Incidental Mutation 'R8794:Ptprk'
ID 671123
Institutional Source Beutler Lab
Gene Symbol Ptprk
Ensembl Gene ENSMUSG00000019889
Gene Name protein tyrosine phosphatase receptor type K
Synonyms RPTPkappa, PTPk
MMRRC Submission 068723-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8794 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 27950816-28473393 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 28139504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 76 (Y76*)
Ref Sequence ENSEMBL: ENSMUSP00000151986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166468] [ENSMUST00000218276] [ENSMUST00000218359]
AlphaFold P35822
Predicted Effect probably null
Transcript: ENSMUST00000166468
AA Change: Y76*
SMART Domains Protein: ENSMUSP00000126279
Gene: ENSMUSG00000019889
AA Change: Y76*

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 null
Transcript: ENSMUST00000218276
AA Change: Y76*
Predicted Effect probably null
Transcript: ENSMUST00000218359
AA Change: Y76*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218584
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218633
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219478
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219761
Meta Mutation Damage Score 0.9754 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
Validation Efficiency 100% (86/86)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 9,226,939 (GRCm39) V498D unknown Het
Actn1 C T 12: 80,245,754 (GRCm39) probably benign Het
Actrt2 T C 4: 154,751,176 (GRCm39) E320G probably damaging Het
Adamts7 C T 9: 90,076,239 (GRCm39) Q1265* probably null Het
Adra1a A G 14: 66,875,064 (GRCm39) N13S probably benign Het
Alpk3 G T 7: 80,707,403 (GRCm39) R9L unknown Het
Ankrd42 A G 7: 92,263,674 (GRCm39) F225L probably benign Het
C3 T C 17: 57,528,011 (GRCm39) E736G probably benign Het
Ccng1 A G 11: 40,644,826 (GRCm39) S24P probably benign Het
Cdc42bpa A T 1: 179,894,816 (GRCm39) N332I probably damaging Het
Cep131 G A 11: 119,972,074 (GRCm39) P90S probably benign Het
Chd8 A G 14: 52,441,904 (GRCm39) S2154P probably damaging Het
Cilp A G 9: 65,186,535 (GRCm39) S877G probably benign Het
Clic6 T A 16: 92,324,987 (GRCm39) S382T possibly damaging Het
Coq8a G T 1: 180,006,773 (GRCm39) P85Q probably benign Het
Creb3l4 A G 3: 90,145,225 (GRCm39) I309T probably benign Het
Cux2 T C 5: 122,007,306 (GRCm39) E785G probably benign Het
Cyfip2 A G 11: 46,144,800 (GRCm39) F685L possibly damaging Het
Epha6 T C 16: 60,026,035 (GRCm39) D469G probably benign Het
Erc1 A T 6: 119,607,616 (GRCm39) V962E probably damaging Het
Esrrb A T 12: 86,517,038 (GRCm39) S57C probably damaging Het
Fam169a A G 13: 97,250,628 (GRCm39) T320A possibly damaging Het
Farsb C T 1: 78,401,678 (GRCm39) probably benign Het
Frem3 T C 8: 81,338,907 (GRCm39) V400A probably damaging Het
Frem3 A T 8: 81,342,851 (GRCm39) M1715L probably benign Het
Frmpd1 A G 4: 45,279,632 (GRCm39) T786A probably benign Het
Gapvd1 A T 2: 34,594,330 (GRCm39) S886T possibly damaging Het
Gba2 A G 4: 43,568,077 (GRCm39) S737P probably damaging Het
Gm525 A G 11: 88,979,479 (GRCm39) N85S probably damaging Het
Gnpda1 T A 18: 38,465,091 (GRCm39) D175V probably benign Het
Heatr5b T C 17: 79,123,015 (GRCm39) I655V probably benign Het
Hmcn1 G A 1: 150,591,469 (GRCm39) T1910I probably benign Het
Idh1 CA CAA 1: 65,204,347 (GRCm39) probably null Het
Ier2 A T 8: 85,389,096 (GRCm39) D95E probably damaging Het
Ifi208 A G 1: 173,523,370 (GRCm39) R547G possibly damaging Het
