Incidental Mutation 'R9189:Ptpn21'
ID 697628
Institutional Source Beutler Lab
Gene Symbol Ptpn21
Ensembl Gene ENSMUSG00000021009
Gene Name protein tyrosine phosphatase, non-receptor type 21
Synonyms PTPRL10, PTPD1
MMRRC Submission 068951-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # R9189 (G1)
Quality Score 220.009
Status Not validated
Chromosome 12
Chromosomal Location 98643000-98703664 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98655261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 569 (Y569H)
Ref Sequence ENSEMBL: ENSMUSP00000082197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085116] [ENSMUST00000170188] [ENSMUST00000221148] [ENSMUST00000221535] [ENSMUST00000221932]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000085116
AA Change: Y569H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000082197
Gene: ENSMUSG00000021009
AA Change: Y569H

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 damaging
Transcript: ENSMUST00000170188
AA Change: Y569H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126975
Gene: ENSMUSG00000021009
AA Change: Y569H

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 damaging
Transcript: ENSMUST00000221932
AA Change: Y569H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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 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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox1 T A 11: 116,065,231 (GRCm39) D608V probably damaging Het
Actg1 A T 11: 120,239,013 (GRCm39) C26S unknown Het
Ahnak T A 19: 8,988,247 (GRCm39) V3177E possibly damaging Het
Akap11 G A 14: 78,750,938 (GRCm39) T483I Het
Akr1cl A G 1: 65,063,830 (GRCm39) S120P probably benign Het
Ankle2 G A 5: 110,400,610 (GRCm39) V649M possibly damaging Het
Ankrd55 A T 13: 112,504,570 (GRCm39) I439F probably damaging Het
Asb8 A G 15: 98,040,635 (GRCm39) M9T possibly damaging Het
Ascc1 A T 10: 59,843,645 (GRCm39) Y69F probably benign Het
Atp9a A T 2: 168,518,060 (GRCm39) probably null Het
Cd8b1 T C 6: 71,306,752 (GRCm39) F160L probably benign Het
Cdh23 G A 10: 60,143,306 (GRCm39) A3005V possibly damaging Het
Cep250 A G 2: 155,818,350 (GRCm39) T842A probably benign Het
Cgnl1 T A 9: 71,630,847 (GRCm39) K552* probably null Het
Cntnap4 C T 8: 113,602,600 (GRCm39) T1227M possibly damaging Het
Cobll1 C A 2: 64,981,333 (GRCm39) V86F probably damaging Het
Dchs2 A G 3: 83,255,561 (GRCm39) N2419S probably damaging Het
Dhx30 A T 9: 109,914,494 (GRCm39) L1001* probably null Het
Diaph1 C T 18: 38,024,162 (GRCm39) V559M unknown Het
Dis3l A T 9: 64,217,731 (GRCm39) H783Q probably benign Het
Dock7 T G 4: 98,877,350 (GRCm39) T1063P unknown Het
Dsc1 T C 18: 20,232,214 (GRCm39) T265A possibly damaging Het
Eif2ak4 A T 2: 118,258,393 (GRCm39) Q581L probably damaging Het
Eprs1 A T 1: 185,106,334 (GRCm39) D183V possibly damaging Het
Fads2 G C 19: 10,069,183 (GRCm39) D80E probably benign Het
Fam167b G A 4: 129,470,875 (GRCm39) R158C probably damaging Het
Flnb T A 14: 7,892,976 (GRCm38) I682K possibly damaging Het
Garin4 G A 1: 190,894,900 (GRCm39) T581I possibly damaging Het
Gpatch2l C T 12: 86,291,152 (GRCm39) P112S probably benign Het
Gpn1 T A 5: 31,654,710 (GRCm39) H87Q unknown Het
Greb1l T C 18: 10,499,983 (GRCm39) V350A probably benign Het
Grm5 A T 7: 87,724,024 (GRCm39) K771N probably damaging Het
Gucy2c C T 6: 136,728,045 (GRCm39) S319N probably benign Het
H2bc8 A G 13: 23,755,761 (GRCm39) D52G probably damaging Het
Hcfc2 G T 10: 82,535,041 (GRCm39) A22S probably benign Het
Hnf4a A G 2: 163,393,497 (GRCm39) D39G probably benign Het
Il6st C T 13: 112,635,340 (GRCm39) T584M probably damaging Het
Irf3 T A 7: 44,650,246 (GRCm39) V254E possibly damaging Het
Iws1 G A 18: 32,213,213 (GRCm39) E214K possibly damaging Het
Kank4 T A 4: 98,668,289 (GRCm39) K53* probably null Het
Kcnj11 A T 7: 45,748,176 (GRCm39) F382L possibly damaging Het
