Mutagenetix > Incidental Mutation

Incidental Mutation 'R1874:Pak1'

211046

Institutional Source

Beutler Lab

Gene Symbol

Pak1

Ensembl Gene

ENSMUSG00000030774

Gene Name

p21 (RAC1) activated kinase 1

Synonyms

Paka, PAK-1

MMRRC Submission

039896-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1874 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97788541-97912381 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97871580 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 149 (S149P)

Ref Sequence

ENSEMBL: ENSMUSP00000138684 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000033040
AA Change: S149P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000033040
Gene: ENSMUSG00000030774
AA Change: S149P

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
AA Change: S149P

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000138684
Gene: ENSMUSG00000030774
AA Change: S149P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000206984
AA Change: S149P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0618

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.8%
20x: 94.1%

Validation Efficiency

96% (105/109)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	G	1: 130,742,691	S217G	probably benign	Het
Adrb3	C	A	8: 27,227,563	R286L	probably damaging	Het
Akap11	T	A	14: 78,511,866	D1027V	probably benign	Het
Ank3	A	T	10: 69,898,083	I726F	probably damaging	Het
Ankmy2	T	A	12: 36,165,931	D43E	possibly damaging	Het
Ankrd34b	A	G	13: 92,439,556	D432G	probably damaging	Het
Ano3	A	C	2: 110,884,872	S74A	probably benign	Het
B4galnt4	T	A	7: 141,070,526	S769T	probably damaging	Het
Bicral	T	A	17: 46,825,178	T369S	probably benign	Het
Blm	A	G	7: 80,497,418	L738P	probably damaging	Het
Bpifb3	A	G	2: 153,925,840	T278A	probably benign	Het
Bpifb5	A	G	2: 154,227,202		probably benign	Het
Brd8	G	C	18: 34,610,474	P266R	probably damaging	Het
Btaf1	A	T	19: 36,980,583	M587L	probably benign	Het
Casz1	C	G	4: 148,943,211	T1015S	probably damaging	Het
Cdh23	A	G	10: 60,436,818	I524T	possibly damaging	Het
Celsr3	T	C	9: 108,835,838	V1825A	probably benign	Het
Cenpf	A	G	1: 189,683,816	L104P	probably damaging	Het
Clasp1	G	T	1: 118,600,585		probably null	Het
Coprs	A	G	8: 13,885,112	W148R	probably damaging	Het
Cpne1	A	G	2: 156,078,382	S168P	probably damaging	Het
Cpxm2	T	C	7: 132,059,834	Y408C	probably damaging	Het
Ctnna3	A	G	10: 63,504,107	E24G	possibly damaging	Het
Cubn	T	A	2: 13,323,002	S2671C	probably damaging	Het
Cyp4f39	T	A	17: 32,483,324	F265Y	probably damaging	Het
Dgkq	C	A	5: 108,660,595	R34L	probably benign	Het
Dnajc7	C	T	11: 100,599,313		probably benign	Het
Eml6	T	G	11: 29,831,136	D632A	probably damaging	Het
Fbxl18	G	A	5: 142,886,223	A419V	probably damaging	Het
Fbxw22	A	T	9: 109,385,111	C212*	probably null	Het
Ffar2	A	G	7: 30,819,414		probably null	Het
Fga	A	T	3: 83,032,721	T561S	probably damaging	Het
Fry	A	G	5: 150,345,921	Y159C	probably damaging	Het
Gal3st1	A	G	11: 3,998,231	Y146C	probably damaging	Het
Gapvd1	A	T	2: 34,706,021	H788Q	probably damaging	Het
Gimap7	G	A	6: 48,723,515	V12I	possibly damaging	Het
Gli2	C	A	1: 119,002,049	A43S	possibly damaging	Het
Gm15446	T	C	5: 109,942,553	F224L	probably damaging	Het
Gm21738	C	T	14: 19,418,824	V35I	possibly damaging	Het
Grhl1	T	C	12: 24,586,156		probably benign	Het
