Incidental Mutation 'R4828:Ptprk'
ID 372593
Institutional Source Beutler Lab
Gene Symbol Ptprk
Ensembl Gene ENSMUSG00000019889
Gene Name protein tyrosine phosphatase receptor type K
Synonyms RPTPkappa, PTPk
MMRRC Submission 042444-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4828 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 27950816-28473393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 28436050 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 804 (M804L)
Ref Sequence ENSEMBL: ENSMUSP00000151866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166468] [ENSMUST00000218276] [ENSMUST00000218359]
AlphaFold P35822
Predicted Effect probably benign
Transcript: ENSMUST00000166468
AA Change: M794L

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000126279
Gene: ENSMUSG00000019889
AA Change: M794L

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
MAM 30 193 1.61e-73 SMART
IG 200 288 2.16e-8 SMART
FN3 290 373 1.48e-4 SMART
FN3 389 475 4.24e1 SMART
FN3 491 579 3.32e-7 SMART
transmembrane domain 753 774 N/A INTRINSIC
PTPc 898 1161 3.56e-132 SMART
PTPc 1190 1455 2.68e-86 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000218276
AA Change: M804L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000218359
AA Change: M794L

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219478
Predicted Effect probably benign
Transcript: ENSMUST00000219621
Meta Mutation Damage Score 0.1322 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 98% (106/108)
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 possesses an extracellular region, a single transmembrane region, and two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP was shown to mediate homophilic intercellular interaction, possibly through the interaction with beta- and gamma-catenin at adherens junctions. Expression of this gene was found to be stimulated by TGF-beta 1, which may be important for the inhibition of keratinocyte proliferation. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 119,815,470 (GRCm39) R239S probably damaging Het
Adat3 T C 10: 80,442,881 (GRCm39) S240P probably benign Het
Agbl5 G A 5: 31,048,059 (GRCm39) R111H probably damaging Het
Alg2 A G 4: 47,471,563 (GRCm39) V415A probably benign Het
Alpk2 T C 18: 65,482,184 (GRCm39) E141G probably benign Het
Ampd1 A C 3: 102,988,413 (GRCm39) T115P probably damaging Het
Ankrd12 A G 17: 66,291,632 (GRCm39) L1267P probably damaging Het
Arfgef3 A T 10: 18,528,441 (GRCm39) S315R probably damaging Het
Atp10d A C 5: 72,396,461 (GRCm39) D222A probably benign Het
B9d1 A G 11: 61,398,461 (GRCm39) E47G probably damaging Het
Bag2 T C 1: 33,785,968 (GRCm39) D118G probably damaging Het
Bnip3l G T 14: 67,246,208 (GRCm39) P9Q probably damaging Het
Casp8ap2 A G 4: 32,639,807 (GRCm39) N287S probably benign Het
Ccdc190 A G 1: 169,761,465 (GRCm39) D189G probably damaging Het
Ccdc88a A G 11: 29,413,210 (GRCm39) K583E probably damaging Het
Cd84 A T 1: 171,700,315 (GRCm39) N144I probably damaging Het
Chrnd A G 1: 87,119,293 (GRCm39) probably benign Het
Clca3b G T 3: 144,550,273 (GRCm39) T224K probably benign Het
Crcp A G 5: 130,088,603 (GRCm39) T119A probably damaging Het
Cul2 T C 18: 3,431,013 (GRCm39) Y596H probably damaging Het
Dip2c T A 13: 9,610,715 (GRCm39) W356R probably damaging Het
Dlc1 T A 8: 37,317,400 (GRCm39) Q425L possibly damaging Het
