Mutagenetix > Incidental Mutation

Incidental Mutation 'R1956:Ptk2'

217844

Institutional Source

Beutler Lab

Gene Symbol

Ptk2

Ensembl Gene

ENSMUSG00000022607

Gene Name

PTK2 protein tyrosine kinase 2

Synonyms

FRNK, FAK, Fadk

MMRRC Submission

039970-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1956 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73205102-73423280 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73215983 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 902 (V902D)

Ref Sequence

ENSEMBL: ENSMUSP00000154242 (fasta)

Gene Model

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

AlphaFold

P34152

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110036
AA Change: V902D

PolyPhen 2 Score 0.492 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105663
Gene: ENSMUSG00000022607
AA Change: V902D

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

possibly damaging
Transcript: ENSMUST00000170939
AA Change: V902D

PolyPhen 2 Score 0.492 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000126764
Gene: ENSMUSG00000022607
AA Change: V902D

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

possibly damaging
Transcript: ENSMUST00000226988
AA Change: V902D

PolyPhen 2 Score 0.492 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228457

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228628

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	T	4: 42,970,105 (GRCm38)		probably null	Het
2610044O15Rik8	A	T	8: 129,221,828 (GRCm38)	D41E	possibly damaging	Het
Aard	A	T	15: 52,044,920 (GRCm38)	D157V	probably damaging	Het
Abcg5	A	G	17: 84,670,375 (GRCm38)	V151A	probably damaging	Het
Acss3	A	G	10: 106,936,168 (GRCm38)	V682A	probably benign	Het
Adamts9	A	T	6: 92,859,849 (GRCm38)	C641S	probably damaging	Het
Adipor1	T	C	1: 134,423,033 (GRCm38)	S7P	probably benign	Het
Ankrd27	T	A	7: 35,603,839 (GRCm38)	Y215N	probably damaging	Het
Arhgef7	T	A	8: 11,805,266 (GRCm38)	L182Q	probably damaging	Het
Arnt	C	T	3: 95,448,393 (GRCm38)	S16L	possibly damaging	Het
Arrdc4	T	C	7: 68,741,799 (GRCm38)	K240R	probably benign	Het
Atg2b	T	C	12: 105,669,418 (GRCm38)	Y197C	probably damaging	Het
Atp13a2	A	G	4: 141,004,261 (GRCm38)	K907R	possibly damaging	Het
Cadps2	A	T	6: 23,287,686 (GRCm38)	M1160K	probably damaging	Het
Ccdc105	A	G	10: 78,750,539 (GRCm38)		probably null	Het
Cdk12	A	G	11: 98,219,216 (GRCm38)	T688A	probably benign	Het
Cfap43	T	A	19: 47,897,210 (GRCm38)	Y322F	probably benign	Het
Crabp2	T	C	3: 87,948,886 (GRCm38)	F16L	probably damaging	Het
Creb3	A	G	4: 43,563,279 (GRCm38)		probably null	Het
Crk	T	C	11: 75,692,670 (GRCm38)	Y239H	possibly damaging	Het
Cyp3a13	A	G	5: 137,909,942 (GRCm38)	I215T	probably benign	Het
D130043K22Rik	A	G	13: 24,885,595 (GRCm38)	Y879C	probably damaging	Het
Depdc5	T	C	5: 32,903,831 (GRCm38)	V334A	probably damaging	Het
Dgkh	T	C	14: 78,618,541 (GRCm38)	N231S	probably damaging	Het
Disp2	T	A	2: 118,792,223 (GRCm38)	H1145Q	probably benign	Het
Epb41l4b	T	C	4: 57,038,553 (GRCm38)	T563A	possibly damaging	Het
Ephb3	G	A	16: 21,221,382 (GRCm38)	R498H	probably damaging	Het
F10	T	C	8: 13,055,422 (GRCm38)	I329T	probably damaging	Het
Fam13b	G	T	18: 34,445,329 (GRCm38)	Q760K	possibly damaging	Het
Fmo4	G	A	1: 162,803,690 (GRCm38)	T236I	probably benign	Het
Foxp4	C	T	17: 47,875,871 (GRCm38)	R378Q	unknown	Het
Fpr-rs4	A	G	17: 18,022,256 (GRCm38)	Y175C	probably damaging	Het
Fzd8	T	A	18: 9,214,502 (GRCm38)	M528K	probably damaging	Het
Gcc2	A	G	10: 58,286,143 (GRCm38)	H1134R	possibly damaging	Het
Gdf10	G	A	14: 33,932,753 (GRCm38)	A406T	probably benign	Het
Ggn	T	A	7: 29,171,916 (GRCm38)	S240R	probably damaging	Het
Git2	C	T	5: 114,749,337 (GRCm38)	W299*	probably null	Het
Gm42669	A	T	5: 107,508,872 (GRCm38)	E355D	possibly damaging	Het
Gm5134	T	C	10: 76,004,846 (GRCm38)	F508S	possibly damaging	Het
