Mutagenetix > Incidental Mutation

Incidental Mutation 'R4589:Pak6'

342655

Institutional Source

Beutler Lab

Gene Symbol

Pak6

Ensembl Gene

ENSMUSG00000074923

Gene Name

p21 (RAC1) activated kinase 6

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4589 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118493784-118528501 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118527021 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 672 (I672K)

Ref Sequence

ENSEMBL: ENSMUSP00000106477 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099557] [ENSMUST00000104937] [ENSMUST00000110853]

AlphaFold

Q3ULB5

Predicted Effect

probably damaging
Transcript: ENSMUST00000099557
AA Change: I672K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097153
Gene: ENSMUSG00000074923
AA Change: I672K

Domain	Start	End	E-Value	Type
PBD	12	47	4.47e-11	SMART
S_TKc	408	659	2.38e-89	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000104937

SMART Domains

Protein: ENSMUSP00000100542
Gene: ENSMUSG00000078137

Domain	Start	End	E-Value	Type
ANK	46	79	1.87e0	SMART
ANK	83	112	3.23e-4	SMART
ANK	116	145	3.44e1	SMART
low complexity region	193	247	N/A	INTRINSIC
low complexity region	331	341	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110853
AA Change: I672K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106477
Gene: ENSMUSG00000074923
AA Change: I672K

Domain	Start	End	E-Value	Type
PBD	12	47	4.47e-11	SMART
S_TKc	408	659	2.38e-89	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132577

