Incidental Mutation 'R0481:Ptk6'
ID 98868
Institutional Source Beutler Lab
Gene Symbol Ptk6
Ensembl Gene ENSMUSG00000038751
Gene Name PTK6 protein tyrosine kinase 6
Synonyms Tksk, Sik
MMRRC Submission 038681-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0481 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 180836917-180845408 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) G to A at 180844320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000016511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016498] [ENSMUST00000016511]
AlphaFold Q64434
Predicted Effect probably benign
Transcript: ENSMUST00000016498
SMART Domains Protein: ENSMUSP00000016498
Gene: ENSMUSG00000027579

DomainStartEndE-ValueType
SH3 69 126 3.13e-9 SMART
SH2 133 218 5.29e-32 SMART
TyrKc 245 495 2.75e-135 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000016511
SMART Domains Protein: ENSMUSP00000016511
Gene: ENSMUSG00000038751

DomainStartEndE-ValueType
SH3 11 71 2e-16 SMART
SH2 76 161 1.01e-28 SMART
TyrKc 191 441 1.12e-131 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 95% (89/94)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 T A 9: 44,190,666 (GRCm39) N39Y probably benign Het
Adamts10 C T 17: 33,768,347 (GRCm39) Q840* probably null Het
Aff2 C T X: 68,878,248 (GRCm39) T678I probably damaging Het
Ahctf1 A G 1: 179,587,836 (GRCm39) V1418A probably benign Het
Ankrd11 G A 8: 123,626,775 (GRCm39) R136C probably damaging Het
Arf5 A G 6: 28,426,075 (GRCm39) Y154C probably damaging Het
AW551984 A G 9: 39,511,912 (GRCm39) V33A probably null Het
B4galt5 A G 2: 167,151,154 (GRCm39) L118P probably damaging Het
Bcl9l A G 9: 44,417,979 (GRCm39) I606V probably benign Het
Bdp1 A G 13: 100,177,962 (GRCm39) I1969T probably benign Het
Bicd1 A T 6: 149,413,389 (GRCm39) D260V possibly damaging Het
Cap1 A T 4: 122,756,868 (GRCm39) H272Q possibly damaging Het
Ccnk A G 12: 108,165,568 (GRCm39) probably benign Het
Cd209f A T 8: 4,155,558 (GRCm39) probably null Het
Cdk13 C A 13: 17,894,079 (GRCm39) A1123S probably damaging Het
Cdx1 C T 18: 61,153,564 (GRCm39) R158H probably damaging Het
Chd8 A G 14: 52,474,663 (GRCm39) S123P probably benign Het
Cwc22 G A 2: 77,738,455 (GRCm39) A497V probably damaging Het
Cwh43 T C 5: 73,575,370 (GRCm39) S296P probably damaging Het
Dhx38 A T 8: 110,282,848 (GRCm39) probably benign Het
Dnah5 T A 15: 28,383,745 (GRCm39) M2989K probably benign Het
Dpy19l4 A C 4: 11,272,993 (GRCm39) probably benign Het
F11r A T 1: 171,288,847 (GRCm39) H155L probably benign Het
Fcgbpl1 A T 7: 27,853,174 (GRCm39) D1487V probably damaging Het
Fitm2 A G 2: 163,311,634 (GRCm39) V193A probably benign Het
Foxk1 T A 5: 142,434,578 (GRCm39) S281T probably benign Het
Furin A G 7: 80,043,297 (GRCm39) C305R probably damaging Het
Fut8 T A 12: 77,495,334 (GRCm39) V308D probably damaging Het
Gjb3 T A 4: 127,220,125 (GRCm39) I136F probably benign Het
Glmn A T 5: 107,708,800 (GRCm39) S385T probably benign Het
Glp1r T A 17: 31,150,191 (GRCm39) M371K probably benign Het
Gpr179 T C 11: 97,240,544 (GRCm39) H293R probably damaging Het
H2-M11 A T 17: 36,859,846 (GRCm39) R280* probably null Het
Hadhb T A 5: 30,373,543 (GRCm39) H78Q probably damaging Het
Hectd4 A G 5: 121,433,569 (GRCm39) probably benign Het
