Mutagenetix > Incidental Mutation

Incidental Mutation 'R2157:Pak5'

234886

Institutional Source

Beutler Lab

Gene Symbol

Pak5

Ensembl Gene

ENSMUSG00000039913

Gene Name

p21 (RAC1) activated kinase 5

Synonyms

Pak5, Pak7, 2900083L08Rik

MMRRC Submission

040160-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2157 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135923024-136229887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135942877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 421 (D421G)

Ref Sequence

ENSEMBL: ENSMUSP00000076440 (fasta)

Gene Model

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

AlphaFold

Q8C015

Predicted Effect

probably damaging
Transcript: ENSMUST00000035264
AA Change: D421G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000047285
Gene: ENSMUSG00000039913
AA Change: D421G

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: D421G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000076440
Gene: ENSMUSG00000039913
AA Change: D421G

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

Meta Mutation Damage Score

0.1168

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (80/80)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	A	T	8: 125,378,168 (GRCm39)		probably benign	Het
4930590J08Rik	T	A	6: 91,919,468 (GRCm39)	M709K	possibly damaging	Het
4930590J08Rik	A	G	6: 91,894,679 (GRCm39)		probably null	Het
A930011G23Rik	T	G	5: 99,379,956 (GRCm39)	I394L	probably damaging	Het
Abca13	A	C	11: 9,527,170 (GRCm39)	M4528L	probably damaging	Het
Abcb1b	G	A	5: 8,874,791 (GRCm39)	A484T	probably benign	Het
Actn1	A	T	12: 80,219,891 (GRCm39)	M660K	probably benign	Het
Adgra3	G	T	5: 50,159,283 (GRCm39)	N322K	possibly damaging	Het
Ahnak	A	G	19: 8,978,048 (GRCm39)	I56V	possibly damaging	Het
Amotl2	A	G	9: 102,607,788 (GRCm39)		probably benign	Het
Apoa1	T	C	9: 46,140,471 (GRCm39)	V34A	probably damaging	Het
Arrdc1	G	A	2: 24,816,987 (GRCm39)	A113V	probably damaging	Het
As3mt	A	G	19: 46,696,231 (GRCm39)	D13G	probably benign	Het
Cald1	A	G	6: 34,662,976 (GRCm39)	Q13R	possibly damaging	Het
Ccdc28a	G	A	10: 18,106,203 (GRCm39)	T41I	probably benign	Het
Ccdc30	A	T	4: 119,190,921 (GRCm39)		probably benign	Het
Cct2	T	C	10: 116,898,714 (GRCm39)		probably benign	Het
Cdh12	T	C	15: 21,583,873 (GRCm39)	I571T	possibly damaging	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Ckm	T	C	7: 19,155,279 (GRCm39)	S372P	probably benign	Het
Comp	C	T	8: 70,832,220 (GRCm39)	Q554*	probably null	Het
Csf2ra	T	C	19: 61,215,509 (GRCm39)	T70A	probably benign	Het
Csmd3	T	C	15: 47,559,183 (GRCm39)	E2256G	probably damaging	Het
Dicer1	A	T	12: 104,669,208 (GRCm39)	V1158D	probably benign	Het
Dner	A	G	1: 84,361,659 (GRCm39)	F650S	possibly damaging	Het
Dnm3	T	C	1: 162,135,462 (GRCm39)	N437S	possibly damaging	Het
Dpy19l2	T	C	9: 24,592,076 (GRCm39)	I176V	probably benign	Het
Dpy19l2	A	T	9: 24,495,928 (GRCm39)	C597S	probably benign	Het
Edf1	T	C	2: 25,448,043 (GRCm39)		probably null	Het
Eif1ad16	A	T	12: 87,985,481 (GRCm39)	S21T	unknown	Het
Enpp3	A	G	10: 24,652,776 (GRCm39)	F727S	probably damaging	Het
Epb42	C	T	2: 120,852,243 (GRCm39)	M583I	probably benign	Het
