Incidental Mutation 'R5004:Ptprk'
ID 390080
Institutional Source Beutler Lab
Gene Symbol Ptprk
Ensembl Gene ENSMUSG00000019889
Gene Name protein tyrosine phosphatase receptor type K
Synonyms RPTPkappa, PTPk
MMRRC Submission 042597-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5004 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 27950816-28473393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 28462059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1181 (D1181E)
Ref Sequence ENSEMBL: ENSMUSP00000151986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166468] [ENSMUST00000218276] [ENSMUST00000218359] [ENSMUST00000220357]
AlphaFold P35822
Predicted Effect possibly damaging
Transcript: ENSMUST00000166468
AA Change: D1193E

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126279
Gene: ENSMUSG00000019889
AA Change: D1193E

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 benign
Transcript: ENSMUST00000218276
AA Change: D1207E

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect possibly damaging
Transcript: ENSMUST00000218359
AA Change: D1181E

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000220357
AA Change: D122E

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220404
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik A C 8: 13,605,927 (GRCm39) D189E possibly damaging Het
Abca5 C T 11: 110,170,202 (GRCm39) E1298K probably damaging Het
Actg1 C A 11: 120,238,986 (GRCm39) probably benign Het
Add2 A G 6: 86,073,728 (GRCm39) T206A probably benign Het
Alox12e A G 11: 70,212,330 (GRCm39) V116A probably benign Het
Ankrd27 T A 7: 35,307,800 (GRCm39) D346E probably damaging Het
Arfgap3 T A 15: 83,194,497 (GRCm39) S391C possibly damaging Het
Bcor C T X: 11,906,725 (GRCm39) R1551Q probably damaging Het
Cars2 C T 8: 11,568,956 (GRCm39) probably null Het
Cav3 A G 6: 112,436,885 (GRCm39) K38R probably damaging Het
Ccdc159 G A 9: 21,844,241 (GRCm39) R101H probably damaging Het
Cops7b A G 1: 86,515,132 (GRCm39) probably benign Het
Cyp4a12b C T 4: 115,295,310 (GRCm39) T472I probably benign Het
Cyp4a32 T C 4: 115,458,238 (GRCm39) S23P probably damaging Het
Cyp4f13 T G 17: 33,144,760 (GRCm39) I275L probably benign Het
Dlgap1 T A 17: 71,025,222 (GRCm39) probably null Het
Dnajc12 A T 10: 63,222,486 (GRCm39) I4L probably benign Het
Ephb2 T A 4: 136,387,010 (GRCm39) D739V possibly damaging Het
Fam169a A G 13: 97,234,100 (GRCm39) Y124C probably damaging Het
Fbln5 T A 12: 101,727,080 (GRCm39) N303I probably damaging Het
Fdxr T C 11: 115,160,399 (GRCm39) E352G probably benign Het
Fhad1 T G 4: 141,729,910 (GRCm39) probably null Het
Fhod1 C T 8: 106,063,577 (GRCm39) probably benign Het
Fndc7 G A 3: 108,790,789 (GRCm39) T79M probably damaging Het
Fry A G 5: 150,357,069 (GRCm39) Q1872R probably benign Het
Gbx1 T C 5: 24,709,837 (GRCm39) H336R probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gpr15lg A T 14: 36,824,622 (GRCm39) C60S probably damaging Het
Hacl1 C A 14: 31,340,996 (GRCm39) C346F probably benign Het
Hectd4 C A 5: 121,466,262 (GRCm39) probably null Het
Hectd4 C T 5: 121,467,628 (GRCm39) P2526S possibly damaging Het
Il3ra A T 14: 14,355,381 (GRCm38) E289D probably benign Het
Itih4 T G 14: 30,614,629 (GRCm39) L497R probably damaging Het
Kcnh3 A T 15: 99,124,383 (GRCm39) K91* probably null Het
Kiz C G 2: 146,811,899 (GRCm39) D669E possibly damaging Het
Klhl30 T A 1: 91,287,046 (GRCm39) probably null Het
Kndc1 C A 7: 139,512,792 (GRCm39) C1514* probably null Het
Lipo2 A G 19: 33,699,076 (GRCm39) probably null Het
Macf1 T C 4: 123,279,268 (GRCm39) D5921G probably damaging Het
Mau2 A G 8: 70,478,537 (GRCm39) Y394H probably damaging Het
Mctp1 T A 13: 76,789,923 (GRCm39) S50R possibly damaging Het
