Mutagenetix > Incidental Mutation

Incidental Mutation 'R6021:Pak1'

478942

Institutional Source

Beutler Lab

Gene Symbol

Pak1

Ensembl Gene

ENSMUSG00000030774

Gene Name

p21 (RAC1) activated kinase 1

Synonyms

Paka, PAK-1

MMRRC Submission

044194-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97437748-97561588 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97503670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 2 (S2P)

Ref Sequence

ENSEMBL: ENSMUSP00000138684 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000033040
AA Change: S2P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000033040
Gene: ENSMUSG00000030774
AA Change: S2P

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 damaging
Transcript: ENSMUST00000156637
AA Change: S2P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138684
Gene: ENSMUSG00000030774
AA Change: S2P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205757

Predicted Effect

probably damaging
Transcript: ENSMUST00000206351
AA Change: S2P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000206984
AA Change: S2P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Meta Mutation Damage Score

0.2257

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

94% (61/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427I04Rik	A	G	4: 123,754,509 (GRCm39)	D141G	possibly damaging	Het
A1bg	T	C	15: 60,791,713 (GRCm39)	E241G	possibly damaging	Het
Abca13	G	A	11: 9,240,465 (GRCm39)	W776*	probably null	Het
Akr1b10	T	A	6: 34,369,309 (GRCm39)		probably null	Het
Aopep	A	G	13: 63,208,896 (GRCm39)	T338A	probably damaging	Het
Atf7	T	C	15: 102,465,908 (GRCm39)	D84G	probably benign	Het
AW209491	C	T	13: 14,812,365 (GRCm39)	A406V	probably benign	Het
Azi2	T	A	9: 117,876,487 (GRCm39)	M1K	probably null	Het
Boc	T	A	16: 44,309,017 (GRCm39)	M832L	probably benign	Het
Brix1	C	T	15: 10,476,675 (GRCm39)	R267H	probably benign	Het
Cacna1s	T	C	1: 136,034,225 (GRCm39)	L1050P	probably benign	Het
Celsr2	G	T	3: 108,308,561 (GRCm39)	P1789T	probably benign	Het
Crebbp	G	A	16: 3,903,282 (GRCm39)	R1986C	probably damaging	Het
Crtam	T	A	9: 40,901,477 (GRCm39)	I150F	probably damaging	Het
Crybg1	G	T	10: 43,873,534 (GRCm39)	S1191R	probably damaging	Het
D630045J12Rik	T	C	6: 38,167,552 (GRCm39)	T1017A	probably benign	Het
Dnah10	A	G	5: 124,814,048 (GRCm39)	E396G	probably damaging	Het
Enpp5	A	T	17: 44,396,210 (GRCm39)	Y374F	probably benign	Het
Fzd4	G	A	7: 89,056,942 (GRCm39)	A330T	probably benign	Het
Gabra5	A	G	7: 57,157,740 (GRCm39)	S25P	probably benign	Het
Get1	T	C	16: 95,946,878 (GRCm39)		probably benign	Het
Ggps1	T	C	13: 14,228,589 (GRCm39)	Y198C	probably damaging	Het
Gm3173	A	C	14: 15,728,458 (GRCm39)	D39A	probably damaging	Het
Grm2	T	C	9: 106,527,999 (GRCm39)	D295G	probably damaging	Het
H2-T13	T	G	17: 36,392,166 (GRCm39)	E182A	probably damaging	Het
Igfbp5	A	G	1: 72,902,363 (GRCm39)	M208T	possibly damaging	Het
Ildr2	T	A	1: 166,131,173 (GRCm39)	M343K	possibly damaging	Het
Kif19b	A	T	5: 140,455,434 (GRCm39)	M347L	probably damaging	Het
Loxhd1	A	T	18: 77,499,946 (GRCm39)	D120V	probably damaging	Het
Lrp1	T	C	10: 127,413,883 (GRCm39)	D1175G	probably damaging	Het
Lrp1b	C	A	2: 41,234,439 (GRCm39)	D1171Y	probably benign	Het
Lrrc9	A	T	12: 72,516,005 (GRCm39)	I563F	probably damaging	Het
Ltbp3	A	T	19: 5,803,708 (GRCm39)	T798S	probably benign	Het
Msantd4	T	A	9: 4,384,063 (GRCm39)	V128E	probably benign	Het
Mtf2	A	G	5: 108,229,003 (GRCm39)	I69V	possibly damaging	Het
Myh10	T	A	11: 68,699,688 (GRCm39)	S1712T	possibly damaging	Het
Mylk3	A	G	8: 86,091,442 (GRCm39)	V121A	possibly damaging	Het
Ndufaf4	A	G	4: 24,901,760 (GRCm39)	N100D	probably benign	Het
Notch2	T	C	3: 98,029,288 (GRCm39)	F1017S	probably damaging	Het
Or4a27	G	T	2: 88,559,294 (GRCm39)	Y216*	probably null	Het
Or4a80	A	C	2: 89,582,465 (GRCm39)	S236A	probably benign	Het
Or4c108	G	T	2: 88,803,376 (GRCm39)	Y286*	probably null	Het
P2ry2	T	C	7: 100,647,607 (GRCm39)	T233A	probably benign	Het
Paip1	T	"TTA,TT"	13: 119,593,671 (GRCm39)		probably null	Het
Pde8b	A	T	13: 95,162,670 (GRCm39)	D817E	possibly damaging	Het
Pfdn2	C	A	1: 171,173,338 (GRCm39)		probably benign	Het
Pramel28	A	T	4: 143,692,336 (GRCm39)	C222S	probably benign	Het
Raver1	A	G	9: 20,987,918 (GRCm39)	L606P	probably damaging	Het
Robo3	C	T	9: 37,333,829 (GRCm39)	W668*	probably null	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Rxfp2	A	G	5: 149,987,202 (GRCm39)	N337S	possibly damaging	Het
Samhd1	T	C	2: 156,962,474 (GRCm39)		probably null	Het
Sardh	A	G	2: 27,079,655 (GRCm39)	V879A	probably benign	Het
Slc4a4	A	T	5: 89,188,261 (GRCm39)		probably benign	Het
Slc6a11	T	C	6: 114,207,012 (GRCm39)	L332P	probably damaging	Het
Tas2r135	T	C	6: 42,383,321 (GRCm39)	Y287H	probably damaging	Het
Tlr4	T	A	4: 66,759,103 (GRCm39)	I632N	probably damaging	Het
Tmem145	C	T	7: 25,008,270 (GRCm39)		probably null	Het
Trmt61a	C	A	12: 111,647,411 (GRCm39)	F169L	probably damaging	Het
Trp53tg5	T	A	2: 164,313,391 (GRCm39)	I95L	probably benign	Het
Vmn1r85	T	C	7: 12,818,616 (GRCm39)	E176G	probably benign	Het
Vmn2r75	T	C	7: 85,820,820 (GRCm39)	D38G	probably benign	Het
Vmn2r99	A	G	17: 19,598,210 (GRCm39)	Y78C	probably damaging	Het
Zfp964	G	T	8: 70,115,742 (GRCm39)	S114I	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
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
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'- ACTCTGAGGGAAGAGACTGC -3'
(R):5'- AGATGGATCGATAAAACCGGTC -3'

Sequencing Primer
(F):5'- CACATTAGGGATTTACATCTGGCTG -3'
(R):5'- ATCGATAAAACCGGTCCTTCTTTTTC -3'

Posted On

2017-06-26