Incidental Mutation 'R5568:Ptk6'
ID 436992
Institutional Source Beutler Lab
Gene Symbol Ptk6
Ensembl Gene ENSMUSG00000038751
Gene Name PTK6 protein tyrosine kinase 6
Synonyms Tksk, Sik
MMRRC Submission 043125-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5568 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 180836917-180845408 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 180841488 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 140 (N140K)
Ref Sequence ENSEMBL: ENSMUSP00000016511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016511]
AlphaFold Q64434
Predicted Effect possibly damaging
Transcript: ENSMUST00000016511
AA Change: N140K

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000016511
Gene: ENSMUSG00000038751
AA Change: N140K

DomainStartEndE-ValueType
SH3 11 71 2e-16 SMART
SH2 76 161 1.01e-28 SMART
TyrKc 191 441 1.12e-131 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.0%
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 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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 T C 4: 144,349,364 (GRCm39) V207A probably benign Het
Abcc10 C A 17: 46,614,834 (GRCm39) probably null Het
Abcc9 A C 6: 142,634,742 (GRCm39) V174G possibly damaging Het
Abl1 C T 2: 31,669,086 (GRCm39) A155V probably damaging Het
Aco2 T A 15: 81,787,787 (GRCm39) D212E probably damaging Het
Adam26b A T 8: 43,973,529 (GRCm39) M491K probably benign Het
Anapc5 G A 5: 122,929,988 (GRCm39) probably benign Het
Atf7 A G 15: 102,471,757 (GRCm39) I46T probably damaging Het
Cacna1b A G 2: 24,497,612 (GRCm39) S2100P probably damaging Het
Capn5 T A 7: 97,775,137 (GRCm39) D501V probably damaging Het
Cc2d2a A G 5: 43,866,433 (GRCm39) M748V probably damaging Het
Cd300c2 T C 11: 114,891,662 (GRCm39) T71A probably damaging Het
Chmp2a T C 7: 12,767,758 (GRCm39) M56V probably benign Het
Cilp A C 9: 65,187,515 (GRCm39) R1203S probably benign Het
Clp1 T A 2: 84,556,322 (GRCm39) K53* probably null Het
Crhbp T A 13: 95,578,737 (GRCm39) D128V probably damaging Het
Crispld1 T A 1: 17,820,495 (GRCm39) I292N probably benign Het
Cyp2c68 A T 19: 39,677,526 (GRCm39) I488N probably benign Het
Cyp3a57 A T 5: 145,307,456 (GRCm39) M149L probably benign Het
Ddx24 T A 12: 103,390,547 (GRCm39) Q59L possibly damaging Het
Ddx27 A G 2: 166,871,439 (GRCm39) H512R possibly damaging Het
Dlgap4 T A 2: 156,604,821 (GRCm39) *993K probably null Het
Dmxl2 A T 9: 54,330,643 (GRCm39) probably null Het
Dus4l A T 12: 31,696,712 (GRCm39) F88L probably damaging Het
Ep400 A T 5: 110,904,071 (GRCm39) V176E probably damaging Het
Fat3 T A 9: 16,288,219 (GRCm39) K435* probably null Het
Fsip2 T C 2: 82,816,908 (GRCm39) C4214R probably benign Het
Garin5a T G 7: 44,150,428 (GRCm39) S207A probably damaging Het
Gfral T C 9: 76,072,087 (GRCm39) *394W probably null Het
Glis1 T C 4: 107,476,832 (GRCm39) S518P probably damaging Het
H2-T10 A G 17: 36,430,079 (GRCm39) probably null Het
Hsbp1l1 T C 18: 80,278,679 (GRCm39) T35A possibly damaging Het
Ighv5-12 A G 12: 113,665,837 (GRCm39) F87S probably damaging Het
