Mutagenetix > Incidental Mutation

Incidental Mutation 'R4688:Ptk2'

353898

Institutional Source

Beutler Lab

Gene Symbol

Ptk2

Ensembl Gene

ENSMUSG00000022607

Gene Name

PTK2 protein tyrosine kinase 2

Synonyms

FAK, FRNK, Fadk

MMRRC Submission

041939-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4688 (G1)

Quality Score

186

Status

Not validated

Chromosome

Chromosomal Location

73076951-73295129 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73078074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 997 (L997F)

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: L994F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105663
Gene: ENSMUSG00000022607
AA Change: L994F

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: L997F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,139,680 (GRCm39)	N535S	probably damaging	Het
Abcc12	T	C	8: 87,275,323 (GRCm39)	S452G	possibly damaging	Het
Acacb	C	A	5: 114,342,824 (GRCm39)	Q897K	probably benign	Het
Acot3	C	A	12: 84,100,691 (GRCm39)	R145S	probably damaging	Het
Ankrd54	A	T	15: 78,938,782 (GRCm39)	Y247N	probably damaging	Het
Arl11	G	A	14: 61,548,546 (GRCm39)	V119I	probably benign	Het
Atosb	A	G	4: 43,034,663 (GRCm39)	F352S	probably damaging	Het
Atxn7	T	A	14: 14,089,288 (GRCm38)	M268K	probably benign	Het
Bms1	G	A	6: 118,369,667 (GRCm39)	R934C	probably damaging	Het
Brd10	A	G	19: 29,694,501 (GRCm39)	I1664T	probably benign	Het
Chrnb3	T	C	8: 27,884,147 (GRCm39)	S295P	probably damaging	Het
Cic	TCCCCC	TCCCCCCC	7: 24,991,095 (GRCm39)		probably null	Het
Cnr1	A	T	4: 33,944,571 (GRCm39)	I320F	probably benign	Het
Cntn4	C	T	6: 106,414,910 (GRCm39)	P147L	probably damaging	Het
Col24a1	G	A	3: 145,020,144 (GRCm39)	V172I	probably benign	Het
Col9a3	A	G	2: 180,249,424 (GRCm39)	D262G	probably damaging	Het
Csrnp2	A	G	15: 100,380,241 (GRCm39)	V350A	probably damaging	Het
D630045J12Rik	A	G	6: 38,173,592 (GRCm39)	V192A	possibly damaging	Het
Deptor	A	G	15: 55,072,177 (GRCm39)	M219V	probably benign	Het
Dmrtb1	A	T	4: 107,541,247 (GRCm39)	L38Q	probably damaging	Het
Dvl2	G	A	11: 69,898,344 (GRCm39)	R367Q	possibly damaging	Het
Dync1h1	T	G	12: 110,621,962 (GRCm39)	I3435S	probably damaging	Het
Ecpas	A	G	4: 58,840,757 (GRCm39)	V667A	probably damaging	Het
Eif2b3	A	G	4: 116,916,046 (GRCm39)	N218D	probably benign	Het
Epha2	A	G	4: 141,046,292 (GRCm39)	D497G	probably benign	Het
Epha7	G	T	4: 28,821,367 (GRCm39)	L177F	probably damaging	Het
Fam98c	C	T	7: 28,854,666 (GRCm39)	E147K	probably damaging	Het
Fbxo17	A	G	7: 28,431,979 (GRCm39)	T19A	probably benign	Het
Fbxo47	A	G	11: 97,747,049 (GRCm39)	F339S	probably damaging	Het
Frmd4a	G	T	2: 4,542,122 (GRCm39)	V234L	possibly damaging	Het
Gal3st2	A	G	1: 93,800,245 (GRCm39)	D32G	probably damaging	Het
Gpr135	T	C	12: 72,117,720 (GRCm39)	T16A	probably benign	Het
Gpr160	A	T	3: 30,950,835 (GRCm39)	R302S	probably benign	Het
Hrh2	C	A	13: 54,368,820 (GRCm39)	N265K	probably benign	Het
Htatip2	C	A	7: 49,423,171 (GRCm39)	A242E	probably damaging	Het
Igfbp7	T	C	5: 77,555,482 (GRCm39)	Y127C	probably damaging	Het
Igkv16-104	A	G	6: 68,402,878 (GRCm39)	Q57R	possibly damaging	Het
Ino80c	A	G	18: 24,241,903 (GRCm39)	S161P	probably damaging	Het
Itprid1	G	A	6: 55,944,132 (GRCm39)		probably null	Het
Kcnc1	A	G	7: 46,047,259 (GRCm39)	D53G	probably benign	Het
Khdc4	T	A	3: 88,593,824 (GRCm39)	M71K	probably damaging	Het
Lce1h	G	T	3: 92,670,874 (GRCm39)	R93S	unknown	Het
Lce1k	T	C	3: 92,713,951 (GRCm39)	S78G	unknown	Het
Lhcgr	T	A	17: 89,072,580 (GRCm39)	I156F	probably damaging	Het