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of p21-stimulated serine/threonine protein kinases, which contain an amino-terminal Cdc42/Rac interactive binding (CRIB) domain and a carboxyl-terminal kinase domain. These kinases function in a number of cellular processes, including cytoskeleton rearrangement, apoptosis, and the mitogen-activated protein (MAP) kinase signaling pathway. The protein encoded by this gene interacts with androgen receptor (AR) and translocates to the nucleus, where it is involved in transcriptional regulation. Changes in expression of this gene have been linked to prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a null allele do not exhibit any abnormal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	G	T	16: 14,211,895 (GRCm39)	V157L	probably benign	Het
Actn1	G	A	12: 80,218,573 (GRCm39)	T737I	possibly damaging	Het
Ada	T	C	2: 163,574,868 (GRCm39)	K90E	possibly damaging	Het
Ap2b1	T	A	11: 83,223,837 (GRCm39)	L184*	probably null	Het
Arfgef3	T	C	10: 18,521,947 (GRCm39)	D693G	probably damaging	Het
Arid4a	A	T	12: 71,116,738 (GRCm39)	I277F	probably damaging	Het
Armh4	A	G	14: 50,011,039 (GRCm39)	S223P	probably damaging	Het
Ccdc171	A	G	4: 83,467,855 (GRCm39)	S67G	probably benign	Het
Ccr5	T	A	9: 123,924,539 (GRCm39)	F47L	probably benign	Het
Clip4	T	A	17: 72,117,862 (GRCm39)	C302*	probably null	Het
Cyth1	C	T	11: 118,075,811 (GRCm39)	V142I	possibly damaging	Het
Ddx59	T	A	1: 136,367,480 (GRCm39)		probably null	Het
Def6	G	T	17: 28,447,121 (GRCm39)	R584L	probably benign	Het
Dnah7c	C	A	1: 46,553,743 (GRCm39)	Y340*	probably null	Het
Eif2ak4	T	G	2: 118,247,819 (GRCm39)	C173W	probably damaging	Het
Gm14403	C	T	2: 177,200,428 (GRCm39)	H125Y	probably benign	Het
Grk3	T	C	5: 113,089,584 (GRCm39)	I323V	possibly damaging	Het
Homez	G	T	14: 55,094,487 (GRCm39)	T407K	probably damaging	Het
Igdcc4	A	G	9: 65,037,910 (GRCm39)	T763A	probably damaging	Het
Ighg2b	A	T	12: 113,270,104 (GRCm39)	W305R	unknown	Het
Il27ra	G	T	8: 84,763,038 (GRCm39)	N296K	probably damaging	Het
Lzic	G	T	4: 149,572,561 (GRCm39)	L50F	probably damaging	Het
Mbtd1	T	C	11: 93,812,245 (GRCm39)	V183A	probably damaging	Het
Mme	T	A	3: 63,287,693 (GRCm39)	D731E	probably benign	Het
Mocos	T	C	18: 24,787,095 (GRCm39)	L38P	probably damaging	Het
Mrps18a	T	C	17: 46,428,899 (GRCm39)		probably null	Het
Msh2	T	A	17: 87,987,460 (GRCm39)	V200D	possibly damaging	Het
Mug1	A	T	6: 121,834,310 (GRCm39)	I364F	probably benign	Het
Mycbp2	G	T	14: 103,414,749 (GRCm39)	S2554R	probably benign	Het
Nat10	A	G	2: 103,584,415 (GRCm39)	C121R	probably damaging	Het
Nfatc3	T	A	8: 106,805,705 (GRCm39)	D183E	probably damaging	Het
Odr4	C	T	1: 150,260,238 (GRCm39)	V127I	probably benign	Het
Or4d10c	T	C	19: 12,065,305 (GRCm39)	I284V	possibly damaging	Het
Or51ac3	A	T	7: 103,213,639 (GRCm39)	F282L	probably damaging	Het
Or52h1	C	A	7: 103,828,636 (GRCm39)		probably null	Het
Or5d14	T	C	2: 87,880,823 (GRCm39)	I48M	probably benign	Het
Pan3	A	T	5: 147,479,983 (GRCm39)	I830F	probably damaging	Het
Pcdh9	A	T	14: 94,125,628 (GRCm39)	L181I	probably damaging	Het
Pigg	G	A	5: 108,480,556 (GRCm39)	A447T	probably benign	Het
Pitpnb	T	A	5: 111,519,214 (GRCm39)	S165T	probably damaging	Het
Pla2g2a	A	G	4: 138,560,590 (GRCm39)	Y67C	probably damaging	Het
Plch1	A	G	3: 63,688,928 (GRCm39)	I80T	probably damaging	Het
Pnma1	A	G	12: 84,194,235 (GRCm39)	I156T	probably benign	Het
Prss21	G	T	17: 24,091,796 (GRCm39)	D255Y	possibly damaging	Het
Prune1	T	A	3: 95,169,642 (GRCm39)	I187F	possibly damaging	Het
Rab7b	T	C	1: 131,633,385 (GRCm39)	F78L	probably benign	Het
Riok3	T	A	18: 12,269,844 (GRCm39)	Y92N	probably benign	Het
Rpap2	T	C	5: 107,768,361 (GRCm39)	S400P	probably benign	Het
Ryr3	C	A	2: 112,705,478 (GRCm39)	G792V	probably damaging	Het
Septin3	A	G	15: 82,170,092 (GRCm39)	E206G	probably damaging	Het
Stkld1	T	C	2: 26,840,679 (GRCm39)	S454P	probably damaging	Het
Tdh	A	T	14: 63,733,326 (GRCm39)	L140Q	probably damaging	Het
Tex15	T	A	8: 34,047,401 (GRCm39)	H159Q	probably damaging	Het
Tmed6	C	T	8: 107,790,793 (GRCm39)	V85I	probably benign	Het
Vmn1r174	T	A	7: 23,454,204 (GRCm39)	L290*	probably null	Het
Vmn1r31	A	G	6: 58,449,596 (GRCm39)	S90P	probably damaging	Het
Vmn2r55	T	C	7: 12,404,822 (GRCm39)	T194A	probably damaging	Het
Vmn2r82	A	T	10: 79,192,548 (GRCm39)	I42F	probably damaging	Het
Vps35	G	A	8: 86,014,331 (GRCm39)	P106L	probably damaging	Het
Xrcc6	T	A	15: 81,906,661 (GRCm39)	Y69N	probably damaging	Het
Zbtb14	C	T	17: 69,695,465 (GRCm39)	P388S	probably damaging	Het
Zfp541	C	T	7: 15,817,261 (GRCm39)	A902V	probably benign	Het

