Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02231:Ptk6'

285690

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptk6

Ensembl Gene

ENSMUSG00000038751

Gene Name

PTK6 protein tyrosine kinase 6

Synonyms

Tksk, Sik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02231

Quality Score

Status

Chromosome

Chromosomal Location

180836917-180845408 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 180838794 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 320 (V320I)

Ref Sequence

ENSEMBL: ENSMUSP00000016511 (fasta)

Gene Model

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

AlphaFold

Q64434

Predicted Effect

probably damaging
Transcript: ENSMUST00000016511
AA Change: V320I

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

SMART Domains

Protein: ENSMUSP00000016511
Gene: ENSMUSG00000038751
AA Change: V320I

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

Coding Region Coverage

Validation Efficiency

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alcam	T	A	16: 52,094,413 (GRCm39)		probably benign	Het
Alox15	A	C	11: 70,240,382 (GRCm39)	D266E	probably benign	Het
Atcay	A	T	10: 81,046,382 (GRCm39)	V314E	probably damaging	Het
Atp8b1	C	T	18: 64,683,455 (GRCm39)	G758R	possibly damaging	Het
Bltp2	G	A	11: 78,170,722 (GRCm39)	G1647D	probably benign	Het
Cacna2d4	T	A	6: 119,254,869 (GRCm39)		probably benign	Het
Celsr3	T	C	9: 108,719,709 (GRCm39)	V2429A	probably damaging	Het
Clspn	T	G	4: 126,453,021 (GRCm39)	D11E	probably damaging	Het
Cnot3	A	G	7: 3,661,209 (GRCm39)	T573A	probably benign	Het
Cyp2d34	A	T	15: 82,502,807 (GRCm39)	S140T	probably benign	Het
Edem1	A	G	6: 108,805,849 (GRCm39)	D50G	probably benign	Het
Emilin3	G	A	2: 160,750,435 (GRCm39)	T438I	probably damaging	Het
Etfdh	C	T	3: 79,525,700 (GRCm39)	V173I	probably damaging	Het
Fat2	T	C	11: 55,171,918 (GRCm39)	T2932A	probably damaging	Het
Fcrl1	G	A	3: 87,292,469 (GRCm39)	E154K	possibly damaging	Het
Fcrl1	A	T	3: 87,292,470 (GRCm39)	E154V	probably damaging	Het
G3bp1	T	A	11: 55,386,273 (GRCm39)	L244*	probably null	Het
Itgae	A	T	11: 72,981,448 (GRCm39)	K2M	possibly damaging	Het
Kcnq2	T	C	2: 180,723,508 (GRCm39)	I654V	probably benign	Het
Ksr2	C	T	5: 117,638,841 (GRCm39)	R82C	probably damaging	Het
Lrig3	A	T	10: 125,833,041 (GRCm39)	D305V	probably damaging	Het
Me1	T	C	9: 86,493,908 (GRCm39)	K322E	possibly damaging	Het
Med12l	T	A	3: 59,153,303 (GRCm39)	D1109E	probably damaging	Het
Mest	A	G	6: 30,740,772 (GRCm39)	K73E	possibly damaging	Het
Nup155	T	G	15: 8,173,548 (GRCm39)	L881R	probably damaging	Het
Ocln	A	T	13: 100,677,622 (GRCm39)	S2T	probably damaging	Het
Oosp3	T	C	19: 11,676,803 (GRCm39)	L54S	probably damaging	Het
Pkp3	G	A	7: 140,664,151 (GRCm39)	E443K	probably damaging	Het
Plk2	T	A	13: 110,536,603 (GRCm39)	C632S	probably benign	Het
Ptprt	A	T	2: 162,079,980 (GRCm39)	I273N	probably damaging	Het
Ptprt	A	G	2: 162,119,966 (GRCm39)		probably null	Het
Rab3gap2	T	C	1: 184,999,095 (GRCm39)		probably benign	Het
Rabgef1	G	A	5: 130,240,816 (GRCm39)	A312T	probably damaging	Het
Rabl6	T	A	2: 25,488,196 (GRCm39)	K109N	probably benign	Het
Rbp7	C	T	4: 149,539,334 (GRCm39)		probably null	Het
Reg3a	C	T	6: 78,359,224 (GRCm39)	H75Y	possibly damaging	Het
Rnf123	G	T	9: 107,943,598 (GRCm39)	P546T	probably benign	Het
Rnmt	C	A	18: 68,447,152 (GRCm39)	C345*	probably null	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Slc14a2	C	T	18: 78,252,236 (GRCm39)	S25N	possibly damaging	Het
Spata16	G	T	3: 26,967,413 (GRCm39)	G388W	probably damaging	Het
Speg	C	T	1: 75,400,031 (GRCm39)	R2493W	probably damaging	Het
Thada	T	A	17: 84,736,125 (GRCm39)	D970V	probably damaging	Het
Tmem184c	A	G	8: 78,331,441 (GRCm39)	Y103H	probably damaging	Het
Ttn	A	T	2: 76,628,440 (GRCm39)	D12827E	probably damaging	Het
Utp20	A	G	10: 88,627,030 (GRCm39)	L976S	probably damaging	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het
Zfp936	T	A	7: 42,836,909 (GRCm39)		probably null	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
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
R0470:Ptk6	UTSW	2	180,837,732 (GRCm39)	missense	probably benign
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

Posted On

2015-04-16