Incidental Mutation 'R6830:Ptprc'
ID 534325
Institutional Source Beutler Lab
Gene Symbol Ptprc
Ensembl Gene ENSMUSG00000026395
Gene Name protein tyrosine phosphatase receptor type C
Synonyms Ly-5, T200, CD45, B220, Lyt-4
MMRRC Submission 044940-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6830 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 137990599-138103446 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 137999993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000182283] [ENSMUST00000182755] [ENSMUST00000183301]
AlphaFold P06800
Predicted Effect probably null
Transcript: ENSMUST00000182283
SMART Domains Protein: ENSMUSP00000138800
Gene: ENSMUSG00000026395

DomainStartEndE-ValueType
Pfam:PTP_N 7 32 4.2e-13 PFAM
low complexity region 33 66 N/A INTRINSIC
Pfam:CD45 72 131 2.3e-24 PFAM
FN3 235 319 2.28e0 SMART
FN3 335 413 3.48e-1 SMART
transmembrane domain 428 449 N/A INTRINSIC
PTPc 502 764 7.57e-127 SMART
PTPc 793 1079 1.39e-102 SMART
Predicted Effect probably null
Transcript: ENSMUST00000182755
SMART Domains Protein: ENSMUSP00000138275
Gene: ENSMUSG00000026395

DomainStartEndE-ValueType
Pfam:PTP_N 7 34 5.5e-13 PFAM
Pfam:CD45 48 107 2.3e-24 PFAM
FN3 211 295 2.28e0 SMART
FN3 311 389 3.48e-1 SMART
transmembrane domain 404 425 N/A INTRINSIC
PTPc 478 740 7.57e-127 SMART
PTPc 769 1055 1.39e-102 SMART
Predicted Effect probably null
Transcript: ENSMUST00000183301
SMART Domains Protein: ENSMUSP00000138350
Gene: ENSMUSG00000026395

DomainStartEndE-ValueType
Pfam:PTP_N 7 33 2.7e-13 PFAM
low complexity region 111 128 N/A INTRINSIC
low complexity region 170 205 N/A INTRINSIC
Pfam:CD45 211 270 2.1e-24 PFAM
FN3 374 458 2.28e0 SMART
FN3 474 552 3.48e-1 SMART
transmembrane domain 567 588 N/A INTRINSIC
PTPc 641 903 7.57e-127 SMART
PTPc 932 1218 1.39e-102 SMART
Meta Mutation Damage Score 0.9494 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 98% (53/54)
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, mitosis, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus is classified as a receptor type PTP. This PTP has been shown to be an essential regulator of T- and B-cell antigen receptor signaling. It functions through either direct interaction with components of the antigen receptor complexes, or by activating various Src family kinases required for the antigen receptor signaling. This PTP also suppresses JAK kinases, and thus functions as a regulator of cytokine receptor signaling. Alternatively spliced transcripts variants of this gene, which encode distinct isoforms, have been reported. [provided by RefSeq, Jun 2012]
PHENOTYPE: Homozygous null mutants have defective T cell, B cell, and NK cell morphology and physiology. Mice carrying an engineered point mutation exhibit lymphoproliferation and autoimmunity that leads to premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503B20Rik T C 3: 146,356,716 (GRCm39) D64G possibly damaging Het