Gm9923	G	T	10: 72,309,660 (GRCm38)	V114L	probably benign	Het
Has3	A	T	8: 106,878,803 (GRCm38)	Y547F	probably benign	Het
Heatr5a	A	G	12: 51,945,419 (GRCm38)		probably null	Het
Hnrnpk	A	T	13: 58,396,186 (GRCm38)		probably null	Het
Ifna4	A	T	4: 88,842,074 (GRCm38)	I72F	probably damaging	Het
Ip6k3	A	T	17: 27,151,168 (GRCm38)	L92Q	probably benign	Het
Itpripl1	T	C	2: 127,142,007 (GRCm38)	E65G	probably damaging	Het
Kcnh5	G	C	12: 74,897,584 (GRCm38)	Q964E	probably benign	Het
Kmt2d	A	G	15: 98,859,590 (GRCm38)		probably benign	Het
Lrrc69	A	G	4: 14,665,986 (GRCm38)	V324A	possibly damaging	Het
Mefv	T	C	16: 3,717,827 (GRCm38)	Q79R	probably damaging	Het
Mettl17	T	C	14: 51,888,797 (GRCm38)	S168P	probably damaging	Het
Mpp4	A	T	1: 59,158,652 (GRCm38)	S23T	probably benign	Het
Nabp1	A	T	1: 51,477,845 (GRCm38)	V24D	probably damaging	Het
Nod2	T	A	8: 88,664,208 (GRCm38)	F359Y	probably damaging	Het
Olfr1355	A	G	10: 78,879,433 (GRCm38)	Q87R	probably benign	Het
Olfr1461	T	C	19: 13,165,196 (GRCm38)	Y61H	probably damaging	Het
Olfr1511	C	T	14: 52,390,580 (GRCm38)	M64I	probably benign	Het
Olfr2	C	T	7: 107,001,135 (GRCm38)	A242T	probably damaging	Het
Olfr406	A	T	11: 74,269,844 (GRCm38)	T152S	probably damaging	Het
Olfr64	T	G	7: 103,893,718 (GRCm38)	S6R	probably benign	Het
Olfr653	C	A	7: 104,579,909 (GRCm38)	L88M	probably damaging	Het
Olfr987	T	C	2: 85,331,100 (GRCm38)	D266G	probably benign	Het
Pcdh18	T	C	3: 49,755,951 (GRCm38)	H305R	probably benign	Het
Phf1	T	A	17: 26,935,745 (GRCm38)		probably null	Het
Pold3	T	C	7: 100,088,111 (GRCm38)	K379R	probably benign	Het
Pou2f3	T	A	9: 43,145,237 (GRCm38)	T108S	probably benign	Het
Prdm5	C	A	6: 65,936,076 (GRCm38)	T203K	probably damaging	Het
Psma5	A	G	3: 108,266,444 (GRCm38)	S79G	probably benign	Het
Psme4	T	A	11: 30,832,424 (GRCm38)	S889T	probably damaging	Het
Rad54l	T	A	4: 116,110,357 (GRCm38)	I243F	probably damaging	Het
Ralgapa2	A	G	2: 146,460,759 (GRCm38)	F95L	probably benign	Het
Rassf6	G	A	5: 90,615,871 (GRCm38)	Q71*	probably null	Het
Ryr2	A	T	13: 11,681,080 (GRCm38)	L2967H	probably damaging	Het
Scn5a	T	C	9: 119,517,413 (GRCm38)	T1058A	possibly damaging	Het
Sdk1	T	C	5: 142,094,581 (GRCm38)	L1276P	probably damaging	Het
Serpina12	T	G	12: 104,035,789 (GRCm38)	T223P	probably damaging	Het
Sh3yl1	A	G	12: 30,942,788 (GRCm38)		probably null	Het
St6galnac5	T	A	3: 152,846,483 (GRCm38)	Q149L	probably benign	Het
Stam2	T	C	2: 52,708,227 (GRCm38)		probably null	Het
Tac2	A	G	10: 127,728,480 (GRCm38)		probably null	Het
Tbata	G	A	10: 61,183,477 (GRCm38)	D271N	probably damaging	Het
Tbx3	T	C	5: 119,680,953 (GRCm38)	V531A	probably benign	Het
Thra	T	A	11: 98,763,741 (GRCm38)	D312E	probably benign	Het
Tlr1	T	A	5: 64,925,177 (GRCm38)	I686F	probably damaging	Het
Tmem86b	A	T	7: 4,628,707 (GRCm38)	F115L	probably benign	Het
Tmem94	A	G	11: 115,788,674 (GRCm38)	D259G	possibly damaging	Het
Trim69	G	A	2: 122,174,475 (GRCm38)		probably null	Het
Twistnb	T	A	12: 33,437,818 (GRCm38)	V244D	probably benign	Het
Usp43	T	A	11: 67,904,333 (GRCm38)	Q243L	probably damaging	Het
Vcam1	T	C	3: 116,125,957 (GRCm38)	Y226C	probably damaging	Het
Vmn2r104	A	T	17: 20,042,051 (GRCm38)	N272K	probably damaging	Het
Vmn2r26	G	A	6: 124,053,887 (GRCm38)	C527Y	probably damaging	Het
Vmn2r84	G	A	10: 130,390,808 (GRCm38)	A387V	probably benign	Het
Vps13b	A	T	15: 35,869,407 (GRCm38)	I2686F	probably damaging	Het
Vps8	C	T	16: 21,461,142 (GRCm38)	T281M	probably damaging	Het
Wdfy3	A	G	5: 101,919,409 (GRCm38)	V1219A	probably benign	Het
Wnt9b	A	G	11: 103,730,812 (GRCm38)	C340R	probably damaging	Het
Zfhx3	T	C	8: 108,794,142 (GRCm38)	V632A	probably benign	Het
Zfp341	A	T	2: 154,638,212 (GRCm38)	T528S	probably benign	Het
Zfp990	G	A	4: 145,534,882 (GRCm38)	A33T	probably damaging	Het
Zranb1	T	G	7: 132,982,729 (GRCm38)	S601R	probably damaging	Het
Zyx	A	T	6: 42,351,355 (GRCm38)	K166I	probably damaging	Het

