Incidental Mutation 'R0035:Ptprk'
ID 19423
Institutional Source Beutler Lab
Gene Symbol Ptprk
Ensembl Gene ENSMUSG00000019889
Gene Name protein tyrosine phosphatase receptor type K
Synonyms RPTPkappa, PTPk
MMRRC Submission 038329-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0035 (G1)
Quality Score 225
Status Validated (trace)
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: 99.1%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 87.1%
Validation Efficiency 99% (70/71)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110040N11Rik T C 7: 81,438,297 (GRCm39) T20A probably benign Het
Aadacl4 A G 4: 144,344,511 (GRCm39) T96A probably damaging Het
Abcb6 A G 1: 75,151,651 (GRCm39) V473A possibly damaging Het
Abo C A 2: 26,733,385 (GRCm39) K273N possibly damaging Het
Acvr1c A G 2: 58,205,791 (GRCm39) probably benign Het
Adcy8 A T 15: 64,571,217 (GRCm39) V1142D probably benign Het
Akna T A 4: 63,300,682 (GRCm39) H591L probably benign Het
Aox1 T C 1: 58,393,581 (GRCm39) V1247A probably benign Het
Ap4b1 T C 3: 103,727,980 (GRCm39) probably benign Het
Armh3 A T 19: 45,879,679 (GRCm39) M558K probably damaging Het
Atm A G 9: 53,424,480 (GRCm39) V607A probably benign Het
Bltp1 T A 3: 37,041,747 (GRCm39) Y2708* probably null Het
Cass4 C T 2: 172,258,412 (GRCm39) P137S probably damaging Het
Cfap53 A G 18: 74,433,278 (GRCm39) E121G probably damaging Het
Chmp6 T C 11: 119,807,508 (GRCm39) V31A probably damaging Het
Clec4a3 T A 6: 122,944,508 (GRCm39) Y185N probably damaging Het
Clic5 A G 17: 44,586,200 (GRCm39) T230A probably damaging Het
Clspn G T 4: 126,458,796 (GRCm39) probably null Het
Cntn1 T A 15: 92,129,969 (GRCm39) probably benign Het
Col4a3 G A 1: 82,650,474 (GRCm39) G577R unknown Het
Defa21 T A 8: 21,515,784 (GRCm39) probably null Het
Deup1 T C 9: 15,511,117 (GRCm39) R221G possibly damaging Het
Dnah8 A T 17: 30,902,595 (GRCm39) probably benign Het
Dnase1l2 A G 17: 24,660,049 (GRCm39) V273A probably damaging Het
Gm5134 T A 10: 75,829,698 (GRCm39) F328Y probably benign Het
Golph3 A T 15: 12,339,776 (GRCm39) E96D probably damaging Het
Hspd1 A G 1: 55,122,942 (GRCm39) V151A probably benign Het
Htr1f A C 16: 64,746,860 (GRCm39) I144S probably damaging Het
Il23r A G 6: 67,450,772 (GRCm39) probably benign Het
Il25 A G 14: 55,170,553 (GRCm39) E42G probably damaging Het
Il36b A T 2: 24,049,890 (GRCm39) H167L probably benign Het
Klrb1-ps1 C T 6: 129,106,306 (GRCm39) A149V possibly damaging Het
Kmt2e T A 5: 23,690,619 (GRCm39) probably benign Het
Ktn1 A G 14: 47,967,836 (GRCm39) N1167D probably benign Het
Lama4 T A 10: 38,948,734 (GRCm39) D832E probably benign Het
Map1b A G 13: 99,571,846 (GRCm39) S292P probably damaging Het
Map6 C T 7: 98,966,815 (GRCm39) T345I probably damaging Het
Mark2 A T 19: 7,262,017 (GRCm39) probably benign Het
Me3 C A 7: 89,500,967 (GRCm39) H559Q probably benign Het
Myo1b A G 1: 51,817,541 (GRCm39) F574L probably damaging Het
Nos2 T C 11: 78,836,553 (GRCm39) S431P probably damaging Het
Nr1h5 T A 3: 102,856,889 (GRCm39) K208* probably null Het
Nup214 T C 2: 31,880,379 (GRCm39) probably null Het
Obp2b T C 2: 25,628,645 (GRCm39) L133P probably damaging Het
Or14a259 T C 7: 86,013,395 (GRCm39) D50G possibly damaging Het
Or5k1 A T 16: 58,617,485 (GRCm39) C241* probably null Het
Osbp2 C T 11: 3,667,997 (GRCm39) probably benign Het
Ptafr C A 4: 132,306,864 (GRCm39) L85I probably benign Het
Rad50 A G 11: 53,545,854 (GRCm39) probably benign Het
Rasef G T 4: 73,681,091 (GRCm39) probably benign Het
Slitrk6 A T 14: 110,987,364 (GRCm39) L781H probably damaging Het
Tbc1d1 T A 5: 64,414,080 (GRCm39) I18N probably damaging Het
Tbc1d17 T C 7: 44,490,832 (GRCm39) N587D probably benign Het
Trank1 A T 9: 111,195,844 (GRCm39) K1289N probably benign Het
Tspyl3 A G 2: 153,066,240 (GRCm39) S333P probably damaging Het
Ush2a G A 1: 188,089,085 (GRCm39) V347I probably benign Het
Usp17le G T 7: 104,418,269 (GRCm39) S291* probably null Het
Usp24 T A 4: 106,225,224 (GRCm39) S619T probably benign Het
Vmn2r10 T C 5: 109,145,467 (GRCm39) probably benign Het
Vmn2r78 A G 7: 86,569,413 (GRCm39) E102G probably benign Het
Vwa3b G A 1: 37,204,770 (GRCm39) V85I possibly damaging Het
Wwp1 A C 4: 19,631,116 (GRCm39) I639R probably damaging Het
Xpo5 A G 17: 46,551,101 (GRCm39) T1001A probably benign Het
Zc3h12c A T 9: 52,055,047 (GRCm39) M235K probably benign Het
Zfp619 G A 7: 39,186,706 (GRCm39) G912D 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
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
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'- GAACCTGAATCCGACTCCTGCTTG -3'
(R):5'- TAGTTCAGCCCGAAGCCAATCACG -3'

Sequencing Primer
(F):5'- GACCCTAAGTTAGCAGTTATGTCC -3'
(R):5'- TCCAAATTGGATTAGCAAGAGGTC -3'
Posted On 2013-04-11