Foxred1	A	G	9: 35,116,659 (GRCm39)	F117S	probably damaging	Het
Fstl5	T	A	3: 76,615,372 (GRCm39)	M811K	possibly damaging	Het
Gm5117	A	T	8: 32,228,222 (GRCm39)		noncoding transcript	Het
Gpm6a	T	C	8: 55,511,833 (GRCm39)	S236P	probably damaging	Het
Grik1	G	A	16: 87,853,012 (GRCm39)	A57V	probably damaging	Het
Hdgfl2	G	A	17: 56,405,691 (GRCm39)	V476I	possibly damaging	Het
Il17b	G	T	18: 61,823,439 (GRCm39)	W91L	probably damaging	Het
Jph4	C	A	14: 55,350,984 (GRCm39)	R344L	probably benign	Het
Map3k21	A	G	8: 126,664,005 (GRCm39)	D522G	probably benign	Het
Mast2	A	G	4: 116,179,480 (GRCm39)	L398S	probably damaging	Het
Mbtd1	A	G	11: 93,801,214 (GRCm39)	T132A	probably benign	Het
Mbtps1	G	T	8: 120,269,466 (GRCm39)	T208K	probably benign	Het
Mr1	A	G	1: 155,022,376 (GRCm39)		probably null	Het
Mthfsd	G	A	8: 121,828,240 (GRCm39)	L140F	probably damaging	Het
Mybpc2	C	G	7: 44,159,269 (GRCm39)	D594H	possibly damaging	Het
Nalcn	T	C	14: 123,647,164 (GRCm39)	M570V	probably benign	Het
Ncam2	T	C	16: 81,287,277 (GRCm39)	I397T	probably damaging	Het
Ndufs4	C	T	13: 114,453,514 (GRCm39)	V75I	probably damaging	Het
Nek4	T	A	14: 30,701,925 (GRCm39)		probably null	Het
Nfatc1	G	T	18: 80,679,060 (GRCm39)	A762D	possibly damaging	Het
Nhsl3	C	T	4: 129,117,917 (GRCm39)	R249H	possibly damaging	Het
Npc1	A	G	18: 12,324,866 (GRCm39)	I1209T	probably damaging	Het
Or10k2	T	C	8: 84,268,250 (GRCm39)	I159T	probably benign	Het
Or4c11	A	T	2: 88,695,213 (GRCm39)	N88I	probably benign	Het
Pias1	A	G	9: 62,820,112 (GRCm39)	V285A	possibly damaging	Het
Pigg	T	A	5: 108,466,755 (GRCm39)	I212N	probably damaging	Het
Plcd3	A	T	11: 102,961,974 (GRCm39)	C711S	probably benign	Het
Plscr5	G	A	9: 92,080,550 (GRCm39)	R12K	probably benign	Het
Plxna4	T	C	6: 32,493,909 (GRCm39)	I236V	probably benign	Het
Ppp1r26	T	C	2: 28,342,370 (GRCm39)	F667L	probably benign	Het
Prkx	A	G	X: 76,814,920 (GRCm39)	F247L	probably benign	Het
Qpct	G	A	17: 79,378,115 (GRCm39)	R95Q	probably benign	Het
Ralgapb	G	T	2: 158,279,392 (GRCm39)	M159I	probably benign	Het
Rnf145	T	C	11: 44,445,997 (GRCm39)	L277P	probably damaging	Het
Scn9a	A	G	2: 66,366,669 (GRCm39)	S705P	probably damaging	Het
Slc4a8	A	G	15: 100,704,254 (GRCm39)	T750A	probably damaging	Het
Slc66a1	A	T	4: 139,029,166 (GRCm39)	V106D	probably damaging	Het
Syne2	A	G	12: 76,141,230 (GRCm39)	E6114G	probably damaging	Het
Tat	T	C	8: 110,724,236 (GRCm39)	M375T	probably damaging	Het
Tex10	C	T	4: 48,436,522 (GRCm39)		probably benign	Het
Tmprss11e	T	C	5: 86,861,587 (GRCm39)	K320E	probably benign	Het
Tnr	T	C	1: 159,685,840 (GRCm39)	I357T	probably damaging	Het
Vmn1r229	A	T	17: 21,035,638 (GRCm39)	R294S	possibly damaging	Het
Vmn2r116	G	A	17: 23,620,443 (GRCm39)	D726N	probably damaging	Het
Vpreb1b	T	A	16: 17,798,934 (GRCm39)	L140*	probably null	Het
Wfs1	G	A	5: 37,125,286 (GRCm39)	P535L	probably damaging	Het
Xdh	A	G	17: 74,229,532 (GRCm39)	L307P	probably damaging	Het
Zfp160	A	G	17: 21,241,090 (GRCm39)	S53G	probably benign	Het
Zfp319	A	G	8: 96,054,659 (GRCm39)	C515R	probably damaging	Het
Zfp747	A	G	7: 126,974,929 (GRCm39)	F24L	possibly damaging	Het
Zzef1	A	T	11: 72,739,460 (GRCm39)		probably benign	Het

