Incidental Mutation 'R1654:Ptprk'
ID 188948
Institutional Source Beutler Lab
Gene Symbol Ptprk
Ensembl Gene ENSMUSG00000019889
Gene Name protein tyrosine phosphatase receptor type K
Synonyms RPTPkappa, PTPk
MMRRC Submission 039690-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1654 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 27950816-28473393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 28259643 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 361 (R361H)
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: R361H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000126279
Gene: ENSMUSG00000019889
AA Change: R361H

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: R361H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000218359
AA Change: R361H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218584
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218633
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219478
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik C T 11: 109,688,225 (GRCm39) S90N probably benign Het
Apc2 C T 10: 80,137,676 (GRCm39) T39I possibly damaging Het
Arfgef3 C T 10: 18,500,896 (GRCm39) R1118K probably null Het
Arhgef12 T C 9: 42,908,956 (GRCm39) D658G possibly damaging Het
Asph G T 4: 9,453,315 (GRCm39) R736S probably benign Het
Bcas1 C T 2: 170,191,166 (GRCm39) G542E probably damaging Het
Brd8 A T 18: 34,744,279 (GRCm39) V183E probably damaging Het
C1rl G A 6: 124,470,869 (GRCm39) G59E probably damaging Het
Cacna1i C A 15: 80,273,411 (GRCm39) A1699D probably damaging Het
Card6 G T 15: 5,128,214 (GRCm39) Q1061K probably benign Het
Cd163 G T 6: 124,294,540 (GRCm39) C566F probably damaging Het
Cd84 C T 1: 171,712,173 (GRCm39) T263I possibly damaging Het
Cep63 T C 9: 102,464,112 (GRCm39) I740V possibly damaging Het
Chaf1b C A 16: 93,691,791 (GRCm39) A279D probably damaging Het
Chsy3 A T 18: 59,309,488 (GRCm39) Y247F probably damaging Het
Cpxm1 G A 2: 130,235,466 (GRCm39) L509F possibly damaging Het
Disc1 A T 8: 125,875,204 (GRCm39) Q558L possibly damaging Het
Dnah3 A T 7: 119,525,672 (GRCm39) L3894Q probably damaging Het
Dnmt1 G T 9: 20,847,870 (GRCm39) T105N possibly damaging Het
Dock6 A T 9: 21,716,139 (GRCm39) L1732Q probably damaging Het
Dsc2 T C 18: 20,179,303 (GRCm39) N255S probably benign Het
Dsel A T 1: 111,790,242 (GRCm39) Y98N probably damaging Het
Enox1 T A 14: 77,848,814 (GRCm39) I375N possibly damaging Het
Epha4 T A 1: 77,351,405 (GRCm39) probably null Het
Fktn A G 4: 53,761,220 (GRCm39) I446V probably benign Het
Garin4 T C 1: 190,895,678 (GRCm39) R322G probably benign Het
Gm7361 G T 5: 26,466,097 (GRCm39) R153L probably damaging Het
Grin2c C T 11: 115,151,679 (GRCm39) V94I probably benign Het
Kalrn T G 16: 33,796,108 (GRCm39) L1222F probably damaging Het
Krt80 T C 15: 101,249,590 (GRCm39) K255E probably damaging Het
Lcn6 T A 2: 25,570,787 (GRCm39) probably null Het
Lonp2 T G 8: 87,358,078 (GRCm39) L100V probably damaging Het