Amtn T C 5: 88,525,956 (GRCm39) L40P probably damaging Het
Ano6 A G 15: 95,792,342 (GRCm39) R90G probably damaging Het
Arfgef3 A C 10: 18,540,637 (GRCm39) probably null Het
Asxl3 C T 18: 22,658,445 (GRCm39) P2152S probably benign Het
Atp7b A T 8: 22,512,381 (GRCm39) V494E probably damaging Het
Bik T A 15: 83,428,409 (GRCm39) Y146N probably benign Het
C1qtnf7 A T 5: 43,766,436 (GRCm39) I12F possibly damaging Het
Cacna1e A G 1: 154,289,720 (GRCm39) probably null Het
Ccdc168 A G 1: 44,095,890 (GRCm39) V1736A probably benign Het
Ccnj A G 19: 40,833,636 (GRCm39) E231G probably damaging Het
Cd101 T C 3: 100,901,012 (GRCm39) K1020R probably benign Het
Cdh6 C A 15: 13,044,860 (GRCm39) V421L probably benign Het
Cplane1 T C 15: 8,205,668 (GRCm39) S135P probably benign Het
Decr1 T C 4: 15,924,355 (GRCm39) probably null Het
Dmxl1 C T 18: 50,054,091 (GRCm39) P2566S probably damaging Het
Dock9 G A 14: 121,860,330 (GRCm39) P866L probably damaging Het
Epx A G 11: 87,759,452 (GRCm39) F546L probably damaging Het
Fat4 T A 3: 39,035,966 (GRCm39) M3206K probably benign Het
Fgb T C 3: 82,952,332 (GRCm39) D179G probably benign Het
Gbgt1 A G 2: 28,395,220 (GRCm39) D286G probably damaging Het
Gpn1 T A 5: 31,664,832 (GRCm39) S285R probably benign Het
Htt T A 5: 34,991,670 (GRCm39) Y1212N possibly damaging Het
Kcnj13 T C 1: 87,314,745 (GRCm39) K159R probably damaging Het
Ldb2 T A 5: 44,699,199 (GRCm39) I80F probably damaging Het
Macrod2 T A 2: 140,294,602 (GRCm39) N89K probably damaging Het
Mdga2 G A 12: 66,769,775 (GRCm39) R173C probably damaging Het
Mroh9 A G 1: 162,903,935 (GRCm39) F26L probably benign Het
Neil3 G T 8: 54,052,514 (GRCm39) N361K probably benign Het
Nepro A G 16: 44,551,720 (GRCm39) R193G probably damaging Het
Or52d3 T A 7: 104,229,447 (GRCm39) I198N probably damaging Het
Pclo A T 5: 14,731,113 (GRCm39) Q3205L unknown Het
Plekhm1 A T 11: 103,267,715 (GRCm39) I752N probably damaging Het
Podn T C 4: 107,878,614 (GRCm39) T273A possibly damaging Het
Prep T A 10: 44,973,597 (GRCm39) M235K probably benign Het
Reg2 A G 6: 78,384,625 (GRCm39) H119R possibly damaging Het
Rpe65 T C 3: 159,319,805 (GRCm39) V225A probably benign Het
Scn9a T C 2: 66,398,373 (GRCm39) D79G probably damaging Het
Slc25a23 G A 17: 57,360,804 (GRCm39) R9* probably null Het
Snai3 A G 8: 123,183,212 (GRCm39) L111P probably damaging Het
Stk38 A G 17: 29,218,981 (GRCm39) probably null Het
Stk38l A T 6: 146,668,269 (GRCm39) I115F possibly damaging Het
Tmco6 T A 18: 36,871,406 (GRCm39) probably null Het
Tollip A T 7: 141,452,451 (GRCm39) M1K probably null Het
Trim40 T C 17: 37,199,742 (GRCm39) Y112C possibly damaging Het
Ttc27 T A 17: 75,163,550 (GRCm39) Y719* probably null Het
Ubald1 T C 16: 4,697,584 (GRCm39) D6G probably damaging Het
Vmn2r59 A T 7: 41,693,171 (GRCm39) S476R probably benign Het
Wfdc3 C T 2: 164,576,178 (GRCm39) G38R possibly damaging Het
Zbtb21 C T 16: 97,753,161 (GRCm39) G402D probably damaging Het
Zfp84 A G 7: 29,475,911 (GRCm39) Y201C probably benign Het