Other mutations in Pak6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Pak6	APN	2	118,520,326 (GRCm39)	missense	possibly damaging	0.58
IGL00979:Pak6	APN	2	118,526,963 (GRCm39)	missense	probably damaging	1.00
IGL01577:Pak6	APN	2	118,524,129 (GRCm39)	missense	probably benign	0.00
IGL01928:Pak6	APN	2	118,520,345 (GRCm39)	missense	probably damaging	1.00
IGL01951:Pak6	APN	2	118,523,741 (GRCm39)	missense	probably benign
IGL02387:Pak6	APN	2	118,523,714 (GRCm39)	missense	probably benign
IGL03302:Pak6	APN	2	118,523,784 (GRCm39)	missense	probably benign
bedamned	UTSW	2	118,524,488 (GRCm39)	splice site	probably benign
bequeathed	UTSW	2	118,524,003 (GRCm39)	missense	probably damaging	0.96
R0126:Pak6	UTSW	2	118,520,813 (GRCm39)	missense	possibly damaging	0.86
R0883:Pak6	UTSW	2	118,524,168 (GRCm39)	missense	probably damaging	1.00
R1128:Pak6	UTSW	2	118,526,990 (GRCm39)	missense	probably benign	0.00
R2073:Pak6	UTSW	2	118,519,332 (GRCm39)	missense	probably damaging	1.00
R2508:Pak6	UTSW	2	118,525,050 (GRCm39)	nonsense	probably null
R2920:Pak6	UTSW	2	118,524,488 (GRCm39)	splice site	probably benign
R3118:Pak6	UTSW	2	118,520,222 (GRCm39)	missense	probably damaging	1.00
R3689:Pak6	UTSW	2	118,523,921 (GRCm39)	nonsense	probably null
R3762:Pak6	UTSW	2	118,526,958 (GRCm39)	missense	probably damaging	0.99
R4976:Pak6	UTSW	2	118,525,029 (GRCm39)	missense	probably damaging	1.00
R5119:Pak6	UTSW	2	118,525,029 (GRCm39)	missense	probably damaging	1.00
R5206:Pak6	UTSW	2	118,523,784 (GRCm39)	missense	probably benign
R5683:Pak6	UTSW	2	118,524,393 (GRCm39)	missense	probably damaging	1.00
R7232:Pak6	UTSW	2	118,524,003 (GRCm39)	missense	probably damaging	0.96
R7236:Pak6	UTSW	2	118,523,909 (GRCm39)	missense	probably benign	0.26
R7292:Pak6	UTSW	2	118,524,072 (GRCm39)	missense	possibly damaging	0.95
R7623:Pak6	UTSW	2	118,525,068 (GRCm39)	missense	probably damaging	1.00
R7823:Pak6	UTSW	2	118,525,793 (GRCm39)	missense	probably benign	0.02
R8190:Pak6	UTSW	2	118,520,578 (GRCm39)	nonsense	probably null
R8374:Pak6	UTSW	2	118,524,477 (GRCm39)	missense	probably benign	0.02
R8515:Pak6	UTSW	2	118,520,478 (GRCm39)	missense	probably benign	0.10
R9290:Pak6	UTSW	2	118,523,883 (GRCm39)	missense	probably damaging	1.00
R9689:Pak6	UTSW	2	118,520,243 (GRCm39)	missense	probably benign
R9768:Pak6	UTSW	2	118,520,396 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAAGTGACTGCGAGCCATG -3'
(R):5'- CTCTGGGGAGTGAAACCAAG -3'

Sequencing Primer
(F):5'- GCCATGGCTTCCCCTCAC -3'
(R):5'- CCCAGCGGGCAAAAGGG -3'

Posted On

2015-09-24