Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02621:Ptk2'

300869

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptk2

Ensembl Gene

ENSMUSG00000022607

Gene Name

PTK2 protein tyrosine kinase 2

Synonyms

FAK, FRNK, Fadk

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02621

Quality Score

Status

Chromosome

Chromosomal Location

73076951-73295129 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 73077994 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 1024 (L1024R)

Ref Sequence

ENSEMBL: ENSMUSP00000154242 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110036] [ENSMUST00000226988]

AlphaFold

P34152

Predicted Effect

probably damaging
Transcript: ENSMUST00000110036
AA Change: L1021R

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105663
Gene: ENSMUSG00000022607
AA Change: L1021R

Domain	Start	End	E-Value	Type
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

probably damaging
Transcript: ENSMUST00000226988
AA Change: L1024R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002L01Rik	C	A	12: 3,476,688 (GRCm39)		probably benign	Het
2210408I21Rik	T	C	13: 77,408,150 (GRCm39)	I159T	possibly damaging	Het
Agpat3	T	A	10: 78,120,900 (GRCm39)	I93F	probably damaging	Het
Armc8	T	C	9: 99,409,122 (GRCm39)		probably benign	Het
Atr	G	A	9: 95,790,453 (GRCm39)	A1598T	probably benign	Het
Bltp1	T	A	3: 37,095,633 (GRCm39)		probably benign	Het
Clk1	T	C	1: 58,453,614 (GRCm39)	D324G	probably damaging	Het
Cntnap4	A	T	8: 113,537,355 (GRCm39)	D742V	probably damaging	Het
Esrrb	A	G	12: 86,468,735 (GRCm39)	N16S	probably benign	Het
Grm1	A	T	10: 10,564,755 (GRCm39)	Y1184*	probably null	Het
Hint1	G	T	11: 54,761,011 (GRCm39)		probably benign	Het
Itch	A	T	2: 155,014,504 (GRCm39)		probably null	Het
Lmod3	T	C	6: 97,215,796 (GRCm39)		probably benign	Het
Map3k4	C	A	17: 12,482,900 (GRCm39)	A606S	probably damaging	Het
Mapk4	A	T	18: 74,103,346 (GRCm39)	S54R	probably damaging	Het
Megf11	A	G	9: 64,601,214 (GRCm39)	D807G	probably benign	Het
Mgat5	A	G	1: 127,325,326 (GRCm39)	T398A	possibly damaging	Het
Nme8	T	G	13: 19,859,818 (GRCm39)	K28N	probably damaging	Het
Pamr1	A	G	2: 102,464,688 (GRCm39)	N279S	probably benign	Het
Pcca	A	T	14: 122,922,391 (GRCm39)	D384V	probably damaging	Het
Prkag1	A	T	15: 98,711,909 (GRCm39)	I239N	probably damaging	Het
Psme4	A	G	11: 30,798,131 (GRCm39)	T1375A	probably benign	Het
Rere	G	A	4: 150,698,269 (GRCm39)		probably benign	Het
Scn2a	A	G	2: 65,579,223 (GRCm39)		probably benign	Het
Sema5a	T	A	15: 32,538,802 (GRCm39)		probably benign	Het
Shoc1	A	T	4: 59,062,668 (GRCm39)	W863R	probably damaging	Het
Slc9a1	T	A	4: 133,097,879 (GRCm39)	W9R	probably benign	Het
Slco1a5	T	A	6: 142,187,741 (GRCm39)	M533L	probably benign	Het
Ttll4	T	A	1: 74,726,643 (GRCm39)	S720T	probably damaging	Het
Vmn1r168	A	T	7: 23,240,780 (GRCm39)	R212S	probably damaging	Het
Vmn2r114	T	C	17: 23,529,494 (GRCm39)	I203V	probably damaging	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het

Other mutations in Ptk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2015-04-16