Mutagenetix > Incidental Mutation

Incidental Mutation 'R4842:Ptk6'

371890

Institutional Source

Beutler Lab

Gene Symbol

Ptk6

Ensembl Gene

ENSMUSG00000038751

Gene Name

PTK6 protein tyrosine kinase 6

Synonyms

Sik, Tksk

MMRRC Submission

042455-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4842 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

181193721-181202789 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 181196991 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 323 (N323T)

Ref Sequence

ENSEMBL: ENSMUSP00000016511 (fasta)

Gene Model

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

AlphaFold

Q64434

Predicted Effect

possibly damaging
Transcript: ENSMUST00000016511
AA Change: N323T

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000016511
Gene: ENSMUSG00000038751
AA Change: N323T

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

0.1555

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

95% (107/113)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	A	T	17: 14,943,739 (GRCm38)	I43L	possibly damaging	Het
4930449A18Rik	T	A	3: 59,841,732 (GRCm38)		noncoding transcript	Het
9530053A07Rik	T	A	7: 28,150,722 (GRCm38)	C1198S	probably damaging	Het
Abcc8	T	C	7: 46,150,828 (GRCm38)	K510R	probably damaging	Het
Adamtsl3	C	T	7: 82,528,861 (GRCm38)	R511C	probably damaging	Het
Arhgap11a	T	C	2: 113,839,762 (GRCm38)	S339G	probably damaging	Het
C2cd3	A	G	7: 100,416,190 (GRCm38)	T728A	probably benign	Het
Cand1	C	A	10: 119,213,546 (GRCm38)		probably null	Het
Catspere1	A	T	1: 177,872,058 (GRCm38)		noncoding transcript	Het
Cd209c	G	T	8: 3,945,905 (GRCm38)	R2S	probably benign	Het
Cdc16	A	G	8: 13,781,644 (GRCm38)		probably benign	Het
Ces1g	C	T	8: 93,333,695 (GRCm38)	E99K	probably benign	Het
Chrna7	A	C	7: 63,212,448 (GRCm38)	L10R	probably benign	Het
Clnk	C	T	5: 38,713,069 (GRCm38)		probably null	Het
Cntrob	C	G	11: 69,315,394 (GRCm38)	L315F	possibly damaging	Het
Ctdp1	A	G	18: 80,408,726 (GRCm38)	S145P	unknown	Het
Dennd2a	T	C	6: 39,497,110 (GRCm38)	D430G	probably damaging	Het
Dnajc16	A	G	4: 141,774,625 (GRCm38)	F298S	probably damaging	Het
Dock5	T	C	14: 67,817,563 (GRCm38)	D618G	probably damaging	Het
Drc3	G	A	11: 60,370,535 (GRCm38)	A171T	probably benign	Het
Ecel1	A	T	1: 87,153,301 (GRCm38)	N322K	probably damaging	Het
Eftud2	A	G	11: 102,854,814 (GRCm38)	F362L	probably damaging	Het
Egfr	C	T	11: 16,911,607 (GRCm38)	H1129Y	probably benign	Het
Eif2b1	A	G	5: 124,576,908 (GRCm38)	S102P	probably damaging	Het
Erich3	T	A	3: 154,704,843 (GRCm38)	F112I	possibly damaging	Het
Fam107b	T	C	2: 3,778,543 (GRCm38)	L261S	probably damaging	Het
Fam198b	G	A	3: 79,936,605 (GRCm38)	R377H	probably damaging	Het
Fat3	A	C	9: 15,997,587 (GRCm38)	V2373G	probably damaging	Het
Gadd45a	A	T	6: 67,036,889 (GRCm38)	L58Q	probably damaging	Het
Gipr	C	T	7: 19,162,676 (GRCm38)	R165H	probably damaging	Het
Gje1	C	T	10: 14,717,338 (GRCm38)	G45R	probably null	Het
Gldc	T	A	19: 30,133,732 (GRCm38)	N548I	possibly damaging	Het
Gm13035	A	G	4: 146,073,423 (GRCm38)		noncoding transcript	Het
Gm27013	T	A	6: 130,520,737 (GRCm38)		noncoding transcript	Het
Gm5436	A	T	12: 84,258,810 (GRCm38)		noncoding transcript	Het
Gm6588	A	T	5: 112,450,240 (GRCm38)	K218*	probably null	Het
Grik3	C	A	4: 125,691,176 (GRCm38)	N612K	probably damaging	Het
Hfm1	C	A	5: 106,892,751 (GRCm38)	W716L	probably damaging	Het
Hist1h2bl	C	T	13: 21,716,064 (GRCm38)		probably benign	Het
Il5ra	T	C	6: 106,738,375 (GRCm38)	Y166C	probably damaging	Het
Iqcb1	A	G	16: 36,835,590 (GRCm38)	E113G	probably benign	Het