Kcnq3 T C 15: 65,867,510 (GRCm39) Y711C probably damaging Het
Kctd3 A G 1: 188,704,636 (GRCm39) S712P possibly damaging Het
Krt20 A G 11: 99,323,087 (GRCm39) I245T possibly damaging Het
Larp1b T C 3: 40,925,039 (GRCm39) I219T probably damaging Het
Lman2l A G 1: 36,478,771 (GRCm39) F114L probably damaging Het
Loxl2 T A 14: 69,929,859 (GRCm39) Y746N possibly damaging Het
Lrrc43 T C 5: 123,646,109 (GRCm39) S628P probably benign Het
Mroh8 A C 2: 157,111,545 (GRCm39) D136E probably damaging Het
Nek8 T A 11: 78,063,342 (GRCm39) M141L probably benign Het
Nr2e1 C A 10: 42,454,268 (GRCm39) R22L probably damaging Het
Nr6a1 C T 2: 38,816,129 (GRCm39) probably null Het
Onecut2 A G 18: 64,473,890 (GRCm39) Y147C probably damaging Het
Or1ad1 T A 11: 50,876,166 (GRCm39) C213S probably damaging Het
Or1j1 T A 2: 36,702,214 (GRCm39) M297L possibly damaging Het
Or5d37 A G 2: 87,924,194 (GRCm39) F29L probably damaging Het
Or5d39 T C 2: 87,979,908 (GRCm39) M152V probably benign Het
Pcdhac2 T C 18: 37,277,316 (GRCm39) F99L probably benign Het
Pcdhga2 T G 18: 37,802,795 (GRCm39) V213G possibly damaging Het
Pgap1 A T 1: 54,519,908 (GRCm39) V909E probably benign Het
Pik3r4 A T 9: 105,547,038 (GRCm39) T939S probably benign Het
Pip4k2c T C 10: 127,035,246 (GRCm39) D374G possibly damaging Het
Plxdc1 A T 11: 97,844,788 (GRCm39) D252E probably benign Het
Pm20d1 A C 1: 131,730,115 (GRCm39) D218A probably damaging Het
Polq C A 16: 36,865,265 (GRCm39) Q706K probably damaging Het
Pram1 A T 17: 33,860,131 (GRCm39) I233F probably benign Het
Prr27 C A 5: 87,990,994 (GRCm39) P202Q probably benign Het
Prss41 A T 17: 24,061,361 (GRCm39) H143Q probably damaging Het
Rad17 T C 13: 100,773,564 (GRCm39) K142E probably damaging Het
Rcan3 T C 4: 135,152,607 (GRCm39) E38G probably benign Het
Rgl3 C A 9: 21,885,356 (GRCm39) R658L possibly damaging Het
Rnf125 T A 18: 21,116,240 (GRCm39) *141K probably null Het
Ros1 G T 10: 52,019,502 (GRCm39) N711K probably damaging Het
Rsph10b T A 5: 143,896,504 (GRCm39) Y421N probably benign Het
Ryr1 C T 7: 28,776,471 (GRCm39) V2222I probably damaging Het
Samsn1 C T 16: 75,656,449 (GRCm39) C333Y probably damaging Het
Slc9a2 G A 1: 40,794,944 (GRCm39) E502K probably benign Het
Stard9 A T 2: 120,533,500 (GRCm39) E3252D possibly damaging Het
Syne1 C A 10: 5,123,008 (GRCm39) R309S probably damaging Het
Syne1 T C 10: 5,172,289 (GRCm39) I5051V probably benign Het
Syngap1 A G 17: 27,183,948 (GRCm39) S1241G probably damaging Het
Tbpl2 T C 2: 23,966,030 (GRCm39) K321R probably damaging Het
Tnrc18 C T 5: 142,717,107 (GRCm39) G2449E probably damaging Het
Trim25 A G 11: 88,901,731 (GRCm39) D342G probably benign Het
Tssk4 T A 14: 55,887,904 (GRCm39) H33Q probably benign Het
Ttc3 G A 16: 94,268,831 (GRCm39) G1971D possibly damaging Het
Tufm C T 7: 126,088,849 (GRCm39) Q347* probably null Het
Ubxn10 G A 4: 138,448,133 (GRCm39) S181F possibly damaging Het
Ushbp1 T C 8: 71,841,539 (GRCm39) E430G probably benign Het
Vmn1r33 T C 6: 66,588,716 (GRCm39) I279M possibly damaging Het
Vmn2r115 T C 17: 23,564,784 (GRCm39) F224L probably damaging Het
Vmn2r23 A T 6: 123,681,323 (GRCm39) H77L probably benign Het
Vps13a T C 19: 16,663,961 (GRCm39) I1481V probably benign Het
Vps35 T C 8: 86,007,898 (GRCm39) N294S possibly damaging Het
Washc3 A T 10: 88,051,916 (GRCm39) T102S probably benign Het
Zfp27 T A 7: 29,595,359 (GRCm39) E202V possibly damaging Het
Zfp58 T C 13: 67,640,035 (GRCm39) H152R possibly damaging Het
Zfr2 T C 10: 81,080,496 (GRCm39) V390A 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
R0472:Ptpn21 UTSW 12 98,670,499 (GRCm39) splice site probably benign
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
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'- TGTGTGAGCCCTGCGATTTC -3'
(R):5'- CTTTAACCTGAACTACAGTTTCCAC -3'

Sequencing Primer
(F):5'- GTGAGCCCTGCGATTTCAATACTG -3'
(R):5'- TACAGTTTCCACAGCCAGTC -3'
Posted On 2022-02-07