Mutagenetix > Incidental Mutation

Incidental Mutation 'R4693:Pak4'

355029

Institutional Source

Beutler Lab

Gene Symbol

Pak4

Ensembl Gene

ENSMUSG00000030602

Gene Name

p21 (RAC1) activated kinase 4

Synonyms

5730488L07Rik

MMRRC Submission

041944-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4693 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28258244-28297609 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28263674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 354 (M354K)

Ref Sequence

ENSEMBL: ENSMUSP00000103918 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032823] [ENSMUST00000040531] [ENSMUST00000108283]

AlphaFold

Q8BTW9

Predicted Effect

probably damaging
Transcript: ENSMUST00000032823
AA Change: M354K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032823
Gene: ENSMUSG00000030602
AA Change: M354K

Domain	Start	End	E-Value	Type
PBD	11	46	4.07e-14	SMART
low complexity region	238	258	N/A	INTRINSIC
low complexity region	267	300	N/A	INTRINSIC
S_TKc	323	574	1.21e-90	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000040531

SMART Domains

Protein: ENSMUSP00000040486
Gene: ENSMUSG00000109336

Domain	Start	End	E-Value	Type
low complexity region	81	90	N/A	INTRINSIC
low complexity region	174	190	N/A	INTRINSIC
low complexity region	200	211	N/A	INTRINSIC
low complexity region	278	290	N/A	INTRINSIC
SAM	296	359	1.02e-9	SMART
low complexity region	406	420	N/A	INTRINSIC
low complexity region	433	461	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108283
AA Change: M354K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103918
Gene: ENSMUSG00000030602
AA Change: M354K

Domain	Start	End	E-Value	Type
PBD	11	46	4.07e-14	SMART
low complexity region	238	258	N/A	INTRINSIC
low complexity region	267	300	N/A	INTRINSIC
S_TKc	323	574	1.21e-90	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135923