Kcnk10	A	T	12: 98,434,916 (GRCm38)	M486K	probably benign	Het
Kcnv2	A	G	19: 27,323,790 (GRCm38)	D347G	probably damaging	Het
Kif21b	C	A	1: 136,145,220 (GRCm38)	H119N	probably damaging	Het
Lamb1	C	T	12: 31,287,433 (GRCm38)	H388Y	probably damaging	Het
Leng9	T	C	7: 4,149,386 (GRCm38)	D97G	probably damaging	Het
Lmbr1	G	A	5: 29,287,426 (GRCm38)	T55I	probably damaging	Het
Lrp1	G	T	10: 127,583,936 (GRCm38)	R935S	probably damaging	Het
Lrp2	A	T	2: 69,469,411 (GRCm38)	V3099E	probably benign	Het
Lrrcc1	C	A	3: 14,562,511 (GRCm38)	D503E	probably benign	Het
Map1a	T	A	2: 121,302,086 (GRCm38)	S890T	probably damaging	Het
Msh2	C	A	17: 87,723,413 (GRCm38)	A906E	probably benign	Het
Mybph	A	T	1: 134,198,495 (GRCm38)	E349V	probably damaging	Het
Myh7b	C	A	2: 155,633,989 (GRCm38)	L1935M	probably benign	Het
Myh9	T	C	15: 77,769,253 (GRCm38)	E1348G	probably damaging	Het
Myzap	A	G	9: 71,548,755 (GRCm38)	S328P	probably damaging	Het
Nbeal1	T	C	1: 60,253,375 (GRCm38)	L1062P	probably damaging	Het
Nepro	G	A	16: 44,734,797 (GRCm38)	S412N	probably null	Het
Nr1h3	A	G	2: 91,190,218 (GRCm38)	F257L	probably benign	Het
Nudt5	T	C	2: 5,864,428 (GRCm38)	V155A	probably benign	Het
Ofcc1	G	A	13: 40,015,388 (GRCm38)	T841I	probably damaging	Het
Olfr522	A	G	7: 140,162,689 (GRCm38)	L87P	possibly damaging	Het
Olfr539	A	T	7: 140,667,589 (GRCm38)	I94F	probably damaging	Het
Olfr653	A	T	7: 104,580,215 (GRCm38)	I190L	probably benign	Het
Pde1a	T	A	2: 80,128,837 (GRCm38)		probably benign	Het
Pde4dip	T	A	3: 97,793,528 (GRCm38)	H220L	probably damaging	Het
Pde9a	T	A	17: 31,443,161 (GRCm38)		probably null	Het
Pnkp	C	A	7: 44,861,646 (GRCm38)		probably null	Het
Pnpla7	A	G	2: 24,980,052 (GRCm38)	T15A	probably benign	Het
Polq	G	T	16: 37,048,783 (GRCm38)		probably null	Het
Ppfia2	C	T	10: 106,854,957 (GRCm38)	T553I	probably benign	Het
Rhox3c	G	A	X: 37,470,424 (GRCm38)	A60T	probably damaging	Het
Rnf4	T	A	5: 34,348,709 (GRCm38)	V61E	probably damaging	Het
Rnf5	A	G	17: 34,602,003 (GRCm38)		probably benign	Het
Sardh	A	G	2: 27,191,955 (GRCm38)	V853A	probably benign	Het
Scfd1	T	C	12: 51,389,326 (GRCm38)	V86A	probably damaging	Het
Scube3	G	A	17: 28,164,123 (GRCm38)	C425Y	probably damaging	Het
Sema5a	C	T	15: 32,609,417 (GRCm38)	H490Y	probably benign	Het
Sfta2	T	C	17: 35,649,881 (GRCm38)		probably benign	Het
Sh3d19	T	C	3: 86,123,742 (GRCm38)	Y738H	probably damaging	Het
Shc2	T	C	10: 79,622,461 (GRCm38)	R463G	probably damaging	Het
Socs7	T	A	11: 97,377,003 (GRCm38)	I320N	possibly damaging	Het
Speer2	A	T	16: 69,858,100 (GRCm38)	M159K	probably benign	Het
Sppl2c	A	C	11: 104,187,652 (GRCm38)	H426P	probably benign	Het
Stag3	T	G	5: 138,309,365 (GRCm38)		probably null	Het
Stxbp5	C	A	10: 9,762,891 (GRCm38)	V1055L	probably benign	Het
Synpo	A	T	18: 60,603,612 (GRCm38)	S421T	probably damaging	Het
Taf6l	A	G	19: 8,782,406 (GRCm38)	V135A	possibly damaging	Het
Tas2r116	G	A	6: 132,855,697 (GRCm38)	S87N	probably benign	Het
Tomm6	T	C	17: 47,688,069 (GRCm38)		probably benign	Het
Trabd	T	C	15: 89,082,712 (GRCm38)	M113T	probably benign	Het
Trim58	G	A	11: 58,651,324 (GRCm38)	G370E	probably damaging	Het
Ttc41	C	T	10: 86,731,125 (GRCm38)	R552C	probably benign	Het
Vit	T	C	17: 78,601,879 (GRCm38)	S252P	probably benign	Het
Vma21-ps	T	A	4: 52,496,943 (GRCm38)	D101V	probably damaging	Het
Vmn1r173	A	T	7: 23,702,936 (GRCm38)	I199F	probably damaging	Het
Vmn2r114	T	A	17: 23,310,362 (GRCm38)	R255S	probably benign	Het
Vmn2r17	A	G	5: 109,434,380 (GRCm38)	N545S	probably damaging	Het
Zfp865	A	G	7: 5,031,641 (GRCm38)	Y875C	probably damaging	Het

