Mutagenetix > Incidental Mutation

Incidental Mutation 'R7236:Pak6'

562803

Institutional Source

Beutler Lab

Gene Symbol

Pak6

Ensembl Gene

ENSMUSG00000074923

Gene Name

p21 (RAC1) activated kinase 6

Synonyms

MMRRC Submission

045306-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7236 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118493784-118528501 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118523909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 355 (T355A)

Ref Sequence

ENSEMBL: ENSMUSP00000097153 (fasta)

Gene Model

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

AlphaFold

Q3ULB5

Predicted Effect

probably benign
Transcript: ENSMUST00000099557
AA Change: T355A

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000097153
Gene: ENSMUSG00000074923
AA Change: T355A

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: ENSMUST00000110853
AA Change: T355A

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106477
Gene: ENSMUSG00000074923
AA Change: T355A

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

Meta Mutation Damage Score

0.0583

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn3	C	T	19: 4,921,644 (GRCm39)	V179I	probably benign	Het
Adra1b	A	G	11: 43,667,151 (GRCm39)	I362T	possibly damaging	Het
B3galnt1	T	C	3: 69,482,950 (GRCm39)	K104E	probably benign	Het
Bnc2	T	C	4: 84,474,101 (GRCm39)	Y15C	probably benign	Het
C2cd2l	C	A	9: 44,228,960 (GRCm39)	A124S	possibly damaging	Het
Camsap3	T	A	8: 3,654,116 (GRCm39)	F595L	probably damaging	Het
Cct2	A	T	10: 116,897,464 (GRCm39)	D93E	probably benign	Het
Cd200l2	A	T	16: 45,348,030 (GRCm39)	I169N	possibly damaging	Het
Cemip	A	T	7: 83,598,012 (GRCm39)		probably null	Het
Ciapin1	T	C	8: 95,550,338 (GRCm39)	T34A		Het
Dop1a	G	A	9: 86,397,431 (GRCm39)	V912I	probably damaging	Het
Efcab3	A	T	11: 104,790,093 (GRCm39)	Q2832L	probably benign	Het
Eif3c	T	C	7: 126,151,495 (GRCm39)	T610A	possibly damaging	Het
Ephb3	A	G	16: 21,033,231 (GRCm39)	R106G	probably damaging	Het
Ephx3	T	A	17: 32,404,328 (GRCm39)		probably null	Het
Etv2	A	T	7: 30,334,455 (GRCm39)	S93T	probably benign	Het
Fbxo34	T	A	14: 47,767,841 (GRCm39)	D451E	probably benign	Het
Fmo9	A	G	1: 166,504,140 (GRCm39)	F141L	probably damaging	Het
Fryl	T	C	5: 73,265,821 (GRCm39)	K500R	possibly damaging	Het
Gfra3	T	C	18: 34,828,884 (GRCm39)	D170G	probably damaging	Het
Gnptg	T	C	17: 25,458,897 (GRCm39)	N34S	possibly damaging	Het
Golga5	T	A	12: 102,441,034 (GRCm39)		probably null	Het
Herc2	G	T	7: 55,734,828 (GRCm39)	L139F	probably benign	Het
Ikzf2	T	A	1: 69,578,240 (GRCm39)	N423I	probably benign	Het
Il31ra	A	T	13: 112,660,439 (GRCm39)	*717R	probably null	Het
Itga2	G	T	13: 115,014,227 (GRCm39)	Q234K	probably benign	Het
Kcnt1	A	T	2: 25,799,951 (GRCm39)		probably null	Het
