Incidental Mutation 'R1840:Ptk2'
ID 205760
Institutional Source Beutler Lab
Gene Symbol Ptk2
Ensembl Gene ENSMUSG00000022607
Gene Name PTK2 protein tyrosine kinase 2
Synonyms FAK, FRNK, Fadk
MMRRC Submission 039866-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1840 (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 C at 73082733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 908 (E908G)
Ref Sequence ENSEMBL: ENSMUSP00000105663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110036] [ENSMUST00000226988]
AlphaFold P34152
Predicted Effect probably damaging
Transcript: ENSMUST00000110036
AA Change: E908G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105663
Gene: ENSMUSG00000022607
AA Change: E908G

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 noncoding transcript
Transcript: ENSMUST00000226454
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226742
Predicted Effect probably damaging
Transcript: ENSMUST00000226988
AA Change: E911G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227569
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228628
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.2%
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: 118 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510009E07Rik T A 16: 21,472,236 (GRCm39) M85L probably benign Het
Aatk T G 11: 119,904,558 (GRCm39) D206A probably damaging Het
Agap3 A G 5: 24,705,229 (GRCm39) D719G probably damaging Het
Agrn G A 4: 156,251,872 (GRCm39) R1797C probably damaging Het
Ascc3 T A 10: 50,566,257 (GRCm39) M734K probably benign Het
Asph T A 4: 9,601,340 (GRCm39) M136L possibly damaging Het
Atm A T 9: 53,367,830 (GRCm39) V2431E probably damaging Het
Atp2b1 A G 10: 98,858,791 (GRCm39) H1158R probably benign Het
Atxn7l1 A G 12: 33,421,032 (GRCm39) probably null Het
BC024139 G T 15: 76,004,842 (GRCm39) S611R probably benign Het
Becn1 C T 11: 101,186,392 (GRCm39) G105S probably damaging Het
Bud13 A G 9: 46,197,706 (GRCm39) E70G probably damaging Het
Cacul1 A T 19: 60,522,688 (GRCm39) L282* probably null Het
Catspere2 A G 1: 177,830,581 (GRCm39) D30G possibly damaging Het
Ccar1 T A 10: 62,599,289 (GRCm39) K614M probably damaging Het
Cd96 T C 16: 45,919,455 (GRCm39) T189A probably benign Het
Cdh5 C A 8: 104,853,248 (GRCm39) Y189* probably null Het
Chka A G 19: 3,936,460 (GRCm39) N284S probably benign Het
Cntn6 A T 6: 104,751,441 (GRCm39) I366F probably damaging Het
Csmd3 C T 15: 47,470,560 (GRCm39) G3372E probably damaging Het
Cyp4f16 T C 17: 32,761,980 (GRCm39) probably null Het
Dcaf6 A G 1: 165,227,317 (GRCm39) V270A probably damaging Het
Ddx60 T A 8: 62,422,587 (GRCm39) I608N probably damaging Het
Dnah9 A T 11: 65,725,024 (GRCm39) C1849* probably null Het
Eci3 C A 13: 35,144,024 (GRCm39) V34L probably benign Het
Eif1ad9 T C 12: 88,296,181 (GRCm39) V53A probably benign Het
Entrep2 C A 7: 64,408,943 (GRCm39) V484L probably benign Het