Hexa A G 9: 59,462,693 (GRCm39) probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Hyal6 G A 6: 24,743,417 (GRCm39) C371Y probably damaging Het
Il1rap T C 16: 26,511,585 (GRCm39) Y210H probably damaging Het
Ino80 A T 2: 119,261,497 (GRCm39) H722Q probably damaging Het
Kcnt1 A G 2: 25,782,508 (GRCm39) N200S probably damaging Het
Kif27 T A 13: 58,459,078 (GRCm39) probably benign Het
Lyst T C 13: 13,852,537 (GRCm39) V2179A probably benign Het
Macf1 C A 4: 123,377,815 (GRCm39) probably null Het
Mamdc4 A G 2: 25,461,228 (GRCm39) M1T probably null Het
Mansc4 A G 6: 146,976,725 (GRCm39) I297T possibly damaging Het
Mdn1 G A 4: 32,767,182 (GRCm39) probably benign Het
Mib2 A G 4: 155,740,519 (GRCm39) probably benign Het
Mon2 A G 10: 122,849,301 (GRCm39) V1333A possibly damaging Het
Ndst2 T C 14: 20,774,536 (GRCm39) D840G possibly damaging Het
Nell2 A T 15: 95,330,563 (GRCm39) probably null Het
Or4c102 A T 2: 88,422,999 (GRCm39) I284F probably damaging Het
Or4k51 T A 2: 111,584,930 (GRCm39) M112K probably damaging Het
Or5g29 C A 2: 85,421,448 (GRCm39) A188E possibly damaging Het
Pde5a C T 3: 122,611,726 (GRCm39) probably benign Het
Phip A G 9: 82,758,769 (GRCm39) probably benign Het
Polr2b A G 5: 77,479,929 (GRCm39) I561V possibly damaging Het
Ppp4r3c2 T C X: 88,796,299 (GRCm39) S44P probably damaging Het
Prkg2 A T 5: 99,142,514 (GRCm39) probably null Het
Prl8a6 T C 13: 27,617,084 (GRCm39) D201G probably benign Het
Ptprn2 T C 12: 117,175,466 (GRCm39) probably benign Het
Rdh1 G T 10: 127,598,993 (GRCm39) R158L probably damaging Het
Rhbdl3 T C 11: 80,214,175 (GRCm39) probably benign Het
Rims4 A T 2: 163,706,040 (GRCm39) V198E probably damaging Het
Ripk1 T C 13: 34,193,733 (GRCm39) S32P probably damaging Het
Rnf13 T A 3: 57,686,872 (GRCm39) N88K probably damaging Het
Rnf13 C A 3: 57,714,474 (GRCm39) L178I probably damaging Het
Slc17a5 G T 9: 78,445,584 (GRCm39) probably null Het
Sorcs1 A G 19: 50,624,891 (GRCm39) probably benign Het
Spata31e3 T A 13: 50,401,000 (GRCm39) Q442L probably benign Het
Srpk1 G A 17: 28,809,218 (GRCm39) probably benign Het
Stk10 A G 11: 32,564,708 (GRCm39) K840E probably damaging Het
Suco A G 1: 161,689,882 (GRCm39) probably benign Het
T2 G A 17: 8,636,007 (GRCm39) probably null Het
Tbc1d5 A G 17: 51,226,079 (GRCm39) S255P probably damaging Het
Tenm1 T C X: 41,625,058 (GRCm39) Y2254C probably damaging Het
Tex9 T A 9: 72,385,678 (GRCm39) K11* probably null Het
Tlr4 A G 4: 66,746,153 (GRCm39) I29V probably benign Het
Tmem255a A T X: 37,288,523 (GRCm39) V278D probably damaging Het
Trpc3 T C 3: 36,678,566 (GRCm39) I840V probably benign Het
Trpm3 G A 19: 22,878,435 (GRCm39) R622Q possibly damaging Het
Vmn1r214 T A 13: 23,219,464 (GRCm39) Y319* probably null Het
Vmn1r53 A T 6: 90,200,700 (GRCm39) V208E probably damaging Het
Vmn2r89 T C 14: 51,693,577 (GRCm39) F309S probably damaging Het
Xirp2 T A 2: 67,340,253 (GRCm39) F831L possibly damaging Het
Yes1 G T 5: 32,797,749 (GRCm39) E23* probably null Het
Zfp292 A T 4: 34,810,059 (GRCm39) M995K 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
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
R5568:Ptk6 UTSW 2 180,841,488 (GRCm39) missense possibly damaging 0.47
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
Posted On 2014-01-10