Mutagenetix > Incidental Mutation

Incidental Mutation 'R7593:Pak7'

587495

Institutional Source

Beutler Lab

Gene Symbol

Pak7

Ensembl Gene

ENSMUSG00000039913

Gene Name

p21 (RAC1) activated kinase 7

Synonyms

2900083L08Rik, Pak5

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7593 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

136081104-136387967 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136100964 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 419 (S419P)

Ref Sequence

ENSEMBL: ENSMUSP00000047285 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035264] [ENSMUST00000077200]

AlphaFold

Q8C015

Predicted Effect

probably benign
Transcript: ENSMUST00000035264
AA Change: S419P

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000047285
Gene: ENSMUSG00000039913
AA Change: S419P

Domain	Start	End	E-Value	Type
PBD	11	46	5.3e-13	SMART
low complexity region	394	415	N/A	INTRINSIC
S_TKc	449	700	1.39e-90	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000077200
AA Change: S419P

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000076440
Gene: ENSMUSG00000039913
AA Change: S419P

Domain	Start	End	E-Value	Type
PBD	11	46	5.3e-13	SMART
low complexity region	394	415	N/A	INTRINSIC
S_TKc	449	700	1.39e-90	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the PAK family of Ser/Thr protein kinases. PAK family members are known to be effectors of Rac/Cdc42 GTPases, which have been implicated in the regulation of cytoskeletal dynamics, proliferation, and cell survival signaling. This kinase contains a CDC42/Rac1 interactive binding (CRIB) motif, and has been shown to bind CDC42 in the presence of GTP. This kinase is predominantly expressed in brain. It is capable of promoting neurite outgrowth, and thus may play a role in neurite development. This kinase is associated with microtubule networks and induces microtubule stabilization. The subcellular localization of this kinase is tightly regulated during cell cycle progression. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit impaired active avoidance learning but are otherwise normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	T	5: 63,898,431	A170V	probably damaging	Het
Acp6	A	T	3: 97,165,950	E102D	probably benign	Het
Acss1	T	A	2: 150,619,768	R632*	probably null	Het
Adamtsl1	G	T	4: 86,341,213	C832F	probably damaging	Het
Adgrg6	T	G	10: 14,468,829	M127L	probably damaging	Het
Alkbh1	A	T	12: 87,440,325	Y91*	probably null	Het
Arhgap35	A	T	7: 16,564,861	I93N	probably damaging	Het
Asic2	A	T	11: 81,967,831	D118E	probably benign	Het
Asprv1	G	T	6: 86,628,780	V203L	probably damaging	Het
Atad2b	G	A	12: 5,031,726	D1212N	probably benign	Het
Atp4a	A	G	7: 30,724,680	I960V	probably benign	Het
Bin1	G	T	18: 32,419,879	E186*	probably null	Het
Bmp10	A	G	6: 87,433,669	Y148C	probably damaging	Het
Ccdc152	T	A	15: 3,280,655	D246V	probably damaging	Het
Cdc16	A	G	8: 13,777,605	T504A	probably benign	Het
Cdh9	A	T	15: 16,823,175	D81V	probably damaging	Het
Cep162	A	T	9: 87,204,197	S1025T	probably benign	Het
Cidea	A	G	18: 67,360,213	I101V	probably benign	Het
Clock	G	A	5: 76,236,298	S478L	possibly damaging	Het
Cp	T	A	3: 19,966,330	N162K	probably benign	Het
Crb1	C	T	1: 139,237,240	E1110K	probably damaging	Het
Cyp2b13	A	T	7: 26,080,991	I146L	possibly damaging	Het
D630045J12Rik	A	G	6: 38,195,494	S580P	possibly damaging	Het
Dars2	T	C	1: 161,057,543	E224G	probably damaging	Het
Dcbld2	A	G	16: 58,424,578	T72A	possibly damaging	Het
Ddx11	A	T	17: 66,126,198	I8F	possibly damaging	Het
Dennd2d	T	C	3: 106,499,928	F432L	probably damaging	Het
Dnah10	T	C	5: 124,746,544	V543A	probably benign	Het
Eef2k	G	A	7: 120,889,268		probably null	Het
Elmo1	A	G	13: 20,290,440	M345V	probably benign	Het
Ephb4	A	G	5: 137,361,298	M377V	probably benign	Het
Erbb4	C	A	1: 68,254,599	R711L	probably damaging	Het
