Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02058:Pak1'

185282

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pak1

Ensembl Gene

ENSMUSG00000030774

Gene Name

p21 (RAC1) activated kinase 1

Synonyms

Paka, PAK-1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02058

Quality Score

Status

Chromosome

Chromosomal Location

97788541-97912381 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 97911115 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 523 (A523V)

Ref Sequence

ENSEMBL: ENSMUSP00000146055 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033040] [ENSMUST00000156637] [ENSMUST00000206984]

Predicted Effect

probably damaging
Transcript: ENSMUST00000033040
AA Change: A523V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000033040
Gene: ENSMUSG00000030774
AA Change: A523V

Domain	Start	End	E-Value	Type
low complexity region	39	51	N/A	INTRINSIC
PBD	75	110	3.92e-16	SMART
low complexity region	168	191	N/A	INTRINSIC
S_TKc	269	520	7.19e-98	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156637

SMART Domains

Protein: ENSMUSP00000138684
Gene: ENSMUSG00000030774

Domain	Start	End	E-Value	Type
low complexity region	39	51	N/A	INTRINSIC
PBD	75	110	3.92e-16	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000206984
AA Change: A523V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207017

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a family member of serine/threonine p21-activating kinases, known as PAK proteins. These proteins are critical effectors that link RhoGTPases to cytoskeleton reorganization and nuclear signaling, and they serve as targets for the small GTP binding proteins Cdc42 and Rac. This specific family member regulates cell motility and morphology. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-out allele display defects in allergen-induced mast cell migration and degranulation. Mice homozygous for a different knock-out allele exhibit reduced long term potentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	A	2: 69,243,498	A1228S	probably damaging	Het
Adamts12	G	A	15: 11,215,610	R239K	probably benign	Het
Akap6	A	G	12: 53,140,555	D1584G	probably damaging	Het
Asns	A	G	6: 7,685,184	C158R	probably damaging	Het
Atr	T	C	9: 95,871,487	L714P	probably damaging	Het
Ccdc126	G	T	6: 49,334,200	E47D	probably benign	Het
Cemip	T	C	7: 83,997,292	S183G	probably damaging	Het
Cntn3	A	G	6: 102,199,360		probably benign	Het
Cyp11b2	G	T	15: 74,853,189	N270K	probably benign	Het
D230025D16Rik	T	A	8: 105,239,709	I105N	probably damaging	Het
Ephx2	A	G	14: 66,103,724		probably null	Het
Fcho2	G	A	13: 98,730,906	T683I	probably damaging	Het
Grm7	G	A	6: 111,358,317	C563Y	probably damaging	Het
Hmcn1	T	C	1: 150,704,181	N1935S	probably benign	Het
Hus1b	A	G	13: 30,946,917	L253S	probably benign	Het
Kmt5b	T	C	19: 3,793,181	Y93H	probably damaging	Het
Krt73	A	T	15: 101,802,021	S93T	probably benign	Het
Lrp8	T	C	4: 107,870,109	V917A	probably benign	Het
Map2k6	C	T	11: 110,492,583	T106M	probably damaging	Het
Ncor1	A	G	11: 62,344,637	S664P	probably damaging	Het
Nmt1	C	T	11: 103,052,290	T157I	probably benign	Het
Nup160	T	C	2: 90,729,707	S1259P	probably damaging	Het
Parpbp	A	C	10: 88,144,036	S19R	probably benign	Het
Pdzd2	G	T	15: 12,376,296	T1251N	possibly damaging	Het
Pitpnm3	A	T	11: 72,120,139	N22K	probably benign	Het
Pkn1	G	T	8: 83,681,225	C418*	probably null	Het
Pkn2	A	G	3: 142,803,663	F723L	probably damaging	Het
Pkp4	C	T	2: 59,311,729	R459*	probably null	Het
Prex1	A	C	2: 166,585,183	S871A	probably benign	Het
Ptprz1	A	G	6: 23,002,503	T1531A	probably benign	Het
Rad1	C	A	15: 10,493,275	Q263K	probably benign	Het
Sh2d6	C	A	6: 72,513,978	G307*	probably null	Het
Slc52a3	T	A	2: 152,005,891	N306K	probably damaging	Het
Spock3	A	T	8: 63,245,198	R195*	probably null	Het
Stil	A	G	4: 115,014,162	S310G	probably benign	Het
Wbp1l	T	A	19: 46,652,520	C80*	probably null	Het
Wnt2b	A	G	3: 104,947,092	V350A	probably benign	Het

Other mutations in Pak1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Pak1	APN	7	97854568	missense	probably benign	0.03
IGL01676:Pak1	APN	7	97883531	missense	probably benign	0.00
IGL02557:Pak1	APN	7	97871587	missense	probably benign	0.08
IGL02678:Pak1	APN	7	97894002	missense	probably damaging	0.99
R1739:Pak1	UTSW	7	97904695	missense	probably damaging	1.00
R1874:Pak1	UTSW	7	97871580	missense	probably benign	0.23
R2057:Pak1	UTSW	7	97907797	splice site	probably null
R2363:Pak1	UTSW	7	97886314	missense	probably benign	0.01
R2420:Pak1	UTSW	7	97854479	missense	probably benign	0.02
R2880:Pak1	UTSW	7	97904811	missense	probably damaging	1.00
R3113:Pak1	UTSW	7	97866114	nonsense	probably null
R3722:Pak1	UTSW	7	97854497	missense	probably damaging	1.00
R4363:Pak1	UTSW	7	97883586	missense	possibly damaging	0.49
R6021:Pak1	UTSW	7	97854463	missense	probably damaging	1.00
R6459:Pak1	UTSW	7	97907881	missense	probably benign	0.04
R6820:Pak1	UTSW	7	97886379	missense	probably benign
R7336:Pak1	UTSW	7	97888972	missense	probably benign	0.13
R7717:Pak1	UTSW	7	97886348	missense	probably benign	0.00
R8033:Pak1	UTSW	7	97886383	missense	probably benign
X0027:Pak1	UTSW	7	97904752	missense	probably damaging	0.99
Z1177:Pak1	UTSW	7	97865494	missense	probably benign	0.01

Posted On

2014-05-07