Incidental Mutation 'R4651:Ptprk'
ID 351301
Institutional Source Beutler Lab
Gene Symbol Ptprk
Ensembl Gene ENSMUSG00000019889
Gene Name protein tyrosine phosphatase receptor type K
Synonyms RPTPkappa, PTPk
MMRRC Submission 041911-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4651 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 27950816-28473393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28139686 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 137 (I137T)
Ref Sequence ENSEMBL: ENSMUSP00000126279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166468] [ENSMUST00000218276] [ENSMUST00000218359]
AlphaFold P35822
Predicted Effect probably damaging
Transcript: ENSMUST00000166468
AA Change: I137T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126279
Gene: ENSMUSG00000019889
AA Change: I137T

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: I137T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000218359
AA Change: I137T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
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 0.3152 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (98/101)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
4933409G03Rik G A 2: 68,436,559 (GRCm39) E168K unknown Het
Ahnak2 T G 12: 112,741,271 (GRCm39) S128R possibly damaging Het
Ankrd26 T C 6: 118,492,787 (GRCm39) D1319G probably benign Het
Ankrd35 T C 3: 96,591,343 (GRCm39) V543A probably benign Het
Ano10 A T 9: 122,090,181 (GRCm39) Y377* probably null Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp10b G A 11: 43,085,472 (GRCm39) G284S probably damaging Het
Atp5f1c A G 2: 10,068,287 (GRCm39) F180S probably damaging Het
Btnl4 A G 17: 34,691,602 (GRCm39) S296P probably benign Het
Cast A G 13: 74,894,133 (GRCm39) S171P probably benign Het
Catsperb G A 12: 101,507,771 (GRCm39) A513T probably benign Het
Ccnf C A 17: 24,450,760 (GRCm39) R406L probably damaging Het
Ceacam12 A G 7: 17,801,359 (GRCm39) T113A probably damaging Het
Cipc T C 12: 87,008,864 (GRCm39) V241A probably benign Het
Col12a1 A T 9: 79,520,228 (GRCm39) D2815E probably damaging Het
Cpox G T 16: 58,491,050 (GRCm39) R87L possibly damaging Het
Cttnbp2 A G 6: 18,434,037 (GRCm39) I607T possibly damaging Het
Cux1 A T 5: 136,596,083 (GRCm39) N4K probably damaging Het
Cyp3a25 T C 5: 145,931,701 (GRCm39) T136A probably benign Het
Dhx58 T A 11: 100,592,185 (GRCm39) N288Y probably damaging Het
Dnah10 T C 5: 124,806,207 (GRCm39) Y127H probably benign Het
Dnd1 G A 18: 36,898,114 (GRCm39) probably benign Het
Ehmt2 C A 17: 35,132,790 (GRCm39) N1171K probably damaging Het
Fanci T A 7: 79,085,004 (GRCm39) M838K possibly damaging Het
Flot1 T C 17: 36,143,436 (GRCm39) probably benign Het
Gad2 A T 2: 22,558,374 (GRCm39) D364V probably damaging Het
Gm10375 C A 14: 43,844,326 (GRCm39) probably null Het
Gm9996 T A 10: 29,019,754 (GRCm39) probably benign Het
Gnat3 T A 5: 18,220,568 (GRCm39) L247H probably damaging Het
Ip6k3 C T 17: 27,364,265 (GRCm39) C261Y probably damaging Het
Irgc C A 7: 24,132,238 (GRCm39) R193L probably damaging Het
Kalrn G T 16: 33,996,761 (GRCm39) P1477Q probably damaging Het
Kyat1 G T 2: 30,084,076 (GRCm39) H15N probably benign Het
Lamc1 T G 1: 153,104,523 (GRCm39) S59R probably damaging Het
Llgl1 A G 11: 60,599,477 (GRCm39) D486G possibly damaging Het
Lrrc9 T C 12: 72,524,160 (GRCm39) W790R probably damaging Het
Lsm2 T A 17: 35,204,571 (GRCm39) probably benign Het
