Incidental Mutation 'R4842:Ptk6'
ID 371890
Institutional Source Beutler Lab
Gene Symbol Ptk6
Ensembl Gene ENSMUSG00000038751
Gene Name PTK6 protein tyrosine kinase 6
Synonyms Sik, Tksk
MMRRC Submission 042455-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4842 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 181193721-181202789 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 181196991 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 323 (N323T)
Ref Sequence ENSEMBL: ENSMUSP00000016511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016511]
AlphaFold Q64434
Predicted Effect possibly damaging
Transcript: ENSMUST00000016511
AA Change: N323T

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000016511
Gene: ENSMUSG00000038751
AA Change: N323T

SH3 11 71 2e-16 SMART
SH2 76 161 1.01e-28 SMART
TyrKc 191 441 1.12e-131 SMART
Meta Mutation Damage Score 0.1555 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 95% (107/113)
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 cytoplasmic nonreceptor protein kinase which may function as an intracellular signal transducer in epithelial tissues. Overexpression of this gene in mammary epithelial cells leads to sensitization of the cells to epidermal growth factor and results in a partially transformed phenotype. Expression of this gene has been detected at low levels in some breast tumors but not in normal breast tissue. The encoded protein has been shown to undergo autophosphorylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a null allele display increased villus length in the jejunum and ileum and increased villus epithelial cell proliferation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik A T 17: 14,943,739 (GRCm38) I43L possibly damaging Het
4930449A18Rik T A 3: 59,841,732 (GRCm38) noncoding transcript Het
9530053A07Rik T A 7: 28,150,722 (GRCm38) C1198S probably damaging Het
Abcc8 T C 7: 46,150,828 (GRCm38) K510R probably damaging Het
Adamtsl3 C T 7: 82,528,861 (GRCm38) R511C probably damaging Het
Arhgap11a T C 2: 113,839,762 (GRCm38) S339G probably damaging Het
C2cd3 A G 7: 100,416,190 (GRCm38) T728A probably benign Het
Cand1 C A 10: 119,213,546 (GRCm38) probably null Het
Catspere1 A T 1: 177,872,058 (GRCm38) noncoding transcript Het
Cd209c G T 8: 3,945,905 (GRCm38) R2S probably benign Het
Cdc16 A G 8: 13,781,644 (GRCm38) probably benign Het
Ces1g C T 8: 93,333,695 (GRCm38) E99K probably benign Het
Chrna7 A C 7: 63,212,448 (GRCm38) L10R probably benign Het
Clnk C T 5: 38,713,069 (GRCm38) probably null Het
Cntrob C G 11: 69,315,394 (GRCm38) L315F possibly damaging Het
Ctdp1 A G 18: 80,408,726 (GRCm38) S145P unknown Het
Dennd2a T C 6: 39,497,110 (GRCm38) D430G probably damaging Het
Dnajc16 A G 4: 141,774,625 (GRCm38) F298S probably damaging Het
Dock5 T C 14: 67,817,563 (GRCm38) D618G probably damaging Het
Drc3 G A 11: 60,370,535 (GRCm38) A171T probably benign Het
Ecel1 A T 1: 87,153,301 (GRCm38) N322K probably damaging Het
Eftud2 A G 11: 102,854,814 (GRCm38) F362L probably damaging Het
Egfr C T 11: 16,911,607 (GRCm38) H1129Y probably benign Het
Eif2b1 A G 5: 124,576,908 (GRCm38) S102P probably damaging Het
Erich3 T A 3: 154,704,843 (GRCm38) F112I possibly damaging Het
Fam107b T C 2: 3,778,543 (GRCm38) L261S probably damaging Het
