Mutagenetix > Incidental Mutation

Incidental Mutation 'R6820:Pak4'

537565

Institutional Source

Beutler Lab

Gene Symbol

Pak4

Ensembl Gene

ENSMUSG00000030602

Gene Name

p21 (RAC1) activated kinase 4

Synonyms

5730488L07Rik

MMRRC Submission

044932-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6820 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28258244-28297609 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28262461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 384 (Y384H)

Ref Sequence

ENSEMBL: ENSMUSP00000103918 (fasta)

Gene Model

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

AlphaFold

Q8BTW9

Predicted Effect

probably benign
Transcript: ENSMUST00000032823
AA Change: Y384H

PolyPhen 2 Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000032823
Gene: ENSMUSG00000030602
AA Change: Y384H

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 benign
Transcript: ENSMUST00000108283
AA Change: Y384H

PolyPhen 2 Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000103918
Gene: ENSMUSG00000030602
AA Change: Y384H

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: ENSMUST00000183983

Meta Mutation Damage Score

0.9134

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (46/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	T	A	2: 93,673,266 (GRCm39)	N141Y	probably null	Het
Chkb	A	G	15: 89,312,379 (GRCm39)	L46P	probably damaging	Het
Col9a3	G	A	2: 180,248,927 (GRCm39)	V260M	probably damaging	Het
Dna2	T	C	10: 62,800,683 (GRCm39)	I739T	possibly damaging	Het
Dnah17	T	C	11: 117,959,826 (GRCm39)	H2620R	probably damaging	Het
Dsel	A	G	1: 111,787,547 (GRCm39)	V996A	probably damaging	Het
Dst	T	C	1: 34,250,337 (GRCm39)	L1757S	probably damaging	Het
Exoc5	A	T	14: 49,286,387 (GRCm39)		probably null	Het
Fam120a	A	T	13: 49,034,468 (GRCm39)	V1048E	possibly damaging	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Fbxw19	T	A	9: 109,311,079 (GRCm39)	T377S	probably benign	Het
Fbxw28	A	T	9: 109,167,493 (GRCm39)	F88Y	probably damaging	Het
Grik5	C	T	7: 24,745,780 (GRCm39)	R431Q	possibly damaging	Het
Gtsf1	T	C	15: 103,328,954 (GRCm39)	T92A	probably benign	Het
Hoxc13	A	G	15: 102,830,257 (GRCm39)	Y212C	probably damaging	Het
Itih2	T	C	2: 10,102,909 (GRCm39)	I742V	probably benign	Het
Kat7	T	C	11: 95,174,965 (GRCm39)	T351A	probably damaging	Het
Mlh3	T	C	12: 85,294,497 (GRCm39)	D1233G	probably damaging	Het
Mroh2b	A	G	15: 4,982,756 (GRCm39)	D1525G	probably damaging	Het
Nme5	T	C	18: 34,704,626 (GRCm39)	Y73C	probably damaging	Het
Nr3c2	T	C	8: 77,969,086 (GRCm39)	V957A	probably damaging	Het
Nup153	A	G	13: 46,863,459 (GRCm39)	S301P	probably benign	Het
Obscn	T	C	11: 58,942,019 (GRCm39)	D5013G	probably damaging	Het
Or4f54	C	T	2: 111,123,455 (GRCm39)	P281S	probably damaging	Het
Or5p51	A	G	7: 107,444,298 (GRCm39)	V214A	probably benign	Het
Or8g51	A	G	9: 38,608,771 (GRCm39)	V297A	possibly damaging	Het
Pak1	A	G	7: 97,535,586 (GRCm39)	N226D	probably benign	Het
Pkp3	T	C	7: 140,659,757 (GRCm39)		probably null	Het
Prxl2b	A	T	4: 154,982,623 (GRCm39)	D50E	probably damaging	Het
Psd	G	T	19: 46,309,283 (GRCm39)	A558E	probably damaging	Het
Psmd14	C	A	2: 61,607,068 (GRCm39)	H172N	probably benign	Het
Pygb	G	T	2: 150,658,674 (GRCm39)	W366L	possibly damaging	Het
Rbm39	A	T	2: 156,021,146 (GRCm39)	M1K	probably null	Het
Rnf213	T	C	11: 119,339,664 (GRCm39)	I3421T	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Smg6	T	C	11: 74,932,790 (GRCm39)	V88A	probably damaging	Het
Tha1	T	C	11: 117,762,504 (GRCm39)	E80G	probably benign	Het
Tie1	A	G	4: 118,341,583 (GRCm39)	V243A	probably damaging	Het
Tmem215	T	C	4: 40,473,926 (GRCm39)	M1T	probably null	Het
Tpm2	A	G	4: 43,518,443 (GRCm39)	Y221H	probably damaging	Het
Ubap1	C	T	4: 41,379,854 (GRCm39)	P356L	probably benign	Het
Wbp2nl	G	T	15: 82,197,996 (GRCm39)	A178S	possibly damaging	Het
Wdr54	A	T	6: 83,131,601 (GRCm39)	S139T	probably benign	Het
Wipi2	G	C	5: 142,615,555 (GRCm39)	Q14H	probably benign	Het
Zan	T	C	5: 137,406,106 (GRCm39)		probably benign	Het
Zfp735	A	G	11: 73,579,783 (GRCm39)	M1V	probably null	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
R4693:Pak4	UTSW	7	28,263,674 (GRCm39)	missense	probably damaging	1.00
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
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'- GGCACTTGTCTATCACCAGAG -3'
(R):5'- GTATCCCTAGAATGAAGTCGCCC -3'

Sequencing Primer
(F):5'- TTGTCTATCACCAGAGCCTAAAGGG -3'
(R):5'- CTAGAATGAAGTCGCCCACAGG -3'

Posted On

2018-10-18