Incidental Mutation 'R9500:Ptk6'
ID 717472
Institutional Source Beutler Lab
Gene Symbol Ptk6
Ensembl Gene ENSMUSG00000038751
Gene Name PTK6 protein tyrosine kinase 6
Synonyms Tksk, Sik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9500 (G1)
Quality Score 173.009
Status Not validated
Chromosome 2
Chromosomal Location 180836917-180845408 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 180837566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 451 (V451A)
Ref Sequence ENSEMBL: ENSMUSP00000016511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016511]
AlphaFold Q64434
Predicted Effect probably benign
Transcript: ENSMUST00000016511
AA Change: V451A

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000016511
Gene: ENSMUSG00000038751
AA Change: V451A

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C T 7: 27,265,091 (GRCm39) T107I possibly damaging Het
Acyp1 T A 12: 85,325,786 (GRCm39) Y71F unknown Het
Akap11 A T 14: 78,748,543 (GRCm39) H1281Q Het
Amz1 T C 5: 140,737,975 (GRCm39) Y412H probably benign Het
Anxa10 C T 8: 62,545,545 (GRCm39) M62I probably benign Het
Arhgap25 T C 6: 87,469,184 (GRCm39) K109E probably damaging Het
Arhgap31 T A 16: 38,460,683 (GRCm39) E43D probably damaging Het
Atf6 T C 1: 170,574,708 (GRCm39) M577V probably damaging Het
Auts2 C A 5: 131,505,620 (GRCm39) A82S unknown Het
Bcl3 T C 7: 19,556,602 (GRCm39) M1V probably null Het
Cblb T C 16: 51,959,993 (GRCm39) probably null Het
Cc2d2b T C 19: 40,797,840 (GRCm39) V820A unknown Het
Clint1 T G 11: 45,797,194 (GRCm39) M425R possibly damaging Het
Clvs1 A G 4: 9,429,834 (GRCm39) D279G probably damaging Het
Colec11 A C 12: 28,645,302 (GRCm39) I123S probably damaging Het
Crebbp C T 16: 3,911,355 (GRCm39) E1460K probably damaging Het
Cyp2t4 G A 7: 26,854,717 (GRCm39) V66M possibly damaging Het
Dcaf8 C G 1: 171,999,909 (GRCm39) S22R possibly damaging Het
Dmxl1 T C 18: 50,011,271 (GRCm39) S1143P probably damaging Het
Dnhd1 T C 7: 105,353,709 (GRCm39) I2954T probably benign Het
Dop1b C T 16: 93,607,171 (GRCm39) P2275L probably benign Het
Drc3 A G 11: 60,261,334 (GRCm39) S162G probably benign Het
Ehd2 T C 7: 15,686,077 (GRCm39) I332V possibly damaging Het
Eml1 T A 12: 108,493,958 (GRCm39) D584E probably damaging Het
Eogt T C 6: 97,096,992 (GRCm39) T339A probably benign Het
Gbf1 A G 19: 46,258,389 (GRCm39) T949A probably benign Het
Gm11568 GCTGCTGCCAGCCCTGCTGCCAGCCC GCTGCTGCCAGCCCTGCTGCCAGCCCTGCTGCCAGCCC 11: 99,749,044 (GRCm39) probably benign Het
Gm11568 AGCCC AGCCCTGCTGCCTGCCC 11: 99,749,065 (GRCm39) probably benign Het
Gtpbp10 A T 5: 5,606,120 (GRCm39) C88* probably null Het
Ifit1bl2 A T 19: 34,596,508 (GRCm39) Y369* probably null Het
Igsf6 A G 7: 120,673,697 (GRCm39) L11P probably benign Het
Lars1 A T 18: 42,361,726 (GRCm39) I627N probably damaging Het
Lmo3 G T 6: 138,393,621 (GRCm39) Q11K Het
