Mutagenetix > Incidental Mutations

Incidental Mutation 'R8520:Ptk2b'

658607

Institutional Source

Beutler Lab

Gene Symbol

Ptk2b

Ensembl Gene

ENSMUSG00000059456

Gene Name

PTK2 protein tyrosine kinase 2 beta

Synonyms

CAKbeta, cellular adhesion kinase beta, E430023O05Rik, proline-rich tyrosine kinase 2, Raftk, related adhesion focal tyrosine kinase, PYK2, calcium-dependent tyrosine kinase

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.426) question?

Stock #

R8520 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66153257-66281052 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 66174755 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 396 (S396C)

Ref Sequence

ENSEMBL: ENSMUSP00000137008 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022622] [ENSMUST00000089250] [ENSMUST00000111121] [ENSMUST00000178730]

AlphaFold

Q9QVP9

Predicted Effect

probably damaging
Transcript: ENSMUST00000022622
AA Change: S396C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022622
Gene: ENSMUSG00000059456
AA Change: S396C

Domain	Start	End	E-Value	Type
B41	35	265	1.33e-45	SMART
TyrKc	425	679	1.46e-139	SMART
low complexity region	713	726	N/A	INTRINSIC
Pfam:Focal_AT	870	1008	1.7e-67	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000089250
AA Change: S396C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000086661
Gene: ENSMUSG00000059456
AA Change: S396C

Domain	Start	End	E-Value	Type
B41	35	265	1.33e-45	SMART
TyrKc	425	679	1.46e-139	SMART
low complexity region	713	726	N/A	INTRINSIC
Pfam:Focal_AT	828	966	2e-68	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111121
AA Change: S396C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106750
Gene: ENSMUSG00000059456
AA Change: S396C

Domain	Start	End	E-Value	Type
B41	35	265	1.33e-45	SMART
TyrKc	425	679	1.46e-139	SMART
low complexity region	713	726	N/A	INTRINSIC
Pfam:Focal_AT	866	1004	1.1e-67	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154865

SMART Domains

Protein: ENSMUSP00000122683
Gene: ENSMUSG00000059456

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	83	8.5e-27	PFAM
low complexity region	117	130	N/A	INTRINSIC
Pfam:Focal_AT	243	375	5e-57	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000178730
AA Change: S396C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137008
Gene: ENSMUSG00000059456
AA Change: S396C

Domain	Start	End	E-Value	Type
B41	35	265	1.33e-45	SMART
TyrKc	425	679	1.46e-139	SMART
low complexity region	713	726	N/A	INTRINSIC
Pfam:Focal_AT	870	1002	2.1e-55	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

