Incidental Mutation 'IGL02441:Ptk2'
ID293958
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptk2
Ensembl Gene ENSMUSG00000022607
Gene NamePTK2 protein tyrosine kinase 2
SynonymsFRNK, FAK, Fadk
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02441
Quality Score
Status
Chromosome15
Chromosomal Location73205102-73423280 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 73320826 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Leucine at position 181 (W181L)
Ref Sequence ENSEMBL: ENSMUSP00000155470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110036] [ENSMUST00000170939] [ENSMUST00000226466] [ENSMUST00000226791] [ENSMUST00000226988] [ENSMUST00000228180]
Predicted Effect probably benign
Transcript: ENSMUST00000110036
AA Change: W181L

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000105663
Gene: ENSMUSG00000022607
AA Change: W181L

DomainStartEndE-ValueType
B41 31 258 1.49e-39 SMART
Blast:B41 288 333 1e-19 BLAST
TyrKc 422 676 1.11e-130 SMART
low complexity region 686 698 N/A INTRINSIC
low complexity region 712 726 N/A INTRINSIC
low complexity region 863 883 N/A INTRINSIC
Pfam:Focal_AT 914 1046 5e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170939
AA Change: W181L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000126764
Gene: ENSMUSG00000022607
AA Change: W181L

DomainStartEndE-ValueType
B41 31 258 1.49e-39 SMART
Blast:B41 287 333 1e-19 BLAST
TyrKc 422 676 1.11e-130 SMART
low complexity region 686 698 N/A INTRINSIC
low complexity region 712 726 N/A INTRINSIC
low complexity region 863 883 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000226466
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226742
Predicted Effect probably benign
Transcript: ENSMUST00000226791
AA Change: W80L

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000226988
AA Change: W181L

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227569
Predicted Effect probably benign
Transcript: ENSMUST00000228180
AA Change: W181L