Mical2 A T 7: 111,936,054 (GRCm39) probably null Het
Mmp23 A G 4: 155,736,567 (GRCm39) V158A probably benign Het
Mmp24 T C 2: 155,654,195 (GRCm39) I391T probably damaging Het
Mrgpra3 A T 7: 47,239,400 (GRCm39) Y175* probably null Het
Mrpl23 G A 7: 142,089,859 (GRCm39) V65M probably damaging Het
Mup1 A G 4: 60,456,488 (GRCm39) L85S possibly damaging Het
Myo15b T C 11: 115,777,466 (GRCm39) L747S probably damaging Het
Nanog G T 6: 122,690,219 (GRCm39) W208L probably damaging Het
Nkg7 A G 7: 43,087,229 (GRCm39) Y112C probably damaging Het
Nup155 A G 15: 8,141,800 (GRCm39) D64G probably damaging Het
Or13p4 A G 4: 118,546,930 (GRCm39) S240P possibly damaging Het
Palm3 T C 8: 84,753,636 (GRCm39) S108P probably damaging Het
Pam T C 1: 97,772,325 (GRCm39) N579D probably benign Het
Pclo A G 5: 14,725,648 (GRCm39) E1502G unknown Het
Pde4dip A G 3: 97,795,896 (GRCm39) S31P unknown Het
Peg10 A T 6: 4,756,871 (GRCm39) K482N unknown Het
Phf19 A T 2: 34,801,708 (GRCm39) L34* probably null Het
Pla2g2c A T 4: 138,461,689 (GRCm39) K53* probably null Het
Pla2g4f T A 2: 120,142,713 (GRCm39) probably null Het
Polk G T 13: 96,630,349 (GRCm39) T404K probably damaging Het
Prkdc T A 16: 15,657,079 (GRCm39) V4058D possibly damaging Het
Prox2 T A 12: 85,134,851 (GRCm39) I477F probably damaging Het
Ptpn3 C T 4: 57,205,914 (GRCm39) E693K possibly damaging Het
Rag2 G A 2: 101,461,217 (GRCm39) G509D probably damaging Het
Rapgef2 A G 3: 78,974,093 (GRCm39) C1418R probably benign Het
Rev1 A T 1: 38,102,214 (GRCm39) Y716* probably null Het
Rsl1d1 T A 16: 11,011,385 (GRCm39) T440S possibly damaging Het
Samd14 T A 11: 94,914,372 (GRCm39) Y343* probably null Het
Sema3a A T 5: 13,615,854 (GRCm39) D426V possibly damaging Het
Slc7a11 G A 3: 50,382,201 (GRCm39) T182M probably benign Het
Slitrk5 A G 14: 111,916,726 (GRCm39) I117V possibly damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Stil A T 4: 114,878,716 (GRCm39) H384L possibly damaging Het
Suclg2 C A 6: 95,546,666 (GRCm39) R270L probably damaging Het
Taf5 A G 19: 47,065,771 (GRCm39) D492G probably damaging Het
Tes3-ps T A 13: 49,647,815 (GRCm39) Y230* probably null Het
Ttc41 G T 10: 86,565,726 (GRCm39) A427S probably benign Het
Ttn T C 2: 76,553,994 (GRCm39) D30903G probably damaging Het
Txndc16 A T 14: 45,406,798 (GRCm39) L219Q probably null Het
Usp34 T A 11: 23,331,337 (GRCm39) H1098Q probably damaging Het
Vmn2r52 T A 7: 9,905,281 (GRCm39) Y186F probably damaging Het
Zbtb41 T C 1: 139,359,806 (GRCm39) F512S probably damaging 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
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
X0062:Ptk6 UTSW 2 180,844,116 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAAAGGAGCCTCTTTACTCTTTCC -3'
(R):5'- TTCCAGGGATCAGTCTCCTAG -3'

Sequencing Primer
(F):5'- CCTTGACAAAACGCAGTATTTGAGG -3'
(R):5'- ATGTCCAATCATGAAACCTTCCTGAG -3'
Posted On 2022-07-18