Grk6	T	C	13: 55,450,273	Y53H	probably damaging	Het
Hcar1	C	T	5: 123,879,265	R121K	probably damaging	Het
Hmcn1	A	C	1: 150,720,695	S1797A	probably damaging	Het
Hsd17b7	A	T	1: 169,955,993	L282Q	possibly damaging	Het
Irs1	TTCTCTGAGTGGCCACAGCGTCT	TTCT	1: 82,289,853		probably null	Het
Kif1b	C	T	4: 149,187,632	V1571I	probably benign	Het
Lpl	T	A	8: 68,896,619	C266S	probably damaging	Het
Mag	G	A	7: 30,909,051	H213Y	probably benign	Het
Mansc4	T	G	6: 147,075,190	R309S	probably benign	Het
Mlh3	A	G	12: 85,237,513		probably null	Het
Mndal	G	A	1: 173,860,367		probably benign	Het
Mrgpra2b	T	A	7: 47,463,994	E330V	probably damaging	Het
Myh3	A	G	11: 67,093,179	I990V	probably benign	Het
Myoz2	A	T	3: 123,026,116	S65T	probably damaging	Het
Naa16	T	C	14: 79,355,743	E463G	possibly damaging	Het
Nadsyn1	A	G	7: 143,797,844	F684S	probably damaging	Het
Notch1	T	C	2: 26,481,579	E286G	possibly damaging	Het
Nynrin	A	T	14: 55,863,493	I247L	probably benign	Het
Olfr136	C	T	17: 38,335,969	P271S	probably damaging	Het
Olfr644	T	C	7: 104,068,129	I301V	probably null	Het
Olfr981	T	A	9: 40,022,855	I154N	possibly damaging	Het
Oprm1	A	G	10: 6,789,035	H54R	probably benign	Het
P4hb	C	T	11: 120,562,166	D483N	probably benign	Het
Pars2	T	C	4: 106,653,716	F232L	possibly damaging	Het
Pih1d2	A	G	9: 50,620,945	M88V	possibly damaging	Het
Pms1	A	T	1: 53,207,233	N382K	probably benign	Het
Pnliprp2	G	T	19: 58,763,389	V189L	probably benign	Het
Pole	G	A	5: 110,323,664	V1425M	possibly damaging	Het
Pot1b	T	A	17: 55,654,805	Q591L	probably benign	Het
Ppp1r9a	C	T	6: 4,906,348	T301M	possibly damaging	Het
Psg21	T	C	7: 18,650,816	E335G	probably benign	Het
Ptpru	T	A	4: 131,769,755	M1416L	probably benign	Het
Pxn	T	C	5: 115,544,990	V117A	probably damaging	Het
Qsox1	C	T	1: 155,812,639	R54H	possibly damaging	Het
Rad1	A	G	15: 10,488,006	E42G	probably damaging	Het
Rpp14	A	G	14: 8,090,145	Y23C	probably benign	Het
Sdk2	C	T	11: 113,834,956	V1156I	probably benign	Het
Serpina3j	G	T	12: 104,319,699	R371L	probably benign	Het
Serpinb9d	T	A	13: 33,197,963		probably null	Het
Sirt5	C	T	13: 43,370,791	S13F	possibly damaging	Het
Slc6a7	T	A	18: 61,001,398		probably benign	Het
Slx4	A	G	16: 3,986,848	S701P	probably benign	Het
Snx29	A	G	16: 11,367,681	T43A	probably benign	Het
Speg	T	C	1: 75,423,906	V2570A	probably benign	Het
Srrm4	T	A	5: 116,453,506		probably benign	Het
Stk32a	A	G	18: 43,261,316	Y110C	probably damaging	Het
Tbc1d31	G	A	15: 57,916,110	G73E	probably benign	Het
Thsd7a	A	T	6: 12,555,435	I150N	possibly damaging	Het
Tjp1	A	T	7: 65,319,253	D699E	probably damaging	Het
Tmem143	A	G	7: 45,916,564	D437G	possibly damaging	Het
Tmem45a2	A	G	16: 57,047,084	Y85H	possibly damaging	Het
Tmem45b	T	A	9: 31,429,087	T7S	probably damaging	Het
Ube4b	A	G	4: 149,347,971	L832P	probably damaging	Het
Ugp2	G	T	11: 21,329,048	F379L	probably damaging	Het
Ugt3a2	A	T	15: 9,365,351	D350V	probably damaging	Het
Vmn2r8	T	A	5: 108,802,418	T188S	possibly damaging	Het
Vwa7	C	G	17: 35,017,112	P14R	probably benign	Het
Vwc2	C	A	11: 11,261,495	T317K	probably damaging	Het
Vwf	A	T	6: 125,628,372	Q906L	probably benign	Het
Wdr49	A	G	3: 75,429,347	V351A	probably damaging	Het
Wdr7	A	G	18: 63,728,504	S196G	probably benign	Het
Xkr6	C	A	14: 63,798,296	A26E	unknown	Het
Zcchc11	T	A	4: 108,550,725	V1397D	probably damaging	Het
Zfp955b	T	C	17: 33,305,453	I47V	probably benign	Het

