Mutagenetix > Incidental Mutations

Incidental Mutation 'R0631:Ptk2b'

58007

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

038820-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.520) question?

Stock #

R0631 (G1)

Quality Score

219

Status

Validated

Chromosome

Chromosomal Location

66153257-66281052 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66177751 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 276 (T276A)

Ref Sequence

ENSEMBL: ENSMUSP00000106750 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000022622
AA Change: T276A

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000022622
Gene: ENSMUSG00000059456
AA Change: T276A

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 benign
Transcript: ENSMUST00000089250
AA Change: T276A

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

SMART Domains

Protein: ENSMUSP00000086661
Gene: ENSMUSG00000059456
AA Change: T276A

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: T276A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106750
Gene: ENSMUSG00000059456
AA Change: T276A

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

noncoding transcript
Transcript: ENSMUST00000127083

Predicted Effect

probably benign
Transcript: ENSMUST00000178730
AA Change: T276A

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000137008
Gene: ENSMUSG00000059456
AA Change: T276A

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

Meta Mutation Damage Score

0.1035

Coding Region Coverage

1x: 99.4%
3x: 99.1%
10x: 98.1%
20x: 96.8%

Validation Efficiency

97% (129/133)

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: 131 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833427G06Rik	T	A	9: 51,101,953	R6S	probably benign	Het
Aadat	T	C	8: 60,529,445		probably benign	Het
Afap1l2	T	C	19: 56,916,085	E594G	probably benign	Het
Ak8	T	G	2: 28,735,665	I240S	probably damaging	Het
Akap13	T	C	7: 75,614,996	V174A	probably damaging	Het
Alppl2	G	A	1: 87,089,373	T66I	probably damaging	Het
Ankrd61	T	A	5: 143,894,879	I36F	probably damaging	Het
Antxrl	T	A	14: 34,058,801		probably null	Het
Arhgef2	G	C	3: 88,634,436	V244L	probably damaging	Het
Arid1a	A	G	4: 133,689,170	I1098T	unknown	Het
Atr	T	C	9: 95,874,777	V903A	possibly damaging	Het
AW549877	A	G	15: 3,986,489		probably benign	Het
B3gnt6	C	A	7: 98,193,692	A354S	probably benign	Het
Bnc1	A	T	7: 81,974,366	I371N	probably damaging	Het
Camsap1	A	T	2: 25,933,647	S1464T	probably damaging	Het
Cand2	G	A	6: 115,803,805	E1217K	probably damaging	Het
Cass4	T	C	2: 172,432,411	I728T	probably damaging	Het
Ccdc88a	A	T	11: 29,493,752	M1378L	probably damaging	Het
Ccdc9	C	A	7: 16,278,459	W266L	probably damaging	Het
Cct6b	C	A	11: 82,737,088		probably null	Het
Cd177	T	C	7: 24,756,686	E219G	probably benign	Het
Cdkal1	A	T	13: 29,354,684	Y497*	probably null	Het
Chmp2a	T	C	7: 13,032,444	E107G	probably damaging	Het
Chrna2	T	G	14: 66,149,308	V301G	probably benign	Het