Ints13 A C 6: 146,477,855 (GRCm39) D31E probably damaging Het
Kbtbd12 C T 6: 88,595,609 (GRCm39) D74N probably damaging Het
Klrb1c A G 6: 128,765,877 (GRCm39) probably benign Het
Kmt5b A T 19: 3,836,538 (GRCm39) H25L probably benign Het
Krt28 A T 11: 99,262,210 (GRCm39) M260K probably damaging Het
Krt79 A G 15: 101,838,220 (GRCm39) S512P probably damaging Het
Lama1 A T 17: 68,075,293 (GRCm39) probably null Het
Maneal T C 4: 124,750,937 (GRCm39) E273G possibly damaging Het
Map4k3 T A 17: 80,971,427 (GRCm39) Y80F possibly damaging Het
Mbd6 A G 10: 127,119,297 (GRCm39) V946A possibly damaging Het
Mfsd14b A T 13: 65,219,936 (GRCm39) probably null Het
Mrpl46 C G 7: 78,430,242 (GRCm39) W176S probably damaging Het
Muc19 A G 15: 91,768,468 (GRCm39) noncoding transcript Het
Mup3 T G 4: 62,002,809 (GRCm39) E184A possibly damaging Het
Myo9a A G 9: 59,781,911 (GRCm39) H1699R probably benign Het
Ndrg2 T A 14: 52,144,420 (GRCm39) T269S probably damaging Het
Nfatc1 A T 18: 80,693,037 (GRCm39) V688D probably benign Het
Ninj2 T C 6: 120,175,670 (GRCm39) I101T probably benign Het
Nlrp10 T A 7: 108,523,468 (GRCm39) M671L probably benign Het
Npsr1 T A 9: 24,224,510 (GRCm39) L296I probably damaging Het
Or10d5 A G 9: 39,861,983 (GRCm39) L28P probably benign Het
Or52r1b G T 7: 102,691,517 (GRCm39) R272L possibly damaging Het
Pacsin1 T A 17: 27,927,022 (GRCm39) D242E probably damaging Het
Pcdh1 T C 18: 38,330,420 (GRCm39) Y861C probably damaging Het
Pcdha12 T C 18: 37,153,443 (GRCm39) L54P probably damaging Het
Pcdhb18 T A 18: 37,624,853 (GRCm39) S728T probably benign Het
Phyhd1 T A 2: 30,167,022 (GRCm39) H108Q probably damaging Het
Plcb1 A T 2: 135,212,513 (GRCm39) I1035F probably damaging Het
Plcl1 T C 1: 55,735,309 (GRCm39) S217P possibly damaging Het
Plppr2 G A 9: 21,852,425 (GRCm39) R103H probably damaging Het
Plxnb2 G A 15: 89,041,638 (GRCm39) T1722I probably damaging Het
Pole3 T C 4: 62,442,668 (GRCm39) N53S probably damaging Het
Rab12 C T 17: 66,804,418 (GRCm39) R180H probably damaging Het
Rab36 G T 10: 74,888,311 (GRCm39) V252L probably benign Het
Ranbp3 T C 17: 57,008,543 (GRCm39) probably null Het
Rapgef2 A G 3: 79,011,308 (GRCm39) L259P probably damaging Het
Rigi T A 4: 40,222,140 (GRCm39) M380L probably benign Het
Scaf4 GGCTGCTGCTGCTGCTGCTGCTGCTG GGCTGCTGCTGCTGCTGCTGCTG 16: 90,026,745 (GRCm39) probably benign Het
Scd2 T C 19: 44,288,142 (GRCm39) F178S probably damaging Het
Shmt2 A G 10: 127,356,250 (GRCm39) S87P probably damaging Het
Slf1 T A 13: 77,194,823 (GRCm39) D834V probably damaging Het
Sorcs2 A C 5: 36,203,874 (GRCm39) Y540* probably null Het
Srpk2 T A 5: 23,730,697 (GRCm39) Q274L possibly damaging Het
Stradb T A 1: 59,031,901 (GRCm39) M271K possibly damaging Het
Tfec T A 6: 16,867,592 (GRCm39) Q16L possibly damaging Het
Tfg T C 16: 56,521,450 (GRCm39) T63A probably benign Het
Ticrr G A 7: 79,339,715 (GRCm39) probably null Het
Ticrr T A 7: 79,345,044 (GRCm39) C1636* probably null Het
Tln2 A G 9: 67,219,147 (GRCm39) I266T probably damaging Het
Tmcc1 G C 6: 115,999,071 (GRCm39) R323G possibly damaging Het