Dnah7b T A 1: 46,167,272 (GRCm39) V588D possibly damaging Het
Dock4 G T 12: 40,718,436 (GRCm39) G245W probably damaging Het
Dpf3 A G 12: 83,341,273 (GRCm39) I160T possibly damaging Het
Dstyk A G 1: 132,361,875 (GRCm39) T102A probably benign Het
Eif3d A T 15: 77,844,229 (GRCm39) L425* probably null Het
Elac2 A G 11: 64,886,153 (GRCm39) E477G probably damaging Het
Ephb3 G A 16: 21,033,745 (GRCm39) R23H possibly damaging Het
Exd1 C T 2: 119,350,807 (GRCm39) A485T probably benign Het
Ext2 G A 2: 93,626,112 (GRCm39) T316I probably benign Het
Fbf1 A G 11: 116,039,777 (GRCm39) V694A probably benign Het
Fgg G A 3: 82,915,677 (GRCm39) probably benign Het
Flnb G A 14: 7,919,238 (GRCm38) V1664I probably benign Het
Flnc G A 6: 29,455,166 (GRCm39) D1932N probably damaging Het
Gm1818 A T 12: 48,602,409 (GRCm39) noncoding transcript Het
Gnai1 G A 5: 18,496,470 (GRCm39) S151L probably damaging Het
Golph3l G A 3: 95,499,059 (GRCm39) R67H possibly damaging Het
Grk5 T A 19: 60,976,213 (GRCm39) C42* probably null Het
Herc1 G A 9: 66,404,625 (GRCm39) probably null Het
Hey2 A T 10: 30,710,179 (GRCm39) H191Q possibly damaging Het
Il11 A G 7: 4,779,481 (GRCm39) V8A probably benign Het
Il23r G A 6: 67,408,635 (GRCm39) P402L probably benign Het
Irf5 A G 6: 29,531,140 (GRCm39) N2S probably damaging Het
Lamb1 T C 12: 31,348,929 (GRCm39) Y606H probably benign Het
Larp4b C T 13: 9,220,934 (GRCm39) R650C probably damaging Het
Lrpap1 T C 5: 35,259,765 (GRCm39) E111G possibly damaging Het
Lrrc36 T A 8: 106,181,862 (GRCm39) S388T probably benign Het
Med27 T C 2: 29,267,950 (GRCm39) probably benign Het
Mrc1 T G 2: 14,275,017 (GRCm39) D439E probably damaging Het
Notch4 A T 17: 34,789,034 (GRCm39) E444D probably damaging Het
Nrm G A 17: 36,175,082 (GRCm39) V137I possibly damaging Het
Nxpe5 T A 5: 138,228,795 (GRCm39) L4Q possibly damaging Het
Obscn A G 11: 58,977,496 (GRCm39) V2052A possibly damaging Het
Oc90 A T 15: 65,753,408 (GRCm39) Y304N probably damaging Het
Or13f5 T C 4: 52,826,138 (GRCm39) V247A probably damaging Het
Or52d3 T A 7: 104,229,180 (GRCm39) F109Y possibly damaging Het
Or5p1 T C 7: 107,916,677 (GRCm39) V192A probably benign Het
Or8b101 T C 9: 38,020,036 (GRCm39) I13T probably damaging Het
Or8k1 T A 2: 86,047,877 (GRCm39) H59L possibly damaging Het
Parp10 A T 15: 76,127,281 (GRCm39) I52N probably benign Het
Pdgfrb C A 18: 61,206,315 (GRCm39) R608S probably damaging Het
Pecam1 A G 11: 106,590,634 (GRCm39) C47R probably damaging Het
Pirb C T 7: 3,720,602 (GRCm39) G299S probably benign Het
Pkhd1l1 A G 15: 44,392,801 (GRCm39) E1712G possibly damaging Het
Plce1 T C 19: 38,757,943 (GRCm39) I1958T probably damaging Het
Plch2 C T 4: 155,069,092 (GRCm39) R1073Q probably benign Het
Pld5 A C 1: 176,102,433 (GRCm39) I3S probably benign Het
Polr1a T C 6: 71,943,385 (GRCm39) W1207R possibly damaging Het
Polr2m T G 9: 71,391,050 (GRCm39) I51L possibly damaging Het
Ppl G A 16: 4,922,790 (GRCm39) R234C probably damaging Het
Ppp1r42 C T 1: 10,069,636 (GRCm39) R142H probably benign Het
Prokr1 A G 6: 87,558,224 (GRCm39) V387A probably benign Het
Prss23 A T 7: 89,159,108 (GRCm39) Y320* probably null Het
Rdh16f2 A G 10: 127,710,823 (GRCm39) S147G probably benign Het
Rgs7bp T C 13: 105,189,532 (GRCm39) H89R possibly damaging Het
Rilpl2 G T 5: 124,607,875 (GRCm39) T115K possibly damaging Het
Rnf212 G A 5: 108,877,334 (GRCm39) S153F probably damaging Het
