Incidental Mutation 'R4368:Ptpn21'
ID 325863
Institutional Source Beutler Lab
Gene Symbol Ptpn21
Ensembl Gene ENSMUSG00000021009
Gene Name protein tyrosine phosphatase, non-receptor type 21
Synonyms PTPRL10, PTPD1
MMRRC Submission 041115-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # R4368 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 98643000-98703664 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98644852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 1163 (Y1163C)
Ref Sequence ENSEMBL: ENSMUSP00000126975 (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: Y1163C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082197
Gene: ENSMUSG00000021009
AA Change: Y1163C

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: Y1163C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126975
Gene: ENSMUSG00000021009
AA Change: Y1163C

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223321
Meta Mutation Damage Score 0.7761 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 98% (46/47)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449A18Rik A G 3: 59,754,199 (GRCm39) noncoding transcript Het
Aadacl2fm2 T C 3: 59,659,387 (GRCm39) F280S probably damaging Het
Adamts7 G A 9: 90,077,904 (GRCm39) probably null Het
Adgrv1 A C 13: 81,641,029 (GRCm39) S3335R unknown Het
Armc6 G A 8: 70,677,943 (GRCm39) L129F probably benign Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Bltp1 C T 3: 37,042,296 (GRCm39) Q2761* probably null Het
Cdh19 G A 1: 110,817,442 (GRCm39) Q767* probably null Het
Cep120 G A 18: 53,818,957 (GRCm39) probably null Het
Dhx38 C T 8: 110,279,763 (GRCm39) V976I probably damaging Het
Efr3a T A 15: 65,738,629 (GRCm39) F753I possibly damaging Het
Hspb7 A T 4: 141,151,329 (GRCm39) E157V probably damaging Het
Irx6 A G 8: 93,405,029 (GRCm39) E299G probably damaging Het
Jhy T A 9: 40,828,440 (GRCm39) N489Y possibly damaging Het
Klhl22 T C 16: 17,607,137 (GRCm39) V481A possibly damaging Het
Mapk13 A G 17: 28,996,539 (GRCm39) probably null Het
Meis1 A T 11: 18,960,656 (GRCm39) probably benign Het
Nlrp14 A G 7: 106,797,012 (GRCm39) K301E probably benign Het
Nol10 T C 12: 17,429,293 (GRCm39) Y340H probably damaging Het
Or2k2 T C 4: 58,785,153 (GRCm39) S190G probably benign Het
Paqr3 T C 5: 97,256,150 (GRCm39) S75G probably damaging Het
Pdgfa T C 5: 138,972,061 (GRCm39) T113A probably damaging Het
Phactr2 A G 10: 13,129,564 (GRCm39) S235P probably damaging Het
Psph T G 5: 129,848,654 (GRCm39) K9T probably benign Het
Scaf8 T C 17: 3,221,470 (GRCm39) L319P unknown Het
Slc4a7 C T 14: 14,733,775 (GRCm38) R62W probably damaging Het
Slc6a3 C A 13: 73,709,031 (GRCm39) C318* probably null Het
Speer3 C G 5: 13,846,394 (GRCm39) A238G possibly damaging Het
Taf1c A C 8: 120,326,055 (GRCm39) S602R possibly damaging Het
Tiam2 A G 17: 3,464,958 (GRCm39) D229G probably benign Het
Tor1a A G 2: 30,857,382 (GRCm39) probably benign Het
Trim45 T C 3: 100,830,502 (GRCm39) I92T probably damaging Het
Ttll8 G A 15: 88,798,384 (GRCm39) P784S possibly damaging Het
Tubg1 G T 11: 101,016,190 (GRCm39) probably null Het
Vmn1r178 A T 7: 23,593,447 (GRCm39) N92I probably damaging Het
Vmn2r87 A G 10: 130,315,676 (GRCm39) V130A probably benign Het
Wdr46 A G 17: 34,160,120 (GRCm39) probably benign Het
Yme1l1 A G 2: 23,050,223 (GRCm39) H18R possibly damaging Het
Zfp263 T A 16: 3,562,770 (GRCm39) probably benign Het
Zfp534 T C 4: 147,760,015 (GRCm39) D218G probably benign Het
Zscan12 T C 13: 21,553,553 (GRCm39) V459A probably benign 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
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'- TCTTGCTTAGCACACTGCCG -3'
(R):5'- ATCTTAGCCCATCACGGAGGAC -3'

Sequencing Primer
(F):5'- TTAGCACACTGCCGGGTCAG -3'
(R):5'- ACTCTCGGGTAGACAGTCTG -3'
Posted On 2015-07-06