Fam198b G A 3: 79,936,605 (GRCm38) R377H probably damaging Het
Fat3 A C 9: 15,997,587 (GRCm38) V2373G probably damaging Het
Gadd45a A T 6: 67,036,889 (GRCm38) L58Q probably damaging Het
Gipr C T 7: 19,162,676 (GRCm38) R165H probably damaging Het
Gje1 C T 10: 14,717,338 (GRCm38) G45R probably null Het
Gldc T A 19: 30,133,732 (GRCm38) N548I possibly damaging Het
Gm13035 A G 4: 146,073,423 (GRCm38) noncoding transcript Het
Gm27013 T A 6: 130,520,737 (GRCm38) noncoding transcript Het
Gm5436 A T 12: 84,258,810 (GRCm38) noncoding transcript Het
Gm6588 A T 5: 112,450,240 (GRCm38) K218* probably null Het
Grik3 C A 4: 125,691,176 (GRCm38) N612K probably damaging Het
Hfm1 C A 5: 106,892,751 (GRCm38) W716L probably damaging Het
Hist1h2bl C T 13: 21,716,064 (GRCm38) probably benign Het
Il5ra T C 6: 106,738,375 (GRCm38) Y166C probably damaging Het
Iqcb1 A G 16: 36,835,590 (GRCm38) E113G probably benign Het
Kcnk10 A T 12: 98,434,916 (GRCm38) M486K probably benign Het
Kcnv2 A G 19: 27,323,790 (GRCm38) D347G probably damaging Het
Kif21b C A 1: 136,145,220 (GRCm38) H119N probably damaging Het
Lamb1 C T 12: 31,287,433 (GRCm38) H388Y probably damaging Het
Leng9 T C 7: 4,149,386 (GRCm38) D97G probably damaging Het
Lmbr1 G A 5: 29,287,426 (GRCm38) T55I probably damaging Het
Lrp1 G T 10: 127,583,936 (GRCm38) R935S probably damaging Het
Lrp2 A T 2: 69,469,411 (GRCm38) V3099E probably benign Het
Lrrcc1 C A 3: 14,562,511 (GRCm38) D503E probably benign Het
Map1a T A 2: 121,302,086 (GRCm38) S890T probably damaging Het
Msh2 C A 17: 87,723,413 (GRCm38) A906E probably benign Het
Mybph A T 1: 134,198,495 (GRCm38) E349V probably damaging Het
Myh7b C A 2: 155,633,989 (GRCm38) L1935M probably benign Het
Myh9 T C 15: 77,769,253 (GRCm38) E1348G probably damaging Het
Myzap A G 9: 71,548,755 (GRCm38) S328P probably damaging Het
Nbeal1 T C 1: 60,253,375 (GRCm38) L1062P probably damaging Het
Nepro G A 16: 44,734,797 (GRCm38) S412N probably null Het
Nr1h3 A G 2: 91,190,218 (GRCm38) F257L probably benign Het
Nudt5 T C 2: 5,864,428 (GRCm38) V155A probably benign Het
Ofcc1 G A 13: 40,015,388 (GRCm38) T841I probably damaging Het
Olfr522 A G 7: 140,162,689 (GRCm38) L87P possibly damaging Het
Olfr539 A T 7: 140,667,589 (GRCm38) I94F probably damaging Het
Olfr653 A T 7: 104,580,215 (GRCm38) I190L probably benign Het
Pde1a T A 2: 80,128,837 (GRCm38) probably benign Het
Pde4dip T A 3: 97,793,528 (GRCm38) H220L probably damaging Het
Pde9a T A 17: 31,443,161 (GRCm38) probably null Het
Pnkp C A 7: 44,861,646 (GRCm38) probably null Het
Pnpla7 A G 2: 24,980,052 (GRCm38) T15A probably benign Het
Polq G T 16: 37,048,783 (GRCm38) probably null Het
Ppfia2 C T 10: 106,854,957 (GRCm38) T553I probably benign Het
Rhox3c G A X: 37,470,424 (GRCm38) A60T probably damaging Het
Rnf4 T A 5: 34,348,709 (GRCm38) V61E probably damaging Het
Rnf5 A G 17: 34,602,003 (GRCm38) probably benign Het
Sardh A G 2: 27,191,955 (GRCm38) V853A probably benign Het
Scfd1 T C 12: 51,389,326 (GRCm38) V86A probably damaging Het
Scube3 G A 17: 28,164,123 (GRCm38) C425Y probably damaging Het
Sema5a C T 15: 32,609,417 (GRCm38) H490Y probably benign Het
Sfta2 T C 17: 35,649,881 (GRCm38) probably benign Het
Sh3d19 T C 3: 86,123,742 (GRCm38) Y738H probably damaging Het