Rnf213 A G 11: 119,307,455 (GRCm39) D705G possibly damaging Het
Selenbp2 A G 3: 94,611,426 (GRCm39) N379S probably benign Het
Sema3e G A 5: 14,276,654 (GRCm39) V312M probably damaging Het
Sh2d5 T A 4: 137,985,566 (GRCm39) L338Q probably damaging Het
Shank3 A G 15: 89,384,402 (GRCm39) probably benign Het
Skor2 G T 18: 76,948,113 (GRCm39) G612C probably damaging Het
Slc22a16 A G 10: 40,449,636 (GRCm39) Y24C probably damaging Het
Slc4a1ap T A 5: 31,688,053 (GRCm39) Y312* probably null Het
Slc5a7 A T 17: 54,583,827 (GRCm39) F488I probably benign Het
Snrnp200 A G 2: 127,053,527 (GRCm39) D130G probably damaging Het
Sorbs2 T A 8: 46,194,652 (GRCm39) probably benign Het
Tmem91 T G 7: 25,368,803 (GRCm39) T161P probably damaging Het
Tpd52l1 G A 10: 31,222,697 (GRCm39) T99M probably damaging Het
Trps1 A G 15: 50,524,073 (GRCm39) *1036Q probably null Het
Tshr A T 12: 91,504,564 (GRCm39) T501S probably damaging Het
Tubgcp3 T C 8: 12,721,987 (GRCm39) N15S probably benign Het
Unc5b A G 10: 60,608,127 (GRCm39) S669P possibly damaging Het
Zfp970 A G 2: 177,167,146 (GRCm39) E240G probably damaging Het
Other mutations in Ptprk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00310:Ptprk APN 10 28,212,506 (GRCm39) missense possibly damaging 0.92
IGL00533:Ptprk APN 10 28,461,971 (GRCm39) missense probably damaging 0.97
IGL01062:Ptprk APN 10 28,456,414 (GRCm39) missense probably damaging 1.00
IGL01295:Ptprk APN 10 28,351,174 (GRCm39) missense probably benign 0.14
IGL01372:Ptprk APN 10 28,445,923 (GRCm39) missense probably benign 0.00
IGL01452:Ptprk APN 10 28,450,913 (GRCm39) critical splice donor site probably null
IGL01829:Ptprk APN 10 28,449,383 (GRCm39) missense probably damaging 1.00
IGL01861:Ptprk APN 10 28,259,441 (GRCm39) missense possibly damaging 0.80
IGL01955:Ptprk APN 10 28,471,861 (GRCm39) unclassified probably benign
IGL02263:Ptprk APN 10 27,951,110 (GRCm39) missense unknown
IGL02489:Ptprk APN 10 28,259,468 (GRCm39) missense probably damaging 1.00
IGL02697:Ptprk APN 10 28,451,614 (GRCm39) missense possibly damaging 0.85
IGL02713:Ptprk APN 10 28,468,807 (GRCm39) missense possibly damaging 0.92
IGL02943:Ptprk APN 10 28,351,172 (GRCm39) missense possibly damaging 0.81
IGL03240:Ptprk APN 10 28,368,957 (GRCm39) missense probably damaging 0.99
IGL03373:Ptprk APN 10 28,442,533 (GRCm39) missense probably damaging 1.00
LCD18:Ptprk UTSW 10 28,450,983 (GRCm39) intron probably benign
PIT4366001:Ptprk UTSW 10 28,462,015 (GRCm39) missense probably benign
R0010:Ptprk UTSW 10 28,461,965 (GRCm39) missense probably damaging 1.00
R0021:Ptprk UTSW 10 28,468,891 (GRCm39) missense probably damaging 1.00
R0021:Ptprk UTSW 10 28,468,891 (GRCm39) missense probably damaging 1.00
R0035:Ptprk UTSW 10 28,139,504 (GRCm39) nonsense probably null
R0035:Ptprk UTSW 10 28,139,504 (GRCm39) nonsense probably null
R0053:Ptprk UTSW 10 28,351,105 (GRCm39) missense probably damaging 0.99
R0063:Ptprk UTSW 10 28,139,763 (GRCm39) missense probably damaging 1.00
R0063:Ptprk UTSW 10 28,139,763 (GRCm39) missense probably damaging 1.00
R0244:Ptprk UTSW 10 28,082,221 (GRCm39) missense possibly damaging 0.79
R0281:Ptprk UTSW 10 28,449,388 (GRCm39) missense probably damaging 1.00
R0387:Ptprk UTSW 10 28,230,625 (GRCm39) missense possibly damaging 0.66
R0480:Ptprk UTSW 10 28,461,944 (GRCm39) missense probably damaging 1.00
R0480:Ptprk UTSW 10 28,461,943 (GRCm39) missense probably damaging 1.00