Lyn G A 4: 3,789,912 (GRCm39) A482T probably damaging Het
Mapk4 A G 18: 74,064,010 (GRCm39) F404S probably damaging Het
Mast2 T C 4: 116,173,747 (GRCm39) probably null Het
Medag T C 5: 149,345,600 (GRCm39) Y94H probably damaging Het
Megf8 T C 7: 25,037,911 (GRCm39) L809P possibly damaging Het
Mgam T C 6: 40,734,421 (GRCm39) S743P probably damaging Het
Mia2 C A 12: 59,155,619 (GRCm39) T445K possibly damaging Het
Mtcl3 A T 10: 29,022,931 (GRCm39) probably null Het
Nars1 C G 18: 64,645,120 (GRCm39) A43P probably damaging Het
Nav3 T C 10: 109,688,984 (GRCm39) N431S possibly damaging Het
Ndufaf5 A G 2: 140,019,220 (GRCm39) probably null Het
Nlrp1b T G 11: 71,072,124 (GRCm39) E573A probably damaging Het
Nlrp3 T C 11: 59,433,949 (GRCm39) V4A probably benign Het
Or2y1d G A 11: 49,321,329 (GRCm39) G9R probably benign Het
Or56b2 A T 7: 104,337,420 (GRCm39) Y66F probably benign Het
Or5ac15 T C 16: 58,940,052 (GRCm39) N127S possibly damaging Het
Pcdhb12 A T 18: 37,569,754 (GRCm39) D300V probably damaging Het
Pik3c2a A T 7: 115,968,083 (GRCm39) C804S probably benign Het
Pkp4 A T 2: 59,167,963 (GRCm39) Q725L probably damaging Het
Ptpre T A 7: 135,255,657 (GRCm39) S119T probably benign Het
Ptprr T C 10: 116,024,268 (GRCm39) V193A probably benign Het
Rfx2 C T 17: 57,115,263 (GRCm39) A19T probably benign Het
Rgs4 T A 1: 169,572,880 (GRCm39) M19L probably benign Het
Rnf157 T C 11: 116,249,541 (GRCm39) H225R probably damaging Het
Rnf44 A T 13: 54,829,592 (GRCm39) D341E possibly damaging Het
Sct T A 7: 140,858,767 (GRCm39) Q55L probably damaging Het
Sh3rf1 A T 8: 61,814,779 (GRCm39) H446L possibly damaging Het
Shisa3 A T 5: 67,768,402 (GRCm39) I101F probably damaging Het
Slc6a13 A G 6: 121,313,885 (GRCm39) I543V probably benign Het
Spef2 G A 15: 9,634,738 (GRCm39) A1024V probably damaging Het
St6galnac6 T C 2: 32,509,521 (GRCm39) S330P probably damaging Het
Stard9 G T 2: 120,534,203 (GRCm39) A3487S probably benign Het
Suclg2 T C 6: 95,632,532 (GRCm39) S46G probably damaging Het
Syne2 T C 12: 76,147,868 (GRCm39) V6469A possibly damaging Het
Tada2b C T 5: 36,641,139 (GRCm39) G88D probably damaging Het
Tll1 A T 8: 64,570,937 (GRCm39) probably null Het
Tph2 T A 10: 115,020,712 (GRCm39) H28L probably benign Het
Trmt6 C A 2: 132,657,755 (GRCm39) V34L possibly damaging Het
Ttc22 A G 4: 106,491,408 (GRCm39) T204A probably damaging Het
Umodl1 A T 17: 31,206,942 (GRCm39) M778L probably benign Het
Vcan T C 13: 89,810,065 (GRCm39) H2282R probably damaging Het
Vmn2r77 T A 7: 86,461,123 (GRCm39) S816R probably damaging Het
Vps13c T A 9: 67,858,969 (GRCm39) F2806L probably damaging Het
Zbtb4 C A 11: 69,669,995 (GRCm39) A906D probably damaging Het
Zscan29 A G 2: 120,995,260 (GRCm39) V421A 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
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'- TTGCTGATCCAACTAAATGCCAACTCT -3'
(R):5'- AGTTTCAAAACGCTCTCATACTGCTCT -3'

Sequencing Primer
(F):5'- CAACTCTATTATTGGCGATGGC -3'
(R):5'- atatGCCTAAATCATACACCAAATGG -3'
Posted On 2014-05-09