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183983

Meta Mutation Damage Score

0.8691

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PAK proteins, a family of serine/threonine p21-activating kinases, include PAK1, PAK2, PAK3 and PAK4. PAK proteins are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. They serve as targets for the small GTP binding proteins Cdc42 and Rac and have been implicated in a wide range of biological activities. PAK4 interacts specifically with the GTP-bound form of Cdc42Hs and weakly activates the JNK family of MAP kinases. PAK4 is a mediator of filopodia formation and may play a role in the reorganization of the actin cytoskeleton. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice die at midgestation exhibiting heart defects as well as impaired neuronal development and yolk sac vasculature. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	T	C	17: 85,004,125 (GRCm39)	Y478H	probably damaging	Het
Adar	A	T	3: 89,643,247 (GRCm39)	H128L	probably damaging	Het
Angptl6	G	T	9: 20,786,598 (GRCm39)	D349E	probably damaging	Het
Anxa9	T	C	3: 95,204,667 (GRCm39)	T286A	probably benign	Het
Apobr	A	G	7: 126,186,019 (GRCm39)	N510S	probably damaging	Het
Atoh7	G	T	10: 62,936,275 (GRCm39)	R114L	probably benign	Het
Bank1	C	G	3: 135,953,437 (GRCm39)	R106P	probably damaging	Het
Best1	C	T	19: 9,974,499 (GRCm39)	G15D	probably damaging	Het
Best2	A	T	8: 85,737,832 (GRCm39)	F188I	probably damaging	Het
Ccdc88a	T	C	11: 29,432,241 (GRCm39)	Y344H	probably damaging	Het
Col6a5	A	G	9: 105,814,371 (GRCm39)	L547P	unknown	Het
Cyp19a1	A	T	9: 54,080,617 (GRCm39)	S247T	possibly damaging	Het
Cyp26a1	T	C	19: 37,686,925 (GRCm39)	S126P	probably benign	Het
Dab1	G	T	4: 104,536,750 (GRCm39)	C180F	probably damaging	Het
Dclk2	T	C	3: 86,722,400 (GRCm39)	D412G	possibly damaging	Het
Dspp	A	T	5: 104,325,928 (GRCm39)	S764C	unknown	Het
Dync1li1	C	A	9: 114,535,166 (GRCm39)	D143E	probably damaging	Het
Esm1	A	T	13: 113,346,594 (GRCm39)	D73V	probably damaging	Het
Etfdh	A	T	3: 79,513,110 (GRCm39)	V431E	probably damaging	Het
Fam83c	C	T	2: 155,672,154 (GRCm39)	R427H	probably damaging	Het
Galnt9	A	G	5: 110,763,375 (GRCm39)	Y93C	probably damaging	Het
Gm6818	G	A	7: 38,100,126 (GRCm39)		noncoding transcript	Het
Gosr2	A	G	11: 103,574,755 (GRCm39)	S114P	probably benign	Het
Grip1	G	A	10: 119,836,459 (GRCm39)	V444I	probably benign	Het
Gvin-ps3	T	G	7: 105,681,585 (GRCm39)		noncoding transcript	Het
Haus4	G	T	14: 54,787,256 (GRCm39)	A67E	probably benign	Het
Hectd2	T	A	19: 36,591,738 (GRCm39)		probably benign	Het
Kndc1	T	C	7: 139,501,695 (GRCm39)	Y911H	probably benign	Het
Lim2	T	C	7: 43,080,105 (GRCm39)	Y31H	probably damaging	Het
Lims2	G	A	18: 32,077,552 (GRCm39)	R101H	probably benign	Het
Lrrc2	T	A	9: 110,799,161 (GRCm39)	M236K	probably damaging	Het
Lrrc37	T	A	11: 103,510,686 (GRCm39)	E427D	unknown	Het
Lrrk1	T	C	7: 65,912,235 (GRCm39)	Y1775C	probably damaging	Het
Mdga2	A	G	12: 66,844,407 (GRCm39)	V197A	possibly damaging	Het
Mfhas1	T	A	8: 36,056,329 (GRCm39)	L268Q	probably damaging	Het
Mlh1	A	G	9: 111,084,726 (GRCm39)	I216T	probably damaging	Het
Mrc2	G	A	11: 105,234,528 (GRCm39)	C1016Y	probably benign	Het
Mvp	C	A	7: 126,597,500 (GRCm39)	V168F	probably damaging	Het
Mybphl	A	G	3: 108,282,494 (GRCm39)	T176A	probably benign	Het
Myt1	T	A	2: 181,437,532 (GRCm39)	L81Q	probably damaging	Het
Ncbp3	T	C	11: 72,966,503 (GRCm39)	L453S	probably benign	Het
Or4c1	T	A	2: 89,133,621 (GRCm39)	E105V	probably benign	Het
Or4c114	T	C	2: 88,905,412 (GRCm39)	T8A	possibly damaging	Het
Or55b10	T	A	7: 102,143,659 (GRCm39)	I108F	probably damaging	Het
Or5b125-ps1	C	A	19: 13,056,226 (GRCm39)		noncoding transcript	Het
Or5l14	A	T	2: 87,793,053 (GRCm39)	F61Y	probably benign	Het
Pax3	T	C	1: 78,173,383 (GRCm39)	T2A	probably benign	Het
Pcdh17	A	G	14: 84,770,960 (GRCm39)	D1146G	probably damaging	Het
Pcyt1a	T	C	16: 32,289,042 (GRCm39)		probably benign	Het
Pfkp	C	T	13: 6,650,671 (GRCm39)	G467D	possibly damaging	Het
Plin4	C	A	17: 56,410,762 (GRCm39)	G1090C	probably damaging	Het
Pth1r	A	G	9: 110,560,692 (GRCm39)	V25A	probably damaging	Het
Ptk2b	C	T	14: 66,394,518 (GRCm39)	G859S	probably benign	Het
Ptprf	T	A	4: 118,068,219 (GRCm39)	E1772D	probably benign	Het
Sall2	T	C	14: 52,551,935 (GRCm39)	H420R	probably damaging	Het
Sbds	G	A	5: 130,279,816 (GRCm39)	R63W	probably damaging	Het
Sccpdh	A	G	1: 179,495,975 (GRCm39)	T19A	possibly damaging	Het
Scn8a	A	T	15: 100,913,572 (GRCm39)	D988V	probably damaging	Het
Slamf6	C	T	1: 171,761,680 (GRCm39)	Q34*	probably null	Het
Slc22a6	T	A	19: 8,601,016 (GRCm39)	I403N	probably damaging	Het
Sox5	T	C	6: 143,781,042 (GRCm39)	Y574C	probably damaging	Het
Sptbn5	T	A	2: 119,889,897 (GRCm39)		probably benign	Het
Srcap	T	A	7: 127,137,716 (GRCm39)	V1022E	probably damaging	Het
Tbx3	G	A	5: 119,815,635 (GRCm39)	E292K	possibly damaging	Het
Tbx5	A	T	5: 119,979,964 (GRCm39)	H170L	probably damaging	Het
Tcf12	A	T	9: 71,776,249 (GRCm39)		probably benign	Het
Themis	G	A	10: 28,658,647 (GRCm39)	R558H	probably damaging	Het
Tiam1	T	C	16: 89,640,170 (GRCm39)	E849G	possibly damaging	Het
Vav3	A	G	3: 109,470,534 (GRCm39)		probably benign	Het
Vmn2r90	T	A	17: 17,953,956 (GRCm39)	C707S	possibly damaging	Het
Vmn2r96	T	G	17: 18,803,270 (GRCm39)	N201K	probably benign	Het
Zfp148	C	T	16: 33,288,505 (GRCm39)	R207C	probably damaging	Het
Zfp648	G	T	1: 154,080,152 (GRCm39)	A104S	probably benign	Het