Itih3 T A 14: 30,634,854 (GRCm39) S639C possibly damaging Het
Kif19b A G 5: 140,461,785 (GRCm39) E529G probably damaging Het
Marchf7 G A 2: 60,074,015 (GRCm39) probably null Het
Mep1b A C 18: 21,224,325 (GRCm39) T373P probably damaging Het
Mlh3 G A 12: 85,282,497 (GRCm39) P1379S probably damaging Het
Nav3 T A 10: 109,605,032 (GRCm39) K1014* probably null Het
Nme1 A T 11: 93,851,658 (GRCm39) F78I probably benign Het
Nos3 T A 5: 24,576,745 (GRCm39) V458D probably damaging Het
Noxa1 A G 2: 24,984,852 (GRCm39) F29L probably benign Het
Nrcam G A 12: 44,624,958 (GRCm39) G1055D probably benign Het
Nutf2 A T 8: 106,602,171 (GRCm39) probably benign Het
Oog3 A G 4: 143,884,556 (GRCm39) I460T probably benign Het
Or4b1b A T 2: 90,112,150 (GRCm39) Y256* probably null Het
Or4c113 T C 2: 88,885,477 (GRCm39) M98V probably benign Het
Or5p78 A T 7: 108,211,580 (GRCm39) D22V probably benign Het
Or7e175 A T 9: 20,048,630 (GRCm39) M73L possibly damaging Het
Pde2a A T 7: 101,155,136 (GRCm39) Y559F possibly damaging Het
Pde6d G A 1: 86,475,209 (GRCm39) Q61* probably null Het
Pdpr A G 8: 111,852,240 (GRCm39) T536A possibly damaging Het
Pias4 T A 10: 80,999,846 (GRCm39) K69M probably damaging Het
Pigo A T 4: 43,023,787 (GRCm39) D188E possibly damaging Het
Pik3r2 A G 8: 71,224,007 (GRCm39) V270A probably benign Het
Plod2 T A 9: 92,482,801 (GRCm39) W456R probably damaging Het
Pmpcb T C 5: 21,961,832 (GRCm39) V450A probably benign Het
Poln G A 5: 34,286,871 (GRCm39) T99I possibly damaging Het
Prg2 A G 2: 84,812,404 (GRCm39) D38G possibly damaging Het
Psmd7 A C 8: 108,310,831 (GRCm39) Y138D probably damaging Het
Ranbp2 T A 10: 58,328,414 (GRCm39) V2810E probably damaging Het
Rgma A T 7: 73,067,648 (GRCm39) H411L probably damaging Het
Sapcd1 T C 17: 35,246,814 (GRCm39) T25A probably damaging Het
Serpinb6e T C 13: 34,024,977 (GRCm39) I105V possibly damaging Het
Serpinb9f A T 13: 33,513,396 (GRCm39) T158S probably benign Het
Sirpb1b T A 3: 15,613,843 (GRCm39) T80S probably benign Het
Skint6 A T 4: 113,049,869 (GRCm39) S265R possibly damaging Het
Slc23a2 A T 2: 131,902,629 (GRCm39) F524L probably benign Het
Slc2a13 C A 15: 91,234,302 (GRCm39) G345C probably damaging Het
Sp110 A G 1: 85,511,231 (GRCm39) probably null Het
Srcin1 A G 11: 97,439,803 (GRCm39) V109A probably benign Het
Tfcp2l1 A G 1: 118,560,118 (GRCm39) N70S probably damaging Het
Tmem30c T A 16: 57,090,553 (GRCm39) H218L probably benign Het
Tmprss11d G A 5: 86,486,680 (GRCm39) T70I probably damaging Het
Tnpo2 A T 8: 85,765,114 (GRCm39) Q32L probably benign Het
Trav16n A C 14: 53,588,867 (GRCm39) T48P probably damaging Het
Ufc1 A G 1: 171,117,095 (GRCm39) Y110H probably damaging Het
Wars2 A G 3: 99,123,888 (GRCm39) K250E probably damaging Het
Wdfy4 G T 14: 32,869,049 (GRCm39) N326K probably benign Het
Xirp2 A T 2: 67,341,557 (GRCm39) E1266V probably damaging Het
Zfp423 A C 8: 88,507,857 (GRCm39) L829R probably damaging Het
Zfp735 A G 11: 73,603,029 (GRCm39) K658E possibly damaging Het
Zscan12 T A 13: 21,547,847 (GRCm39) C10S possibly damaging Het
Zswim3 T A 2: 164,662,687 (GRCm39) M389K 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
R4828:Ptprk UTSW 10 28,436,050 (GRCm39) missense probably damaging 1.00
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
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'- AATGGATCTACGTGATGTCTTGAC -3'
(R):5'- ACCAGTGAATCCAGTTACATTCC -3'

Sequencing Primer
(F):5'- GACTGATATTTTTCTATGGCCCTG -3'
(R):5'- TCCAAATTGGATTAGCAAGAGGTCC -3'
Posted On 2021-04-30