Tnnt3 A G 7: 142,065,777 (GRCm39) E138G probably damaging Het
Tpm2 C A 4: 43,522,692 (GRCm39) E75* probably null Het
Ttn T G 2: 76,580,922 (GRCm39) T23324P probably damaging Het
Ubr4 T G 4: 139,119,349 (GRCm39) L176R probably damaging Het
Uhrf2 G T 19: 30,016,488 (GRCm39) D46Y probably damaging Het
Ulbp1 A C 10: 7,423,281 (GRCm39) S21A unknown Het
Usp17lb C T 7: 104,490,415 (GRCm39) G170R probably damaging Het
Utp15 T C 13: 98,394,433 (GRCm39) N153S probably benign Het
Vcan T A 13: 89,836,790 (GRCm39) E2918V probably damaging Het
Vmn1r174 T A 7: 23,453,919 (GRCm39) I195K probably damaging Het
Vmn1r76 C T 7: 11,665,062 (GRCm39) V16I probably benign Het
Xdh T C 17: 74,250,880 (GRCm39) D24G possibly damaging Het
Xylb T A 9: 119,190,198 (GRCm39) H68Q probably benign Het
Other mutations in Ptk6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Ptk6 APN 2 180,837,611 (GRCm39) missense probably benign 0.00
IGL01630:Ptk6 APN 2 180,838,859 (GRCm39) missense probably damaging 0.99
IGL01862:Ptk6 APN 2 180,841,433 (GRCm39) missense probably benign 0.00
IGL02231:Ptk6 APN 2 180,838,794 (GRCm39) missense probably damaging 1.00
IGL02965:Ptk6 APN 2 180,840,861 (GRCm39) splice site probably benign
R0115:Ptk6 UTSW 2 180,844,320 (GRCm39) start gained probably benign
R0139:Ptk6 UTSW 2 180,838,724 (GRCm39) splice site probably benign
R0245:Ptk6 UTSW 2 180,844,284 (GRCm39) missense probably benign
R0358:Ptk6 UTSW 2 180,840,315 (GRCm39) missense probably benign 0.01
R0416:Ptk6 UTSW 2 180,844,101 (GRCm39) missense possibly damaging 0.94
R0454:Ptk6 UTSW 2 180,844,075 (GRCm39) missense possibly damaging 0.86
R0470:Ptk6 UTSW 2 180,837,732 (GRCm39) missense probably benign
R0481:Ptk6 UTSW 2 180,844,320 (GRCm39) start gained probably benign
R1147:Ptk6 UTSW 2 180,837,590 (GRCm39) missense probably benign 0.23
R1147:Ptk6 UTSW 2 180,837,590 (GRCm39) missense probably benign 0.23
R1234:Ptk6 UTSW 2 180,844,233 (GRCm39) missense possibly damaging 0.94
R2249:Ptk6 UTSW 2 180,838,173 (GRCm39) missense probably benign 0.03
R4842:Ptk6 UTSW 2 180,838,784 (GRCm39) missense possibly damaging 0.89
R5806:Ptk6 UTSW 2 180,841,523 (GRCm39) missense possibly damaging 0.95
R6017:Ptk6 UTSW 2 180,837,605 (GRCm39) missense probably benign 0.32
R6285:Ptk6 UTSW 2 180,838,886 (GRCm39) missense probably null 1.00
R6293:Ptk6 UTSW 2 180,840,253 (GRCm39) missense probably damaging 1.00
R6468:Ptk6 UTSW 2 180,840,895 (GRCm39) missense probably benign
R7369:Ptk6 UTSW 2 180,840,254 (GRCm39) missense possibly damaging 0.86
R8256:Ptk6 UTSW 2 180,837,633 (GRCm39) nonsense probably null
R9335:Ptk6 UTSW 2 180,844,146 (GRCm39) missense probably damaging 1.00
R9439:Ptk6 UTSW 2 180,840,206 (GRCm39) missense possibly damaging 0.75
R9500:Ptk6 UTSW 2 180,837,566 (GRCm39) missense probably benign 0.07
X0062:Ptk6 UTSW 2 180,844,116 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCAATAGCCAAGGAGATTGCCC -3'
(R):5'- CCGGAAACAGAGTAGCCATG -3'

Sequencing Primer
(F):5'- AAGGAGATTGCCCTGTCCTG -3'
(R):5'- CCATGGCTTATGACAGGAGTGC -3'
Posted On 2016-10-24