Mutagenetix > Incidental Mutation

Incidental Mutation 'R9177:Pak5'

696728

Institutional Source

Beutler Lab

Gene Symbol

Pak5

Ensembl Gene

ENSMUSG00000039913

Gene Name

p21 (RAC1) activated kinase 5

Synonyms

Pak5, Pak7, 2900083L08Rik

MMRRC Submission

068949-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9177 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

135923024-136229887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 135943126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 338 (M338R)

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: M338R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000047285
Gene: ENSMUSG00000039913
AA Change: M338R

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: M338R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000076440
Gene: ENSMUSG00000039913
AA Change: M338R

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: 99.1%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,775,677 (GRCm39)	V1622D	probably damaging	Het
Acadsb	C	T	7: 131,033,763 (GRCm39)	T260I	probably damaging	Het
Acap2	A	T	16: 30,955,392 (GRCm39)	V161E	probably damaging	Het
Alk	T	C	17: 72,181,190 (GRCm39)	T1367A	probably damaging	Het
Atg2a	A	C	19: 6,291,905 (GRCm39)	H27P	probably damaging	Het
Atp2c1	C	T	9: 105,336,858 (GRCm39)		probably null	Het
C1s1	T	G	6: 124,508,362 (GRCm39)	K542N	probably damaging	Het
Camk1d	A	G	2: 5,303,901 (GRCm39)	S351P	probably benign	Het
Carf	C	A	1: 60,148,558 (GRCm39)	Q85K	possibly damaging	Het
Caskin2	T	C	11: 115,698,683 (GRCm39)	N43S	probably damaging	Het
Cd40	T	C	2: 164,905,465 (GRCm39)	C161R	probably damaging	Het
Cdh19	A	G	1: 110,877,111 (GRCm39)	F76S	probably damaging	Het
Cdkl1	T	C	12: 69,794,100 (GRCm39)	N346D	probably benign	Het
Cdon	A	G	9: 35,381,230 (GRCm39)	D540G	probably benign	Het
Cep164	T	A	9: 45,691,060 (GRCm39)	E379V	probably damaging	Het
Clock	T	C	5: 76,377,256 (GRCm39)	N681S	probably benign	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Col6a5	T	G	9: 105,808,152 (GRCm39)	K965N	unknown	Het
Dctn4	T	A	18: 60,659,304 (GRCm39)	M1K	probably null	Het
Dhx30	T	C	9: 109,915,750 (GRCm39)	D741G	probably damaging	Het
Dhx37	A	G	5: 125,507,958 (GRCm39)	V104A	probably benign	Het
Dnah12	A	G	14: 26,571,255 (GRCm39)	K2788R	possibly damaging	Het
Egfr	T	A	11: 16,855,410 (GRCm39)	D898E	probably damaging	Het
Eif2ak4	G	C	2: 118,271,701 (GRCm39)		probably null	Het
Eif6	A	G	2: 155,665,852 (GRCm39)	L101P	probably damaging	Het
Etaa1	A	T	11: 17,896,419 (GRCm39)	V566E	probably damaging	Het
Far2	C	T	6: 148,060,418 (GRCm39)	T257I	probably benign	Het
Fuca2	G	A	10: 13,390,563 (GRCm39)	W453*	probably null	Het
Galntl6	A	T	8: 58,310,590 (GRCm39)	Y370*	probably null	Het
Gcn1	T	C	5: 115,719,867 (GRCm39)	V374A	probably benign	Het
Hjv	T	C	3: 96,435,881 (GRCm39)	F380L	probably benign	Het
Hycc2	T	C	1: 58,591,361 (GRCm39)	D94G	probably damaging	Het
Ifi202b	A	T	1: 173,804,949 (GRCm39)	M1K	probably null	Het
Lama4	A	G	10: 38,950,688 (GRCm39)	Y997C	probably damaging	Het
Lepr	T	A	4: 101,602,798 (GRCm39)	C195*	probably null	Het
Lrrc37	T	A	11: 103,508,263 (GRCm39)	H1235L	unknown	Het
Lrrc73	T	C	17: 46,565,535 (GRCm39)	S89P	probably benign	Het
Macf1	T	C	4: 123,367,582 (GRCm39)	E2393G	probably damaging	Het
Mdga2	T	A	12: 66,517,481 (GRCm39)	T118S	possibly damaging	Het
Msantd5f3	T	C	4: 73,575,373 (GRCm39)	S351P	probably damaging	Het
Mtf2	A	G	5: 108,234,949 (GRCm39)	K124R	probably benign	Het
Muc5b	T	C	7: 141,399,075 (GRCm39)	Y339H	unknown	Het
Nes	G	A	3: 87,887,012 (GRCm39)	G1757E	probably damaging	Het
Nfatc4	A	T	14: 56,064,685 (GRCm39)	I391F	probably damaging	Het
Nup93	A	T	8: 94,954,371 (GRCm39)	I23F	probably benign	Het
Or4a27	A	C	2: 88,559,174 (GRCm39)	Y256*	probably null	Het
Or5h17	T	G	16: 58,820,083 (GRCm39)	F12V	probably damaging	Het
Or6y1	A	C	1: 174,276,923 (GRCm39)	T245P	probably damaging	Het
Or7g16	G	T	9: 18,726,742 (GRCm39)	Q283K	probably damaging	Het
Or9i14	A	T	19: 13,792,388 (GRCm39)	C189S	probably damaging	Het
Papola	A	G	12: 105,766,032 (GRCm39)	E44G	probably benign	Het
Pcdh15	A	T	10: 74,479,455 (GRCm39)	E522V	probably benign	Het
Peli2	A	G	14: 48,518,927 (GRCm39)	E225G	probably benign	Het
Pla2g1b	T	G	5: 115,612,595 (GRCm39)	I117S	probably damaging	Het
Plxnd1	G	T	6: 115,943,469 (GRCm39)	Q1246K	probably benign	Het
Pole	A	G	5: 110,480,288 (GRCm39)	E1953G	probably benign	Het
Pus7l	T	C	15: 94,431,445 (GRCm39)	I395V	probably benign	Het
Shisa7	T	G	7: 4,837,333 (GRCm39)	D244A	probably damaging	Het
Slco3a1	T	C	7: 73,952,946 (GRCm39)	T538A	probably benign	Het
Syk	T	A	13: 52,766,480 (GRCm39)	N188K	probably benign	Het
Tcf20	A	G	15: 82,740,705 (GRCm39)	S249P	probably benign	Het
Tmem25	T	C	9: 44,709,529 (GRCm39)	T91A	possibly damaging	Het
Trank1	T	C	9: 111,221,579 (GRCm39)	V2772A	probably benign	Het
Ttn	A	T	2: 76,596,447 (GRCm39)	Y20155*	probably null	Het
Uchl4	C	T	9: 64,142,986 (GRCm39)	H156Y	probably benign	Het
Ulbp1	A	T	10: 7,396,392 (GRCm39)	L295Q	unknown	Het
Vwf	G	A	6: 125,581,254 (GRCm39)	A631T		Het
Zfp810	C	T	9: 22,189,936 (GRCm39)	C324Y	probably damaging	Het
Zswim8	T	C	14: 20,761,908 (GRCm39)	L227P	probably damaging	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
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
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'- AGGTGCTCGAGGAGATACTG -3'
(R):5'- ATCAACTAAGCCCGTGGTTGG -3'

Sequencing Primer
(F):5'- CTCGAGGAGATACTGAGAGAGC -3'
(R):5'- CTAAGCCCGTGGTTGGAGGTAG -3'

Posted On

2022-02-07