Mutagenetix > Incidental Mutation

Incidental Mutation 'R3113:Pak1'

263876

Institutional Source

Beutler Lab

Gene Symbol

Pak1

Ensembl Gene

ENSMUSG00000030774

Gene Name

p21 (RAC1) activated kinase 1

Synonyms

Paka, PAK-1

MMRRC Submission

040586-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3113 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97437748-97561588 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 97515321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 115 (S115*)

Ref Sequence

ENSEMBL: ENSMUSP00000146055 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033040] [ENSMUST00000156637] [ENSMUST00000206351] [ENSMUST00000206984]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000033040
AA Change: S115*

SMART Domains

Protein: ENSMUSP00000033040
Gene: ENSMUSG00000030774
AA Change: S115*

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 null
Transcript: ENSMUST00000156637
AA Change: S115*

SMART Domains

Protein: ENSMUSP00000138684
Gene: ENSMUSG00000030774
AA Change: S115*

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

Predicted Effect

probably null
Transcript: ENSMUST00000206351
AA Change: S115*

Predicted Effect

probably null
Transcript: ENSMUST00000206984
AA Change: S115*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (59/59)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,100,372 (GRCm39)	Y248*	probably null	Het
Acta2	T	C	19: 34,220,752 (GRCm39)	I319V	probably benign	Het
Alox15	A	T	11: 70,235,703 (GRCm39)	N585K	probably benign	Het
Ank	T	A	15: 27,571,700 (GRCm39)	I324N	probably damaging	Het
Ank1	A	G	8: 23,574,813 (GRCm39)	N99D	probably damaging	Het
As3mt	T	C	19: 46,703,717 (GRCm39)		probably benign	Het
Atg4b	C	T	1: 93,703,426 (GRCm39)		probably benign	Het
Atp2a1	A	T	7: 126,047,541 (GRCm39)	V705D	probably damaging	Het
Bves	T	C	10: 45,219,148 (GRCm39)	V82A	probably benign	Het
Cad	C	A	5: 31,231,481 (GRCm39)	H7Q	possibly damaging	Het
Carmil1	A	G	13: 24,253,740 (GRCm39)	V387A	probably benign	Het
Csnk2a1	T	A	2: 152,105,134 (GRCm39)	F181Y	probably damaging	Het
Cwc22	A	T	2: 77,754,823 (GRCm39)		probably benign	Het
Ddx18	A	G	1: 121,493,877 (GRCm39)	S36P	possibly damaging	Het
Dnai2	T	A	11: 114,642,756 (GRCm39)		probably null	Het
Ehbp1l1	A	T	19: 5,769,008 (GRCm39)	M765K	probably benign	Het
Fitm2	T	C	2: 163,311,511 (GRCm39)	Y234C	probably damaging	Het
Flrt3	T	C	2: 140,503,454 (GRCm39)	E58G	probably benign	Het
Foxs1	A	G	2: 152,774,156 (GRCm39)	V299A	probably benign	Het
Galnt12	A	G	4: 47,108,415 (GRCm39)	N184S	probably benign	Het
Gata6	T	C	18: 11,063,124 (GRCm39)	L464P	probably damaging	Het
Gm17332	T	C	11: 31,132,384 (GRCm39)	T27A	possibly damaging	Het
Ifna11	A	C	4: 88,738,220 (GRCm39)	M9L	probably benign	Het
Ldb3	T	A	14: 34,251,418 (GRCm39)	*623L	probably null	Het
Lrrc27	A	G	7: 138,798,223 (GRCm39)	D106G	probably damaging	Het
Ly6f	A	G	15: 75,143,577 (GRCm39)	N95D	probably benign	Het
Lyst	A	G	13: 13,844,512 (GRCm39)	I1901V	probably benign	Het
Mboat2	A	G	12: 24,932,718 (GRCm39)	Y70C	probably damaging	Het
Mmut	G	A	17: 41,269,247 (GRCm39)	G610D	probably damaging	Het
Mroh1	T	A	15: 76,292,736 (GRCm39)		probably benign	Het
Muc5b	A	G	7: 141,399,871 (GRCm39)	H448R	unknown	Het
Myh2	A	G	11: 67,076,012 (GRCm39)	N733S	probably damaging	Het
Nid2	G	A	14: 19,828,111 (GRCm39)	G516S	probably benign	Het
Nlrp1a	A	T	11: 71,014,491 (GRCm39)	I253N	probably damaging	Het
Ocrl	A	G	X: 47,022,304 (GRCm39)	E258G	probably benign	Het
Or2w1	T	A	13: 21,317,299 (GRCm39)	M118K	probably damaging	Het
Or6c2	A	T	10: 129,363,012 (GRCm39)	R305S	probably benign	Het
Pilrb1	C	T	5: 137,853,195 (GRCm39)	V203I	possibly damaging	Het
Ppfia2	T	A	10: 106,742,256 (GRCm39)	Y1016*	probably null	Het
Prmt3	C	A	7: 49,431,760 (GRCm39)	P121Q	probably damaging	Het
Rhox6	T	A	X: 36,916,507 (GRCm39)	I116N	possibly damaging	Het
Saxo2	A	C	7: 82,292,949 (GRCm39)	F49L	probably benign	Het
Scn2a	A	C	2: 65,579,129 (GRCm39)	D1488A	possibly damaging	Het
Scn5a	T	A	9: 119,314,738 (GRCm39)	D1989V	probably damaging	Het
Sec31b	C	A	19: 44,506,624 (GRCm39)	E905*	probably null	Het
Secisbp2l	A	T	2: 125,592,206 (GRCm39)	F672I	probably damaging	Het
Slc22a23	C	T	13: 34,367,058 (GRCm39)	G650E	probably damaging	Het
Smu1	A	G	4: 40,748,658 (GRCm39)	F211L	probably benign	Het
Spef1l	G	T	7: 139,555,878 (GRCm39)		probably benign	Het
Tab1	C	T	15: 80,032,461 (GRCm39)	L23F	probably benign	Het
Thsd7b	G	A	1: 129,977,599 (GRCm39)	C1078Y	probably benign	Het
Ttn	A	T	2: 76,644,542 (GRCm39)	Y13071N	probably damaging	Het
Usp17ld	A	G	7: 102,899,870 (GRCm39)	V354A	probably benign	Het
Usp31	A	G	7: 121,278,736 (GRCm39)	S210P	probably damaging	Het
Wdr12	T	C	1: 60,126,221 (GRCm39)	D198G	probably benign	Het
Wrap53	A	G	11: 69,454,144 (GRCm39)	V298A	probably benign	Het
Xirp2	A	G	2: 67,340,491 (GRCm39)	I911V	probably benign	Het
Zcchc2	T	C	1: 105,918,752 (GRCm39)	M78T	unknown	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
IGL02678:Pak1	APN	7	97,543,209 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- GCAGACCTCTGAAGGAAGAC -3'
(R):5'- ATCTTAGCGACCGTGCCATC -3'

Sequencing Primer
(F):5'- CCTCTGAAGGAAGACACATAAAAG -3'
(R):5'- ACCGTGCCATCACACTGG -3'

Posted On

2015-02-05