Other mutations in Pak1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Pak1	APN	7	97,854,568 (GRCm38)	missense	probably benign	0.03
IGL01676:Pak1	APN	7	97,883,531 (GRCm38)	missense	probably benign	0.00
IGL02058:Pak1	APN	7	97,911,115 (GRCm38)	missense	probably damaging	1.00
IGL02557:Pak1	APN	7	97,871,587 (GRCm38)	missense	probably benign	0.08
IGL02678:Pak1	APN	7	97,894,002 (GRCm38)	missense	probably damaging	0.99
R1739:Pak1	UTSW	7	97,904,695 (GRCm38)	missense	probably damaging	1.00
R2057:Pak1	UTSW	7	97,907,797 (GRCm38)	splice site	probably null
R2363:Pak1	UTSW	7	97,886,314 (GRCm38)	missense	probably benign	0.01
R2420:Pak1	UTSW	7	97,854,479 (GRCm38)	missense	probably benign	0.02
R2880:Pak1	UTSW	7	97,904,811 (GRCm38)	missense	probably damaging	1.00
R3113:Pak1	UTSW	7	97,866,114 (GRCm38)	nonsense	probably null
R3722:Pak1	UTSW	7	97,854,497 (GRCm38)	missense	probably damaging	1.00
R4363:Pak1	UTSW	7	97,883,586 (GRCm38)	missense	possibly damaging	0.49
R6021:Pak1	UTSW	7	97,854,463 (GRCm38)	missense	probably damaging	1.00
R6459:Pak1	UTSW	7	97,907,881 (GRCm38)	missense	probably benign	0.04
R6820:Pak1	UTSW	7	97,886,379 (GRCm38)	missense	probably benign
R7336:Pak1	UTSW	7	97,888,972 (GRCm38)	missense	probably benign	0.13
R7717:Pak1	UTSW	7	97,886,348 (GRCm38)	missense	probably benign	0.00
R8033:Pak1	UTSW	7	97,886,383 (GRCm38)	missense	probably benign
R8833:Pak1	UTSW	7	97,854,632 (GRCm38)	missense	possibly damaging	0.93
R9640:Pak1	UTSW	7	97,866,148 (GRCm38)	missense	probably benign	0.06
R9748:Pak1	UTSW	7	97,898,635 (GRCm38)	missense	possibly damaging	0.82
X0027:Pak1	UTSW	7	97,904,752 (GRCm38)	missense	probably damaging	0.99
Z1177:Pak1	UTSW	7	97,865,494 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CACCCATTGAAAACTTGTGATGTG -3'
(R):5'- AACCACTCCAGTTCCTTTACTGTAG -3'

Sequencing Primer
(F):5'- CCTGTGTACATGCTGGGCAAATTAC -3'
(R):5'- CTCCAGTTCCTTTACTGTAGATAGAG -3'

Posted On

2014-06-30