Mutagenetix > Incidental Mutation

Incidental Mutation 'R0470:Ptk6'

41782

Institutional Source

Beutler Lab

Gene Symbol

Ptk6

Ensembl Gene

ENSMUSG00000038751

Gene Name

PTK6 protein tyrosine kinase 6

Synonyms

Tksk, Sik

MMRRC Submission

038670-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0470 (G1)

Quality Score

136

Status

Validated

Chromosome

Chromosomal Location

180836917-180845408 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 180837732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 396 (T396A)

Ref Sequence

ENSEMBL: ENSMUSP00000016511 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016511]

AlphaFold

Q64434

Predicted Effect

probably benign
Transcript: ENSMUST00000016511
AA Change: T396A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000016511
Gene: ENSMUSG00000038751
AA Change: T396A

Domain	Start	End	E-Value	Type
SH3	11	71	2e-16	SMART
SH2	76	161	1.01e-28	SMART
TyrKc	191	441	1.12e-131	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 93.0%

Validation Efficiency

98% (55/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytoplasmic nonreceptor protein kinase which may function as an intracellular signal transducer in epithelial tissues. Overexpression of this gene in mammary epithelial cells leads to sensitization of the cells to epidermal growth factor and results in a partially transformed phenotype. Expression of this gene has been detected at low levels in some breast tumors but not in normal breast tissue. The encoded protein has been shown to undergo autophosphorylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a null allele display increased villus length in the jejunum and ileum and increased villus epithelial cell proliferation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	G	19: 8,986,331 (GRCm39)	D2538E	probably benign	Het
Akr1c13	T	A	13: 4,248,500 (GRCm39)	L235H	probably damaging	Het
Ank	G	A	15: 27,571,721 (GRCm39)	C331Y	probably damaging	Het
Ankrd12	T	C	17: 66,293,129 (GRCm39)	E768G	probably benign	Het
Atm	A	T	9: 53,372,266 (GRCm39)	V2172E	probably damaging	Het
Atp10b	T	A	11: 43,093,866 (GRCm39)	L470Q	possibly damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Ccn4	A	G	15: 66,789,227 (GRCm39)	I238V	probably benign	Het
Cdadc1	A	T	14: 59,811,290 (GRCm39)		probably benign	Het
Cfhr2	A	T	1: 139,749,517 (GRCm39)	V155E	probably damaging	Het
Chp1	C	T	2: 119,391,244 (GRCm39)	R34C	probably damaging	Het
Cilp2	A	T	8: 70,338,055 (GRCm39)	V192E	possibly damaging	Het
Cyth1	T	C	11: 118,023,074 (GRCm39)		probably benign	Het
Dnah8	T	A	17: 30,927,514 (GRCm39)		probably benign	Het
Gja3	T	C	14: 57,273,884 (GRCm39)	T163A	probably damaging	Het
Gsdmcl1	C	T	15: 63,722,280 (GRCm39)		noncoding transcript	Het
Herc6	C	T	6: 57,596,437 (GRCm39)	T459M	probably damaging	Het
Hexb	A	G	13: 97,314,507 (GRCm39)	L412P	probably damaging	Het
Il17ra	T	G	6: 120,458,767 (GRCm39)	D639E	probably benign	Het
Kcnh5	G	A	12: 75,161,188 (GRCm39)	T240I	probably benign	Het
Lef1	T	C	3: 130,906,475 (GRCm39)		probably benign	Het
Lilrb4a	T	A	10: 51,370,923 (GRCm39)	N282K	possibly damaging	Het
Mbnl2	A	T	14: 120,642,062 (GRCm39)	H342L	probably damaging	Het
Minar2	C	T	18: 59,208,711 (GRCm39)	R120C	probably damaging	Het
Nipal3	A	G	4: 135,174,683 (GRCm39)	V356A	probably damaging	Het
Or2a54	C	G	6: 43,093,558 (GRCm39)	A294G	probably null	Het
Or51i1	A	T	7: 103,670,877 (GRCm39)	I216N	probably damaging	Het
Plekha6	G	A	1: 133,200,045 (GRCm39)	R208Q	probably benign	Het
Prkar1b	A	G	5: 139,036,504 (GRCm39)	I82T	probably damaging	Het
Prrc1	C	T	18: 57,496,469 (GRCm39)	T140M	probably damaging	Het
Psg22	A	C	7: 18,453,589 (GRCm39)	S95R	probably damaging	Het
Ptov1	A	G	7: 44,514,235 (GRCm39)	S9P	probably damaging	Het
Scin	A	C	12: 40,123,291 (GRCm39)		probably benign	Het
Sec13	T	C	6: 113,717,593 (GRCm39)		probably benign	Het
Setd1a	G	A	7: 127,384,229 (GRCm39)		probably benign	Het
Sf3a2	G	A	10: 80,640,388 (GRCm39)		probably benign	Het
Shmt1	T	C	11: 60,683,789 (GRCm39)	Y341C	possibly damaging	Het
Slc27a4	T	A	2: 29,694,197 (GRCm39)	L7Q	probably benign	Het
Slc41a2	T	C	10: 83,152,086 (GRCm39)	M130V	possibly damaging	Het
Sorcs3	T	C	19: 48,785,956 (GRCm39)		probably null	Het
Tex24	C	T	8: 27,834,936 (GRCm39)	R155*	probably null	Het
Tgfb1	T	A	7: 25,387,355 (GRCm39)		probably benign	Het
Tmc5	A	G	7: 118,239,154 (GRCm39)	D349G	possibly damaging	Het
Trappc13	C	T	13: 104,297,512 (GRCm39)	V131I	possibly damaging	Het
Trim66	A	G	7: 109,056,749 (GRCm39)		probably benign	Het
Tspoap1	T	C	11: 87,666,988 (GRCm39)	S1027P	probably damaging	Het
Usp34	C	T	11: 23,386,001 (GRCm39)	H2143Y	possibly damaging	Het
Vmn1r179	A	C	7: 23,627,818 (GRCm39)	Y3S	probably benign	Het
Vmn1r231	G	A	17: 21,110,265 (GRCm39)	Q217*	probably null	Het
Vmn1r62	T	A	7: 5,679,066 (GRCm39)	L249*	probably null	Het
Vmn1r71	G	C	7: 10,482,019 (GRCm39)	S223C	possibly damaging	Het
Vmn2r109	T	C	17: 20,773,148 (GRCm39)	Q491R	probably benign	Het
Vwf	G	A	6: 125,605,391 (GRCm39)	V925M	possibly damaging	Het
Zbtb6	A	C	2: 37,319,505 (GRCm39)	L141W	probably damaging	Het
Zranb1	G	T	7: 132,584,500 (GRCm39)	L615F	probably damaging	Het

