Incidental Mutation 'R6317:Ptpn21'
ID 510051
Institutional Source Beutler Lab
Gene Symbol Ptpn21
Ensembl Gene ENSMUSG00000021009
Gene Name protein tyrosine phosphatase, non-receptor type 21
Synonyms PTPRL10, PTPD1
MMRRC Submission 044417-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # R6317 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 98643000-98703664 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 98655521 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 482 (A482E)
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 damaging
Transcript: ENSMUST00000085116
AA Change: A482E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082197
Gene: ENSMUSG00000021009
AA Change: A482E

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: A482E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126975
Gene: ENSMUSG00000021009
AA Change: A482E

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: A482E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 100% (62/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik T C 18: 70,601,264 (GRCm39) N206S probably damaging Het
Abcf2 A T 5: 24,774,156 (GRCm39) Y315* probably null Het
Adck1 T G 12: 88,368,921 (GRCm39) V133G probably damaging Het
Aoc2 T C 11: 101,216,292 (GRCm39) F125S probably damaging Het
As3mt A G 19: 46,713,410 (GRCm39) D319G probably benign Het
Atp1a2 C G 1: 172,116,903 (GRCm39) R238P probably damaging Het
Baz1a T C 12: 55,001,585 (GRCm39) Q145R possibly damaging Het
Bhlhe22 A G 3: 18,109,778 (GRCm39) E276G probably damaging Het
Cdo1 C A 18: 46,861,104 (GRCm39) V36L probably benign Het
Ces1h A G 8: 94,084,046 (GRCm39) F388S unknown Het
Col6a5 T A 9: 105,766,266 (GRCm39) N1885Y probably damaging Het
Corin A T 5: 72,496,388 (GRCm39) C522S probably damaging Het
Csmd1 G T 8: 16,760,658 (GRCm39) T159K possibly damaging Het
Cspg4b T A 13: 113,504,802 (GRCm39) L1977H probably benign Het
Cwc27 T A 13: 104,940,769 (GRCm39) K197* probably null Het
Cyp20a1 T C 1: 60,391,283 (GRCm39) S26P probably damaging Het
Daxx T A 17: 34,130,949 (GRCm39) D321E probably damaging Het
Gria2 A C 3: 80,648,311 (GRCm39) Y142D possibly damaging Het
Gspt1 T C 16: 11,041,072 (GRCm39) probably null Het
Ighv1-80 A T 12: 115,876,265 (GRCm39) V17D probably damaging Het
Ints4 T A 7: 97,178,425 (GRCm39) L675* probably null Het
Kif13a C T 13: 46,980,233 (GRCm39) R173Q probably damaging Het
Map3k2 T C 18: 32,336,086 (GRCm39) I91T probably damaging Het
Map3k8 A G 18: 4,348,979 (GRCm39) probably null Het
Mcemp1 G A 8: 3,717,284 (GRCm39) W101* probably null Het
Naca T C 10: 127,879,993 (GRCm39) I1675T probably benign Het
Nol9 T C 4: 152,125,514 (GRCm39) F155S probably damaging Het
Obscn C A 11: 58,960,721 (GRCm39) D3406Y probably damaging Het
Obsl1 A G 1: 75,466,273 (GRCm39) V1485A possibly damaging Het
Oga A T 19: 45,760,119 (GRCm39) probably null Het
Or8a1 T C 9: 37,641,725 (GRCm39) K185E possibly damaging Het
Otog C A 7: 45,950,639 (GRCm39) P337H probably damaging Het
Patl1 T C 19: 11,898,242 (GRCm39) L140P probably damaging Het
Pcca G A 14: 122,820,035 (GRCm39) V60M probably damaging Het
Pex11g G T 8: 3,514,092 (GRCm39) D23E probably damaging Het
Phactr2 A T 10: 13,137,626 (GRCm39) M172K probably damaging Het
Plce1 G A 19: 38,512,974 (GRCm39) W91* probably null Het
Plch1 C T 3: 63,688,811 (GRCm39) W131* probably null Het
Podn A G 4: 107,884,357 (GRCm39) F44S probably damaging Het
Polr3e A G 7: 120,527,205 (GRCm39) D87G possibly damaging Het
Prmt2 T A 10: 76,058,351 (GRCm39) I153F probably benign Het
Prpf6 T C 2: 181,273,229 (GRCm39) V258A probably benign Het
Qrich1 A T 9: 108,411,491 (GRCm39) N339Y probably damaging Het
Rabgap1 T A 2: 37,432,659 (GRCm39) V750D possibly damaging Het
Reg3d G A 6: 78,354,428 (GRCm39) P58S probably damaging Het
Rp1 A G 1: 4,112,212 (GRCm39) L1213P unknown Het
Sema6b A G 17: 56,431,047 (GRCm39) L872S probably benign Het
Serpinb7 T C 1: 107,379,436 (GRCm39) I281T probably damaging Het
Shank2 T C 7: 143,838,821 (GRCm39) V685A possibly damaging Het
Slc28a2 A G 2: 122,284,980 (GRCm39) I323V possibly damaging Het
Slc7a6 A T 8: 106,919,099 (GRCm39) I228F probably damaging Het
Slc9a9 A G 9: 94,821,512 (GRCm39) T300A possibly damaging Het
Spta1 A G 1: 174,068,653 (GRCm39) N2151S probably damaging Het
Sult2a1 T A 7: 13,569,945 (GRCm39) I96L probably benign Het
Tgm2 T C 2: 157,966,070 (GRCm39) D528G probably benign Het
Ubl7 T C 9: 57,818,456 (GRCm39) probably null Het
Vcan T A 13: 89,839,716 (GRCm39) I983L probably benign Het
Vmn1r172 T C 7: 23,359,742 (GRCm39) L209P probably damaging Het
Vmn1r181 G A 7: 23,684,183 (GRCm39) R216Q probably benign Het
Vmn1r3 T C 4: 3,184,993 (GRCm39) S105G probably benign Het
Zfp644 A T 5: 106,783,711 (GRCm39) H945Q 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
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'- GCAGCTGCACATTTGTCAGTTC -3'
(R):5'- CATGTCCTCCAACCCGAGTATC -3'

Sequencing Primer
(F):5'- ACATTTGTCAGTTCAGGCACAC -3'
(R):5'- ACTGGCAGTGATGTCATGAGACC -3'
Posted On 2018-04-02