Fads1	A	G	19: 10,184,997	E95G	probably damaging	Het
Farsa	G	A	8: 84,867,649		probably null	Het
Galntl6	A	G	8: 57,777,259	S42P	probably damaging	Het
Gga2	G	A	7: 121,990,449	T559M	probably benign	Het
Glipr1l2	G	A	10: 112,092,560	G120D	probably damaging	Het
Gm14226	A	T	2: 155,024,194	I24L	unknown	Het
Gprc5b	G	T	7: 118,984,269	R126S	probably damaging	Het
Gys1	A	G	7: 45,442,936	D321G	probably damaging	Het
Hdlbp	C	T	1: 93,430,283	A299T	probably benign	Het
Hic2	A	G	16: 17,259,115	T603A	probably damaging	Het
Hoxa11	A	T	6: 52,243,544	I253N	probably damaging	Het
Iglon5	A	T	7: 43,476,640	D222E	probably benign	Het
Inpp5d	T	A	1: 87,717,778	S1023T	possibly damaging	Het
Kif21a	C	T	15: 90,943,861	A1233T	probably benign	Het
Kif9	A	T	9: 110,521,353	T771S	possibly damaging	Het
Klre1	T	A	6: 129,583,187	C141S	probably damaging	Het
Lats1	A	G	10: 7,701,712	Y200C	probably damaging	Het
Lgr4	T	A	2: 109,999,456	L247H	probably damaging	Het
Lrrc37a	T	C	11: 103,500,952	K1216E	probably benign	Het
Lrrc41	G	A	4: 116,092,944	R518H	possibly damaging	Het
Lrrk1	A	G	7: 66,308,691	V320A	probably benign	Het
Mcm9	C	T	10: 53,629,992	R62H	probably benign	Het
Mmp10	T	G	9: 7,503,153	L38R	probably damaging	Het
Mroh8	A	G	2: 157,229,947	L546P	probably damaging	Het
Myt1	T	A	2: 181,797,739	D393E	possibly damaging	Het
Mzb1	A	T	18: 35,647,848	I129N	probably damaging	Het
Nek10	A	G	14: 14,826,955	D51G	probably benign	Het
Nme5	A	G	18: 34,567,148	I148T	probably benign	Het
Nr2e1	G	A	10: 42,563,479	P348L	probably damaging	Het
Nrp2	A	G	1: 62,719,044	E63G	probably damaging	Het
Olfr594	A	G	7: 103,220,264	E182G	probably damaging	Het
Olfr613	A	T	7: 103,551,749		probably benign	Het
Olfr678	A	G	7: 105,069,497	H10R	probably benign	Het
Olfr679	A	G	7: 105,086,165	T150A	probably benign	Het
Olfr715	A	T	7: 107,128,575	S273T	probably damaging	Het
Pfas	C	A	11: 68,991,095	M25I		Het
Prdm9	A	G	17: 15,544,605	S638P	possibly damaging	Het
Psd	G	A	19: 46,312,913	T954I	possibly damaging	Het
Psph	T	C	5: 129,787,273		probably benign	Het
Ptprf	A	G	4: 118,212,396	I1517T	probably benign	Het
Rassf8	A	G	6: 145,815,403	R152G	probably benign	Het
Rfx3	G	A	19: 27,849,739	T149I	probably benign	Het
Rfx8	A	T	1: 39,683,678	F260I	probably damaging	Het
Rnft1	C	T	11: 86,493,197	Q308*	probably null	Het
Rock2	A	G	12: 16,958,240	N528S	probably benign	Het
Rpp25l	T	C	4: 41,712,305	R157G	unknown	Het
Ryr1	A	T	7: 29,036,103	N4083K	probably damaging	Het
Scd1	G	T	19: 44,400,300	T237N	probably benign	Het
Sema3d	T	C	5: 12,508,145	F215L	probably benign	Het
Sema7a	C	T	9: 57,960,575	T478I	probably benign	Het
Sftpc	T	C	14: 70,522,183	T99A	possibly damaging	Het
Slc25a4	G	A	8: 46,209,204	T139I	probably damaging	Het
Snx27	T	C	3: 94,502,965	E468G	possibly damaging	Het
Snx33	T	C	9: 56,926,774	K4E	possibly damaging	Het
Soat1	A	T	1: 156,440,578	L253*	probably null	Het
Soga1	A	T	2: 157,040,856	D425E	probably benign	Het
Sycp2l	A	T	13: 41,172,716	N749I	probably damaging	Het
Synj2bp	A	T	12: 81,510,890	I47N	probably damaging	Het
Tmem82	T	A	4: 141,616,294	I222F	probably damaging	Het
Ube2o	A	T	11: 116,581,079	L112Q	possibly damaging	Het
Vmn1r204	G	A	13: 22,556,584	W128*	probably null	Het
Vmn2r114	A	T	17: 23,291,843	Y554*	probably null	Het
Vmn2r62	A	T	7: 42,787,789	Y424N	possibly damaging	Het
Vmn2r70	A	T	7: 85,566,104	L74*	probably null	Het
Vmp1	T	A	11: 86,586,551	Y341F	probably benign	Het
Vps13a	A	T	19: 16,725,663	V642D	probably damaging	Het
Vps33a	T	C	5: 123,536,556	M383V	probably benign	Het
Vwf	G	A	6: 125,647,768	V1827I		Het
Zc3hav1	A	G	6: 38,329,186	Y644H	probably benign	Het
Zfp429	A	C	13: 67,390,291	C345G	probably damaging	Het
Zfp595	T	C	13: 67,316,759	H483R	probably benign	Het
Zfp748	G	T	13: 67,542,519	H207Q	probably benign	Het
Zfp758	T	C	17: 22,374,958	S142P	probably damaging	Het
Znfx1	A	C	2: 167,056,225	S260A	probably benign	Het

