Incidental Mutation 'R6226:Ptprk'
ID 504348
Institutional Source Beutler Lab
Gene Symbol Ptprk
Ensembl Gene ENSMUSG00000019889
Gene Name protein tyrosine phosphatase receptor type K
Synonyms RPTPkappa, PTPk
MMRRC Submission 044397-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6226 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 27950816-28473393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 28440099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 856 (T856A)
Ref Sequence ENSEMBL: ENSMUSP00000151866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166468] [ENSMUST00000218276] [ENSMUST00000218359]
AlphaFold P35822
Predicted Effect probably benign
Transcript: ENSMUST00000166468
SMART Domains Protein: ENSMUSP00000126279
Gene: ENSMUSG00000019889

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: T856A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
Predicted Effect probably benign
Transcript: ENSMUST00000218359
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219478
Predicted Effect probably benign
Transcript: ENSMUST00000219621
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 T C 13: 12,293,853 (GRCm39) T62A probably benign Het
Adam33 G A 2: 130,897,530 (GRCm39) T265I probably damaging Het
Afap1l2 T C 19: 56,904,560 (GRCm39) T654A probably benign Het
Agrn A G 4: 156,258,066 (GRCm39) S992P probably damaging Het
Anapc1 A G 2: 128,492,292 (GRCm39) F939L probably damaging Het
Anks1 G A 17: 28,276,304 (GRCm39) V1016I probably benign Het
Ankzf1 A G 1: 75,173,238 (GRCm39) T401A probably benign Het
Atad1 G T 19: 32,678,987 (GRCm39) D105E probably benign Het
Carmil2 A G 8: 106,415,664 (GRCm39) T313A possibly damaging Het
Cdk15 T C 1: 59,304,792 (GRCm39) V131A probably damaging Het
Cldnd1 A T 16: 58,551,663 (GRCm39) probably null Het
Col16a1 A T 4: 129,948,882 (GRCm39) probably benign Het
Cts3 T A 13: 61,716,535 (GRCm39) I34L probably benign Het
Dnah7b A C 1: 46,165,828 (GRCm39) K498Q probably benign Het
Dnase2b A G 3: 146,290,318 (GRCm39) Y218H probably benign Het
Dsg2 T A 18: 20,712,506 (GRCm39) V170D probably damaging Het
Dst T C 1: 34,309,955 (GRCm39) V1543A probably damaging Het
Ell3 A T 2: 121,272,258 (GRCm39) I72K probably damaging Het
Fank1 A G 7: 133,463,927 (GRCm39) Y41C probably benign Het
Foxd3 T C 4: 99,545,261 (GRCm39) Y134H probably damaging Het
Frmd6 A G 12: 70,910,685 (GRCm39) probably benign Het
Gale A G 4: 135,692,916 (GRCm39) E53G possibly damaging Het
Glis3 A G 19: 28,294,702 (GRCm39) S699P probably damaging Het
Gm12830 T A 4: 114,702,246 (GRCm39) M136K unknown Het
Grik3 T C 4: 125,553,582 (GRCm39) V438A probably benign Het
Gsap A G 5: 21,422,429 (GRCm39) N133D probably damaging Het
Gsg1 T A 6: 135,217,110 (GRCm39) D239V probably damaging Het
H2-T10 A T 17: 36,431,975 (GRCm39) W23R probably damaging Het
Itgae A G 11: 73,031,583 (GRCm39) T1100A probably benign Het
Kcnh7 A T 2: 62,607,903 (GRCm39) F559L probably damaging Het
Kdm5b G T 1: 134,536,616 (GRCm39) R612L probably damaging Het
Lrrc74a T A 12: 86,795,231 (GRCm39) N253K possibly damaging Het
Mcm3ap A G 10: 76,351,540 (GRCm39) H1961R possibly damaging Het
Ncam1 C T 9: 49,476,304 (GRCm39) E262K probably benign Het
Nckap1 A G 2: 80,339,125 (GRCm39) S968P possibly damaging Het
Nkapd1 T C 9: 50,519,070 (GRCm39) T181A possibly damaging Het
Nr2f2 T G 7: 70,009,744 (GRCm39) S112R probably benign Het
Nup93 T C 8: 95,013,165 (GRCm39) W137R probably damaging Het
Or10ag53 A G 2: 87,082,736 (GRCm39) S152G probably benign Het
Or2t26 A G 11: 49,039,660 (GRCm39) D192G possibly damaging Het
Or4a78 A T 2: 89,497,333 (GRCm39) L299H probably damaging Het
Or52n1 A T 7: 104,383,243 (GRCm39) F109L probably damaging Het
Or8b12 T A 9: 37,657,433 (GRCm39) M1K probably null Het
Or8b55 T C 9: 38,727,666 (GRCm39) I289T probably damaging Het
Otogl A T 10: 107,607,067 (GRCm39) Y2105* probably null Het
Pibf1 A G 14: 99,338,555 (GRCm39) S24G probably damaging Het
Pitx2 C T 3: 129,009,491 (GRCm39) R130W probably damaging Het
Pkd1l1 T C 11: 8,851,287 (GRCm39) N715S probably benign Het
Pou6f2 A T 13: 18,303,739 (GRCm39) I123N possibly damaging Het
Prss29 T A 17: 25,539,513 (GRCm39) H35Q possibly damaging Het
Ptpn21 A G 12: 98,646,375 (GRCm39) F1028L probably benign Het
Ptpn21 A T 12: 98,681,431 (GRCm39) Y68N probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rpl22l1 A G 3: 28,860,676 (GRCm39) T13A possibly damaging Het
Rptn C G 3: 93,305,437 (GRCm39) H923Q possibly damaging Het
Sec14l5 G A 16: 4,994,429 (GRCm39) V408I probably damaging Het
Serpina5 T C 12: 104,068,037 (GRCm39) S33P possibly damaging Het
Sgip1 A G 4: 102,823,392 (GRCm39) N524S probably damaging Het
Shkbp1 C A 7: 27,051,405 (GRCm39) R218M probably null Het
Sorcs1 T A 19: 50,169,852 (GRCm39) I970F probably damaging Het
Spg11 A G 2: 121,918,743 (GRCm39) V962A possibly damaging Het
Sptbn1 A G 11: 30,086,054 (GRCm39) M1205T probably damaging Het
Sufu G A 19: 46,462,093 (GRCm39) V369M probably damaging Het
Tmem98 T C 11: 80,712,220 (GRCm39) F219S probably benign Het
Trim27 T C 13: 21,365,086 (GRCm39) probably benign Het
Trim43b T C 9: 88,973,328 (GRCm39) E135G possibly damaging Het
Ube2m A G 7: 12,769,815 (GRCm39) V110A probably damaging Het
Ugt2b36 A G 5: 87,239,989 (GRCm39) V132A probably damaging Het
Usp36 A T 11: 118,168,100 (GRCm39) S86T probably damaging Het
Zfp941 A T 7: 140,392,398 (GRCm39) D320E 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
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'- AAGCTGACTCTCATTAGTCCCATTAG -3'
(R):5'- AGTGGTACAATAGTCAGTAAGGTC -3'

Sequencing Primer
(F):5'- GACTCTCATTAGTCCCATTAGACATC -3'
(R):5'- GGTACAATAGTCAGTAAGGTCTTTTG -3'
Posted On 2018-02-28