Zswim2 T A 2: 83,770,028 (GRCm39) H62L probably damaging Het
Other mutations in Ptprc
AlleleSourceChrCoordTypePredicted EffectPPH Score
lochy APN 1 138,011,528 (GRCm39) splice site probably benign
IGL00486:Ptprc APN 1 138,043,359 (GRCm39) missense probably damaging 0.97
IGL00771:Ptprc APN 1 138,041,415 (GRCm39) missense probably benign 0.00
IGL00833:Ptprc APN 1 138,006,230 (GRCm39) missense possibly damaging 0.55
IGL00919:Ptprc APN 1 138,041,380 (GRCm39) missense probably damaging 1.00
IGL01020:Ptprc APN 1 138,047,911 (GRCm39) critical splice acceptor site probably null 0.00
IGL01024:Ptprc APN 1 138,008,650 (GRCm39) missense probably damaging 1.00
IGL01302:Ptprc APN 1 138,027,369 (GRCm39) missense possibly damaging 0.82
IGL01548:Ptprc APN 1 138,027,219 (GRCm39) critical splice donor site probably null 0.00
IGL01620:Ptprc APN 1 137,996,148 (GRCm39) missense possibly damaging 0.88
IGL01775:Ptprc APN 1 137,992,497 (GRCm39) missense probably damaging 1.00
IGL01820:Ptprc APN 1 137,993,936 (GRCm39) missense probably damaging 1.00
IGL02340:Ptprc APN 1 137,998,957 (GRCm39) missense probably damaging 1.00
IGL02943:Ptprc APN 1 138,027,251 (GRCm39) missense probably damaging 0.99
IGL03169:Ptprc APN 1 138,041,357 (GRCm39) missense probably benign 0.15
IGL03308:Ptprc APN 1 138,054,058 (GRCm39) missense possibly damaging 0.70
IGL03404:Ptprc APN 1 138,020,739 (GRCm39) missense probably damaging 1.00
belittle UTSW 1 138,137,493 (GRCm38) intron probably benign
Benighted UTSW 1 138,054,039 (GRCm39) critical splice donor site probably null
bletchley UTSW 1 138,045,600 (GRCm39) missense probably benign
Blush UTSW 1 138,045,458 (GRCm39) intron probably benign
bruise UTSW 1 137,992,509 (GRCm39) missense probably damaging 1.00
chor_muang UTSW 1 138,041,300 (GRCm39) critical splice donor site probably null
crystal UTSW 1 137,999,993 (GRCm39) critical splice donor site probably null
Dumpling UTSW 1 137,995,628 (GRCm39) missense probably damaging 1.00
fluorescent UTSW 1 138,028,930 (GRCm39) missense probably damaging 0.97
fuchsia UTSW 1 138,028,779 (GRCm39) critical splice donor site probably null
Gentian UTSW 1 137,995,623 (GRCm39) critical splice donor site probably null
guotie UTSW 1 137,996,139 (GRCm39) nonsense probably null
guotie2 UTSW 1 138,022,037 (GRCm39) missense probably damaging 0.97
Guotie3 UTSW 1 138,006,189 (GRCm39) missense possibly damaging 0.92
Gyoza UTSW 1 138,011,305 (GRCm39) missense probably damaging 1.00
Half_measure UTSW 1 137,998,987 (GRCm39) missense probably damaging 0.98
jirisan UTSW 1 138,041,416 (GRCm39) nonsense probably null
mauve UTSW 1 138,027,423 (GRCm39) missense probably benign
Perverse UTSW 1 138,028,782 (GRCm39) missense probably benign 0.02
petechiae UTSW 1 138,041,446 (GRCm39) nonsense probably null
ultra UTSW 1 138,006,183 (GRCm39) critical splice donor site probably null
violaceous UTSW 1 138,011,377 (GRCm39) missense possibly damaging 0.77