Epha1 C T 6: 42,340,522 (GRCm39) R583H probably damaging Het
Erbin A T 13: 103,971,455 (GRCm39) N720K probably benign Het
Eya1 T A 1: 14,299,728 (GRCm39) R346* probably null Het
Fhdc1 G A 3: 84,353,128 (GRCm39) T699I possibly damaging Het
Flvcr2 T C 12: 85,849,995 (GRCm39) V427A possibly damaging Het
Frey1 T C 2: 92,213,554 (GRCm39) S36P probably benign Het
Fzd9 T A 5: 135,278,425 (GRCm39) T487S probably benign Het
Gas2l3 T C 10: 89,258,113 (GRCm39) Y160C possibly damaging Het
Gm10269 T C 18: 20,815,866 (GRCm39) K52R probably damaging Het
Gm8674 A T 13: 50,055,801 (GRCm39) noncoding transcript Het
Gpr61 A G 3: 108,057,797 (GRCm39) V288A possibly damaging Het
Gramd4 T C 15: 86,014,393 (GRCm39) probably null Het
Gtpbp4 A G 13: 9,029,500 (GRCm39) L403P probably benign Het
H6pd A T 4: 150,066,507 (GRCm39) D626E possibly damaging Het
Herc6 T A 6: 57,635,091 (GRCm39) L769* probably null Het
Hes5 A G 4: 155,045,711 (GRCm39) K58R probably damaging Het
Heyl A G 4: 123,135,183 (GRCm39) I59V probably damaging Het
Hpca A G 4: 129,012,393 (GRCm39) F48L probably damaging Het
Ice1 C T 13: 70,754,337 (GRCm39) R583Q probably benign Het
Ints2 C T 11: 86,123,911 (GRCm39) G626R probably damaging Het
Kansl1l T A 1: 66,817,191 (GRCm39) I390F probably damaging Het
Kat5 C T 19: 5,659,266 (GRCm39) V95M possibly damaging Het
Kcnh4 T A 11: 100,636,167 (GRCm39) I827F possibly damaging Het
Kif1b C T 4: 149,272,589 (GRCm39) R138Q probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lats1 T A 10: 7,586,703 (GRCm39) L955* probably null Het
Ldlrad2 A C 4: 137,299,495 (GRCm39) C110G possibly damaging Het
Lgi3 G A 14: 70,772,216 (GRCm39) probably null Het
Lingo1 A G 9: 56,527,842 (GRCm39) M249T probably benign Het
Lrig3 A T 10: 125,849,258 (GRCm39) R993* probably null Het
Lsm14b T A 2: 179,668,521 (GRCm39) I74N probably damaging Het
Lyplal1 T A 1: 185,832,414 (GRCm39) I114F probably damaging Het
Mmp15 A G 8: 96,092,048 (GRCm39) Y86C probably damaging Het
Myh2 A G 11: 67,077,313 (GRCm39) E816G probably benign Het
Myo5c A G 9: 75,157,017 (GRCm39) N151S probably damaging Het
Nckap1 T A 2: 80,332,594 (GRCm39) E1082V possibly damaging Het
Nrg4 A C 9: 55,189,890 (GRCm39) probably benign Het
Nrp2 T C 1: 62,777,498 (GRCm39) L101P probably damaging Het
Or14j5 A T 17: 38,161,639 (GRCm39) D52V probably damaging Het
Or2at1 A T 7: 99,416,803 (GRCm39) T145S probably benign Het
Or4p19 T C 2: 88,242,411 (GRCm39) D197G probably benign Het
Or51q1c A G 7: 103,653,324 (GRCm39) I281V probably benign Het
Or5ak22 G A 2: 85,230,512 (GRCm39) R122C probably benign Het
Parp14 T A 16: 35,683,819 (GRCm39) E169V probably damaging Het
Pcolce2 A T 9: 95,552,256 (GRCm39) N130Y probably benign Het
Pcolce2 G A 9: 95,552,170 (GRCm39) R101H probably damaging Het
Plscr1 A T 9: 92,140,127 (GRCm39) S5C unknown Het
Plxdc2 T C 2: 16,674,667 (GRCm39) V338A probably benign Het
