Mutagenetix > Incidental Mutation

Incidental Mutation 'R1855:Pak5'

206008

Institutional Source

Beutler Lab

Gene Symbol

Pak5

Ensembl Gene

ENSMUSG00000039913

Gene Name

p21 (RAC1) activated kinase 5

Synonyms

Pak5, Pak7, 2900083L08Rik

MMRRC Submission

039879-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1855 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135923024-136229887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 135929429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 585 (S585T)

Ref Sequence

ENSEMBL: ENSMUSP00000076440 (fasta)

Gene Model

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

AlphaFold

Q8C015

Predicted Effect

probably benign
Transcript: ENSMUST00000035264
AA Change: S585T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000047285
Gene: ENSMUSG00000039913
AA Change: S585T

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: S585T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000076440
Gene: ENSMUSG00000039913
AA Change: S585T

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

0.4483

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

97% (72/74)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	T	A	1: 11,818,195 (GRCm39)	L285Q	probably damaging	Het
Acaca	T	C	11: 84,262,380 (GRCm39)	L1994P	probably damaging	Het
Adamts9	A	G	6: 92,878,350 (GRCm39)		probably benign	Het
Aff3	T	C	1: 38,249,385 (GRCm39)	E574G	probably benign	Het
Ankrd1	T	C	19: 36,096,635 (GRCm39)	K64R	probably damaging	Het
Arhgap23	T	C	11: 97,339,523 (GRCm39)	I163T	probably damaging	Het
Ascc3	A	T	10: 50,494,018 (GRCm39)	Q151L	probably benign	Het
Atad2	G	A	15: 57,960,685 (GRCm39)	P971L	possibly damaging	Het
C1s1	A	C	6: 124,511,315 (GRCm39)		probably null	Het
Ccdc150	T	C	1: 54,407,069 (GRCm39)		probably benign	Het
Cdhr3	A	T	12: 33,110,351 (GRCm39)	I311N	probably damaging	Het
Chad	T	A	11: 94,456,303 (GRCm39)	L127H	probably damaging	Het
Clasp1	G	A	1: 118,436,624 (GRCm39)	A303T	probably damaging	Het
Clptm1	A	G	7: 19,372,134 (GRCm39)	V234A	probably benign	Het
Cnih3	C	A	1: 181,282,186 (GRCm39)	S140*	probably null	Het
Col24a1	G	A	3: 145,164,895 (GRCm39)	G1033D	probably damaging	Het
Csnk1a1	T	A	18: 61,708,498 (GRCm39)		probably null	Het
Cttnbp2	T	A	6: 18,378,412 (GRCm39)	I1475L	probably benign	Het
Dnah5	T	C	15: 28,411,815 (GRCm39)	V3728A	possibly damaging	Het
Dock9	C	A	14: 121,877,571 (GRCm39)	V391F	probably damaging	Het
Ehmt2	A	T	17: 35,129,752 (GRCm39)	I949F	probably damaging	Het
Eif4g1	C	A	16: 20,505,911 (GRCm39)	T1025K	possibly damaging	Het
Enpp2	C	T	15: 54,709,219 (GRCm39)	E803K	probably damaging	Het
Esrrg	A	T	1: 187,943,295 (GRCm39)	M423L	probably damaging	Het
Etnppl	A	T	3: 130,414,371 (GRCm39)	I89F	probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fbln7	A	G	2: 128,735,755 (GRCm39)	T248A	possibly damaging	Het
Galnt9	C	T	5: 110,763,390 (GRCm39)	T465M	probably damaging	Het
Grcc10	A	G	6: 124,717,541 (GRCm39)	V57A	probably benign	Het
