (GRCm39) probably benign Het
Sp110 C T 1: 85,516,841 (GRCm39) E219K possibly damaging Het
Tas2r104 T C 6: 131,662,434 (GRCm39) I92V probably benign Het
Tasor2 A G 13: 3,638,364 (GRCm39) S456P possibly damaging Het
Tbc1d23 T A 16: 56,993,469 (GRCm39) I566F possibly damaging Het
Tbc1d9b A G 11: 50,059,055 (GRCm39) probably null Het
Tie1 T A 4: 118,333,344 (GRCm39) I841L possibly damaging Het
Tpo A G 12: 30,150,485 (GRCm39) V465A probably benign Het
Ttll3 A T 6: 113,386,300 (GRCm39) Q711L probably damaging Het
Ttn C T 2: 76,783,385 (GRCm39) R869H probably benign Het
Uggt2 A G 14: 119,332,748 (GRCm39) V62A probably damaging Het
Usp34 T C 11: 23,334,509 (GRCm39) probably benign Het
Vmn1r17 C A 6: 57,338,304 (GRCm39) M20I probably benign Het
Vmn1r71 G C 7: 10,482,019 (GRCm39) S223C possibly damaging Het
Vmn2r120 C T 17: 57,831,518 (GRCm39) V424I probably benign Het
Vps13b T C 15: 35,417,779 (GRCm39) probably null Het
Wdfy3 C A 5: 102,105,309 (GRCm39) A173S probably benign Het
Wdr59 T C 8: 112,213,629 (GRCm39) probably null Het
Ythdc2 A T 18: 44,997,424 (GRCm39) M994L probably benign Het
Zfp808 T A 13: 62,320,120 (GRCm39) F450I probably damaging Het
Other mutations in Ptpn21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Ptpn21 APN 12 98,646,727 (GRCm39) missense probably damaging 1.00
IGL00576:Ptpn21 APN 12 98,699,860 (GRCm39) missense probably damaging 1.00
IGL00577:Ptpn21 APN 12 98,699,860 (GRCm39) missense probably damaging 1.00
IGL00580:Ptpn21 APN 12 98,699,860 (GRCm39) missense probably damaging 1.00
IGL00583:Ptpn21 APN 12 98,699,860 (GRCm39) missense probably damaging 1.00
IGL00773:Ptpn21 APN 12 98,654,572 (GRCm39) missense probably benign 0.00
IGL00780:Ptpn21 APN 12 98,646,630 (GRCm39) missense probably damaging 1.00
IGL01516:Ptpn21 APN 12 98,681,448 (GRCm39) missense probably damaging 1.00
IGL01616:Ptpn21 APN 12 98,646,272 (GRCm39) missense probably damaging 1.00
IGL01939:Ptpn21 APN 12 98,655,420 (GRCm39) missense probably damaging 0.96
IGL02237:Ptpn21 APN 12 98,671,351 (GRCm39) critical splice donor site probably null
IGL02512:Ptpn21 APN 12 98,645,651 (GRCm39) missense probably benign 0.00
IGL02852:Ptpn21 APN 12 98,681,454 (GRCm39) critical splice acceptor site probably null
IGL02894:Ptpn21 APN 12 98,655,891 (GRCm39) splice site probably benign
IGL03024:Ptpn21 APN 12 98,646,315 (GRCm39) missense probably benign
IGL03220:Ptpn21 APN 12 98,644,882 (GRCm39) missense probably damaging 1.00
R0144:Ptpn21 UTSW 12 98,654,868 (GRCm39) missense probably benign 0.01
R0675:Ptpn21 UTSW 12 98,654,475 (GRCm39) missense probably benign 0.16
R0771:Ptpn21 UTSW 12 98,655,339 (GRCm39) missense probably damaging 1.00
R1434:Ptpn21 UTSW 12 98,654,849 (GRCm39) missense probably damaging 1.00
R1470:Ptpn21 UTSW 12 98,654,735 (GRCm39) missense probably benign
R1470:Ptpn21 UTSW 12 98,654,735 (GRCm39) missense probably benign
R1837:Ptpn21 UTSW 12 98,699,885 (GRCm39) missense probably damaging 0.99
R1897:Ptpn21 UTSW 12 98,646,664 (GRCm39) splice site probably null
R2048:Ptpn21 UTSW 12 98,655,785 (GRCm39) missense possibly damaging 0.94
R2376:Ptpn21 UTSW 12 98,654,573 (GRCm39) missense possibly damaging 0.62
R3709:Ptpn21 UTSW 12 98,654,800 (GRCm39) missense probably benign
R4197:Ptpn21 UTSW 12 98,646,397 (GRCm39) missense probably damaging 1.00
R4283:Ptpn21 UTSW 12 98,699,734 (GRCm39) missense probably damaging 0.99
R4368:Ptpn21 UTSW 12 98,644,852 (GRCm39) missense probably damaging 1.00
R4397:Ptpn21 UTSW 12 98,681,319 (GRCm39) missense probably damaging 0.98