Psg23 T A 7: 18,344,363 (GRCm39) N364I possibly damaging Het
Psmg4 A G 13: 34,362,039 (GRCm39) E109G probably damaging Het
Ptpn14 G A 1: 189,519,048 (GRCm39) R26H probably damaging Het
Ranbp2 T A 10: 58,314,588 (GRCm39) N1769K probably benign Het
Rbm14 C T 19: 4,851,823 (GRCm39) probably benign Het
Rgs7 A T 1: 174,980,714 (GRCm39) D103E probably damaging Het
Rmnd5a G A 6: 71,375,439 (GRCm39) L80F probably benign Het
Rock2 T A 12: 16,978,990 (GRCm39) D93E probably benign Het
Rps6ka6 A G X: 110,330,629 (GRCm39) I246T possibly damaging Het
Rubcn T C 16: 32,646,542 (GRCm39) M803V possibly damaging Het
Ryr3 T C 2: 112,581,165 (GRCm39) Y2889C probably damaging Het
Sall2 T C 14: 52,551,182 (GRCm39) N671S probably damaging Het
Selplg T C 5: 113,957,905 (GRCm39) T134A possibly damaging Het
Sez6 C A 11: 77,844,543 (GRCm39) T122N possibly damaging Het
Slc9b1 T A 3: 135,063,229 (GRCm39) D4E unknown Het
Smim18 A G 8: 34,232,376 (GRCm39) M81T probably benign Het
Snap91 A T 9: 86,697,518 (GRCm39) H281Q probably damaging Het
Sparc C A 11: 55,286,692 (GRCm39) C302F probably damaging Het
Spg11 A G 2: 121,932,237 (GRCm39) L535P probably damaging Het
Spsb1 G A 4: 149,991,088 (GRCm39) T160I probably damaging Het
Stra6 A G 9: 58,047,813 (GRCm39) N128S probably benign Het
Strc T C 2: 121,209,777 (GRCm39) E182G probably damaging Het
Sult2a6 A G 7: 13,988,754 (GRCm39) M2T probably benign Het
Sv2c T C 13: 96,118,352 (GRCm39) N499S probably benign Het
Szt2 A T 4: 118,222,854 (GRCm39) probably benign Het
Tbx20 A T 9: 24,636,972 (GRCm39) S372T probably benign Het
Tcp11l2 T A 10: 84,440,463 (GRCm39) S289T probably damaging Het
Tdrd1 A G 19: 56,830,744 (GRCm39) E259G probably damaging Het
Thsd7a T A 6: 12,330,973 (GRCm39) I1390L probably benign Het
Tln2 G A 9: 67,249,325 (GRCm39) R921W probably damaging Het
Tmem126a C A 7: 90,102,092 (GRCm39) G36* probably null Het
Tmem245 C T 4: 56,903,947 (GRCm39) V606I probably benign Het
Trpm6 A G 19: 18,843,631 (GRCm39) D1665G probably benign Het
Ubac2 T G 14: 122,231,674 (GRCm39) V200G probably benign Het
Ubr5 G A 15: 37,981,161 (GRCm39) A2372V possibly damaging Het
Ugcg C T 4: 59,219,517 (GRCm39) P285S probably damaging Het
Vmn1r9 T C 6: 57,048,522 (GRCm39) V199A probably damaging Het
Vmn2r118 T A 17: 55,917,406 (GRCm39) K369* probably null Het
Xpnpep3 G T 15: 81,311,554 (GRCm39) A87S probably benign Het
Zc3h7a C T 16: 10,978,890 (GRCm39) R95H probably damaging Het
Zdhhc11 A G 13: 74,122,771 (GRCm39) N169S probably damaging Het
Zfp62 T A 11: 49,107,215 (GRCm39) D435E probably damaging Het
Zfyve16 T C 13: 92,648,033 (GRCm39) D1007G possibly damaging 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
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'- TCACTGGGAGAAGAAGCCATCC -3'
(R):5'- GACATCACTGCCTTGTGTGTTG -3'

Sequencing Primer
(F):5'- CCCACCGTACACAGTGATCG -3'
(R):5'- GGTGACTTGCTTTATTGTCGTCCTC -3'
Posted On 2014-06-23