R0585:Ptprk UTSW 10 28,451,664 (GRCm39) missense probably damaging 1.00
R0614:Ptprk UTSW 10 27,951,132 (GRCm39) missense probably damaging 0.96
R0684:Ptprk UTSW 10 28,359,294 (GRCm39) splice site probably benign
R1073:Ptprk UTSW 10 28,372,943 (GRCm39) critical splice donor site probably null
R1377:Ptprk UTSW 10 28,462,022 (GRCm39) missense probably benign 0.42
R1422:Ptprk UTSW 10 28,351,276 (GRCm39) missense possibly damaging 0.64
R1482:Ptprk UTSW 10 28,139,512 (GRCm39) missense probably benign 0.24
R1532:Ptprk UTSW 10 28,461,626 (GRCm39) missense probably damaging 1.00
R1576:Ptprk UTSW 10 28,427,647 (GRCm39) missense probably damaging 1.00
R1618:Ptprk UTSW 10 28,369,166 (GRCm39) missense probably benign 0.00
R1654:Ptprk UTSW 10 28,259,643 (GRCm39) missense probably damaging 1.00
R1701:Ptprk UTSW 10 28,342,054 (GRCm39) missense probably damaging 1.00
R1747:Ptprk UTSW 10 28,230,688 (GRCm39) missense possibly damaging 0.78
R2033:Ptprk UTSW 10 28,468,763 (GRCm39) unclassified probably benign
R2059:Ptprk UTSW 10 28,442,599 (GRCm39) missense probably damaging 1.00
R2076:Ptprk UTSW 10 28,465,364 (GRCm39) missense probably damaging 0.98
R2164:Ptprk UTSW 10 28,436,138 (GRCm39) missense probably damaging 1.00
R2260:Ptprk UTSW 10 28,082,145 (GRCm39) missense possibly damaging 0.65
R2394:Ptprk UTSW 10 28,427,713 (GRCm39) missense probably damaging 0.98
R2432:Ptprk UTSW 10 28,468,840 (GRCm39) missense probably damaging 1.00
R2437:Ptprk UTSW 10 28,230,709 (GRCm39) missense probably damaging 1.00
R2495:Ptprk UTSW 10 28,351,074 (GRCm39) splice site probably benign
R3037:Ptprk UTSW 10 28,456,474 (GRCm39) missense probably damaging 1.00
R3162:Ptprk UTSW 10 28,468,822 (GRCm39) missense probably benign
R3162:Ptprk UTSW 10 28,468,822 (GRCm39) missense probably benign
R3687:Ptprk UTSW 10 28,349,039 (GRCm39) missense probably damaging 1.00
R3722:Ptprk UTSW 10 28,259,619 (GRCm39) missense probably damaging 1.00
R3892:Ptprk UTSW 10 28,139,617 (GRCm39) missense probably benign 0.02
R3963:Ptprk UTSW 10 28,427,661 (GRCm39) missense probably damaging 0.99
R4077:Ptprk UTSW 10 28,139,508 (GRCm39) missense probably benign
R4079:Ptprk UTSW 10 28,139,508 (GRCm39) missense probably benign
R4112:Ptprk UTSW 10 28,351,284 (GRCm39) critical splice donor site probably null
R4255:Ptprk UTSW 10 28,082,241 (GRCm39) missense probably benign 0.14
R4523:Ptprk UTSW 10 28,342,048 (GRCm39) missense probably damaging 0.99
R4651:Ptprk UTSW 10 28,139,686 (GRCm39) missense probably damaging 0.99
R4652:Ptprk UTSW 10 28,139,686 (GRCm39) missense probably damaging 0.99
R4829:Ptprk UTSW 10 28,456,480 (GRCm39) nonsense probably null
R4883:Ptprk UTSW 10 28,464,928 (GRCm39) missense probably damaging 1.00
R5004:Ptprk UTSW 10 28,462,059 (GRCm39) missense possibly damaging 0.95
R5013:Ptprk UTSW 10 28,427,713 (GRCm39) missense probably damaging 0.99
R5092:Ptprk UTSW 10 28,468,769 (GRCm39) missense probably damaging 1.00
R5126:Ptprk UTSW 10 28,451,640 (GRCm39) splice site probably null
R5183:Ptprk UTSW 10 28,351,232 (GRCm39) missense probably benign 0.02
R5264:Ptprk UTSW 10 28,461,582 (GRCm39) missense probably damaging 1.00
R5304:Ptprk UTSW 10 28,468,050 (GRCm39) splice site probably null
R5330:Ptprk UTSW 10 28,463,076 (GRCm39) missense probably damaging 1.00
R5474:Ptprk UTSW 10 28,372,926 (GRCm39) nonsense probably null