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 involved in calcium-induced regulation of ion channels and activation of the map kinase signaling pathway. The encoded protein may represent an important signaling intermediate between neuropeptide-activated receptors or neurotransmitters that increase calcium flux and the downstream signals that regulate neuronal activity. The encoded protein undergoes rapid tyrosine phosphorylation and activation in response to increases in the intracellular calcium concentration, nicotinic acetylcholine receptor activation, membrane depolarization, or protein kinase C activation. This protein has been shown to bind CRK-associated substrate, nephrocystin, GTPase regulator associated with FAK, and the SH2 domain of GRB2. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show alterations in endothelial nitric oxide synthase-mediated vascular function and angiogenic responses. Mice homozygous for a second knock-out allele exhibit multiple defects in macrophage migration and function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	T	13: 59,690,609	F136L	possibly damaging	Het
A430033K04Rik	T	A	5: 138,646,706	N284K	possibly damaging	Het
Abcb1a	T	C	5: 8,685,346	I151T	possibly damaging	Het
Adam28	C	T	14: 68,642,083	G172D	probably damaging	Het
Adcy6	A	G	15: 98,604,160	V191A	probably benign	Het
Ankrd52	T	C	10: 128,389,490	L911P	probably damaging	Het
C5ar1	A	G	7: 16,248,151	S315P	probably damaging	Het
Cubn	A	G	2: 13,308,520		probably null	Het
Dlec1	T	C	9: 119,112,209	S276P	probably benign	Het
Dnah14	T	A	1: 181,653,638	I1564N	probably damaging	Het
Dsg2	G	A	18: 20,579,451	G171R	probably damaging	Het
Dusp13	C	A	14: 21,743,470	G208*	probably null	Het
Ebf3	A	C	7: 137,201,124		probably null	Het
Fbn2	A	T	18: 58,038,198		probably null	Het
Fbxo27	A	G	7: 28,693,342	D16G	probably benign	Het
G6pc3	A	G	11: 102,193,108	S187G	probably benign	Het
Gucy2d	G	A	7: 98,472,306	V995I	probably null	Het
Hmcn2	C	A	2: 31,354,714	P728T	probably damaging	Het
Il1r2	T	C	1: 40,105,339	L62P	probably damaging	Het
Ints7	T	C	1: 191,582,491	S63P	probably damaging	Het
Mcf2l	C	A	8: 12,880,089	D36E	probably benign	Het
Mfsd13b	T	G	7: 120,991,363	I109S	probably benign	Het
Mier2	G	A	10: 79,542,429	H385Y	possibly damaging	Het
Mydgf	C	A	17: 56,183,734		probably null	Het
Nanog	A	T	6: 122,713,516	L268F	possibly damaging	Het
Olfr305	A	T	7: 86,364,263	C25S	probably benign	Het
Olfr536	T	A	7: 140,504,402	D19V	probably benign	Het
Otud4	T	A	8: 79,659,267	N256K	probably damaging	Het
P2rx1	A	T	11: 73,008,953	D128V	probably benign	Het
Pappa	G	A	4: 65,335,764	V1552I	probably benign	Het
Pax8	A	T	2: 24,443,022	F103I	probably damaging	Het
Rnf148	A	G	6: 23,654,170	Y276H	probably damaging	Het
Sec11c	A	T	18: 65,814,840	I93L	probably damaging	Het
Serpinb2	T	A	1: 107,523,180	N217K	probably benign	Het
Slc2a13	T	A	15: 91,572,902	T66S	probably damaging	Het
Slc4a3	T	C	1: 75,549,862	M9T	probably benign	Het
Sord	G	A	2: 122,256,942	V176I	possibly damaging	Het
Thbs4	G	A	13: 92,754,284	Q892*	probably null	Het
Thsd7b	T	A	1: 129,921,420	D956E	probably benign	Het
Tmem251	T	A	12: 102,744,172		probably null	Het
Topbp1	T	A	9: 103,308,977		probably null	Het
Tst	T	C	15: 78,405,253	E194G	probably damaging	Het
Ttk	T	A	9: 83,857,327	S484T	possibly damaging	Het
U2surp	A	G	9: 95,502,554	S26P	possibly damaging	Het
Ugt2b37	C	T	5: 87,240,855	A500T	probably benign	Het
Utrn	A	T	10: 12,670,186	Y1669*	probably null	Het
Vmn2r23	A	T	6: 123,741,656	Q656L	probably damaging	Het
Wdr7	A	G	18: 63,987,160	N1424S	probably benign	Het
Xkr9	A	G	1: 13,701,379	D373G	probably benign	Het
Zfp984	T	A	4: 147,756,211	Y61F	probably benign	Het