Other mutations in Pak7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01671:Pak7	APN	2	136116373	missense	possibly damaging	0.89
IGL01743:Pak7	APN	2	136087413	missense	probably damaging	1.00
IGL02601:Pak7	APN	2	136116935	nonsense	probably null
IGL03172:Pak7	APN	2	136098390	nonsense	probably null
currency	UTSW	2	136100939	missense	probably benign	0.15
Depreciation	UTSW	2	136097534	missense	probably damaging	1.00
PIT4498001:Pak7	UTSW	2	136083291	missense	probably damaging	1.00
R0025:Pak7	UTSW	2	136100784	missense	possibly damaging	0.68
R0025:Pak7	UTSW	2	136100784	missense	possibly damaging	0.68
R0400:Pak7	UTSW	2	136097579	missense	possibly damaging	0.95
R0441:Pak7	UTSW	2	136116629	missense	probably benign
R1653:Pak7	UTSW	2	136116887	missense	probably damaging	1.00
R1662:Pak7	UTSW	2	136116760	missense	probably damaging	0.96
R1855:Pak7	UTSW	2	136087509	missense	probably benign	0.00
R1872:Pak7	UTSW	2	136085588	missense	possibly damaging	0.93
R2001:Pak7	UTSW	2	136116637	missense	probably benign	0.00
R2002:Pak7	UTSW	2	136116637	missense	probably benign	0.00
R2157:Pak7	UTSW	2	136100957	missense	probably damaging	0.96
R2160:Pak7	UTSW	2	136098382	missense	probably benign	0.01
R2217:Pak7	UTSW	2	136116203	missense	probably damaging	1.00
R3797:Pak7	UTSW	2	136100826	missense	probably benign	0.06
R4711:Pak7	UTSW	2	136087517	missense	probably damaging	1.00
R4904:Pak7	UTSW	2	136083347	missense	probably benign	0.02
R5090:Pak7	UTSW	2	136087418	missense	probably damaging	1.00
R5120:Pak7	UTSW	2	136083229	missense	probably damaging	0.97
R5669:Pak7	UTSW	2	136116284	missense	probably damaging	1.00
R5954:Pak7	UTSW	2	136116463	missense	probably benign	0.01
R6127:Pak7	UTSW	2	136087406	missense	probably damaging	0.99
R6250:Pak7	UTSW	2	136174269	start gained	probably benign
R6471:Pak7	UTSW	2	136116190	missense	probably benign	0.00
R6797:Pak7	UTSW	2	136097534	missense	probably damaging	1.00
R6809:Pak7	UTSW	2	136097581	missense	possibly damaging	0.83
R6945:Pak7	UTSW	2	136100939	missense	probably benign	0.15
R7254:Pak7	UTSW	2	136116764	missense	possibly damaging	0.50
R7265:Pak7	UTSW	2	136101185	missense	probably benign	0.03
R7335:Pak7	UTSW	2	136098299	missense	probably damaging	1.00
R7511:Pak7	UTSW	2	136083324	missense	possibly damaging	0.87
R7573:Pak7	UTSW	2	136116305	missense	probably damaging	1.00
R7908:Pak7	UTSW	2	136116559	missense	probably benign	0.14
R8304:Pak7	UTSW	2	136098283	missense	probably benign	0.11
R9091:Pak7	UTSW	2	136116768	missense	probably damaging	0.98
R9177:Pak7	UTSW	2	136101206	missense	probably benign	0.00
R9270:Pak7	UTSW	2	136116768	missense	probably damaging	0.98
R9505:Pak7	UTSW	2	136116892	missense	probably damaging	1.00
Z1176:Pak7	UTSW	2	136083246	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGGAGGTCCATTTTCTTCACTG -3'
(R):5'- TGTCAGGGTCCGACACTTAC -3'

Sequencing Primer
(F):5'- GCCACTTGCTTGCCTGTGTG -3'
(R):5'- GGTCCGACACTTACCCCAGAG -3'

Posted On

2019-10-24