Chrna7	A	G	7: 63,099,643	C364R	probably benign	Het
Cltc	G	T	11: 86,712,613	L796I	probably benign	Het
Col12a1	T	C	9: 79,703,376	T249A	probably damaging	Het
Col13a1	G	A	10: 61,887,350	Q270*	probably null	Het
Col6a1	C	T	10: 76,709,735	V968M	probably benign	Het
Copb1	C	A	7: 114,233,282	V511F	probably benign	Het
Daw1	C	G	1: 83,197,260	S160R	probably damaging	Het
Ddx46	A	G	13: 55,639,777		probably benign	Het
Depdc7	T	C	2: 104,721,987	K492E	possibly damaging	Het
Dmbt1	C	T	7: 131,097,653	A1004V	possibly damaging	Het
Dnah7b	G	A	1: 46,240,992	V2694I	probably benign	Het
Dnhd1	T	A	7: 105,651,624	F63I	probably benign	Het
Edc4	C	A	8: 105,890,792	A1052E	possibly damaging	Het
Eif2s2	T	A	2: 154,884,358	K129M	probably damaging	Het
Emx2	A	G	19: 59,464,028	D248G	probably damaging	Het
Erich6b	T	C	14: 75,659,009		probably benign	Het
Exoc3l4	A	G	12: 111,427,966	K507E	probably benign	Het
Fanci	T	A	7: 79,406,205	V195E	probably damaging	Het
Fgfr2	T	G	7: 130,227,239		probably benign	Het
Frem1	A	G	4: 82,972,165	S1007P	probably damaging	Het
Fry	T	C	5: 150,496,352	I993T	possibly damaging	Het
Fst	A	G	13: 114,454,502	S244P	possibly damaging	Het
Gcc1	T	C	6: 28,421,010	T103A	probably damaging	Het
Gdf2	C	T	14: 33,941,221	P24L	probably damaging	Het
Gja3	T	C	14: 57,036,762	D51G	possibly damaging	Het
Gm10305	A	G	4: 99,273,076	D74G	unknown	Het
Gm12689	G	T	4: 99,296,021	G37V	unknown	Het
Gm5424	C	T	10: 62,071,534		noncoding transcript	Het
Hephl1	T	C	9: 15,084,524	E434G	probably benign	Het
Htatip2	T	C	7: 49,773,311	C205R	possibly damaging	Het
Igf2r	T	C	17: 12,717,274		probably null	Het
Ints2	T	C	11: 86,233,196	I589V	probably benign	Het
Itgae	T	A	11: 73,114,907	V299D	probably damaging	Het
Kcnma1	T	C	14: 23,509,784		probably benign	Het
Kif11	A	G	19: 37,413,117		probably benign	Het
Kif13a	A	G	13: 46,778,888		probably benign	Het
Kif18a	T	A	2: 109,298,322		probably benign	Het
Klhl29	T	C	12: 5,094,883	T406A	probably benign	Het
Litaf	A	T	16: 10,966,412		probably benign	Het
Lmntd1	T	A	6: 145,430,000	I71F	probably benign	Het
Lrit3	A	C	3: 129,788,555	C594W	probably damaging	Het
Lrp6	T	A	6: 134,479,775	Q842L	possibly damaging	Het
Lrrcc1	T	A	3: 14,540,119		probably benign	Het
Macf1	A	T	4: 123,455,524	L1829*	probably null	Het
Mapk1ip1	T	C	7: 138,835,955	T249A	possibly damaging	Het
Mfap4	T	C	11: 61,487,180	F173L	probably damaging	Het
Mfsd9	C	A	1: 40,790,474		probably benign	Het
Mgat4b	T	C	11: 50,230,763	S69P	probably damaging	Het
Mki67	A	T	7: 135,704,388	V620D	probably damaging	Het
Moxd1	C	T	10: 24,252,954	T201I	probably damaging	Het
Msh4	G	C	3: 153,866,420	D774E	probably benign	Het
Myg1	C	T	15: 102,331,849	R37C	probably benign	Het
Myrf	C	A	19: 10,228,882	A57S	probably benign	Het
Ndst1	G	A	18: 60,700,359		probably benign	Het
Nedd4l	A	T	18: 65,208,503		probably benign	Het
Neil2	T	A	14: 63,183,400	I281F	possibly damaging	Het
Nfatc2	T	A	2: 168,590,115	D26V	probably benign	Het
Nt5c	A	G	11: 115,490,714		probably null	Het
