Incidental Mutation 'R8286:Ptprk'
ID 638467
Institutional Source Beutler Lab
Gene Symbol Ptprk
Ensembl Gene ENSMUSG00000019889
Gene Name protein tyrosine phosphatase receptor type K
Synonyms RPTPkappa, PTPk
MMRRC Submission 067708-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8286 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 27950816-28473393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 28444323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 905 (S905C)
Ref Sequence ENSEMBL: ENSMUSP00000126279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166468]
AlphaFold P35822
Predicted Effect probably damaging
Transcript: ENSMUST00000166468
AA Change: S905C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126279
Gene: ENSMUSG00000019889
AA Change: S905C

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (42/42)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A T 5: 8,914,119 (GRCm39) Y1163F probably damaging Het
Abcd4 A G 12: 84,649,920 (GRCm39) V589A probably benign Het
Adam26b T A 8: 43,972,998 (GRCm39) N668I probably benign Het
Atp2b2 T C 6: 113,819,275 (GRCm39) N6S possibly damaging Het
Cacna2d2 A G 9: 107,392,063 (GRCm39) Y468C probably damaging Het
Cngb1 A T 8: 96,002,252 (GRCm39) V52D Het
Cped1 A T 6: 22,254,601 (GRCm39) Y998F probably benign Het
Csmd1 A G 8: 16,039,188 (GRCm39) V2390A probably benign Het
Ctsj A T 13: 61,148,330 (GRCm39) C321* probably null Het
Dip2a A C 10: 76,122,297 (GRCm39) I139S probably benign Het
Dnaaf9 T C 2: 130,559,248 (GRCm39) I937V probably damaging Het
Eif1 A G 11: 100,210,795 (GRCm39) probably benign Het
Exoc1 T C 5: 76,711,087 (GRCm39) I662T probably benign Het
Flt4 A G 11: 49,528,089 (GRCm39) R971G probably benign Het
Hecw2 T C 1: 53,879,928 (GRCm39) T1294A probably damaging Het
Herc2 T G 7: 55,879,410 (GRCm39) V4676G possibly damaging Het
Hif1a A G 12: 73,992,022 (GRCm39) probably benign Het
Icam5 C A 9: 20,946,822 (GRCm39) A450E possibly damaging Het
Map3k21 T A 8: 126,637,498 (GRCm39) M28K probably benign Het
Mars1 C A 10: 127,141,348 (GRCm39) R347L probably benign Het
Mctp1 A T 13: 76,905,174 (GRCm39) I426F probably benign Het
Mdn1 T C 4: 32,731,960 (GRCm39) S3007P possibly damaging Het
Mical3 T C 6: 120,998,149 (GRCm39) R65G possibly damaging Het
Ncald G T 15: 37,397,505 (GRCm39) Y58* probably null Het
Neil2 A T 14: 63,426,154 (GRCm39) I72K probably benign Het
Or8b35 C A 9: 37,904,401 (GRCm39) Y204* probably null Het
Or8k23 A G 2: 86,186,691 (GRCm39) F12L probably damaging Het
Pan2 A G 10: 128,154,189 (GRCm39) D1086G probably damaging Het
Plxnb1 A G 9: 108,935,870 (GRCm39) T1087A probably damaging Het
Prpf39 A G 12: 65,103,132 (GRCm39) M469V probably benign Het
Rassf5 T C 1: 131,140,067 (GRCm39) D164G possibly damaging Het
Setd1a T C 7: 127,385,356 (GRCm39) W688R possibly damaging Het
Sfswap C T 5: 129,616,783 (GRCm39) T409I probably damaging Het
Slc50a1 G A 3: 89,177,710 (GRCm39) probably null Het
Slfn9 G C 11: 82,872,095 (GRCm39) N880K probably damaging Het
Sprr1b T C 3: 92,344,720 (GRCm39) K52R probably benign Het
Tfb2m T C 1: 179,356,770 (GRCm39) D388G probably damaging Het
Tmem234 T C 4: 129,500,881 (GRCm39) probably benign Het
Traj43 A G 14: 54,412,201 (GRCm39) N1D Het
Trmt1l T A 1: 151,333,543 (GRCm39) I682N probably damaging Het
Trp53rka T C 2: 165,333,445 (GRCm39) D148G probably damaging Het
Vmn2r86 A G 10: 130,285,855 (GRCm39) V440A probably benign Het
Vxn C T 1: 9,683,613 (GRCm39) T67I probably benign Het
Wdfy3 C T 5: 102,085,287 (GRCm39) V736I probably benign 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
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'- GGGCTCTCAGCTAAGATCAG -3'
(R):5'- TTCAGACAGCTATGTTACTCCTAGG -3'

Sequencing Primer
(F):5'- GCTAAGATCAGACCAACTCAAGATG -3'
(R):5'- ACAGCTATGTTACTCCTAGGATTACC -3'
Posted On 2020-07-28