Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01957:Ptk2'

181116

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 #

IGL01957

Quality Score

Status

Chromosome

Chromosomal Location

73076951-73295129 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73114322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 679 (I679V)

Ref Sequence

ENSEMBL: ENSMUSP00000126764 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110036] [ENSMUST00000170939] [ENSMUST00000226988] [ENSMUST00000227395] [ENSMUST00000227686]

AlphaFold

P34152

Predicted Effect

probably benign
Transcript: ENSMUST00000110036
AA Change: I679V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105663
Gene: ENSMUSG00000022607
AA Change: I679V

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

probably benign
Transcript: ENSMUST00000170939
AA Change: I679V

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000126764
Gene: ENSMUSG00000022607
AA Change: I679V

Domain	Start	End	E-Value	Type
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: I679V

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000227395

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227569

Predicted Effect

probably benign
Transcript: ENSMUST00000227686
AA Change: I5V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228628

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030469F06Rik	T	C	12: 31,235,042 (GRCm39)		noncoding transcript	Het
Cops3	A	G	11: 59,712,217 (GRCm39)		probably benign	Het
Cyth2	A	T	7: 45,457,805 (GRCm39)	Y304N	probably benign	Het
Dhx8	A	G	11: 101,645,652 (GRCm39)	N837S	possibly damaging	Het
Evpl	A	G	11: 116,114,048 (GRCm39)	L1214P	probably damaging	Het
Gm94	A	G	18: 43,917,746 (GRCm39)	S40P	probably damaging	Het
Gpm6a	A	T	8: 55,503,212 (GRCm39)	M154L	probably benign	Het
Ipo13	A	G	4: 117,761,078 (GRCm39)	S547P	probably damaging	Het
Mfsd14b	A	C	13: 65,234,907 (GRCm39)	V90G	possibly damaging	Het
Mfsd4b4	A	T	10: 39,768,025 (GRCm39)	M356K	probably damaging	Het
Msh6	T	G	17: 88,292,519 (GRCm39)	F425V	possibly damaging	Het
Or4k15c	T	C	14: 50,321,737 (GRCm39)	T134A	probably benign	Het
Or52m2	A	T	7: 102,263,546 (GRCm39)	L217I	probably damaging	Het
Or6c215	A	G	10: 129,638,119 (GRCm39)	Y92H	probably damaging	Het
Rtel1	T	C	2: 180,991,106 (GRCm39)		probably benign	Het
Sema3d	T	A	5: 12,613,282 (GRCm39)	V453E	probably damaging	Het
Spata31e2	C	T	1: 26,724,340 (GRCm39)	C280Y	probably damaging	Het
Syk	C	A	13: 52,785,776 (GRCm39)	D327E	probably benign	Het
Triobp	G	A	15: 78,856,847 (GRCm39)		probably null	Het
Tubgcp5	G	A	7: 55,468,505 (GRCm39)	E667K	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r76	G	T	7: 85,877,925 (GRCm39)	H491N	probably benign	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
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
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

2014-05-07