Other mutations in Ptk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00861:Ptk2	APN	15	73,262,547 (GRCm38)	missense	probably damaging	1.00
IGL00913:Ptk2	APN	15	73,295,389 (GRCm38)	splice site	probably benign
IGL01605:Ptk2	APN	15	73,264,339 (GRCm38)	splice site	probably benign
IGL01631:Ptk2	APN	15	73,216,371 (GRCm38)	missense	probably damaging	1.00
IGL01952:Ptk2	APN	15	73,229,931 (GRCm38)	missense	probably damaging	0.99
IGL01957:Ptk2	APN	15	73,242,473 (GRCm38)	missense	probably benign	0.05
IGL02441:Ptk2	APN	15	73,320,826 (GRCm38)	missense	probably benign	0.16
IGL02471:Ptk2	APN	15	73,298,187 (GRCm38)	missense	probably benign	0.41
IGL02621:Ptk2	APN	15	73,206,145 (GRCm38)	missense	probably damaging	0.99
IGL03198:Ptk2	APN	15	73,236,216 (GRCm38)	missense	probably damaging	1.00
Shooter	UTSW	15	73,304,444 (GRCm38)	missense	possibly damaging	0.83
R0239:Ptk2	UTSW	15	73,343,283 (GRCm38)	splice site	probably null
R0239:Ptk2	UTSW	15	73,343,283 (GRCm38)	splice site	probably null
R1254:Ptk2	UTSW	15	73,229,970 (GRCm38)	missense	probably benign	0.01
R1291:Ptk2	UTSW	15	73,210,756 (GRCm38)	missense	probably damaging	1.00
R1307:Ptk2	UTSW	15	73,292,046 (GRCm38)	missense	probably benign	0.01
R1608:Ptk2	UTSW	15	73,262,575 (GRCm38)	missense	probably damaging	0.98
R1690:Ptk2	UTSW	15	73,262,610 (GRCm38)	missense	probably damaging	1.00
R1724:Ptk2	UTSW	15	73,242,406 (GRCm38)	missense	possibly damaging	0.58
R1725:Ptk2	UTSW	15	73,242,406 (GRCm38)	missense	possibly damaging	0.58
R1740:Ptk2	UTSW	15	73,242,406 (GRCm38)	missense	possibly damaging	0.58
R1741:Ptk2	UTSW	15	73,242,406 (GRCm38)	missense	possibly damaging	0.58
R1840:Ptk2	UTSW	15	73,210,884 (GRCm38)	missense	probably damaging	1.00
R2022:Ptk2	UTSW	15	73,242,406 (GRCm38)	missense	possibly damaging	0.58
R2092:Ptk2	UTSW	15	73,236,191 (GRCm38)	nonsense	probably null
R2114:Ptk2	UTSW	15	73,242,406 (GRCm38)	missense	possibly damaging	0.58
R2115:Ptk2	UTSW	15	73,242,406 (GRCm38)	missense	possibly damaging	0.58
R2336:Ptk2	UTSW	15	73,266,116 (GRCm38)	missense	probably damaging	1.00
R2571:Ptk2	UTSW	15	73,231,919 (GRCm38)	missense	probably damaging	1.00
R4232:Ptk2	UTSW	15	73,309,849 (GRCm38)	missense	possibly damaging	0.61
R4245:Ptk2	UTSW	15	73,231,976 (GRCm38)	missense	probably benign	0.00