R0013:Ptprc UTSW 1 138,041,297 (GRCm39) splice site probably null
R0189:Ptprc UTSW 1 138,010,453 (GRCm39) missense probably benign 0.10
R0390:Ptprc UTSW 1 138,050,313 (GRCm39) missense possibly damaging 0.71
R0504:Ptprc UTSW 1 138,016,435 (GRCm39) missense probably damaging 1.00
R0602:Ptprc UTSW 1 138,017,223 (GRCm39) splice site probably benign
R0627:Ptprc UTSW 1 137,996,058 (GRCm39) missense probably damaging 0.99
R0632:Ptprc UTSW 1 138,001,348 (GRCm39) missense probably benign 0.01
R0751:Ptprc UTSW 1 138,020,668 (GRCm39) missense probably damaging 1.00
R0839:Ptprc UTSW 1 138,028,870 (GRCm39) missense possibly damaging 0.47
R0942:Ptprc UTSW 1 137,996,139 (GRCm39) nonsense probably null
R0943:Ptprc UTSW 1 138,038,902 (GRCm39) missense probably damaging 0.96
R1159:Ptprc UTSW 1 138,000,057 (GRCm39) missense probably damaging 1.00
R1442:Ptprc UTSW 1 138,000,050 (GRCm39) missense probably damaging 1.00
R1489:Ptprc UTSW 1 138,047,824 (GRCm39) missense possibly damaging 0.91
R1728:Ptprc UTSW 1 138,035,562 (GRCm39) missense probably benign 0.04
R1728:Ptprc UTSW 1 138,035,561 (GRCm39) missense probably benign 0.22
R1728:Ptprc UTSW 1 138,027,414 (GRCm39) missense probably benign 0.05
R1728:Ptprc UTSW 1 138,039,992 (GRCm39) missense possibly damaging 0.53
R1728:Ptprc UTSW 1 138,035,575 (GRCm39) missense probably benign 0.09
R1729:Ptprc UTSW 1 138,035,561 (GRCm39) missense probably benign 0.22
R1729:Ptprc UTSW 1 138,027,414 (GRCm39) missense probably benign 0.05
R1729:Ptprc UTSW 1 138,039,992 (GRCm39) missense possibly damaging 0.53
R1729:Ptprc UTSW 1 138,035,575 (GRCm39) missense probably benign 0.09
R1729:Ptprc UTSW 1 138,035,562 (GRCm39) missense probably benign 0.04
R1730:Ptprc UTSW 1 138,035,575 (GRCm39) missense probably benign 0.09
R1730:Ptprc UTSW 1 138,039,992 (GRCm39) missense possibly damaging 0.53
R1730:Ptprc UTSW 1 138,027,414 (GRCm39) missense probably benign 0.05
R1730:Ptprc UTSW 1 138,035,561 (GRCm39) missense probably benign 0.22
R1730:Ptprc UTSW 1 138,035,562 (GRCm39) missense probably benign 0.04
R1739:Ptprc UTSW 1 138,035,575 (GRCm39) missense probably benign 0.09
R1739:Ptprc UTSW 1 138,039,992 (GRCm39) missense possibly damaging 0.53
R1739:Ptprc UTSW 1 138,027,414 (GRCm39) missense probably benign 0.05
R1739:Ptprc UTSW 1 138,035,561 (GRCm39) missense probably benign 0.22
R1739:Ptprc UTSW 1 138,035,562 (GRCm39) missense probably benign 0.04
R1762:Ptprc UTSW 1 138,035,575 (GRCm39) missense probably benign 0.09
R1762:Ptprc UTSW 1 138,039,992 (GRCm39) missense possibly damaging 0.53
R1762:Ptprc UTSW 1 138,027,414 (GRCm39) missense probably benign 0.05
R1762:Ptprc UTSW 1 138,035,561 (GRCm39) missense probably benign 0.22
R1762:Ptprc UTSW 1 138,035,562 (GRCm39) missense probably benign 0.04
R1783:Ptprc UTSW 1 138,027,414 (GRCm39) missense probably benign 0.05
R1783:Ptprc UTSW 1 138,035,561 (GRCm39) missense probably benign 0.22
R1783:Ptprc UTSW 1 138,035,562 (GRCm39) missense probably benign 0.04