Shc2 T C 10: 79,622,461 (GRCm38) R463G probably damaging Het
Socs7 T A 11: 97,377,003 (GRCm38) I320N possibly damaging Het
Speer2 A T 16: 69,858,100 (GRCm38) M159K probably benign Het
Sppl2c A C 11: 104,187,652 (GRCm38) H426P probably benign Het
Stag3 T G 5: 138,309,365 (GRCm38) probably null Het
Stxbp5 C A 10: 9,762,891 (GRCm38) V1055L probably benign Het
Synpo A T 18: 60,603,612 (GRCm38) S421T probably damaging Het
Taf6l A G 19: 8,782,406 (GRCm38) V135A possibly damaging Het
Tas2r116 G A 6: 132,855,697 (GRCm38) S87N probably benign Het
Tomm6 T C 17: 47,688,069 (GRCm38) probably benign Het
Trabd T C 15: 89,082,712 (GRCm38) M113T probably benign Het
Trim58 G A 11: 58,651,324 (GRCm38) G370E probably damaging Het
Ttc41 C T 10: 86,731,125 (GRCm38) R552C probably benign Het
Vit T C 17: 78,601,879 (GRCm38) S252P probably benign Het
Vma21-ps T A 4: 52,496,943 (GRCm38) D101V probably damaging Het
Vmn1r173 A T 7: 23,702,936 (GRCm38) I199F probably damaging Het
Vmn2r114 T A 17: 23,310,362 (GRCm38) R255S probably benign Het
Vmn2r17 A G 5: 109,434,380 (GRCm38) N545S probably damaging Het
Zfp865 A G 7: 5,031,641 (GRCm38) Y875C probably damaging Het
Other mutations in Ptk6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Ptk6 APN 2 181,195,818 (GRCm38) missense probably benign 0.00
IGL01630:Ptk6 APN 2 181,197,066 (GRCm38) missense probably damaging 0.99
IGL01862:Ptk6 APN 2 181,199,640 (GRCm38) missense probably benign 0.00
IGL02231:Ptk6 APN 2 181,197,001 (GRCm38) missense probably damaging 1.00
IGL02965:Ptk6 APN 2 181,199,068 (GRCm38) splice site probably benign
R0115:Ptk6 UTSW 2 181,202,527 (GRCm38) start gained probably benign
R0139:Ptk6 UTSW 2 181,196,931 (GRCm38) splice site probably benign
R0245:Ptk6 UTSW 2 181,202,491 (GRCm38) missense probably benign
R0358:Ptk6 UTSW 2 181,198,522 (GRCm38) missense probably benign 0.01
R0416:Ptk6 UTSW 2 181,202,308 (GRCm38) missense possibly damaging 0.94
R0454:Ptk6 UTSW 2 181,202,282 (GRCm38) missense possibly damaging 0.86
R0470:Ptk6 UTSW 2 181,195,939 (GRCm38) missense probably benign
R0481:Ptk6 UTSW 2 181,202,527 (GRCm38) start gained probably benign
R1147:Ptk6 UTSW 2 181,195,797 (GRCm38) missense probably benign 0.23
R1147:Ptk6 UTSW 2 181,195,797 (GRCm38) missense probably benign 0.23
R1234:Ptk6 UTSW 2 181,202,440 (GRCm38) missense possibly damaging 0.94
R2249:Ptk6 UTSW 2 181,196,380 (GRCm38) missense probably benign 0.03
R5568:Ptk6 UTSW 2 181,199,695 (GRCm38) missense possibly damaging 0.47
R5806:Ptk6 UTSW 2 181,199,730 (GRCm38) missense possibly damaging 0.95
R6017:Ptk6 UTSW 2 181,195,812 (GRCm38) missense probably benign 0.32
R6285:Ptk6 UTSW 2 181,197,093 (GRCm38) missense probably null 1.00
R6293:Ptk6 UTSW 2 181,198,460 (GRCm38) missense probably damaging 1.00
R6468:Ptk6 UTSW 2 181,199,102 (GRCm38) missense probably benign
R7369:Ptk6 UTSW 2 181,198,461 (GRCm38) missense possibly damaging 0.86
R8256:Ptk6 UTSW 2 181,195,840 (GRCm38) nonsense probably null
R9335:Ptk6 UTSW 2 181,202,353 (GRCm38) missense probably damaging 1.00
R9439:Ptk6 UTSW 2 181,198,413 (GRCm38) missense possibly damaging 0.75
R9500:Ptk6 UTSW 2 181,195,773 (GRCm38) missense probably benign 0.07
X0062:Ptk6 UTSW 2 181,202,323 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-03-01