Med8 A T 4: 118,268,089 (GRCm39) E5V probably damaging Het
Mefv A G 16: 3,535,682 (GRCm39) L82P probably damaging Het
Mettl25b T C 3: 87,834,979 (GRCm39) H107R probably benign Het
Mettl3 T A 14: 52,532,549 (GRCm39) I545F probably damaging Het
Naa20 CTCTAGA C 2: 145,753,752 (GRCm39) probably benign Het
Ncapg2 T A 12: 116,389,407 (GRCm39) N342K probably damaging Het
Ndufaf6 T A 4: 11,062,070 (GRCm39) Y187F probably damaging Het
Nomo1 T A 7: 45,717,866 (GRCm39) I799N probably damaging Het
Obscn G A 11: 58,929,703 (GRCm39) R5824C probably damaging Het
Or4f6 G T 2: 111,838,595 (GRCm39) S312Y probably damaging Het
Or6c214 T C 10: 129,591,287 (GRCm39) I11V probably benign Het
Or6n2 A G 1: 173,897,394 (GRCm39) I177V possibly damaging Het
Or7g30 T A 9: 19,352,591 (GRCm39) C127* probably null Het
Pgm3 T A 9: 86,440,523 (GRCm39) R389S probably benign Het
Pkd2l2 A T 18: 34,542,889 (GRCm39) R20* probably null Het
Pkhd1 T A 1: 20,451,747 (GRCm39) I2183F probably damaging Het
Ppp4r3a T A 12: 101,049,170 (GRCm39) probably benign Het
Prpf38b G A 3: 108,811,408 (GRCm39) probably benign Het
Prpf4b A T 13: 35,083,954 (GRCm39) M908L probably benign Het
Prps2 T C X: 166,135,288 (GRCm39) D183G probably damaging Het
Prrc2c A T 1: 162,550,843 (GRCm39) H40Q probably damaging Het
Sdr42e1 T C 8: 118,390,360 (GRCm39) T94A probably benign Het
Setd2 A G 9: 110,423,200 (GRCm39) D2085G possibly damaging Het
Sgce T C 6: 4,689,560 (GRCm39) probably benign Het
Shisa3 A G 5: 67,765,992 (GRCm39) D81G probably damaging Het
Sipa1l1 T A 12: 82,469,245 (GRCm39) L1248* probably null Het
Skint7 T G 4: 111,839,309 (GRCm39) M201R probably damaging Het
Slc5a3 T A 16: 91,874,090 (GRCm39) V49E probably benign Het
Slc9c1 A T 16: 45,367,756 (GRCm39) *163L probably null Het
Smyd3 A G 1: 178,871,306 (GRCm39) Y358H probably benign Het
Srp68 A T 11: 116,164,840 (GRCm39) S31R probably benign Het
Stag1 T A 9: 100,678,769 (GRCm39) M230K probably damaging Het
Strc A T 2: 121,204,829 (GRCm39) D985E possibly damaging Het
Syne2 A G 12: 76,036,013 (GRCm39) T3767A probably damaging Het
Sytl2 C A 7: 90,024,633 (GRCm39) P207Q probably damaging Het
Tbc1d2b A G 9: 90,089,940 (GRCm39) F863S probably damaging Het
Tek T C 4: 94,669,121 (GRCm39) S41P probably damaging Het
Top1 T C 2: 160,554,637 (GRCm39) Y463H probably damaging Het
Trim24 T G 6: 37,934,774 (GRCm39) probably null Het
Trim38 A T 13: 23,966,952 (GRCm39) D133V probably damaging Het
Ttn A G 2: 76,576,979 (GRCm39) V24638A possibly damaging Het
Ttn A G 2: 76,701,213 (GRCm39) probably benign Het
Tyro3 G C 2: 119,647,349 (GRCm39) G826A probably benign Het
Ube2b A G 11: 51,886,199 (GRCm39) probably null Het
Ubxn4 T A 1: 128,202,587 (GRCm39) W410R probably benign Het
Unc45a T C 7: 79,982,777 (GRCm39) K383E possibly damaging Het
Usp7 A C 16: 8,516,278 (GRCm39) probably benign Het
Vmn1r193 C T 13: 22,403,695 (GRCm39) G99D probably damaging Het
Vrk2 T C 11: 26,439,803 (GRCm39) D256G probably damaging Het
Wdr81 A G 11: 75,342,066 (GRCm39) V1067A probably damaging Het
Wiz C T 17: 32,576,655 (GRCm39) R624Q probably damaging Het
Zcwpw2 A G 9: 117,843,119 (GRCm39) noncoding transcript 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
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'- CTCCTCAAATCATGATCCTGGAG -3'
(R):5'- TGTGTCAAGGCACTCAAACTC -3'

Sequencing Primer
(F):5'- TCATGATCCTGGAGAAAAAGCC -3'
(R):5'- GGCACTCAAACTCCTCCTCAAG -3'
Posted On 2015-10-08