R1783:Ptprc UTSW 1 138,035,575 (GRCm39) missense probably benign 0.09
R1783:Ptprc UTSW 1 138,039,992 (GRCm39) missense possibly damaging 0.53
R1784:Ptprc UTSW 1 138,035,575 (GRCm39) missense probably benign 0.09
R1784:Ptprc UTSW 1 138,039,992 (GRCm39) missense possibly damaging 0.53
R1784:Ptprc UTSW 1 138,027,414 (GRCm39) missense probably benign 0.05
R1784:Ptprc UTSW 1 138,035,561 (GRCm39) missense probably benign 0.22
R1784:Ptprc UTSW 1 138,035,562 (GRCm39) missense probably benign 0.04
R1785:Ptprc UTSW 1 138,027,414 (GRCm39) missense probably benign 0.05
R1785:Ptprc UTSW 1 138,035,561 (GRCm39) missense probably benign 0.22
R1785:Ptprc UTSW 1 138,039,992 (GRCm39) missense possibly damaging 0.53
R1785:Ptprc UTSW 1 138,035,575 (GRCm39) missense probably benign 0.09
R1785:Ptprc UTSW 1 138,035,562 (GRCm39) missense probably benign 0.04
R1862:Ptprc UTSW 1 138,039,965 (GRCm39) missense probably benign 0.13
R2145:Ptprc UTSW 1 138,001,419 (GRCm39) missense probably damaging 1.00
R2290:Ptprc UTSW 1 138,038,926 (GRCm39) missense probably benign 0.00
R2403:Ptprc UTSW 1 138,016,270 (GRCm39) missense probably damaging 1.00
R2439:Ptprc UTSW 1 137,993,890 (GRCm39) missense possibly damaging 0.67
R2887:Ptprc UTSW 1 138,007,916 (GRCm39) missense probably damaging 1.00
R2906:Ptprc UTSW 1 137,992,272 (GRCm39) missense possibly damaging 0.93
R3774:Ptprc UTSW 1 137,992,511 (GRCm39) missense probably damaging 0.97
R3775:Ptprc UTSW 1 137,992,511 (GRCm39) missense probably damaging 0.97
R3776:Ptprc UTSW 1 137,992,511 (GRCm39) missense probably damaging 0.97
R3834:Ptprc UTSW 1 138,011,305 (GRCm39) missense probably damaging 1.00
R4019:Ptprc UTSW 1 138,006,254 (GRCm39) missense probably damaging 1.00
R4377:Ptprc UTSW 1 137,995,663 (GRCm39) missense probably benign 0.04
R4580:Ptprc UTSW 1 137,998,989 (GRCm39) missense probably benign 0.09
R4923:Ptprc UTSW 1 138,006,236 (GRCm39) missense possibly damaging 0.93
R4925:Ptprc UTSW 1 138,027,235 (GRCm39) missense probably benign 0.04
R4937:Ptprc UTSW 1 138,017,238 (GRCm39) missense probably damaging 1.00
R4970:Ptprc UTSW 1 138,022,037 (GRCm39) missense probably damaging 0.97
R5112:Ptprc UTSW 1 138,022,037 (GRCm39) missense probably damaging 0.97
R5145:Ptprc UTSW 1 138,017,304 (GRCm39) missense probably benign 0.07
R5158:Ptprc UTSW 1 138,102,822 (GRCm39) missense possibly damaging 0.75
R5223:Ptprc UTSW 1 138,045,600 (GRCm39) missense probably benign
R5593:Ptprc UTSW 1 138,045,458 (GRCm39) intron probably benign
R5689:Ptprc UTSW 1 138,045,515 (GRCm39) missense probably benign 0.01
R5885:Ptprc UTSW 1 138,016,246 (GRCm39) missense probably damaging 1.00
R6010:Ptprc UTSW 1 138,028,794 (GRCm39) missense probably benign 0.09
R6026:Ptprc UTSW 1 137,998,987 (GRCm39) missense probably damaging 0.98
R6047:Ptprc UTSW 1 138,028,779 (GRCm39) critical splice donor site probably null
R6173:Ptprc UTSW 1 137,995,628 (GRCm39) missense probably damaging 1.00
