Incidental Mutation 'R2092:Ptk2'
ID 231868
Institutional Source Beutler Lab
Gene Symbol Ptk2
Ensembl Gene ENSMUSG00000022607
Gene Name PTK2 protein tyrosine kinase 2
Synonyms FAK, FRNK, Fadk
MMRRC Submission 040097-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2092 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 73076951-73295129 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 73108040 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 56 (Y56*)
Ref Sequence ENSEMBL: ENSMUSP00000153821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110036] [ENSMUST00000170939] [ENSMUST00000226988] [ENSMUST00000227395] [ENSMUST00000227686]
AlphaFold P34152
Predicted Effect probably null
Transcript: ENSMUST00000110036
AA Change: Y730*
SMART Domains Protein: ENSMUSP00000105663
Gene: ENSMUSG00000022607
AA Change: Y730*

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 null
Transcript: ENSMUST00000170939
AA Change: Y730*
SMART Domains Protein: ENSMUSP00000126764
Gene: ENSMUSG00000022607
AA Change: Y730*

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 null
Transcript: ENSMUST00000226988
AA Change: Y730*
Predicted Effect probably null
Transcript: ENSMUST00000227395
AA Change: Y40*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227569
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228628
Predicted Effect probably null
Transcript: ENSMUST00000227686
AA Change: Y56*
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,651,896 (GRCm39) C1321* probably null Het
Abca8b A G 11: 109,857,534 (GRCm39) F673L possibly damaging Het
Adam19 T G 11: 45,951,731 (GRCm39) probably null Het
AI987944 T C 7: 41,024,041 (GRCm39) T313A possibly damaging Het
Akap13 A T 7: 75,260,318 (GRCm39) I178F probably benign Het
Alb G GA 5: 90,611,842 (GRCm39) probably null Het
Bod1l A G 5: 41,988,860 (GRCm39) S416P probably damaging Het
Casr A T 16: 36,330,405 (GRCm39) Y310N possibly damaging Het
Cela3a T C 4: 137,131,737 (GRCm39) N152S probably benign Het
Chrdl2 T A 7: 99,670,184 (GRCm39) C102* probably null Het
Col4a4 G A 1: 82,476,667 (GRCm39) S554L unknown Het
Col6a4 T C 9: 105,937,530 (GRCm39) K1392R probably damaging Het
Dab1 T G 4: 104,535,974 (GRCm39) Y128D probably damaging Het
Dars1 A T 1: 128,301,755 (GRCm39) M293K probably damaging Het
Dlec1 T C 9: 118,950,912 (GRCm39) F493L possibly damaging Het
Dmbt1 G T 7: 130,651,748 (GRCm39) W330L probably damaging Het
Dnah11 A T 12: 117,976,451 (GRCm39) M831K possibly damaging Het
Dock7 T C 4: 98,897,545 (GRCm39) N715S possibly damaging Het
Edc4 T A 8: 106,614,160 (GRCm39) L12Q probably damaging Het
Edem2 T C 2: 155,550,969 (GRCm39) M333V probably benign Het
Fpr-rs4 CAGGAA CA 17: 18,242,596 (GRCm39) probably null Het
Fto C A 8: 92,136,315 (GRCm39) Y194* probably null Het
Gnptab T G 10: 88,276,167 (GRCm39) Y1151* probably null Het
Grm1 A G 10: 10,564,969 (GRCm39) L1113P probably benign Het
Hnrnpa0 T C 13: 58,275,614 (GRCm39) K172E probably damaging Het
Ifitm1 A G 7: 140,549,427 (GRCm39) D70G probably damaging Het