R4397:Ptpn21 UTSW 12 98,654,507 (GRCm39) missense probably damaging 1.00
R4703:Ptpn21 UTSW 12 98,645,651 (GRCm39) missense probably benign 0.00
R4737:Ptpn21 UTSW 12 98,675,103 (GRCm39) missense probably benign 0.03
R4829:Ptpn21 UTSW 12 98,655,555 (GRCm39) missense probably damaging 1.00
R4926:Ptpn21 UTSW 12 98,681,454 (GRCm39) critical splice acceptor site probably null
R4974:Ptpn21 UTSW 12 98,646,362 (GRCm39) missense probably damaging 1.00
R5022:Ptpn21 UTSW 12 98,645,666 (GRCm39) missense probably damaging 1.00
R5057:Ptpn21 UTSW 12 98,645,666 (GRCm39) missense probably damaging 1.00
R5395:Ptpn21 UTSW 12 98,681,376 (GRCm39) missense probably damaging 1.00
R5608:Ptpn21 UTSW 12 98,655,036 (GRCm39) missense probably benign 0.00
R5741:Ptpn21 UTSW 12 98,645,548 (GRCm39) missense probably damaging 1.00
R5785:Ptpn21 UTSW 12 98,648,809 (GRCm39) missense probably damaging 0.99
R5959:Ptpn21 UTSW 12 98,675,148 (GRCm39) splice site probably null
R5968:Ptpn21 UTSW 12 98,677,149 (GRCm39) missense probably damaging 1.00
R5984:Ptpn21 UTSW 12 98,655,335 (GRCm39) missense probably damaging 1.00
R6005:Ptpn21 UTSW 12 98,644,811 (GRCm39) makesense probably null
R6181:Ptpn21 UTSW 12 98,666,258 (GRCm39) missense probably damaging 0.99
R6226:Ptpn21 UTSW 12 98,681,431 (GRCm39) missense probably damaging 1.00
R6226:Ptpn21 UTSW 12 98,646,375 (GRCm39) missense probably benign 0.24
R6317:Ptpn21 UTSW 12 98,655,521 (GRCm39) missense probably damaging 1.00
R6370:Ptpn21 UTSW 12 98,655,293 (GRCm39) missense possibly damaging 0.86
R6485:Ptpn21 UTSW 12 98,665,131 (GRCm39) nonsense probably null
R6894:Ptpn21 UTSW 12 98,681,440 (GRCm39) missense probably damaging 1.00
R7122:Ptpn21 UTSW 12 98,655,171 (GRCm39) missense probably damaging 0.99
R7232:Ptpn21 UTSW 12 98,654,996 (GRCm39) missense probably benign 0.17
R7289:Ptpn21 UTSW 12 98,670,450 (GRCm39) missense probably benign 0.35
R7327:Ptpn21 UTSW 12 98,646,360 (GRCm39) missense probably damaging 1.00
R7474:Ptpn21 UTSW 12 98,703,622 (GRCm39) critical splice donor site probably null
R7748:Ptpn21 UTSW 12 98,655,031 (GRCm39) missense probably benign 0.01
R7816:Ptpn21 UTSW 12 98,648,791 (GRCm39) missense probably damaging 1.00
R7867:Ptpn21 UTSW 12 98,671,435 (GRCm39) missense probably damaging 1.00
R7878:Ptpn21 UTSW 12 98,681,387 (GRCm39) missense probably damaging 1.00
R7911:Ptpn21 UTSW 12 98,655,101 (GRCm39) missense probably damaging 0.99
R8100:Ptpn21 UTSW 12 98,648,881 (GRCm39) missense possibly damaging 0.61
R8199:Ptpn21 UTSW 12 98,644,841 (GRCm39) missense possibly damaging 0.92
R8272:Ptpn21 UTSW 12 98,654,789 (GRCm39) missense probably benign
R8481:Ptpn21 UTSW 12 98,655,153 (GRCm39) missense probably benign 0.03
R8535:Ptpn21 UTSW 12 98,646,285 (GRCm39) missense probably damaging 0.98
R8775:Ptpn21 UTSW 12 98,649,001 (GRCm39) critical splice acceptor site probably null
R8775-TAIL:Ptpn21 UTSW 12 98,649,001 (GRCm39) critical splice acceptor site probably null
R8929:Ptpn21 UTSW 12 98,655,396 (GRCm39) missense probably damaging 0.99
R8969:Ptpn21 UTSW 12 98,655,284 (GRCm39) missense probably benign 0.39
R9189:Ptpn21 UTSW 12 98,655,261 (GRCm39) missense probably damaging 1.00
R9781:Ptpn21 UTSW 12 98,655,170 (GRCm39) missense probably damaging 1.00
Z1177:Ptpn21 UTSW 12 98,654,717 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- ACAGTGCCTTCCTACTGCATAGCC -3'
(R):5'- AAAAGTGCCCATGCTCCTCCTGTC -3'

Sequencing Primer
(F):5'- GCAAAGAATAGCTTCTCTGTGGC -3'
(R):5'- GAAGTAGATGCGTTTGTCGC -3'
Posted On 2013-06-11