Incidental Mutation 'R1690:Ptk2'
ID 191735
Institutional Source Beutler Lab
Gene Symbol Ptk2
Ensembl Gene ENSMUSG00000022607
Gene Name PTK2 protein tyrosine kinase 2
Synonyms FAK, FRNK, Fadk
MMRRC Submission 039723-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1690 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 73076951-73295129 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73134459 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 547 (I547F)
Ref Sequence ENSEMBL: ENSMUSP00000154242 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110036] [ENSMUST00000170939] [ENSMUST00000226988]
AlphaFold P34152
Predicted Effect probably damaging
Transcript: ENSMUST00000110036
AA Change: I547F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105663
Gene: ENSMUSG00000022607
AA Change: I547F

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 damaging
Transcript: ENSMUST00000170939
AA Change: I547F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126764
Gene: ENSMUSG00000022607
AA Change: I547F

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 noncoding transcript
Transcript: ENSMUST00000226742
Predicted Effect probably damaging
Transcript: ENSMUST00000226988
AA Change: I547F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227569
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228628
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228696
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.3%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A G 7: 28,610,950 (GRCm39) S263P probably damaging Het
Adcy10 A G 1: 165,347,494 (GRCm39) E403G probably damaging Het
Adgrg7 A T 16: 56,615,993 (GRCm39) V11E probably damaging Het
Arhgap35 A G 7: 16,297,206 (GRCm39) C620R probably damaging Het
Cfap43 A G 19: 47,739,505 (GRCm39) probably null Het
Cfap54 A G 10: 92,871,304 (GRCm39) S639P possibly damaging Het
Csf2rb T C 15: 78,232,844 (GRCm39) V717A probably benign Het
D17H6S53E A G 17: 35,346,188 (GRCm39) D33G possibly damaging Het
Dpf2 C T 19: 5,955,490 (GRCm39) R131Q probably damaging Het
Dtx3l C T 16: 35,753,638 (GRCm39) A323T probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fgf15 A G 7: 144,453,665 (GRCm39) S213G probably damaging Het
Fmn1 T A 2: 113,355,827 (GRCm39) F756Y unknown Het
Hnrnpk T A 13: 58,548,168 (GRCm39) T13S probably benign Het
Htr3b T A 9: 48,848,394 (GRCm39) M284L possibly damaging Het
Itgal T C 7: 126,901,289 (GRCm39) M225T possibly damaging Het
Lipi A G 16: 75,338,013 (GRCm39) Y454H probably damaging Het
Lrit3 T C 3: 129,594,394 (GRCm39) K61R probably damaging Het
Lta4h A G 10: 93,320,554 (GRCm39) D583G probably benign Het
Mettl17 T A 14: 52,128,918 (GRCm39) V396D probably damaging Het
Nlrc4 G A 17: 74,744,518 (GRCm39) R788* probably null Het
Or8k25 T A 2: 86,244,298 (GRCm39) I33F probably benign Het
Pepd G A 7: 34,730,782 (GRCm39) G278D probably damaging Het
Pramel23 T C 4: 143,424,693 (GRCm39) E250G probably benign Het
Prkcsh T A 9: 21,921,871 (GRCm39) D245E probably damaging Het
Prlr A T 15: 10,317,676 (GRCm39) D84V probably damaging Het
Pth2r C T 1: 65,411,462 (GRCm39) T333I probably benign Het
Rab11fip2 A T 19: 59,925,732 (GRCm39) S162T probably damaging Het
Rnf41 C A 10: 128,271,329 (GRCm39) Q80K possibly damaging Het
Scn7a T G 2: 66,506,287 (GRCm39) D1534A probably damaging Het
Septin12 A G 16: 4,806,378 (GRCm39) V261A probably damaging Het
Sh2d4a T C 8: 68,747,101 (GRCm39) S110P probably benign Het
Soat1 A T 1: 156,272,144 (GRCm39) S114T probably benign Het
Taar8a A G 10: 23,952,813 (GRCm39) Y139C probably damaging Het
Tcf12 A G 9: 71,777,354 (GRCm39) probably null Het
Tmem202 T A 9: 59,426,391 (GRCm39) R258S possibly damaging Het
Ttc39b A T 4: 83,145,414 (GRCm39) I604N probably damaging Het
Vit A G 17: 78,932,294 (GRCm39) D467G probably damaging Het
Zc3hc1 A G 6: 30,390,940 (GRCm39) V21A probably damaging Het
Zfp608 T A 18: 55,120,706 (GRCm39) I294F possibly damaging Het
Zfp825 T A 13: 74,628,781 (GRCm39) H227L probably benign Het
Other mutations in Ptk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00861:Ptk2 APN 15 73,134,396 (GRCm39) missense probably damaging 1.00
IGL00913:Ptk2 APN 15 73,167,238 (GRCm39) splice site probably benign