R6328:Ptprc UTSW 1 138,041,416 (GRCm39) nonsense probably null
R6383:Ptprc UTSW 1 138,006,189 (GRCm39) missense possibly damaging 0.92
R6436:Ptprc UTSW 1 138,011,377 (GRCm39) missense possibly damaging 0.77
R6492:Ptprc UTSW 1 138,041,300 (GRCm39) critical splice donor site probably null
R6520:Ptprc UTSW 1 138,007,881 (GRCm39) nonsense probably null
R6805:Ptprc UTSW 1 137,995,623 (GRCm39) critical splice donor site probably null
R6847:Ptprc UTSW 1 138,016,283 (GRCm39) missense probably damaging 0.99
R6960:Ptprc UTSW 1 138,006,183 (GRCm39) critical splice donor site probably null
R6995:Ptprc UTSW 1 138,016,482 (GRCm39) missense probably damaging 1.00
R7009:Ptprc UTSW 1 137,992,291 (GRCm39) missense probably damaging 0.97
R7041:Ptprc UTSW 1 138,054,047 (GRCm39) missense probably benign 0.04
R7055:Ptprc UTSW 1 138,017,309 (GRCm39) missense probably damaging 1.00
R7098:Ptprc UTSW 1 138,027,423 (GRCm39) missense probably benign
R7164:Ptprc UTSW 1 138,045,600 (GRCm39) missense probably benign
R7188:Ptprc UTSW 1 137,998,918 (GRCm39) missense probably damaging 1.00
R7191:Ptprc UTSW 1 138,028,782 (GRCm39) missense probably benign 0.02
R7204:Ptprc UTSW 1 138,045,600 (GRCm39) missense probably benign
R7316:Ptprc UTSW 1 137,992,509 (GRCm39) missense probably damaging 1.00
R7644:Ptprc UTSW 1 137,995,645 (GRCm39) missense probably benign 0.01
R7948:Ptprc UTSW 1 137,992,314 (GRCm39) missense probably benign 0.45
R8029:Ptprc UTSW 1 138,006,197 (GRCm39) missense probably damaging 1.00
R8677:Ptprc UTSW 1 138,011,335 (GRCm39) missense probably damaging 1.00
R8704:Ptprc UTSW 1 138,043,362 (GRCm39) missense probably benign 0.34
R8824:Ptprc UTSW 1 138,041,446 (GRCm39) nonsense probably null
R8921:Ptprc UTSW 1 138,054,039 (GRCm39) critical splice donor site probably null
R8998:Ptprc UTSW 1 138,028,930 (GRCm39) missense probably damaging 0.97
R8999:Ptprc UTSW 1 138,028,930 (GRCm39) missense probably damaging 0.97
R9154:Ptprc UTSW 1 138,016,302 (GRCm39) missense probably damaging 1.00
R9388:Ptprc UTSW 1 138,011,380 (GRCm39) missense possibly damaging 0.87
R9428:Ptprc UTSW 1 138,041,485 (GRCm39) missense probably benign 0.01
R9467:Ptprc UTSW 1 137,993,960 (GRCm39) missense probably damaging 1.00
R9468:Ptprc UTSW 1 138,044,754 (GRCm39) missense probably benign 0.01
R9479:Ptprc UTSW 1 138,001,388 (GRCm39) missense probably benign 0.38
R9526:Ptprc UTSW 1 137,996,111 (GRCm39) missense probably benign 0.02
R9632:Ptprc UTSW 1 138,008,627 (GRCm39) missense probably damaging 1.00
R9710:Ptprc UTSW 1 138,008,627 (GRCm39) missense probably damaging 1.00
R9714:Ptprc UTSW 1 138,008,687 (GRCm39) missense probably damaging 1.00
R9777:Ptprc UTSW 1 138,047,901 (GRCm39) missense
Z1177:Ptprc UTSW 1 137,995,645 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CAAGCAATAGCACTTCCTTGTTC -3'
(R):5'- AGCTCAGTCCTCAGTCCTTAG -3'

Sequencing Primer
(F):5'- GCACTTCCTTGTTCTGAATCAAATG -3'
(R):5'- TCCTTAGGACTTCTTTGGTAAGAC -3'
Posted On 2018-09-12