Olfr1095	T	C	2: 86,850,967	T244A	probably benign	Het
Olfr1369-ps1	G	T	13: 21,115,908	C72F	probably damaging	Het
Olfr202	A	G	16: 59,284,207	C97R	possibly damaging	Het
Olfr372	T	A	8: 72,058,322	I214N	probably damaging	Het
Olfr538	T	G	7: 140,574,507	M118R	probably damaging	Het
Ovch2	A	G	7: 107,782,021	S557P	probably benign	Het
Pik3cg	A	G	12: 32,205,203	S262P	probably benign	Het
Pla2g6	T	A	15: 79,306,396	H322L	probably damaging	Het
Plch1	A	T	3: 63,699,219	L1079Q	probably benign	Het
Plekhg4	T	A	8: 105,379,302	V777D	probably damaging	Het
Plekhg5	A	G	4: 152,112,419	D747G	possibly damaging	Het
Poln	C	A	5: 34,118,958	V318F	possibly damaging	Het
Pou5f2	T	A	13: 78,025,754	S272T	probably benign	Het
Ppp1r3e	T	G	14: 54,876,616	S200R	possibly damaging	Het
Prl7d1	G	A	13: 27,710,182	P135S	probably benign	Het
Ptgs2	G	A	1: 150,104,537	V409I	probably benign	Het
Ptpn3	T	C	4: 57,204,921	T747A	probably damaging	Het
Qrfpr	A	G	3: 36,221,989	I84T	probably damaging	Het
Rab44	A	G	17: 29,139,144	D102G	possibly damaging	Het
Rnf125	A	T	18: 20,979,083	D57V	possibly damaging	Het
Rnf145	T	C	11: 44,560,024	F392L	probably damaging	Het
Rttn	A	G	18: 88,989,546	N435S	probably benign	Het
Scn8a	A	G	15: 101,035,537	T1500A	probably damaging	Het
Sgsm1	A	G	5: 113,285,123		probably benign	Het
Sgsm3	A	T	15: 81,011,736	*751C	probably null	Het
Slc35c2	A	C	2: 165,280,929	L145R	probably damaging	Het
Slc4a7	A	T	14: 14,757,382	E396V	probably damaging	Het
Smarca4	G	C	9: 21,658,984		probably benign	Het
Snapc3	T	A	4: 83,417,802	V17D	probably damaging	Het
Snta1	G	T	2: 154,377,072	Q448K	probably benign	Het
Sptbn2	A	G	19: 4,739,986	D1334G	probably benign	Het
Stard5	A	G	7: 83,632,757	R41G	probably damaging	Het
Stxbp5	T	A	10: 9,784,358	N731I	probably benign	Het
Tmem135	T	A	7: 89,143,788	K413*	probably null	Het
Tmem38a	G	A	8: 72,580,018	V114I	probably benign	Het
Tpr	A	G	1: 150,422,531	T1057A	probably damaging	Het
Ttc23l	A	T	15: 10,539,980	L139Q	probably damaging	Het
Ttn	T	A	2: 76,755,296		probably null	Het
Tuba3b	A	G	6: 145,619,576	T257A	probably damaging	Het
Tubgcp6	A	C	15: 89,100,987	Y1633D	probably damaging	Het
Txnl1	C	T	18: 63,671,573		probably benign	Het
Unc13b	A	G	4: 43,182,849	Q3186R	possibly damaging	Het
Vmn2r75	T	A	7: 86,163,270	S514C	probably null	Het
Whrn	G	A	4: 63,419,489	T545I	probably damaging	Het
Zdhhc20	T	C	14: 57,857,640	H154R	probably damaging	Het
Zfp462	A	T	4: 55,007,563	M1L	possibly damaging	Het
Zfp831	A	G	2: 174,645,290	K586R	possibly damaging	Het
Zfp990	A	T	4: 145,537,302	H290L	possibly damaging	Het
Zfpm1	C	T	8: 122,336,874		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
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
R8520:Ptk2b	UTSW	14	66174755	missense	probably damaging	1.00
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'- AGACCCTATAAAGTCTCTGCCCTGG -3'
(R):5'- ACCTACCGCTGCGAACTCATTG -3'

Sequencing Primer
(F):5'- TCTCTGCCCTGGGCAATG -3'
(R):5'- gggggaggggaaagagg -3'

Posted On

2013-07-11