R4594:Ptk2	UTSW	15	73,206,196 (GRCm38)	missense	probably damaging	1.00
R4688:Ptk2	UTSW	15	73,206,225 (GRCm38)	missense	probably damaging	1.00
R4834:Ptk2	UTSW	15	73,216,096 (GRCm38)	splice site	probably null
R4847:Ptk2	UTSW	15	73,231,956 (GRCm38)	missense	probably benign
R5558:Ptk2	UTSW	15	73,304,445 (GRCm38)	missense	probably damaging	0.97
R5682:Ptk2	UTSW	15	73,262,564 (GRCm38)	nonsense	probably null
R5858:Ptk2	UTSW	15	73,321,095 (GRCm38)	missense	probably benign	0.12
R5951:Ptk2	UTSW	15	73,303,833 (GRCm38)	missense	possibly damaging	0.88
R6014:Ptk2	UTSW	15	73,304,444 (GRCm38)	missense	possibly damaging	0.83
R6027:Ptk2	UTSW	15	73,229,913 (GRCm38)	missense	probably damaging	1.00
R6082:Ptk2	UTSW	15	73,276,865 (GRCm38)	missense	probably damaging	1.00
R7025:Ptk2	UTSW	15	73,221,809 (GRCm38)	missense	possibly damaging	0.46
R7031:Ptk2	UTSW	15	73,221,809 (GRCm38)	missense	possibly damaging	0.46
R7032:Ptk2	UTSW	15	73,221,809 (GRCm38)	missense	possibly damaging	0.46
R7077:Ptk2	UTSW	15	73,221,809 (GRCm38)	missense	possibly damaging	0.46
R7078:Ptk2	UTSW	15	73,221,809 (GRCm38)	missense	possibly damaging	0.46
R7079:Ptk2	UTSW	15	73,221,809 (GRCm38)	missense	possibly damaging	0.46
R7090:Ptk2	UTSW	15	73,221,809 (GRCm38)	missense	possibly damaging	0.46
R7091:Ptk2	UTSW	15	73,221,809 (GRCm38)	missense	possibly damaging	0.46
R7092:Ptk2	UTSW	15	73,221,809 (GRCm38)	missense	possibly damaging	0.46
R7136:Ptk2	UTSW	15	73,221,809 (GRCm38)	missense	possibly damaging	0.46
R7137:Ptk2	UTSW	15	73,221,809 (GRCm38)	missense	possibly damaging	0.46
R7798:Ptk2	UTSW	15	73,295,375 (GRCm38)	missense	probably damaging	1.00
R8057:Ptk2	UTSW	15	73,298,199 (GRCm38)	frame shift	probably null
R8235:Ptk2	UTSW	15	73,343,291 (GRCm38)	missense	probably benign	0.00
R9106:Ptk2	UTSW	15	73,259,608 (GRCm38)	missense	possibly damaging	0.95
R9160:Ptk2	UTSW	15	73,216,084 (GRCm38)	missense	probably benign	0.01
R9301:Ptk2	UTSW	15	73,274,497 (GRCm38)	missense	probably damaging	1.00
R9448:Ptk2	UTSW	15	73,343,192 (GRCm38)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- AAGTCCCTCAAGCCTAGCATG -3'
(R):5'- GTACCAATGCTAGTAGTGATGGGG -3'

Sequencing Primer
(F):5'- GCATGCTTACAGAGTCCATTCAGG -3'
(R):5'- GCTGGGTGGGCCTTAAAGTC -3'

Posted On

2014-08-01