Kif19b	G	T	5: 140,457,400 (GRCm39)	A390S	probably benign	Het
Man2a2	T	C	7: 80,018,653 (GRCm39)	S69G	probably damaging	Het
Mccc1	A	G	3: 36,037,944 (GRCm39)	V294A	probably benign	Het
Mphosph8	T	A	14: 56,911,754 (GRCm39)	I259K	possibly damaging	Het
Mrpl15	A	T	1: 4,846,711 (GRCm39)	N288K	probably benign	Het
Msantd2	T	C	9: 37,400,965 (GRCm39)	W116R	probably damaging	Het
Msantd5f9	G	T	4: 73,835,808 (GRCm39)	L219M	probably benign	Het
Mtmr10	T	C	7: 63,963,932 (GRCm39)		probably benign	Het
Mylk	A	T	16: 34,742,899 (GRCm39)	D1137V	probably damaging	Het
Nhsl1	A	G	10: 18,401,512 (GRCm39)	K879E	probably damaging	Het
Or8j3c	A	T	2: 86,253,533 (GRCm39)	C162*	probably null	Het
Patj	C	T	4: 98,299,294 (GRCm39)	R139C	probably damaging	Het
Pcdhb3	C	T	18: 37,434,505 (GRCm39)	A157V	probably damaging	Het
Phkg1	C	A	5: 129,895,802 (GRCm39)	D150Y	probably damaging	Het
Ppp2r5c	C	T	12: 110,432,323 (GRCm39)	S45L	probably benign	Het
Prl4a1	A	C	13: 28,202,556 (GRCm39)	T44P	probably benign	Het
Ptpro	G	A	6: 137,345,335 (GRCm39)	V114M	probably damaging	Het
Pwp1	A	G	10: 85,715,147 (GRCm39)	N211S	probably benign	Het
Ralgapb	A	G	2: 158,282,747 (GRCm39)	D504G	probably benign	Het
Rock2	A	T	12: 16,979,003 (GRCm39)	I98F	probably damaging	Het
Senp6	G	T	9: 80,040,247 (GRCm39)	V785L	probably damaging	Het
Simc1	A	G	13: 54,672,609 (GRCm39)	D319G	probably benign	Het
Tas2r105	A	T	6: 131,663,723 (GRCm39)	I235N	probably damaging	Het
Tas2r110	A	T	6: 132,845,667 (GRCm39)	M233L	possibly damaging	Het
Tmem260	C	T	14: 48,746,647 (GRCm39)		probably null	Het
Trank1	G	T	9: 111,202,142 (GRCm39)	V1590L	possibly damaging	Het
Tsc2	A	T	17: 24,842,568 (GRCm39)	M286K	possibly damaging	Het
Ttn	T	C	2: 76,697,796 (GRCm39)	T202A		Het
Ttyh1	A	G	7: 4,136,663 (GRCm39)	N424D	probably benign	Het
Usp24	T	A	4: 106,263,502 (GRCm39)		probably null	Het
Utp20	G	T	10: 88,585,204 (GRCm39)	P2620Q	probably benign	Het
Vmn1r45	A	G	6: 89,910,133 (GRCm39)	M279T	probably benign	Het
Vmn2r115	T	A	17: 23,578,576 (GRCm39)	I683K	probably benign	Het
Vmn2r34	T	C	7: 7,684,750 (GRCm39)	K481E	probably damaging	Het
Vmn2r54	T	A	7: 12,365,917 (GRCm39)	H339L	possibly damaging	Het
Vmn2r94	T	A	17: 18,477,811 (GRCm39)	N200I	possibly damaging	Het
Wdfy3	A	G	5: 101,984,074 (GRCm39)	Y3493H	probably damaging	Het
Wdr5b	A	G	16: 35,862,208 (GRCm39)	D109G	possibly damaging	Het
Zfp286	A	T	11: 62,674,496 (GRCm39)		probably null	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
R4589:Pak6	UTSW	2	118,527,021 (GRCm39)	missense	probably damaging	1.00
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
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'- ACTCCTCTTCAAACCTGGTAGC -3'
(R):5'- ATCTTGACTGCTACCTGGCG -3'

Sequencing Primer
(F):5'- TCTTCAAACCTGGTAGCCAAGG -3'
(R):5'- ACACAATGCCCGTGGAG -3'

Posted On

2019-06-26