Incidental Mutation 'R2022:Ptk2'
ID 224212
Institutional Source Beutler Lab
Gene Symbol Ptk2
Ensembl Gene ENSMUSG00000022607
Gene Name PTK2 protein tyrosine kinase 2
Synonyms FAK, FRNK, Fadk
MMRRC Submission 040031-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2022 (G1)
Quality Score 222
Status Not validated
Chromosome 15
Chromosomal Location 73076951-73295129 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73114255 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 701 (V701A)
Ref Sequence ENSEMBL: ENSMUSP00000105663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110036] [ENSMUST00000170939] [ENSMUST00000226988] [ENSMUST00000227395] [ENSMUST00000227686]
AlphaFold P34152
Predicted Effect possibly damaging
Transcript: ENSMUST00000110036
AA Change: V701A

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105663
Gene: ENSMUSG00000022607
AA Change: V701A

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: V701A

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000126764
Gene: ENSMUSG00000022607
AA Change: V701A

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 benign
Transcript: ENSMUST00000226988
AA Change: V701A

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000227395
AA Change: V11A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227569
Predicted Effect probably benign
Transcript: ENSMUST00000227686
AA Change: V27A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228628
Meta Mutation Damage Score 0.0719 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l A T 8: 44,078,954 (GRCm39) C423* probably null Het
Akr1cl T A 1: 65,053,857 (GRCm39) Y271F probably benign Het
Asnsd1 A G 1: 53,386,386 (GRCm39) S414P possibly damaging Het
Atp12a T A 14: 56,602,739 (GRCm39) M1K probably null Het
Atp4b A C 8: 13,437,477 (GRCm39) N225K possibly damaging Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Cactin C T 10: 81,158,727 (GRCm39) T231I possibly damaging Het
Casp8ap2 T C 4: 32,644,560 (GRCm39) V1211A probably benign Het
Ccdc180 C A 4: 45,944,418 (GRCm39) H1423N probably benign Het
Cfap251 G A 5: 123,411,853 (GRCm39) G495D probably benign Het
Chd9 T C 8: 91,761,682 (GRCm39) Y2256H probably benign Het
Chst8 A G 7: 34,374,589 (GRCm39) Y417H possibly damaging Het
Clcn6 A G 4: 148,095,109 (GRCm39) probably null Het
Clec5a A T 6: 40,562,128 (GRCm39) V12E probably damaging Het
Crebbp C T 16: 3,903,683 (GRCm39) R1852H probably damaging Het
Cyp2c40 T A 19: 39,801,224 (GRCm39) probably benign Het
Dip2c T C 13: 9,601,836 (GRCm39) L265P probably damaging Het
Dnah3 A G 7: 119,550,465 (GRCm39) Y3274H probably damaging Het
Dnah6 T A 6: 73,004,405 (GRCm39) T3853S probably benign Het
Dnttip2 T C 3: 122,069,870 (GRCm39) S362P probably damaging Het
Dst G A 1: 34,205,372 (GRCm39) V1025I possibly damaging Het
Dym T C 18: 75,213,321 (GRCm39) V181A probably benign Het
Dynlt4 A G 4: 116,985,504 (GRCm39) E109G possibly damaging Het
Elk3 T A 10: 93,101,539 (GRCm39) I71F probably damaging Het
Epb41l4a C T 18: 34,054,893 (GRCm39) S65N probably benign Het
Erap1 T A 13: 74,814,627 (GRCm39) V451E probably benign Het
F830045P16Rik T A 2: 129,314,585 (GRCm39) I231F probably damaging Het
Fahd1 T C 17: 25,068,814 (GRCm39) I88V probably benign Het
Fam120b C T 17: 15,644,638 (GRCm39) T744I possibly damaging Het
Fam83f T G 15: 80,576,468 (GRCm39) V373G possibly damaging Het
Frem1 G T 4: 82,831,795 (GRCm39) T1988K probably benign Het
Gdap1l1 A T 2: 163,289,517 (GRCm39) T161S probably benign Het
Gm6309 C T 5: 146,105,121 (GRCm39) G264D probably benign Het
Hsd11b1 T C 1: 192,922,686 (GRCm39) T124A probably benign Het