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228628
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoplasmic protein tyrosine kinase which is found concentrated in the focal adhesions that form between cells growing in the presence of extracellular matrix constituents. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Activation of this gene may be an important early step in cell growth and intracellular signal transduction pathways triggered in response to certain neural peptides or to cell interactions with the extracellular matrix. Several transcript variants encoding different isoforms have been found for this gene, but the full-length natures of only four of them have been determined. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a null allele die before or during organogenesis with growth retardation, abnormal embryonic and extra embryonic tissue development, and abnormal vascular development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg8 C T 7: 97,380,297 R179C probably benign Het
Als2 A G 1: 59,215,472 M242T probably damaging Het
Atad1 C T 19: 32,706,948 V17I probably benign Het
Bag4 A G 8: 25,768,108 V397A probably damaging Het
Brd7 A G 8: 88,343,590 V396A probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cdhr4 T A 9: 107,993,267 I123N possibly damaging Het
Cep68 A G 11: 20,239,186 F609L probably benign Het
Clec3b C A 9: 123,151,113 P24T possibly damaging Het
Ctsg T A 14: 56,102,412 T9S probably benign Het
Dalrd3 A T 9: 108,571,526 probably benign Het
Dock6 A T 9: 21,841,926 V286E possibly damaging Het
Dpep2 G A 8: 105,985,091 A568V probably benign Het
Dph5 A C 3: 115,926,741 Q192P possibly damaging Het
Eppin T A 2: 164,591,778 R37* probably null Het
Esyt1 A G 10: 128,512,424 L865P possibly damaging Het
Exoc6b A G 6: 85,005,008 L102P probably damaging Het
Foxo6 A G 4: 120,268,035 I521T possibly damaging Het
Guca1a A T 17: 47,394,653 probably benign Het
Hpx A G 7: 105,592,223 F327S probably damaging Het
Hspa12b A G 2: 131,138,595 M145V probably null Het
Hspa4 A T 11: 53,270,982 S448T probably benign Het
Kbtbd6 T C 14: 79,453,319 Y422H probably benign Het
Lama4 A T 10: 39,061,445 D677V probably benign Het
Ldb1 C T 19: 46,035,756 E111K probably damaging Het
Macf1 A G 4: 123,387,236 S3823P probably damaging Het
Man1a2 G A 3: 100,591,873 T415I probably benign Het
Map3k2 T C 18: 32,200,046 probably benign Het
Morn5 T A 2: 36,055,026 Y87* probably null Het
Mpp3 T C 11: 102,009,675 D326G probably benign Het
Mrgprx1 T C 7: 48,021,588 H137R probably benign Het
Nav2 C A 7: 49,452,512 P292T probably damaging Het
Nlrp2 C A 7: 5,335,567 probably null Het
Noxo1 G A 17: 24,699,056 S112N probably damaging Het
Nudt9 G T 5: 104,065,019 K319N probably benign Het
Olfr885 A T 9: 38,061,937 I206L probably benign Het
Osbpl7 C A 11: 97,067,702 Q728K probably damaging Het
Pcsk1 A T 13: 75,132,163 E702D probably benign Het
Piezo2 T C 18: 63,072,862 D1492G probably damaging Het
Plekhg1 A G 10: 3,958,103 K1007E possibly damaging Het
Ppp6r3 G A 19: 3,464,693 P141S probably benign Het
Prrt3 T C 6: 113,497,016 T354A probably damaging Het
Rif1 T A 2: 52,105,515 H915Q probably benign Het
Selenbp2 G T 3: 94,704,064 V361L probably benign Het
Slamf7 A G 1: 171,641,057 L89P probably damaging Het
Slc6a21 G A 7: 45,288,081 V599M probably damaging Het
Sltm G T 9: 70,587,185 S921I probably damaging Het
Smc4 C A 3: 69,006,211 A44E probably damaging Het
Tdrd5 A T 1: 156,259,943 probably benign Het
Tead2 T A 7: 45,217,421 I68N probably damaging Het
Tnks1bp1 T A 2: 85,071,799 S1680T probably damaging Het
Topbp1 T C 9: 103,320,239 V386A possibly damaging Het
Tpx2 C A 2: 152,882,287 P328T possibly damaging Het
Ttn T A 2: 76,745,988 I24854F probably damaging Het
Zbtb11 G A 16: 55,974,189 R43H possibly damaging Het
Zfp609 A G 9: 65,703,329 L784S possibly damaging Het
Zfp703 T C 8: 26,980,008 S567P probably damaging Het
Zfp750 A G 11: 121,513,629 I140T probably benign Het
Other mutations in Ptk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00861:Ptk2 APN 15 73262547 missense probably damaging 1.00
IGL00913:Ptk2 APN 15 73295389 splice site probably benign
IGL01605:Ptk2 APN 15 73264339 splice site probably benign
IGL01631:Ptk2 APN 15 73216371 missense probably damaging 1.00
IGL01952:Ptk2 APN 15 73229931 missense probably damaging 0.99
IGL01957:Ptk2 APN 15 73242473 missense probably benign 0.05
IGL02471:Ptk2 APN 15 73298187 missense probably benign 0.41
IGL02621:Ptk2 APN 15 73206145 missense probably damaging 0.99
IGL03198:Ptk2 APN 15 73236216 missense probably damaging 1.00
Shooter UTSW 15 73304444 missense possibly damaging 0.83
R0239:Ptk2 UTSW 15 73343283 unclassified probably null
R0239:Ptk2 UTSW 15 73343283 unclassified probably null
R1254:Ptk2 UTSW 15 73229970 missense probably benign 0.01
R1291:Ptk2 UTSW 15 73210756 missense probably damaging 1.00
R1307:Ptk2 UTSW 15 73292046 missense probably benign 0.01
R1608:Ptk2 UTSW 15 73262575 missense probably damaging 0.98
R1690:Ptk2 UTSW 15 73262610 missense probably damaging 1.00
R1724:Ptk2 UTSW 15 73242406 missense possibly damaging 0.58
R1725:Ptk2 UTSW 15 73242406 missense possibly damaging 0.58
R1740:Ptk2 UTSW 15 73242406 missense possibly damaging 0.58
R1741:Ptk2 UTSW 15 73242406 missense possibly damaging 0.58
R1840:Ptk2 UTSW 15 73210884 missense probably damaging 1.00
R1956:Ptk2 UTSW 15 73215983 missense possibly damaging 0.49
R2022:Ptk2 UTSW 15 73242406 missense possibly damaging 0.58
R2092:Ptk2 UTSW 15 73236191 nonsense probably null
R2114:Ptk2 UTSW 15 73242406 missense possibly damaging 0.58
R2115:Ptk2 UTSW 15 73242406 missense possibly damaging 0.58
R2336:Ptk2 UTSW 15 73266116 missense probably damaging 1.00
R2571:Ptk2 UTSW 15 73231919 missense probably damaging 1.00
R4232:Ptk2 UTSW 15 73309849 missense possibly damaging 0.61
R4245:Ptk2 UTSW 15 73231976 missense probably benign 0.00
R4594:Ptk2 UTSW 15 73206196 missense probably damaging 1.00
R4688:Ptk2 UTSW 15 73206225 missense probably damaging 1.00
R4834:Ptk2 UTSW 15 73216096 splice site probably null
R4847:Ptk2 UTSW 15 73231956 missense probably benign
R5558:Ptk2 UTSW 15 73304445 missense probably damaging 0.97
R5682:Ptk2 UTSW 15 73262564 nonsense probably null
R5858:Ptk2 UTSW 15 73321095 missense probably benign 0.12
R5951:Ptk2 UTSW 15 73303833 missense possibly damaging 0.88
R6014:Ptk2 UTSW 15 73304444 missense possibly damaging 0.83
R6027:Ptk2 UTSW 15 73229913 missense probably damaging 1.00
R6082:Ptk2 UTSW 15 73276865 missense probably damaging 1.00
Posted On2015-04-16