Mllt10 T C 2: 18,175,079 (GRCm39) Y3H probably damaging Het
Mon1b T C 8: 114,365,859 (GRCm39) S396P probably damaging Het
Mrgpra4 A C 7: 47,631,535 (GRCm39) L22R probably benign Het
Msln T G 17: 25,973,193 (GRCm39) M1L possibly damaging Het
Myh15 T A 16: 48,952,411 (GRCm39) I827N probably damaging Het
Myh7 T C 14: 55,209,140 (GRCm39) D1866G probably damaging Het
Myo5b T G 18: 74,877,844 (GRCm39) probably null Het
Nlrc5 T G 8: 95,247,844 (GRCm39) probably benign Het
Nup210l A T 3: 90,087,472 (GRCm39) R1082* probably null Het
Or12k7 A G 2: 36,958,422 (GRCm39) Y35C probably damaging Het
Or4f4b G A 2: 111,314,005 (GRCm39) V105I possibly damaging Het
Or5p63 T A 7: 107,811,323 (GRCm39) K138* probably null Het
Or7e169 T C 9: 19,757,398 (GRCm39) I172M probably benign Het
Pi4ka A T 16: 17,195,033 (GRCm39) C122S probably damaging Het
Pkd2l1 G T 19: 44,138,016 (GRCm39) A690E probably benign Het
Pramel22 T C 4: 143,380,706 (GRCm39) Q439R probably benign Het
Prickle2 A T 6: 92,393,736 (GRCm39) D312E probably benign Het
Prrc2a T A 17: 35,368,974 (GRCm39) N2021Y probably benign Het
Prss3 T C 6: 41,350,836 (GRCm39) Y218C probably damaging Het
Psg20 T C 7: 18,414,837 (GRCm39) T350A probably damaging Het
Ptprg A T 14: 12,220,667 (GRCm38) I1235F probably damaging Het
Rcc2 T A 4: 140,444,977 (GRCm39) S415T possibly damaging Het
Ripor1 CAA CA 8: 106,345,452 (GRCm39) probably null Het
Rnf31 T C 14: 55,829,639 (GRCm39) L68P probably damaging Het
Rsph6a A T 7: 18,791,665 (GRCm39) E278V possibly damaging Het
Rubcnl C T 14: 75,269,617 (GRCm39) Q92* probably null Het
Scfd1 A G 12: 51,491,777 (GRCm39) R580G probably benign Het
Sec31a A T 5: 100,516,192 (GRCm39) N967K probably damaging Het
Sema4b C A 7: 79,866,093 (GRCm39) T154N probably benign Het
Septin14 T A 5: 129,770,040 (GRCm39) I219F possibly damaging Het
Serpinb9c A T 13: 33,334,338 (GRCm39) S235T probably benign Het
Setd4 G T 16: 93,388,133 (GRCm39) H118N probably benign Het
Siglec1 C T 2: 130,911,789 (GRCm39) V1697M probably benign Het
Siglec1 A T 2: 130,915,331 (GRCm39) L1420Q possibly damaging Het
Soat2 T A 15: 102,069,546 (GRCm39) H402Q probably damaging Het
Sp3 A T 2: 72,768,633 (GRCm39) V666D probably benign Het
Spef2 T G 15: 9,578,413 (GRCm39) S1704R probably benign Het
Spidr A T 16: 15,936,806 (GRCm39) W100R possibly damaging Het
Steap1 G T 5: 5,792,829 (GRCm39) Y27* probably null Het
Svep1 G T 4: 58,087,751 (GRCm39) T1776K probably benign Het
Tdpoz1 T A 3: 93,578,440 (GRCm39) T115S probably benign Het
Tet2 A T 3: 133,193,140 (GRCm39) H431Q possibly damaging Het
Tnrc6c T G 11: 117,611,872 (GRCm39) V170G probably benign Het
Tom1 T C 8: 75,778,630 (GRCm39) L99P probably damaging Het
Trim11 C A 11: 58,872,164 (GRCm39) probably benign Het
Trio T C 15: 27,755,264 (GRCm39) K955R probably damaging Het
Tubd1 C T 11: 86,452,146 (GRCm39) T371I probably damaging Het
Usp17lb C T 7: 104,490,884 (GRCm39) M13I probably benign Het
Usp29 A G 7: 6,965,158 (GRCm39) M334V probably benign Het
Usp34 A G 11: 23,414,586 (GRCm39) Y2843C probably damaging Het
Utp20 A T 10: 88,584,135 (GRCm39) I2674N probably damaging Het
Vmn2r14 T G 5: 109,368,246 (GRCm39) T249P probably benign Het
Vmn2r43 A T 7: 8,247,848 (GRCm39) F772I probably damaging Het
Vmn2r51 T A 7: 9,821,932 (GRCm39) E584D probably benign Het
Zbtb22 G T 17: 34,136,217 (GRCm39) A121S probably benign Het
Zfp273 A T 13: 67,973,673 (GRCm39) H267L probably damaging Het
Zkscan2 C T 7: 123,089,267 (GRCm39) V335M 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
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'- TCTCGGCGCATTAATATGGTAC -3'
(R):5'- TTTTGCCTGTCAGGATATAGCAG -3'

Sequencing Primer
(F):5'- GTGTCTACCATATACCAAATGGGAC -3'
(R):5'- GCCTGTCAGGATATAGCAGATATC -3'
Posted On 2016-06-06