Incidental Mutation 'R4829:Ptpn21'
ID 372693
Institutional Source Beutler Lab
Gene Symbol Ptpn21
Ensembl Gene ENSMUSG00000021009
Gene Name protein tyrosine phosphatase, non-receptor type 21
Synonyms PTPRL10, PTPD1
MMRRC Submission 042445-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # R4829 (G1)
Quality Score 174
Status Validated
Chromosome 12
Chromosomal Location 98643000-98703664 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 98655555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 471 (S471A)
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: S471A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000082197
Gene: ENSMUSG00000021009
AA Change: S471A

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: S471A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126975
Gene: ENSMUSG00000021009
AA Change: S471A

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: S471A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.0979 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
Validation Efficiency 98% (109/111)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,774,780 (GRCm39) V1323A probably damaging Het
Abcb1a T C 5: 8,773,214 (GRCm39) L814P probably damaging Het
Acat1 C A 9: 53,502,756 (GRCm39) G191V probably damaging Het
Acsbg3 A G 17: 57,190,500 (GRCm39) probably null Het
Adamts20 A T 15: 94,224,277 (GRCm39) D1184E probably benign Het
Adss1 T C 12: 112,601,147 (GRCm39) L283P probably damaging Het
Arid4a A G 12: 71,070,272 (GRCm39) probably null Het
Arid4b T A 13: 14,359,023 (GRCm39) D599E probably benign Het
AW146154 T C 7: 41,130,057 (GRCm39) K353R possibly damaging Het
Axdnd1 G T 1: 156,204,216 (GRCm39) R547S possibly damaging Het
Bcat1 A T 6: 144,961,201 (GRCm39) F134Y probably damaging Het
Camk2d C A 3: 126,573,646 (GRCm39) probably benign Het
Catsperg2 T G 7: 29,400,550 (GRCm39) K268T probably damaging Het
Ccar1 A C 10: 62,581,114 (GRCm39) F1103L unknown Het
Ccdc141 T A 2: 76,905,260 (GRCm39) E395D probably damaging Het
Cdc37l1 A G 19: 28,967,983 (GRCm39) T16A probably benign Het
Cdca2 T A 14: 67,931,202 (GRCm39) probably null Het
Cfap96 T C 8: 46,420,952 (GRCm39) I159V probably damaging Het
Cntn5 T G 9: 9,976,288 (GRCm39) K219Q probably damaging Het
Col23a1 C A 11: 51,448,413 (GRCm39) A202E unknown Het
Csmd1 G A 8: 16,177,310 (GRCm39) L1318F probably damaging Het
Csnk1g3 C T 18: 54,028,895 (GRCm39) A16V possibly damaging Het
Cspg4b A G 13: 113,504,696 (GRCm39) I1942V probably benign Het
Dab2 A G 15: 6,454,162 (GRCm39) D224G probably damaging Het
Ddr1 A T 17: 35,996,005 (GRCm39) C625S probably damaging Het
Dennd4a T C 9: 64,796,338 (GRCm39) V788A probably damaging Het
Dgcr2 T C 16: 17,660,617 (GRCm39) E402G possibly damaging Het
Dhcr7 T G 7: 143,391,654 (GRCm39) I81S probably damaging Het
Exd1 C T 2: 119,350,807 (GRCm39) A485T probably benign Het
Fat1 C T 8: 45,489,199 (GRCm39) T3467I probably damaging Het
Fblim1 T C 4: 141,312,020 (GRCm39) E235G probably damaging Het
Fbxo38 T A 18: 62,651,662 (GRCm39) M548L probably benign Het
Fstl5 T C 3: 76,229,489 (GRCm39) Y97H probably damaging Het
Glb1l A T 1: 75,176,994 (GRCm39) S481T probably damaging Het
Gp2 A T 7: 119,056,407 (GRCm39) V22E possibly damaging Het
Grin1 A G 2: 25,208,736 (GRCm39) S55P possibly damaging Het
Herc2 A G 7: 55,756,240 (GRCm39) D760G probably benign Het
Hpn A G 7: 30,798,300 (GRCm39) probably benign Het
Hsf2 T C 10: 57,372,266 (GRCm39) V73A probably damaging Het
Ighv1-42 T C 12: 114,900,788 (GRCm39) Y80C probably benign Het