Other mutations in Ptk2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01346:Ptk2b	APN	14	66177118	missense	possibly damaging	0.54
IGL01940:Ptk2b	APN	14	66158613	missense	probably benign	0.00
IGL02121:Ptk2b	APN	14	66213482	missense	probably benign	0.12
IGL02505:Ptk2b	APN	14	66154243	missense	probably damaging	1.00
IGL03036:Ptk2b	APN	14	66173895	splice site	probably benign
IGL03343:Ptk2b	APN	14	66169421	missense	probably benign	0.10
FR4548:Ptk2b	UTSW	14	66173849	missense	possibly damaging	0.95
FR4737:Ptk2b	UTSW	14	66173849	missense	possibly damaging	0.95
R0217:Ptk2b	UTSW	14	66156381	missense	probably damaging	1.00
R0478:Ptk2b	UTSW	14	66213372	missense	probably damaging	1.00
R0556:Ptk2b	UTSW	14	66172144	missense	probably damaging	1.00
R0631:Ptk2b	UTSW	14	66177751	missense	probably damaging	0.96
R0946:Ptk2b	UTSW	14	66158598	missense	probably benign	0.02
R1502:Ptk2b	UTSW	14	66163080	missense	possibly damaging	0.95
R1583:Ptk2b	UTSW	14	66163114	missense	possibly damaging	0.75
R1876:Ptk2b	UTSW	14	66158392	missense	probably benign	0.01
R1905:Ptk2b	UTSW	14	66158670	missense	probably damaging	1.00
R1942:Ptk2b	UTSW	14	66169381	missense	probably damaging	1.00
R2048:Ptk2b	UTSW	14	66172505	missense	probably benign	0.28
R2377:Ptk2b	UTSW	14	66172548	missense	possibly damaging	0.56
R3021:Ptk2b	UTSW	14	66178183	splice site	probably null
R3793:Ptk2b	UTSW	14	66170251	missense	probably damaging	1.00
R3836:Ptk2b	UTSW	14	66156342	missense	probably damaging	1.00
R3911:Ptk2b	UTSW	14	66157068	missense	possibly damaging	0.83
R4654:Ptk2b	UTSW	14	66163047	missense	possibly damaging	0.86
R4690:Ptk2b	UTSW	14	66173300	splice site	probably null
R4691:Ptk2b	UTSW	14	66157069	missense	probably benign	0.16
R4692:Ptk2b	UTSW	14	66157069	missense	probably benign	0.16
R4693:Ptk2b	UTSW	14	66157069	missense	probably benign	0.16
R4847:Ptk2b	UTSW	14	66173882	missense	probably damaging	1.00
R5176:Ptk2b	UTSW	14	66156415	missense	probably damaging	1.00
R5297:Ptk2b	UTSW	14	66172517	missense	probably benign	0.04
R5603:Ptk2b	UTSW	14	66172065	nonsense	probably null
R5935:Ptk2b	UTSW	14	66173879	missense	probably damaging	1.00
R6245:Ptk2b	UTSW	14	66163066	missense	probably damaging	1.00
R6313:Ptk2b	UTSW	14	66178831	missense	probably damaging	1.00
R6476:Ptk2b	UTSW	14	66187474	missense	possibly damaging	0.81
R6858:Ptk2b	UTSW	14	66213398	missense	probably damaging	1.00
R7235:Ptk2b	UTSW	14	66157087	nonsense	probably null
R7511:Ptk2b	UTSW	14	66154244	missense	possibly damaging	0.81
R7558:Ptk2b	UTSW	14	66154179	missense	possibly damaging	0.83
R7838:Ptk2b	UTSW	14	66158401	missense	probably benign
R8672:Ptk2b	UTSW	14	66156392	missense	probably benign	0.40
R8888:Ptk2b	UTSW	14	66174793	missense	probably benign
R8895:Ptk2b	UTSW	14	66174793	missense	probably benign
R8940:Ptk2b	UTSW	14	66170236	critical splice donor site	probably null
R9164:Ptk2b	UTSW	14	66166773	missense	possibly damaging	0.94
R9168:Ptk2b	UTSW	14	66187450	missense	probably damaging	0.99
R9285:Ptk2b	UTSW	14	66173395	missense	possibly damaging	0.67
R9346:Ptk2b	UTSW	14	66178092	missense	possibly damaging	0.66
X0054:Ptk2b	UTSW	14	66213328	missense	probably benign	0.15
Y5405:Ptk2b	UTSW	14	66154094	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCACTGTGACTTAGAAGGC -3'
(R):5'- AGTCCTGGGCTACTACACTC -3'

Sequencing Primer
(F):5'- CTGTGACTTAGAAGGCTCAGTAAC -3'
(R):5'- TGGGCTACTACACTCCCAGC -3'

Posted On

2021-01-18