Other mutations in Ptk6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Ptk6	APN	2	180,837,611 (GRCm39)	missense	probably benign	0.00
IGL01630:Ptk6	APN	2	180,838,859 (GRCm39)	missense	probably damaging	0.99
IGL01862:Ptk6	APN	2	180,841,433 (GRCm39)	missense	probably benign	0.00
IGL02231:Ptk6	APN	2	180,838,794 (GRCm39)	missense	probably damaging	1.00
IGL02965:Ptk6	APN	2	180,840,861 (GRCm39)	splice site	probably benign
R0115:Ptk6	UTSW	2	180,844,320 (GRCm39)	start gained	probably benign
R0139:Ptk6	UTSW	2	180,838,724 (GRCm39)	splice site	probably benign
R0245:Ptk6	UTSW	2	180,844,284 (GRCm39)	missense	probably benign
R0358:Ptk6	UTSW	2	180,840,315 (GRCm39)	missense	probably benign	0.01
R0416:Ptk6	UTSW	2	180,844,101 (GRCm39)	missense	possibly damaging	0.94
R0454:Ptk6	UTSW	2	180,844,075 (GRCm39)	missense	possibly damaging	0.86
R0481:Ptk6	UTSW	2	180,844,320 (GRCm39)	start gained	probably benign
R1147:Ptk6	UTSW	2	180,837,590 (GRCm39)	missense	probably benign	0.23
R1147:Ptk6	UTSW	2	180,837,590 (GRCm39)	missense	probably benign	0.23
R1234:Ptk6	UTSW	2	180,844,233 (GRCm39)	missense	possibly damaging	0.94
R2249:Ptk6	UTSW	2	180,838,173 (GRCm39)	missense	probably benign	0.03
R4842:Ptk6	UTSW	2	180,838,784 (GRCm39)	missense	possibly damaging	0.89
R5568:Ptk6	UTSW	2	180,841,488 (GRCm39)	missense	possibly damaging	0.47
R5806:Ptk6	UTSW	2	180,841,523 (GRCm39)	missense	possibly damaging	0.95
R6017:Ptk6	UTSW	2	180,837,605 (GRCm39)	missense	probably benign	0.32
R6285:Ptk6	UTSW	2	180,838,886 (GRCm39)	missense	probably null	1.00
R6293:Ptk6	UTSW	2	180,840,253 (GRCm39)	missense	probably damaging	1.00
R6468:Ptk6	UTSW	2	180,840,895 (GRCm39)	missense	probably benign
R7369:Ptk6	UTSW	2	180,840,254 (GRCm39)	missense	possibly damaging	0.86
R8256:Ptk6	UTSW	2	180,837,633 (GRCm39)	nonsense	probably null
R9335:Ptk6	UTSW	2	180,844,146 (GRCm39)	missense	probably damaging	1.00
R9439:Ptk6	UTSW	2	180,840,206 (GRCm39)	missense	possibly damaging	0.75
R9500:Ptk6	UTSW	2	180,837,566 (GRCm39)	missense	probably benign	0.07
X0062:Ptk6	UTSW	2	180,844,116 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGTCCAGGATAATCACGAGGCCC -3'
(R):5'- GTATTGCCCCAAGAATGTCTCCAGG -3'

Sequencing Primer
(F):5'- GATAATCACGAGGCCCTCTTCTG -3'
(R):5'- TTCTGGGAGACACCATCCAC -3'

Posted On

2013-05-23