Other mutations in Pak4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0025:Pak4	UTSW	7	28,263,708 (GRCm39)	missense	probably damaging	1.00
R0531:Pak4	UTSW	7	28,267,479 (GRCm39)	missense	possibly damaging	0.69
R0893:Pak4	UTSW	7	28,259,202 (GRCm39)	missense	probably benign	0.21
R1108:Pak4	UTSW	7	28,259,667 (GRCm39)	missense	probably damaging	1.00
R1801:Pak4	UTSW	7	28,264,615 (GRCm39)	missense	probably damaging	1.00
R1844:Pak4	UTSW	7	28,264,690 (GRCm39)	missense	possibly damaging	0.88
R3108:Pak4	UTSW	7	28,263,769 (GRCm39)	nonsense	probably null
R5320:Pak4	UTSW	7	28,267,631 (GRCm39)	missense	probably damaging	0.98
R5357:Pak4	UTSW	7	28,263,831 (GRCm39)	missense	probably damaging	0.99
R5724:Pak4	UTSW	7	28,264,005 (GRCm39)	missense	possibly damaging	0.94
R6047:Pak4	UTSW	7	28,262,461 (GRCm39)	missense	probably benign	0.34
R6161:Pak4	UTSW	7	28,264,692 (GRCm39)	missense	possibly damaging	0.95
R6241:Pak4	UTSW	7	28,264,690 (GRCm39)	missense	possibly damaging	0.88
R6820:Pak4	UTSW	7	28,262,461 (GRCm39)	missense	probably benign	0.34
R7262:Pak4	UTSW	7	28,264,625 (GRCm39)	missense	possibly damaging	0.60
R7338:Pak4	UTSW	7	28,264,381 (GRCm39)	missense	probably benign	0.37
R7681:Pak4	UTSW	7	28,259,655 (GRCm39)	missense	probably damaging	1.00
R8709:Pak4	UTSW	7	28,261,969 (GRCm39)	missense	probably benign	0.02
R9038:Pak4	UTSW	7	28,264,263 (GRCm39)	missense	probably damaging	1.00
R9369:Pak4	UTSW	7	28,260,240 (GRCm39)	missense	probably damaging	0.99
Z1088:Pak4	UTSW	7	28,264,653 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGACAGAGCATCCCAGAGAC -3'
(R):5'- ACATACCATGGCCCCTAATGG -3'

Sequencing Primer
(F):5'- TCTGGAGGAGAACACAGGCC -3'
(R):5'- AGGAGTTCTGGGTCCCCATG -3'

Posted On

2015-10-21