Incidental Mutation 'R4703:Ptpn21'
ID 356238
Institutional Source Beutler Lab
Gene Symbol Ptpn21
Ensembl Gene ENSMUSG00000021009
Gene Name protein tyrosine phosphatase, non-receptor type 21
Synonyms PTPRL10, PTPD1
MMRRC Submission 041951-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # R4703 (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 98645651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1096 (T1096A)
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 benign
Transcript: ENSMUST00000085116
AA Change: T1096A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000082197
Gene: ENSMUSG00000021009
AA Change: T1096A

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
AA Change: T1096A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000126975
Gene: ENSMUSG00000021009
AA Change: T1096A

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 0.0701 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 97% (98/101)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik T A 13: 59,837,342 (GRCm39) T248S possibly damaging Het
AA986860 T C 1: 130,671,092 (GRCm39) V438A probably benign Het
Adam25 G T 8: 41,207,163 (GRCm39) C143F probably damaging Het
Aox1 T A 1: 58,398,116 (GRCm39) F1286I possibly damaging Het
Apobec4 A G 1: 152,632,001 (GRCm39) T10A probably benign Het
Arhgap5 C T 12: 52,564,366 (GRCm39) P446S probably damaging Het
Arhgef40 A G 14: 52,239,767 (GRCm39) N1327S probably damaging Het
Armc12 A G 17: 28,751,336 (GRCm39) D110G probably benign Het
Ascc1 A G 10: 59,885,624 (GRCm39) Y225C probably damaging Het
Aspscr1 A T 11: 120,579,771 (GRCm39) K39N possibly damaging Het
B4galnt1 G T 10: 127,003,394 (GRCm39) V172F possibly damaging Het
B4galt1 A G 4: 40,823,569 (GRCm39) V174A probably benign Het
Bcl11a C A 11: 24,113,725 (GRCm39) A356E possibly damaging Het
Bri3bp C T 5: 125,528,830 (GRCm39) L110F probably damaging Het
Cacna1b T C 2: 24,544,475 (GRCm39) D1231G probably damaging Het
Ccdc33 T A 9: 57,940,953 (GRCm39) I430F possibly damaging Het
Cgn A G 3: 94,683,405 (GRCm39) probably benign Het
Crbn T A 6: 106,759,883 (GRCm39) I317F possibly damaging Het
Cyp2d22 A C 15: 82,260,118 (GRCm39) L22R probably damaging Het
Dnah7a C T 1: 53,486,476 (GRCm39) probably null Het
Dnajc12 A G 10: 63,222,429 (GRCm39) probably null Het
Dntt T A 19: 41,028,242 (GRCm39) D179E probably benign Het
Enam T A 5: 88,651,650 (GRCm39) L1053* probably null Het
Epn1 T A 7: 5,098,147 (GRCm39) D319E probably damaging Het
Evpl C G 11: 116,113,331 (GRCm39) R1453P probably damaging Het
Focad T A 4: 88,260,558 (GRCm39) probably null Het
Foxp2 A T 6: 15,411,247 (GRCm39) M542L probably benign Het
Gak T A 5: 108,717,743 (GRCm39) Q1299L probably damaging Het
Galnt5 G T 2: 57,888,919 (GRCm39) R173I possibly damaging Het
Gli1 G T 10: 127,166,724 (GRCm39) P843Q possibly damaging Het
Gm5422 G T 10: 31,125,608 (GRCm39) noncoding transcript Het
Gna14 T G 19: 16,576,344 (GRCm39) V117G possibly damaging Het
Gpr6 T C 10: 40,947,037 (GRCm39) T182A probably damaging Het
Ifi204 C A 1: 173,587,927 (GRCm39) probably benign Het
Ifih1 A T 2: 62,429,220 (GRCm39) L906H probably benign Het
Ift88 A G 14: 57,718,307 (GRCm39) probably benign Het
Ighd A G 12: 113,379,661 (GRCm39) probably benign Het
Ighv11-1 A C 12: 113,945,622 (GRCm39) I77R possibly damaging Het
Il22 A T 10: 118,041,511 (GRCm39) I75F probably damaging Het