Irx4 C A 13: 73,413,605 (GRCm39) T25K probably damaging Het
Kif22 C T 7: 126,632,802 (GRCm39) D195N probably damaging Het
Lrp2 C T 2: 69,366,365 (GRCm39) D245N probably benign Het
Lyz1 C T 10: 117,124,504 (GRCm39) R144Q probably benign Het
Macf1 T A 4: 123,276,971 (GRCm39) T6055S probably damaging Het
Mrgpra2b C T 7: 47,113,908 (GRCm39) V249I probably benign Het
Myh9 G A 15: 77,648,550 (GRCm39) Q80* probably null Het
Myo6 G T 9: 80,152,964 (GRCm39) R199L probably damaging Het
Naglu G A 11: 100,967,546 (GRCm39) V499I possibly damaging Het
Nfkbie T C 17: 45,869,465 (GRCm39) F140S probably benign Het
Or4p8 A G 2: 88,727,611 (GRCm39) F110S probably damaging Het
Or52ab7 G A 7: 102,978,316 (GRCm39) V208M probably damaging Het
Or52z1 A T 7: 103,437,279 (GRCm39) F68L possibly damaging Het
Or5b102 T A 19: 13,041,166 (GRCm39) Y130* probably null Het
Or5p81 CAAATA CA 7: 108,266,869 (GRCm39) probably null Het
Or8g21 A T 9: 38,906,485 (GRCm39) L82Q probably damaging Het
Otop1 A T 5: 38,457,110 (GRCm39) I290F probably damaging Het
P2rx2 C T 5: 110,489,007 (GRCm39) D203N probably damaging Het
Pcdhb10 T A 18: 37,547,240 (GRCm39) I772N probably benign Het
Pnliprp1 A G 19: 58,729,616 (GRCm39) H423R probably benign Het
Rapgef3 T C 15: 97,658,604 (GRCm39) D134G probably damaging Het
Scaf11 A C 15: 96,313,708 (GRCm39) S1358A probably damaging Het
Scn9a T C 2: 66,363,720 (GRCm39) M844V probably damaging Het
Sh3tc1 T C 5: 35,858,002 (GRCm39) E1121G probably damaging Het
Slc25a15 T C 8: 22,870,950 (GRCm39) T176A probably damaging Het
Slc29a4 T A 5: 142,704,610 (GRCm39) I384N probably damaging Het
Slc40a1 A T 1: 45,948,614 (GRCm39) D555E probably benign Het
Smc5 T C 19: 23,216,263 (GRCm39) I446V probably benign Het
St6gal2 T C 17: 55,817,267 (GRCm39) Y477H probably damaging Het
Syngr1 A T 15: 80,000,141 (GRCm39) Q84L possibly damaging Het
Tedc1 T C 12: 113,121,340 (GRCm39) L187P probably damaging Het
Tg A G 15: 66,721,456 (GRCm39) I322V probably null Het
Thap12 T C 7: 98,365,656 (GRCm39) V608A possibly damaging Het
Tmbim6 T C 15: 99,299,949 (GRCm39) S22P probably damaging Het
Ttc3 C T 16: 94,243,691 (GRCm39) P1232S probably benign Het
Upk3a A G 15: 84,902,286 (GRCm39) T38A probably damaging Het
Utrn A T 10: 12,554,442 (GRCm39) M1549K probably benign Het
Vmn1r176 C T 7: 23,534,578 (GRCm39) D192N probably damaging Het
Vmn1r198 A G 13: 22,538,885 (GRCm39) T35A possibly damaging Het
Xkr7 C T 2: 152,895,983 (GRCm39) S279L probably damaging Het
Zer1 G A 2: 29,998,286 (GRCm39) L342F probably damaging Het
Zfp641 G T 15: 98,191,593 (GRCm39) T31N probably benign Het
Zfp74 G A 7: 29,653,349 (GRCm39) 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
R1690:Ptk2 UTSW 15 73,134,459 (GRCm39) missense probably damaging 1.00
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
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'- TAAGGGCAAGATAACCATCTCC -3'
(R):5'- AGTTGTTGAAGACTCTTTGCTGAAG -3'

Sequencing Primer
(F):5'- GACCAAGGTGACTAGTTTCTTAGC -3'
(R):5'- GAAGACTCTTTGCTGAAGTATCTTAC -3'
Posted On 2014-09-18