Ighv1-64 T C 12: 115,471,346 (GRCm39) K57R probably benign Het
Klc1 T C 12: 111,762,037 (GRCm39) I569T probably damaging Het
Klra3 T G 6: 130,300,579 (GRCm39) K263N probably benign Het
Lrcol1 C A 5: 110,502,393 (GRCm39) H90N probably benign Het
Mamdc4 T C 2: 25,455,368 (GRCm39) E921G possibly damaging Het
Mark1 G A 1: 184,637,724 (GRCm39) R622W possibly damaging Het
Mdga1 A G 17: 30,065,343 (GRCm39) S696P possibly damaging Het
Mmp1b C T 9: 7,370,729 (GRCm39) probably null Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mtnr1a T C 8: 45,538,652 (GRCm39) probably benign Het
Myo5a T C 9: 75,043,689 (GRCm39) I226T probably damaging Het
Ncoa6 G T 2: 155,257,147 (GRCm39) P799T probably damaging Het
Npc1l1 C T 11: 6,164,010 (GRCm39) probably null Het
Nxph3 T C 11: 95,402,321 (GRCm39) E31G probably benign Het
Obscn T C 11: 58,945,072 (GRCm39) I4649V probably null Het
Or10d4b A T 9: 39,534,734 (GRCm39) H103L probably damaging Het
Or8b12b G T 9: 37,684,243 (GRCm39) C96F probably damaging Het
Or8g35 A T 9: 39,381,663 (GRCm39) Y120N probably damaging Het
Or8h10 G A 2: 86,808,918 (GRCm39) S74L probably damaging Het
P3h3 G A 6: 124,818,601 (GRCm39) probably benign Het
Pcnx2 A T 8: 126,587,797 (GRCm39) probably null Het
Pirb C T 7: 3,720,602 (GRCm39) G299S probably benign Het
Pla2g4d A G 2: 120,097,224 (GRCm39) S792P probably damaging Het
Plppr4 A T 3: 117,129,240 (GRCm39) L76M possibly damaging Het
Ppp2r3d A T 9: 101,089,709 (GRCm39) S205T possibly damaging Het
Prkdc G A 16: 15,519,939 (GRCm39) D1126N possibly damaging Het
Prrt4 G A 6: 29,177,181 (GRCm39) S196L probably benign Het
Ptprk C A 10: 28,456,480 (GRCm39) S9* probably null Het
Rassf4 A T 6: 116,622,103 (GRCm39) I163K possibly damaging Het
Rgs22 C A 15: 36,104,034 (GRCm39) R142S probably damaging Het
Rit2 C A 18: 31,345,726 (GRCm39) L73F probably damaging Het
Rrbp1 A C 2: 143,831,607 (GRCm39) S187A probably benign Het
Rspo2 A T 15: 42,956,583 (GRCm39) Y83* probably null Het
Scn5a C T 9: 119,363,773 (GRCm39) V456M probably benign Het
Scn9a T A 2: 66,382,057 (GRCm39) H290L probably benign Het
Smarca4 T C 9: 21,550,623 (GRCm39) I452T probably damaging Het
Smc2 T A 4: 52,449,612 (GRCm39) I198K probably damaging Het
Smim14 G A 5: 65,617,946 (GRCm39) probably benign Het
Spg11 A C 2: 121,938,936 (GRCm39) N339K probably benign Het
Spta1 A G 1: 174,065,493 (GRCm39) E2014G probably benign Het
Stk4 T C 2: 163,941,747 (GRCm39) probably null Het
Sypl1 C T 12: 33,017,645 (GRCm39) T121M probably damaging Het
Tas2r120 T A 6: 132,634,331 (GRCm39) F138I probably benign Het
Tcstv4 G A 13: 120,769,926 (GRCm39) C82Y possibly damaging Het
Tet2 A C 3: 133,182,381 (GRCm39) C1194W possibly damaging Het
Tex29 T C 8: 11,905,668 (GRCm39) probably benign Het
Tnfrsf22 T A 7: 143,197,067 (GRCm39) T91S possibly damaging Het
Tnik A T 3: 28,593,690 (GRCm39) probably benign Het
Tnr A T 1: 159,685,974 (GRCm39) I402F probably benign Het
Unc93b1 A T 19: 3,994,293 (GRCm39) S475C probably damaging Het
Utrn T A 10: 12,539,205 (GRCm39) E1937D probably benign Het
Vmn1r227 A T 17: 20,955,927 (GRCm39) noncoding transcript Het
Vmn2r101 G A 17: 19,832,229 (GRCm39) V742I probably benign Het
Vmn2r81 T C 10: 79,083,635 (GRCm39) L3P possibly damaging Het
Zfp882 T G 8: 72,668,233 (GRCm39) H353Q 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
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'- TCAGTTCAGGCACACTCACG -3'
(R):5'- TACAGTGCACACAGTACGAATTCC -3'

Sequencing Primer
(F):5'- ACCACTGGCCGCCTCTC -3'
(R):5'- GTGCACACAGTACGAATTCCTTAAAC -3'
Posted On 2016-03-01