Ino80b A G 6: 83,101,353 (GRCm39) M119T probably damaging Het
Kif3a G A 11: 53,461,408 (GRCm39) V17M probably damaging Het
Krt40 T A 11: 99,430,818 (GRCm39) E285D probably damaging Het
Lair1 C G 7: 4,066,063 (GRCm39) probably null Het
Lvrn A G 18: 46,999,503 (GRCm39) T290A possibly damaging Het
Macf1 G T 4: 123,366,523 (GRCm39) A2746E probably damaging Het
Matn4 A G 2: 164,242,573 (GRCm39) V175A probably damaging Het
Mok A T 12: 110,778,257 (GRCm39) D216E probably benign Het
Muc15 A T 2: 110,561,821 (GRCm39) T86S probably benign Het
Myo16 A G 8: 10,322,633 (GRCm39) K21R probably benign Het
Ncl A G 1: 86,284,677 (GRCm39) probably null Het
Nfrkb C T 9: 31,322,546 (GRCm39) T872I probably benign Het
Nhlrc2 A T 19: 56,585,710 (GRCm39) E648D probably benign Het
Nlrp9c A T 7: 26,084,221 (GRCm39) Y453N probably damaging Het
Notch4 T C 17: 34,806,502 (GRCm39) L1813P probably damaging Het
Nrg3 T A 14: 38,098,309 (GRCm39) D515V probably damaging Het
Nsd1 T C 13: 55,361,092 (GRCm39) V20A probably damaging Het
Opn4 T A 14: 34,319,028 (GRCm39) T186S probably benign Het
Or9k2 T C 10: 129,999,049 (GRCm39) M49V probably benign Het
Pcdh15 T G 10: 74,467,025 (GRCm39) S1684A possibly damaging Het
Phf11a T A 14: 59,532,363 (GRCm39) E24V possibly damaging Het
Pigg A T 5: 108,460,788 (GRCm39) probably benign Het
Plscr2 A G 9: 92,177,647 (GRCm39) D136G probably damaging Het
Ppp3r2 T C 4: 49,681,723 (GRCm39) I76V probably benign Het
Prdm6 A G 18: 53,598,031 (GRCm39) probably benign Het
Prex1 A G 2: 166,417,534 (GRCm39) W1188R possibly damaging Het
Prmt2 T A 10: 76,061,292 (GRCm39) R65* probably null Het
Prom1 G T 5: 44,187,068 (GRCm39) D396E probably benign Het
Ptcd3 C T 6: 71,862,537 (GRCm39) C466Y probably damaging Het
Rab36 T C 10: 74,888,306 (GRCm39) I250T probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Scn11a G T 9: 119,640,274 (GRCm39) A207E possibly damaging Het
Serpinb3d A G 1: 107,006,182 (GRCm39) V302A probably benign Het
Slc22a16 T C 10: 40,467,873 (GRCm39) Y469H probably damaging Het
Smo A G 6: 29,754,715 (GRCm39) N262D possibly damaging Het
Spata31e5 A T 1: 28,817,234 (GRCm39) V266D probably damaging Het
Sptan1 C T 2: 29,897,573 (GRCm39) A1212V probably damaging Het
Ssr1 C T 13: 38,173,525 (GRCm39) A79T probably damaging Het
Tiam1 T A 16: 89,674,075 (GRCm39) T479S probably benign Het
Tm9sf3 A G 19: 41,227,231 (GRCm39) F280S probably damaging Het
Tmem72 T C 6: 116,673,800 (GRCm39) H106R probably damaging Het
Tnr A G 1: 159,679,592 (GRCm39) I189V probably benign Het
Tpbpa T A 13: 61,088,036 (GRCm39) N50I probably benign Het
Tshz1 T A 18: 84,031,987 (GRCm39) Y807F probably damaging Het
Tspo2 C T 17: 48,755,750 (GRCm39) A131T possibly damaging Het
Usp16 T C 16: 87,270,014 (GRCm39) L322P probably damaging Het
Vmn1r185 A G 7: 26,310,935 (GRCm39) V190A possibly damaging Het
Vmn1r34 T C 6: 66,614,385 (GRCm39) K118E possibly damaging Het
Vmn1r68 A G 7: 10,261,918 (GRCm39) L60P probably damaging Het
Vmn2r-ps158 A G 7: 42,673,454 (GRCm39) N171D probably benign Het
Vps51 T C 19: 6,121,612 (GRCm39) E162G probably benign Het
Yy1 CGGG CGGGGGG 12: 108,759,916 (GRCm39) probably benign Het
Zdhhc4 C T 5: 143,307,538 (GRCm39) R161H probably damaging Het
Zfp456 A T 13: 67,514,616 (GRCm39) C363* probably null Het
Zfp541 T A 7: 15,816,110 (GRCm39) S866T probably 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
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
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'- ATCGGGCAATCTACAGACAG -3'
(R):5'- TTGAGTGAGGCTAGAAACCTGTG -3'

Sequencing Primer
(F):5'- CAGGAGGGTGACTACGTTACAGTTC -3'
(R):5'- GGCTAGAAACCTGTGTTATATAGGG -3'
Posted On 2014-08-25