Herc1	T	A	9: 66,298,708 (GRCm39)	M614K	possibly damaging	Het
Itch	C	T	2: 155,014,374 (GRCm39)		probably benign	Het
Kdm6b	C	A	11: 69,298,112 (GRCm39)	A167S	probably damaging	Het
Kidins220	C	T	12: 25,106,590 (GRCm39)	R1348C	probably damaging	Het
Kif17	T	C	4: 138,015,582 (GRCm39)	L577P	probably benign	Het
Krt25	A	T	11: 99,209,141 (GRCm39)	L258Q	probably damaging	Het
Marchf10	T	C	11: 105,281,218 (GRCm39)	T356A	probably benign	Het
Mical2	G	A	7: 111,944,489 (GRCm39)	A940T	probably benign	Het
Mrpl4	A	G	9: 20,914,667 (GRCm39)	E81G	possibly damaging	Het
Mtcl1	A	G	17: 66,686,509 (GRCm39)	V447A	probably benign	Het
Mtor	C	A	4: 148,637,546 (GRCm39)	N2502K	probably benign	Het
Notch4	G	A	17: 34,799,936 (GRCm39)	D966N	probably benign	Het
Oip5	C	A	2: 119,442,271 (GRCm39)	K214N	probably benign	Het
Or8a1b	A	T	9: 37,623,266 (GRCm39)	F103Y	possibly damaging	Het
Pabir2	T	A	X: 52,342,933 (GRCm39)	Q201H	probably benign	Het
Pard3	T	A	8: 128,174,293 (GRCm39)		probably null	Het
Pcnx2	A	T	8: 126,534,735 (GRCm39)		probably benign	Het
Pcsk5	T	C	19: 17,492,556 (GRCm39)	Y939C	possibly damaging	Het
Pde1a	A	G	2: 79,728,408 (GRCm39)		probably null	Het
Pde9a	C	T	17: 31,674,094 (GRCm39)	P60S	probably damaging	Het
Pikfyve	C	A	1: 65,297,957 (GRCm39)	T1562K	probably benign	Het
Plekhg6	A	T	6: 125,352,802 (GRCm39)	M115K	probably damaging	Het
Pogz	C	T	3: 94,786,160 (GRCm39)	T863I	probably benign	Het
Ppp1r3a	A	T	6: 14,754,993 (GRCm39)	W85R	probably damaging	Het
Rnf123	C	A	9: 107,938,990 (GRCm39)	R826L	probably damaging	Het
Slc1a6	T	A	10: 78,648,758 (GRCm39)	V493E	probably damaging	Het
Slc22a2	A	G	17: 12,805,699 (GRCm39)	D150G	probably damaging	Het
Snap47	C	T	11: 59,319,159 (GRCm39)		probably benign	Het
Spata22	A	G	11: 73,231,385 (GRCm39)	D213G	probably benign	Het
St6galnac2	T	A	11: 116,581,141 (GRCm39)	R60S	probably benign	Het
Stk32c	A	G	7: 138,701,363 (GRCm39)	F263S	probably damaging	Het
Supt6	T	C	11: 78,123,366 (GRCm39)	I104V	possibly damaging	Het
Tex2	T	C	11: 106,437,702 (GRCm39)	E158G	possibly damaging	Het
Tiam2	C	T	17: 3,465,410 (GRCm39)	R380C	probably damaging	Het
Trim25	C	T	11: 88,906,407 (GRCm39)	T410I	probably benign	Het
Usp18	T	A	6: 121,239,076 (GRCm39)	C212S	probably benign	Het
Vmn1r2	A	G	4: 3,172,588 (GRCm39)	Y169C	probably damaging	Het
Wdr33	A	T	18: 32,039,909 (GRCm39)		probably benign	Het
Xpr1	A	G	1: 155,159,002 (GRCm39)	Y597H	probably benign	Het
Yy1	CGGG	CGGGGGGGGG	12: 108,759,916 (GRCm39)		probably benign	Het
Zfp54	T	A	17: 21,654,404 (GRCm39)	Y299*	probably null	Het
Zfp566	T	G	7: 29,777,927 (GRCm39)	S85R	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
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
R2157:Pak5	UTSW	2	135,942,877 (GRCm39)	missense	probably damaging	0.96
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'- AGGACCACTATGCCTCTGAG -3'
(R):5'- GCTGCAGGAGTTGAAGACTG -3'

Sequencing Primer
(F):5'- CACTATGCCTCTGAGCAGATC -3'
(R):5'- CTGATAGGAAAGGTTCTGGTAATTTC -3'

Posted On

2014-06-23