Other mutations in Ptk6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Ptk6	APN	2	181,195,818 (GRCm38)	missense	probably benign	0.00
IGL01630:Ptk6	APN	2	181,197,066 (GRCm38)	missense	probably damaging	0.99
IGL01862:Ptk6	APN	2	181,199,640 (GRCm38)	missense	probably benign	0.00
IGL02231:Ptk6	APN	2	181,197,001 (GRCm38)	missense	probably damaging	1.00
IGL02965:Ptk6	APN	2	181,199,068 (GRCm38)	splice site	probably benign
R0115:Ptk6	UTSW	2	181,202,527 (GRCm38)	start gained	probably benign
R0139:Ptk6	UTSW	2	181,196,931 (GRCm38)	splice site	probably benign
R0245:Ptk6	UTSW	2	181,202,491 (GRCm38)	missense	probably benign
R0358:Ptk6	UTSW	2	181,198,522 (GRCm38)	missense	probably benign	0.01
R0416:Ptk6	UTSW	2	181,202,308 (GRCm38)	missense	possibly damaging	0.94
R0454:Ptk6	UTSW	2	181,202,282 (GRCm38)	missense	possibly damaging	0.86
R0470:Ptk6	UTSW	2	181,195,939 (GRCm38)	missense	probably benign
R0481:Ptk6	UTSW	2	181,202,527 (GRCm38)	start gained	probably benign
R1147:Ptk6	UTSW	2	181,195,797 (GRCm38)	missense	probably benign	0.23
R1147:Ptk6	UTSW	2	181,195,797 (GRCm38)	missense	probably benign	0.23
R1234:Ptk6	UTSW	2	181,202,440 (GRCm38)	missense	possibly damaging	0.94
R2249:Ptk6	UTSW	2	181,196,380 (GRCm38)	missense	probably benign	0.03
R5568:Ptk6	UTSW	2	181,199,695 (GRCm38)	missense	possibly damaging	0.47
R5806:Ptk6	UTSW	2	181,199,730 (GRCm38)	missense	possibly damaging	0.95
R6017:Ptk6	UTSW	2	181,195,812 (GRCm38)	missense	probably benign	0.32
R6285:Ptk6	UTSW	2	181,197,093 (GRCm38)	missense	probably null	1.00
R6293:Ptk6	UTSW	2	181,198,460 (GRCm38)	missense	probably damaging	1.00
R6468:Ptk6	UTSW	2	181,199,102 (GRCm38)	missense	probably benign
R7369:Ptk6	UTSW	2	181,198,461 (GRCm38)	missense	possibly damaging	0.86
R8256:Ptk6	UTSW	2	181,195,840 (GRCm38)	nonsense	probably null
R9335:Ptk6	UTSW	2	181,202,353 (GRCm38)	missense	probably damaging	1.00
R9439:Ptk6	UTSW	2	181,198,413 (GRCm38)	missense	possibly damaging	0.75
R9500:Ptk6	UTSW	2	181,195,773 (GRCm38)	missense	probably benign	0.07
X0062:Ptk6	UTSW	2	181,202,323 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTATGAACAAGGCTGTGGCTG -3'
(R):5'- TAGCCACAGTAAATGAGGACTG -3'

Sequencing Primer
(F):5'- GCTGTATAGATAAAGCCATCTTGC -3'
(R):5'- CCACAGTAAATGAGGACTGGTCTCTG -3'

Posted On

2016-03-01