Il23r A T 6: 67,467,686 (GRCm39) I27K probably damaging Het
Inpp5a A C 7: 139,138,839 (GRCm39) N261T probably damaging Het
Ints8 T G 4: 11,223,785 (GRCm39) Q686P possibly damaging Het
Iqcf4 T C 9: 106,445,519 (GRCm39) probably null Het
Irf2bp1 C T 7: 18,739,496 (GRCm39) R379C possibly damaging Het
Iws1 C T 18: 32,213,066 (GRCm39) P165S probably benign Het
Kalrn T C 16: 34,024,327 (GRCm39) D610G probably damaging Het
Kcna10 A T 3: 107,101,926 (GRCm39) I186F probably benign Het
Limk2 C A 11: 3,297,586 (GRCm39) E329* probably null Het
Nadk C A 4: 155,669,684 (GRCm39) P157T probably benign Het
Notch1 T G 2: 26,361,170 (GRCm39) K1107Q probably benign Het
Nsd1 T A 13: 55,361,876 (GRCm39) D281E probably damaging Het
Obi1 A G 14: 104,743,644 (GRCm39) L145P probably benign Het
Olfml2a T A 2: 38,841,250 (GRCm39) L262Q probably damaging Het
Or1ab2 T A 8: 72,864,044 (GRCm39) F211L probably damaging Het
Or4k44 T A 2: 111,368,113 (GRCm39) I174L probably benign Het
Or51d1 A T 7: 102,347,477 (GRCm39) T11S probably benign Het
Or6k6 A G 1: 173,944,964 (GRCm39) I206T possibly damaging Het
Or7c19 A G 8: 85,957,237 (GRCm39) T38A possibly damaging Het
Otogl A C 10: 107,657,785 (GRCm39) D1048E probably damaging Het
Oxnad1 T C 14: 31,817,427 (GRCm39) W96R probably damaging Het
Pcdh15 A T 10: 74,285,995 (GRCm39) D743V probably damaging Het
Pclo A G 5: 14,726,494 (GRCm39) probably benign Het
Pcnx1 C T 12: 81,941,938 (GRCm39) T112I probably benign Het
Pctp T C 11: 89,878,099 (GRCm39) E145G possibly damaging Het
Pip5k1b T C 19: 24,332,517 (GRCm39) K389R probably damaging Het
Pla2g15 T A 8: 106,889,691 (GRCm39) M321K probably benign Het
Pnlip T A 19: 58,664,899 (GRCm39) D242E probably damaging Het
Rims3 A T 4: 120,740,494 (GRCm39) probably benign Het
Scfd2 T A 5: 74,680,256 (GRCm39) Q299L probably benign Het
Selplg T C 5: 113,957,094 (GRCm39) D404G probably benign Het
Slc15a5 T C 6: 138,032,643 (GRCm39) D237G probably benign Het
Slc16a12 T A 19: 34,652,291 (GRCm39) H285L possibly damaging Het
Sox2 C A 3: 34,704,862 (GRCm39) R100S probably damaging Het
Sspo G A 6: 48,477,387 (GRCm39) C4969Y probably damaging Het
Stxbp2 A G 8: 3,682,521 (GRCm39) S37G probably damaging Het
Tbxas1 T C 6: 39,060,791 (GRCm39) probably null Het
Tcf4 A G 18: 69,790,981 (GRCm39) Y307C probably damaging Het
Thsd7b A T 1: 129,977,646 (GRCm39) probably benign Het
Tnn G T 1: 159,943,815 (GRCm39) D999E possibly damaging Het
Trmt13 C A 3: 116,388,247 (GRCm39) W63L probably benign Het
Tsc2 T C 17: 24,823,883 (GRCm39) N915S probably benign Het
Tyrp1 T A 4: 80,759,043 (GRCm39) probably null Het
Uvrag A T 7: 98,638,794 (GRCm39) I315N probably damaging Het
Vmn1r31 C A 6: 58,448,953 (GRCm39) *304L probably null Het
Vmn2r59 T A 7: 41,661,686 (GRCm39) I710L probably benign Het
Vmn2r82 A T 10: 79,214,641 (GRCm39) H208L probably damaging Het
Wtap T C 17: 13,199,711 (GRCm39) T91A probably benign Het
Xirp1 A T 9: 119,846,093 (GRCm39) V930E probably damaging Het
Xpo4 T G 14: 57,827,565 (GRCm39) H877P 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
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
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'- GTGTTCAGAAGCTATGGGCC -3'
(R):5'- ACACCAACTTGCCTTCAGTC -3'

Sequencing Primer
(F):5'- GGCCACCATGCCCTTCTC -3'
(R):5'- TGCCTTCAGTCACCATCGGG -3'
Posted On 2015-10-21