IGL01605:Ptk2 APN 15 73,136,188 (GRCm39) splice site probably benign
IGL01631:Ptk2 APN 15 73,088,220 (GRCm39) missense probably damaging 1.00
IGL01952:Ptk2 APN 15 73,101,780 (GRCm39) missense probably damaging 0.99
IGL01957:Ptk2 APN 15 73,114,322 (GRCm39) missense probably benign 0.05
IGL02441:Ptk2 APN 15 73,192,675 (GRCm39) missense probably benign 0.16
IGL02471:Ptk2 APN 15 73,170,036 (GRCm39) missense probably benign 0.41
IGL02621:Ptk2 APN 15 73,077,994 (GRCm39) missense probably damaging 0.99
IGL03198:Ptk2 APN 15 73,108,065 (GRCm39) missense probably damaging 1.00
Shooter UTSW 15 73,176,293 (GRCm39) missense possibly damaging 0.83
R0239:Ptk2 UTSW 15 73,215,132 (GRCm39) splice site probably null
R0239:Ptk2 UTSW 15 73,215,132 (GRCm39) splice site probably null
R1254:Ptk2 UTSW 15 73,101,819 (GRCm39) missense probably benign 0.01
R1291:Ptk2 UTSW 15 73,082,605 (GRCm39) missense probably damaging 1.00
R1307:Ptk2 UTSW 15 73,163,895 (GRCm39) missense probably benign 0.01
R1608:Ptk2 UTSW 15 73,134,424 (GRCm39) missense probably damaging 0.98
R1724:Ptk2 UTSW 15 73,114,255 (GRCm39) missense possibly damaging 0.58
R1725:Ptk2 UTSW 15 73,114,255 (GRCm39) missense possibly damaging 0.58
R1740:Ptk2 UTSW 15 73,114,255 (GRCm39) missense possibly damaging 0.58
R1741:Ptk2 UTSW 15 73,114,255 (GRCm39) missense possibly damaging 0.58
R1840:Ptk2 UTSW 15 73,082,733 (GRCm39) missense probably damaging 1.00
R1956:Ptk2 UTSW 15 73,087,832 (GRCm39) missense possibly damaging 0.49
R2022:Ptk2 UTSW 15 73,114,255 (GRCm39) missense possibly damaging 0.58
R2092:Ptk2 UTSW 15 73,108,040 (GRCm39) nonsense probably null
R2114:Ptk2 UTSW 15 73,114,255 (GRCm39) missense possibly damaging 0.58
R2115:Ptk2 UTSW 15 73,114,255 (GRCm39) missense possibly damaging 0.58
R2336:Ptk2 UTSW 15 73,137,965 (GRCm39) missense probably damaging 1.00
R2571:Ptk2 UTSW 15 73,103,768 (GRCm39) missense probably damaging 1.00
R4232:Ptk2 UTSW 15 73,181,698 (GRCm39) missense possibly damaging 0.61
R4245:Ptk2 UTSW 15 73,103,825 (GRCm39) missense probably benign 0.00
R4594:Ptk2 UTSW 15 73,078,045 (GRCm39) missense probably damaging 1.00
R4688:Ptk2 UTSW 15 73,078,074 (GRCm39) missense probably damaging 1.00
R4834:Ptk2 UTSW 15 73,087,945 (GRCm39) splice site probably null
R4847:Ptk2 UTSW 15 73,103,805 (GRCm39) missense probably benign
R5558:Ptk2 UTSW 15 73,176,294 (GRCm39) missense probably damaging 0.97
R5682:Ptk2 UTSW 15 73,134,413 (GRCm39) nonsense probably null
R5858:Ptk2 UTSW 15 73,192,944 (GRCm39) missense probably benign 0.12
R5951:Ptk2 UTSW 15 73,175,682 (GRCm39) missense possibly damaging 0.88
R6014:Ptk2 UTSW 15 73,176,293 (GRCm39) missense possibly damaging 0.83
R6027:Ptk2 UTSW 15 73,101,762 (GRCm39) missense probably damaging 1.00
R6082:Ptk2 UTSW 15 73,148,714 (GRCm39) missense probably damaging 1.00
R7025:Ptk2 UTSW 15 73,093,658 (GRCm39) missense possibly damaging 0.46
R7031:Ptk2 UTSW 15 73,093,658 (GRCm39) missense possibly damaging 0.46
R7032:Ptk2 UTSW 15 73,093,658 (GRCm39) missense possibly damaging 0.46
R7077:Ptk2 UTSW 15 73,093,658 (GRCm39) missense possibly damaging 0.46
R7078:Ptk2 UTSW 15 73,093,658 (GRCm39) missense possibly damaging 0.46
R7079:Ptk2 UTSW 15 73,093,658 (GRCm39) missense possibly damaging 0.46
R7090:Ptk2 UTSW 15 73,093,658 (GRCm39) missense possibly damaging 0.46
R7091:Ptk2 UTSW 15 73,093,658 (GRCm39) missense possibly damaging 0.46
R7092:Ptk2 UTSW 15 73,093,658 (GRCm39) missense possibly damaging 0.46
R7136:Ptk2 UTSW 15 73,093,658 (GRCm39) missense possibly damaging 0.46
R7137:Ptk2 UTSW 15 73,093,658 (GRCm39) missense possibly damaging 0.46
R7798:Ptk2 UTSW 15 73,167,224 (GRCm39) missense probably damaging 1.00
R8057:Ptk2 UTSW 15 73,170,048 (GRCm39) frame shift probably null
R8235:Ptk2 UTSW 15 73,215,140 (GRCm39) missense probably benign 0.00
R9106:Ptk2 UTSW 15 73,131,457 (GRCm39) missense possibly damaging 0.95
R9160:Ptk2 UTSW 15 73,087,933 (GRCm39) missense probably benign 0.01
R9301:Ptk2 UTSW 15 73,146,346 (GRCm39) missense probably damaging 1.00
R9448:Ptk2 UTSW 15 73,215,041 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- CCCAAGTATCAATGATTCGGAGCCC -3'
(R):5'- GCATTGAAATGGCCCCAAAGCAG -3'

Sequencing Primer
(F):5'- GTATCAATGATTCGGAGCCCATTTC -3'
(R):5'- AAGTATCACTGCTTGTCACTGTG -3'
Posted On 2014-05-14