R5516:Ptprk UTSW 10 28,372,926 (GRCm39) nonsense probably null
R5796:Ptprk UTSW 10 28,259,571 (GRCm39) missense probably damaging 1.00
R5843:Ptprk UTSW 10 28,369,060 (GRCm39) missense probably damaging 0.99
R5952:Ptprk UTSW 10 28,461,671 (GRCm39) missense probably damaging 0.99
R6065:Ptprk UTSW 10 28,351,166 (GRCm39) missense probably damaging 1.00
R6226:Ptprk UTSW 10 28,440,099 (GRCm39) missense probably benign 0.02
R6264:Ptprk UTSW 10 28,442,669 (GRCm39) missense probably damaging 1.00
R6638:Ptprk UTSW 10 28,471,807 (GRCm39) missense probably damaging 1.00
R6843:Ptprk UTSW 10 28,467,978 (GRCm39) missense possibly damaging 0.86
R6860:Ptprk UTSW 10 28,210,480 (GRCm39) missense probably damaging 1.00
R6869:Ptprk UTSW 10 28,349,055 (GRCm39) critical splice donor site probably null
R7214:Ptprk UTSW 10 28,450,905 (GRCm39) missense probably benign 0.11
R7307:Ptprk UTSW 10 28,465,004 (GRCm39) nonsense probably null
R7349:Ptprk UTSW 10 28,468,834 (GRCm39) missense possibly damaging 0.85
R7442:Ptprk UTSW 10 28,450,815 (GRCm39) missense probably damaging 1.00
R7585:Ptprk UTSW 10 28,436,084 (GRCm39) missense probably damaging 1.00
R7661:Ptprk UTSW 10 28,342,036 (GRCm39) missense probably benign 0.00
R7694:Ptprk UTSW 10 28,465,366 (GRCm39) missense possibly damaging 0.63
R7740:Ptprk UTSW 10 28,372,920 (GRCm39) missense probably damaging 1.00
R7810:Ptprk UTSW 10 28,468,853 (GRCm39) missense probably damaging 0.97
R7831:Ptprk UTSW 10 28,444,404 (GRCm39) missense possibly damaging 0.89
R7836:Ptprk UTSW 10 28,449,385 (GRCm39) missense probably damaging 1.00
R8049:Ptprk UTSW 10 28,259,565 (GRCm39) missense possibly damaging 0.84
R8235:Ptprk UTSW 10 28,465,037 (GRCm39) missense possibly damaging 0.70
R8274:Ptprk UTSW 10 28,456,408 (GRCm39) missense probably damaging 1.00
R8286:Ptprk UTSW 10 28,444,323 (GRCm39) missense probably damaging 1.00
R8372:Ptprk UTSW 10 28,230,688 (GRCm39) missense possibly damaging 0.78
R8727:Ptprk UTSW 10 28,442,541 (GRCm39) unclassified probably benign
R8794:Ptprk UTSW 10 28,139,504 (GRCm39) nonsense probably null
R8842:Ptprk UTSW 10 28,442,497 (GRCm39) missense probably damaging 0.97
R8861:Ptprk UTSW 10 28,446,186 (GRCm39) missense probably damaging 1.00
R8897:Ptprk UTSW 10 28,467,953 (GRCm39) missense probably damaging 1.00
R8910:Ptprk UTSW 10 28,368,993 (GRCm39) missense possibly damaging 0.68
R8919:Ptprk UTSW 10 28,359,203 (GRCm39) nonsense probably null
R8976:Ptprk UTSW 10 28,461,669 (GRCm39) missense probably damaging 1.00
R8982:Ptprk UTSW 10 28,436,138 (GRCm39) missense probably damaging 1.00
R9036:Ptprk UTSW 10 28,461,928 (GRCm39) missense probably benign 0.01
R9135:Ptprk UTSW 10 28,456,413 (GRCm39) missense probably damaging 1.00
R9308:Ptprk UTSW 10 28,450,850 (GRCm39) missense probably benign 0.15
R9317:Ptprk UTSW 10 28,230,731 (GRCm39) missense probably damaging 0.96
R9475:Ptprk UTSW 10 28,210,476 (GRCm39) missense possibly damaging 0.60
R9585:Ptprk UTSW 10 28,369,147 (GRCm39) nonsense probably null
R9625:Ptprk UTSW 10 28,462,006 (GRCm39) missense probably damaging 0.99
R9700:Ptprk UTSW 10 28,456,495 (GRCm39) missense probably damaging 1.00
R9745:Ptprk UTSW 10 28,139,608 (GRCm39) missense possibly damaging 0.46
Z1177:Ptprk UTSW 10 28,369,116 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCGTGTTATCGTAACTCCTG -3'
(R):5'- ATAACGTCAGTTGTGTTTTACTCTC -3'

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