Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02678:Pak1'

303230

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02678

Quality Score

Status

Chromosome

Chromosomal Location

97437748-97561588 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 97543209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 291 (T291P)

Ref Sequence

ENSEMBL: ENSMUSP00000146055 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000033040
AA Change: T291P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000033040
Gene: ENSMUSG00000030774
AA Change: T291P

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

unknown
Transcript: ENSMUST00000156637
AA Change: H172P

SMART Domains

Protein: ENSMUSP00000138684
Gene: ENSMUSG00000030774
AA Change: H172P

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: T291P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,035,867 (GRCm39)		probably benign	Het
Adgrb1	A	G	15: 74,410,177 (GRCm39)	E272G	probably damaging	Het
Alcam	G	A	16: 52,094,401 (GRCm39)	P416S	probably damaging	Het
B3galt1	A	G	2: 67,949,254 (GRCm39)	H323R	probably benign	Het
Bahcc1	G	A	11: 120,163,697 (GRCm39)	S665N	probably damaging	Het
Birc6	T	C	17: 74,956,898 (GRCm39)	S3631P	probably damaging	Het
Capn3	A	C	2: 120,333,479 (GRCm39)	N621T	probably damaging	Het
Cblif	T	C	19: 11,725,839 (GRCm39)	M43T	probably damaging	Het
Ccdc162	G	A	10: 41,437,151 (GRCm39)	H480Y	probably damaging	Het
Ccr2	T	A	9: 123,906,783 (GRCm39)	D354E	probably benign	Het
Cdc42bpb	T	G	12: 111,292,530 (GRCm39)	D335A	probably damaging	Het
Cdcp3	A	G	7: 130,830,646 (GRCm39)	Y360C	probably damaging	Het
Chrd	G	T	16: 20,552,770 (GRCm39)	R89L	probably damaging	Het
Cops2	T	C	2: 125,686,831 (GRCm39)	R91G	probably benign	Het
Ddi1	T	C	9: 6,266,106 (GRCm39)	T88A	probably benign	Het
Dnai1	A	C	4: 41,602,917 (GRCm39)	E140A	probably benign	Het
Eif1ad17	C	A	12: 87,978,946 (GRCm39)	P110Q	possibly damaging	Het
Gcn1	A	G	5: 115,751,814 (GRCm39)	D2063G	probably damaging	Het
Gdpd4	A	T	7: 97,623,584 (GRCm39)		probably benign	Het
Gng7	C	A	10: 80,787,518 (GRCm39)	L48F	probably damaging	Het
Htt	G	T	5: 35,057,246 (GRCm39)	C2725F	probably damaging	Het
Inpp4b	A	G	8: 82,583,373 (GRCm39)	K159R	probably damaging	Het
Insr	G	T	8: 3,223,570 (GRCm39)	N854K	probably benign	Het
Ktn1	A	T	14: 47,971,610 (GRCm39)		probably null	Het
Lcat	A	G	8: 106,668,572 (GRCm39)		probably null	Het
Mb21d2	T	C	16: 28,646,801 (GRCm39)	E391G	probably benign	Het
Mms19	A	G	19: 41,942,915 (GRCm39)	S354P	possibly damaging	Het
Mx2	G	A	16: 97,357,320 (GRCm39)		probably null	Het
Mycl	G	A	4: 122,893,776 (GRCm39)	R192Q	probably damaging	Het
Mzf1	A	G	7: 12,786,836 (GRCm39)	V78A	probably benign	Het
Nipbl	G	T	15: 8,380,594 (GRCm39)	P733T	possibly damaging	Het
Nploc4	A	G	11: 120,280,198 (GRCm39)	I450T	probably benign	Het
Omd	A	T	13: 49,745,757 (GRCm39)	E389V	probably benign	Het
Or8g30	C	T	9: 39,230,217 (GRCm39)	S231N	probably benign	Het
Oxgr1	A	G	14: 120,259,580 (GRCm39)	L209P	probably damaging	Het
Pcmtd1	T	A	1: 7,240,045 (GRCm39)	I338K	probably damaging	Het
Phrf1	A	G	7: 140,840,195 (GRCm39)	D364G	probably damaging	Het
Pomk	G	A	8: 26,473,135 (GRCm39)	P273S	probably damaging	Het
Psg22	A	T	7: 18,453,418 (GRCm39)	I38F	probably damaging	Het
Rbks	G	T	5: 31,830,757 (GRCm39)	T42N	probably damaging	Het
Rrbp1	A	G	2: 143,832,107 (GRCm39)	V20A	probably damaging	Het
Six4	T	C	12: 73,159,408 (GRCm39)	Y176C	probably damaging	Het
Slc11a2	T	A	15: 100,310,081 (GRCm39)	M9L	possibly damaging	Het
Slc16a11	T	C	11: 70,106,242 (GRCm39)	L112S	probably damaging	Het
Slc25a28	A	T	19: 43,655,586 (GRCm39)		probably benign	Het
Slc30a3	G	A	5: 31,245,676 (GRCm39)	R237*	probably null	Het
Slco1a8	A	T	6: 141,954,444 (GRCm39)	Y10N	probably damaging	Het
Smc1b	G	A	15: 84,949,201 (GRCm39)	R1237*	probably null	Het
Smtn	T	C	11: 3,476,353 (GRCm39)	E585G	possibly damaging	Het
Spatc1	A	T	15: 76,176,572 (GRCm39)	D441V	probably damaging	Het
Tenm4	A	G	7: 96,545,426 (GRCm39)	N2481D	probably damaging	Het
Tnks2	A	T	19: 36,823,143 (GRCm39)	I137F	possibly damaging	Het
Trip11	T	C	12: 101,849,649 (GRCm39)	K1472E	probably damaging	Het
Ttn	C	A	2: 76,708,660 (GRCm39)	E1846*	probably null	Het
Vwa8	A	G	14: 79,221,640 (GRCm39)	D532G	probably damaging	Het
Zfp268	A	T	4: 145,349,067 (GRCm39)	H168L	probably damaging	Het
Zfp977	G	A	7: 42,232,419 (GRCm39)	T14I	probably damaging	Het