Lpl	T	C	8: 69,352,077 (GRCm39)	Y343H	probably damaging	Het
Lrp6	G	T	6: 134,456,706 (GRCm39)	R853S	probably damaging	Het
Lrrc7	A	G	3: 157,854,242 (GRCm39)	V1322A	probably damaging	Het
Lrrc74a	C	T	12: 86,784,472 (GRCm39)	Q67*	probably null	Het
Megf6	A	T	4: 154,338,271 (GRCm39)	D447V	probably damaging	Het
Mep1a	T	C	17: 43,793,139 (GRCm39)	D355G	possibly damaging	Het
Ncoa1	T	C	12: 4,365,781 (GRCm39)	D95G	probably benign	Het
Npepl1	A	T	2: 173,956,235 (GRCm39)	I139F	possibly damaging	Het
Nrcam	T	C	12: 44,594,020 (GRCm39)	S262P	probably benign	Het
Nrp1	A	G	8: 129,229,047 (GRCm39)	N842D	probably benign	Het
Olfml3	A	G	3: 103,639,497 (GRCm39)		probably benign	Het
Or1x6	A	G	11: 50,939,815 (GRCm39)	R294G	probably damaging	Het
Or4b1d	T	A	2: 89,969,343 (GRCm39)	N47Y	possibly damaging	Het
Or6b6	T	A	7: 106,571,068 (GRCm39)	Y161F	probably benign	Het
Or6c204	G	A	10: 129,022,514 (GRCm39)	P259S	probably damaging	Het
Or6k8-ps1	T	C	1: 173,979,162 (GRCm39)	Y27H	possibly damaging	Het
Or8b3b	A	G	9: 38,584,659 (GRCm39)	L27P	probably damaging	Het
Or9i1b	A	T	19: 13,896,605 (GRCm39)	T74S	probably benign	Het
Pde2a	A	G	7: 101,152,041 (GRCm39)	N316S	probably benign	Het
Pde4dip	T	A	3: 97,750,993 (GRCm39)	R74*	probably null	Het
Pex13	A	T	11: 23,605,472 (GRCm39)	W253R	possibly damaging	Het
Piezo1	A	T	8: 123,215,278 (GRCm39)	W1444R	probably damaging	Het
Pla2g4e	T	C	2: 119,998,414 (GRCm39)	K843R	possibly damaging	Het
Plxna2	C	T	1: 194,326,753 (GRCm39)	P229L	probably damaging	Het
Prelid3b	G	T	2: 174,308,592 (GRCm39)	T131K	probably benign	Het
Pros1	T	C	16: 62,709,370 (GRCm39)		probably null	Het
Prrc2c	G	T	1: 162,525,256 (GRCm39)	P450Q	unknown	Het
Ptbp1	G	T	10: 79,692,342 (GRCm39)	V5F	possibly damaging	Het
Rims1	G	T	1: 22,518,528 (GRCm39)	S525*	probably null	Het
Sanbr	A	G	11: 23,543,449 (GRCm39)	S530P	probably benign	Het
Sh2b3	T	A	5: 121,956,697 (GRCm39)	D318V	probably benign	Het
Slc16a13	A	T	11: 70,111,101 (GRCm39)	I88N	probably damaging	Het
Slit2	T	A	5: 48,414,345 (GRCm39)		probably null	Het
Snx10	A	G	6: 51,556,918 (GRCm39)	N67S	probably damaging	Het
Stil	A	G	4: 114,898,505 (GRCm39)	Y1045C	probably damaging	Het
Stra6	A	G	9: 58,042,359 (GRCm39)		probably null	Het
Sympk	A	G	7: 18,788,335 (GRCm39)	S1254G	probably benign	Het
Syt15	G	T	14: 33,950,011 (GRCm39)	G377V	probably damaging	Het
Taar4	A	T	10: 23,836,731 (GRCm39)	I114F	probably damaging	Het
Tcaf3	G	A	6: 42,570,300 (GRCm39)		probably null	Het
Tgm7	A	T	2: 120,924,502 (GRCm39)	N558K	probably benign	Het
Tln2	T	G	9: 67,304,935 (GRCm39)	M1L	probably benign	Het
Trim50	C	T	5: 135,395,994 (GRCm39)	T314I	probably damaging	Het
Trp53rka	A	T	2: 165,333,312 (GRCm39)	Y192*	probably null	Het
Ube3b	T	C	5: 114,531,139 (GRCm39)	V211A	probably benign	Het
Ush2a	A	G	1: 188,132,138 (GRCm39)	S787G	probably benign	Het
Vmn1r189	T	C	13: 22,286,289 (GRCm39)	M183V	probably damaging	Het
Vps13d	G	T	4: 144,904,782 (GRCm39)	Q115K	probably benign	Het
Zfp358	A	G	8: 3,545,493 (GRCm39)	D25G	probably damaging	Het
Zfp521	T	G	18: 13,977,647 (GRCm39)	K922T	probably damaging	Het
Zfp521	T	A	18: 13,977,648 (GRCm39)	K922*	probably null	Het
Zfp68	T	A	5: 138,614,743 (GRCm39)	K4*	probably null	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
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
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'- CAGAAAGCCACGTTCAATGG -3'
(R):5'- CACATCCTGTTGAAATCGGTCC -3'

Sequencing Primer
(F):5'- ACGTTCAATGGCCAGGG -3'
(R):5'- CTGGGATTAAAGGCATTGTCCACC -3'

Posted On

2015-10-21