Mutagenetix > Incidental Mutation

Incidental Mutation 'R9505:Pak7'

717758

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 #

R9505 (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 T at 136116892 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 92 (I92N)

Ref Sequence

ENSEMBL: ENSMUSP00000047285 (fasta)

Gene Model

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

AlphaFold

Q8C015

Predicted Effect

probably damaging
Transcript: ENSMUST00000035264
AA Change: I92N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047285
Gene: ENSMUSG00000039913
AA Change: I92N

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 damaging
Transcript: ENSMUST00000077200
AA Change: I92N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000076440
Gene: ENSMUSG00000039913
AA Change: I92N

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: 100.0%
10x: 99.7%
20x: 99.2%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007G11Rik	A	G	5: 98,329,354	M1V	probably null	Het
4931406P16Rik	A	T	7: 34,284,946	L84Q	probably damaging	Het
9530053A07Rik	A	T	7: 28,142,484	K615*	probably null	Het
Ablim1	A	G	19: 57,197,350		probably benign	Het
Adamts17	A	C	7: 67,124,935	N961T	probably benign	Het
Adamts3	G	A	5: 89,707,892	T373I	probably damaging	Het
Bcan	G	A	3: 87,993,441	P495L	probably benign	Het
Bicd1	A	C	6: 149,484,024	E85A	probably benign	Het
Brca1	G	T	11: 101,512,766	H1437N	probably benign	Het
Camk2n1	T	C	4: 138,455,256	I24T	possibly damaging	Het
Ces2f	T	A	8: 104,950,037	M121K	probably benign	Het
CN725425	T	A	15: 91,240,664	Y136N	possibly damaging	Het
Ctla2a	T	A	13: 60,936,528	M2L	unknown	Het
Cyp3a57	A	T	5: 145,349,329	Y25F	probably benign	Het
Dicer1	C	T	12: 104,731,038	V87M	possibly damaging	Het
Dnah3	A	T	7: 120,045,689	I1123N	probably damaging	Het
Fam212a	T	A	9: 107,984,893	K75*	probably null	Het
Fkbp10	G	T	11: 100,416,000	E73*	probably null	Het
Flnb	C	A	14: 7,904,665	H1023N	probably benign	Het
Gapvd1	T	A	2: 34,723,014	Q312H		Het
Gm14025	A	T	2: 129,036,918	D1029E	unknown	Het
Htr1d	A	T	4: 136,443,578	I373F	probably benign	Het
Inhba	G	A	13: 16,026,771	R306H	probably damaging	Het
Iqcg	A	T	16: 33,040,877	D156E	probably benign	Het
Ireb2	C	A	9: 54,906,637	T798K	probably damaging	Het
Klk8	G	A	7: 43,802,181	A199T	probably damaging	Het
Lgi2	T	C	5: 52,554,433	T182A	probably benign	Het
Ltbp2	C	A	12: 84,853,864	R228L	probably damaging	Het
Lyrm1	A	G	7: 119,909,867	K22E	possibly damaging	Het
Mybbp1a	A	G	11: 72,449,071	D967G	probably benign	Het
Nr6a1	C	T	2: 38,740,473	R259Q	probably benign	Het
Olfr1509	A	G	14: 52,450,472	N20D	probably benign	Het
Olfr611	T	C	7: 103,518,239	I48M	probably benign	Het
Olfr640	C	A	7: 104,021,491	V276F	probably damaging	Het
Pcdhb5	T	A	18: 37,321,611	I348K	possibly damaging	Het
Phf2	C	T	13: 48,803,658	A1078T	probably damaging	Het
Rnf103	T	C	6: 71,510,065	V560A	probably benign	Het
Slc27a4	A	G	2: 29,811,596	I409V	probably benign	Het
Spata18	T	A	5: 73,651,674		probably null	Het
Spon1	A	G	7: 114,033,076	T545A	probably damaging	Het
Stab1	A	G	14: 31,155,765	S772P	probably damaging	Het
Stox2	A	T	8: 47,192,269	S719T	probably benign	Het
Syne1	A	G	10: 5,030,394	V864A	probably benign	Het
Syngap1	A	G	17: 26,961,605	S836G	probably benign	Het
Tiparp	G	T	3: 65,532,156	E298*	probably null	Het
Tmem52	A	G	4: 155,470,158	T114A	probably damaging	Het
Trim36	C	A	18: 46,196,214	C53F	probably damaging	Het
Ttn	C	A	2: 76,885,124		probably null	Het
Ttn	T	C	2: 76,890,467	K6871R	unknown	Het
Ube2d1	T	C	10: 71,262,264		probably null	Het
Unc13c	T	C	9: 73,931,542	T676A	probably benign	Het
Vps13a	A	T	19: 16,742,544	Y417N	possibly damaging	Het
Zfp729a	C	T	13: 67,619,554	C852Y	probably damaging	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
R7593:Pak7	UTSW	2	136100964	missense	probably benign	0.40
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
Z1176:Pak7	UTSW	2	136083246	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGATCCAGGTCATCTCCATAGAG -3'
(R):5'- TTTTCCAGTGAAGTTAGGCAAC -3'

Sequencing Primer
(F):5'- GACTCCTGTCTCTGTACTTTTCAG -3'
(R):5'- AAATGTTTCTCTCATGTTTCCTTCTG -3'

Posted On

2022-07-18