Other mutations in Pak1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Pak1	APN	7	97,503,775 (GRCm39)	missense	probably benign	0.03
IGL01676:Pak1	APN	7	97,532,738 (GRCm39)	missense	probably benign	0.00
IGL02058:Pak1	APN	7	97,560,322 (GRCm39)	missense	probably damaging	1.00
IGL02557:Pak1	APN	7	97,520,794 (GRCm39)	missense	probably benign	0.08
R1739:Pak1	UTSW	7	97,553,902 (GRCm39)	missense	probably damaging	1.00
R1874:Pak1	UTSW	7	97,520,787 (GRCm39)	missense	probably benign	0.23
R2057:Pak1	UTSW	7	97,557,004 (GRCm39)	splice site	probably null
R2363:Pak1	UTSW	7	97,535,521 (GRCm39)	missense	probably benign	0.01
R2420:Pak1	UTSW	7	97,503,686 (GRCm39)	missense	probably benign	0.02
R2880:Pak1	UTSW	7	97,554,018 (GRCm39)	missense	probably damaging	1.00
R3113:Pak1	UTSW	7	97,515,321 (GRCm39)	nonsense	probably null
R3722:Pak1	UTSW	7	97,503,704 (GRCm39)	missense	probably damaging	1.00
R4363:Pak1	UTSW	7	97,532,793 (GRCm39)	missense	possibly damaging	0.49
R6021:Pak1	UTSW	7	97,503,670 (GRCm39)	missense	probably damaging	1.00
R6459:Pak1	UTSW	7	97,557,088 (GRCm39)	missense	probably benign	0.04
R6820:Pak1	UTSW	7	97,535,586 (GRCm39)	missense	probably benign
R7336:Pak1	UTSW	7	97,538,179 (GRCm39)	missense	probably benign	0.13
R7717:Pak1	UTSW	7	97,535,555 (GRCm39)	missense	probably benign	0.00
R8033:Pak1	UTSW	7	97,535,590 (GRCm39)	missense	probably benign
R8833:Pak1	UTSW	7	97,503,839 (GRCm39)	missense	possibly damaging	0.93
R9640:Pak1	UTSW	7	97,515,355 (GRCm39)	missense	probably benign	0.06
R9748:Pak1	UTSW	7	97,547,842 (GRCm39)	missense	possibly damaging	0.82
X0027:Pak1	UTSW	7	97,553,959 (GRCm39)	missense	probably damaging	0.99
Z1177:Pak1	UTSW	7	97,514,701 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16