Incidental Mutation 'R6485:Ptpn21'
ID 517314
Institutional Source Beutler Lab
Gene Symbol Ptpn21
Ensembl Gene ENSMUSG00000021009
Gene Name protein tyrosine phosphatase, non-receptor type 21
Synonyms PTPRL10, PTPD1
MMRRC Submission 044617-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # R6485 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 98643000-98703664 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 98665131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 297 (C297*)
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 null
Transcript: ENSMUST00000085116
AA Change: C297*
SMART Domains Protein: ENSMUSP00000082197
Gene: ENSMUSG00000021009
AA Change: C297*

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 null
Transcript: ENSMUST00000170188
AA Change: C297*
SMART Domains Protein: ENSMUSP00000126975
Gene: ENSMUSG00000021009
AA Change: C297*

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 null
Transcript: ENSMUST00000221148
AA Change: C297*
Predicted Effect probably null
Transcript: ENSMUST00000221535
AA Change: C297*
Predicted Effect probably null
Transcript: ENSMUST00000221932
AA Change: C297*
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.1%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 C A 7: 120,026,390 (GRCm39) Y117* probably null Het
Acot5 A T 12: 84,122,258 (GRCm39) R281W probably damaging Het
Adamts20 T C 15: 94,241,852 (GRCm39) T719A probably benign Het
Arhgap33 T C 7: 30,223,429 (GRCm39) T867A probably benign Het
Bcl2a1c T C 9: 114,159,278 (GRCm39) Y19H probably benign Het
Bod1l A G 5: 41,974,459 (GRCm39) I2285T possibly damaging Het
Cacna2d1 A G 5: 16,559,655 (GRCm39) Y755C probably damaging Het
Cdc27 T C 11: 104,396,474 (GRCm39) T816A probably benign Het
Clasrp C A 7: 19,320,294 (GRCm39) probably benign Het
Col6a4 A G 9: 105,954,069 (GRCm39) probably null Het
Cpd T C 11: 76,699,533 (GRCm39) probably null Het
Crispld2 A G 8: 120,756,048 (GRCm39) D339G probably damaging Het
Dst A G 1: 34,333,610 (GRCm39) D7046G probably damaging Het
Erbin G T 13: 104,004,621 (GRCm39) Q136K probably damaging Het
Exph5 G A 9: 53,287,991 (GRCm39) E1691K possibly damaging Het
Fads6 A G 11: 115,176,264 (GRCm39) F187S probably benign Het
Foxg1 A T 12: 49,431,863 (GRCm39) I199F probably damaging Het
Garem1 T C 18: 21,262,894 (GRCm39) D640G probably benign Het
Gba2 A C 4: 43,574,118 (GRCm39) Y112D probably damaging Het
Gcfc2 T C 6: 81,916,528 (GRCm39) I323T probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gria4 T A 9: 4,464,249 (GRCm39) Y571F probably damaging Het
Large2 T C 2: 92,196,373 (GRCm39) T485A probably benign Het
Lonrf1 A G 8: 36,696,288 (GRCm39) probably null Het
Mrgprb5 T C 7: 47,818,525 (GRCm39) N70S probably damaging Het
Muc2 T A 7: 141,300,473 (GRCm39) probably benign Het
Nol4 T C 18: 22,903,850 (GRCm39) D375G probably damaging Het
Or2b2 A G 13: 21,887,600 (GRCm39) Q143R probably benign Het
Pcnt G T 10: 76,225,164 (GRCm39) S1780* probably null Het
Pdgfra A T 5: 75,335,735 (GRCm39) probably null Het
Pgd A T 4: 149,240,876 (GRCm39) probably null Het
Pla2g6 T C 15: 79,191,572 (GRCm39) I279V probably benign Het
Ripply1 TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT TTCCTCCTCCTCCTCCTCCTCCTCCTCCT X: 138,680,599 (GRCm39) probably benign Het
Rtcb T C 10: 85,793,508 (GRCm39) I22V probably benign Het
Slc25a30 G T 14: 76,012,447 (GRCm39) A67E probably damaging Het
Stk11ip T C 1: 75,506,612 (GRCm39) V605A possibly damaging Het
Ush1c A T 7: 45,858,534 (GRCm39) S585T probably benign Het
Vps13a T C 19: 16,657,414 (GRCm39) D1785G probably damaging Het
Zic5 T A 14: 122,697,052 (GRCm39) Y521F unknown 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
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'- CCTTCAAGGATGAGGAGGTG -3'
(R):5'- TCACTGTGGGGATGAGAGAGTC -3'

Sequencing Primer
(F):5'- CTCACTCAGTGGGGAGTATGACTC -3'
(R):5'- CACTGTGGGGATGAGGGAGTC -3'
Posted On 2018-05-21