Other mutations in Pak5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01671:Pak5	APN	2	135,958,293 (GRCm39)	missense	possibly damaging	0.89
IGL01743:Pak5	APN	2	135,929,333 (GRCm39)	missense	probably damaging	1.00
IGL02601:Pak5	APN	2	135,958,855 (GRCm39)	nonsense	probably null
IGL03172:Pak5	APN	2	135,940,310 (GRCm39)	nonsense	probably null
currency	UTSW	2	135,942,859 (GRCm39)	missense	probably benign	0.15
Depreciation	UTSW	2	135,939,454 (GRCm39)	missense	probably damaging	1.00
PIT4498001:Pak5	UTSW	2	135,925,211 (GRCm39)	missense	probably damaging	1.00
R0025:Pak5	UTSW	2	135,942,704 (GRCm39)	missense	possibly damaging	0.68
R0025:Pak5	UTSW	2	135,942,704 (GRCm39)	missense	possibly damaging	0.68
R0400:Pak5	UTSW	2	135,939,499 (GRCm39)	missense	possibly damaging	0.95
R0441:Pak5	UTSW	2	135,958,549 (GRCm39)	missense	probably benign
R1653:Pak5	UTSW	2	135,958,807 (GRCm39)	missense	probably damaging	1.00
R1662:Pak5	UTSW	2	135,958,680 (GRCm39)	missense	probably damaging	0.96
R1855:Pak5	UTSW	2	135,929,429 (GRCm39)	missense	probably benign	0.00
R1872:Pak5	UTSW	2	135,927,508 (GRCm39)	missense	possibly damaging	0.93
R2001:Pak5	UTSW	2	135,958,557 (GRCm39)	missense	probably benign	0.00
R2002:Pak5	UTSW	2	135,958,557 (GRCm39)	missense	probably benign	0.00
R2160:Pak5	UTSW	2	135,940,302 (GRCm39)	missense	probably benign	0.01
R2217:Pak5	UTSW	2	135,958,123 (GRCm39)	missense	probably damaging	1.00
R3797:Pak5	UTSW	2	135,942,746 (GRCm39)	missense	probably benign	0.06
R4711:Pak5	UTSW	2	135,929,437 (GRCm39)	missense	probably damaging	1.00
R4904:Pak5	UTSW	2	135,925,267 (GRCm39)	missense	probably benign	0.02
R5090:Pak5	UTSW	2	135,929,338 (GRCm39)	missense	probably damaging	1.00
R5120:Pak5	UTSW	2	135,925,149 (GRCm39)	missense	probably damaging	0.97
R5669:Pak5	UTSW	2	135,958,204 (GRCm39)	missense	probably damaging	1.00
R5954:Pak5	UTSW	2	135,958,383 (GRCm39)	missense	probably benign	0.01
R6127:Pak5	UTSW	2	135,929,326 (GRCm39)	missense	probably damaging	0.99
R6250:Pak5	UTSW	2	136,016,189 (GRCm39)	start gained	probably benign
R6471:Pak5	UTSW	2	135,958,110 (GRCm39)	missense	probably benign	0.00
R6797:Pak5	UTSW	2	135,939,454 (GRCm39)	missense	probably damaging	1.00
R6809:Pak5	UTSW	2	135,939,501 (GRCm39)	missense	possibly damaging	0.83
R6945:Pak5	UTSW	2	135,942,859 (GRCm39)	missense	probably benign	0.15
R7254:Pak5	UTSW	2	135,958,684 (GRCm39)	missense	possibly damaging	0.50
R7265:Pak5	UTSW	2	135,943,105 (GRCm39)	missense	probably benign	0.03
R7335:Pak5	UTSW	2	135,940,219 (GRCm39)	missense	probably damaging	1.00
R7511:Pak5	UTSW	2	135,925,244 (GRCm39)	missense	possibly damaging	0.87
R7573:Pak5	UTSW	2	135,958,225 (GRCm39)	missense	probably damaging	1.00
R7593:Pak5	UTSW	2	135,942,884 (GRCm39)	missense	probably benign	0.40
R7908:Pak5	UTSW	2	135,958,479 (GRCm39)	missense	probably benign	0.14
R8304:Pak5	UTSW	2	135,940,203 (GRCm39)	missense	probably benign	0.11
R9091:Pak5	UTSW	2	135,958,688 (GRCm39)	missense	probably damaging	0.98
R9177:Pak5	UTSW	2	135,943,126 (GRCm39)	missense	probably benign	0.00
R9270:Pak5	UTSW	2	135,958,688 (GRCm39)	missense	probably damaging	0.98
R9505:Pak5	UTSW	2	135,958,812 (GRCm39)	missense	probably damaging	1.00
Z1176:Pak5	UTSW	2	135,925,166 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

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

Sequencing Primer
(F):5'- CTGCTGCTTTCGGAGGTCC -3'
(R):5'- GTCAAAGCAAAGCAGGCTACTCTTC -3'

Posted On

2014-10-01