Mutagenetix > Incidental Mutation

Incidental Mutation 'R1801:Pak4'

203135

Institutional Source

Beutler Lab

Gene Symbol

Pak4

Ensembl Gene

ENSMUSG00000030602

Gene Name

p21 (RAC1) activated kinase 4

Synonyms

5730488L07Rik

MMRRC Submission

039831-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1801 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28258244-28297609 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 28264615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 96 (R96C)

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: R96C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032823
Gene: ENSMUSG00000030602
AA Change: R96C

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: R96C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103918
Gene: ENSMUSG00000030602
AA Change: R96C

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: ENSMUST00000150454

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183983

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.5%

Validation Efficiency

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
2610008E11Rik	T	C	10: 78,903,230 (GRCm39)	E362G	probably damaging	Het
Abcc5	T	C	16: 20,157,637 (GRCm39)	M1307V	probably benign	Het
Adam34l	A	T	8: 44,078,954 (GRCm39)	C423*	probably null	Het
Adamts9	A	G	6: 92,840,357 (GRCm39)	V1142A	probably benign	Het
Ano10	T	C	9: 122,082,096 (GRCm39)	N525S	probably damaging	Het
Bpifa2	T	C	2: 153,853,424 (GRCm39)		probably null	Het
C7	C	T	15: 5,041,503 (GRCm39)	V468I	possibly damaging	Het
Carf	A	T	1: 60,180,664 (GRCm39)	H362L	possibly damaging	Het
Ccdc171	A	C	4: 83,465,132 (GRCm39)	I37L	probably benign	Het
Ccdc182	T	C	11: 88,185,016 (GRCm39)	L32P	possibly damaging	Het
Celsr3	A	T	9: 108,711,825 (GRCm39)	D1678V	possibly damaging	Het
Col7a1	A	T	9: 108,790,065 (GRCm39)	Y920F	unknown	Het
Cpsf3	T	C	12: 21,363,791 (GRCm39)	V627A	probably benign	Het
D7Ertd443e	A	G	7: 133,871,941 (GRCm39)	M640T	probably damaging	Het
Ddi2	T	C	4: 141,411,283 (GRCm39)	D543G	probably damaging	Het
Dnah9	T	C	11: 65,846,123 (GRCm39)	N2972D	probably damaging	Het
Dnajc18	T	C	18: 35,813,857 (GRCm39)	D304G	probably damaging	Het
Epg5	T	C	18: 78,026,705 (GRCm39)	V1232A	possibly damaging	Het
Ezr	T	C	17: 7,009,771 (GRCm39)	T358A	possibly damaging	Het
Filip1	A	G	9: 79,723,128 (GRCm39)	S1164P	probably damaging	Het
Gmip	T	C	8: 70,267,127 (GRCm39)	V341A	probably benign	Het
Gnb3	A	C	6: 124,812,599 (GRCm39)	F286V	probably benign	Het
Gpatch2	T	A	1: 186,958,028 (GRCm39)	S128T	probably benign	Het
Gpr87	T	C	3: 59,086,813 (GRCm39)	R231G	possibly damaging	Het
Hip1r	G	A	5: 124,136,871 (GRCm39)	R613Q	probably benign	Het
Hsd3b7	T	C	7: 127,402,206 (GRCm39)	Y284H	possibly damaging	Het
Il1rap	A	T	16: 26,517,625 (GRCm39)	D275V	probably damaging	Het
Il4	G	T	11: 53,509,365 (GRCm39)	H23Q	possibly damaging	Het
Kit	A	G	5: 75,809,053 (GRCm39)	Y749C	probably damaging	Het
Klb	A	G	5: 65,506,578 (GRCm39)	K275R	probably null	Het
Klhl12	G	T	1: 134,416,808 (GRCm39)	R510L	probably damaging	Het
Lrrc8b	A	G	5: 105,628,689 (GRCm39)	Y345C	probably damaging	Het
Med15	T	C	16: 17,498,599 (GRCm39)	T98A	possibly damaging	Het
Mmp1a	T	A	9: 7,475,391 (GRCm39)	Y387N	probably damaging	Het
Myrf	C	A	19: 10,191,555 (GRCm39)	V928L	probably benign	Het
Nr1d1	T	C	11: 98,662,325 (GRCm39)	K134E	probably damaging	Het
Nrxn3	A	T	12: 90,250,356 (GRCm39)	D305V	probably damaging	Het
Obscn	A	C	11: 58,889,147 (GRCm39)	S7542A	unknown	Het
Or4a27	T	A	2: 88,559,608 (GRCm39)	I112F	probably damaging	Het
Pde6b	A	T	5: 108,575,713 (GRCm39)	D691V	possibly damaging	Het
Pdss2	A	G	10: 43,221,601 (GRCm39)	E171G	probably benign	Het
Pdzd2	C	T	15: 12,387,740 (GRCm39)	V873I	possibly damaging	Het
Plb1	A	T	5: 32,450,587 (GRCm39)	D376V	probably damaging	Het
Plekhg1	T	C	10: 3,913,904 (GRCm39)	Y1209H	probably damaging	Het
Prickle2	A	G	6: 92,393,885 (GRCm39)	C263R	probably damaging	Het
Psma2	A	T	13: 14,798,190 (GRCm39)	Y104F	probably benign	Het
Ptger4	T	A	15: 5,272,281 (GRCm39)	M113L	possibly damaging	Het
Rgs10	T	G	7: 128,006,201 (GRCm39)	D17A	possibly damaging	Het
Rpap3	A	G	15: 97,592,090 (GRCm39)	S189P	possibly damaging	Het
Rsbn1	T	C	3: 103,822,188 (GRCm39)	L102P	probably damaging	Het
Ryr2	T	C	13: 11,610,167 (GRCm39)	S655G	probably benign	Het
Samd4b	A	T	7: 28,106,756 (GRCm39)		probably null	Het
Sema4a	C	T	3: 88,344,056 (GRCm39)	D732N	probably benign	Het
Sh3bp5l	A	G	11: 58,237,177 (GRCm39)	D378G	probably benign	Het
Sh3gl3	C	T	7: 81,933,327 (GRCm39)	T230I	possibly damaging	Het
Slc28a2b	C	T	2: 122,352,133 (GRCm39)	R324C	possibly damaging	Het
Slc5a1	A	T	5: 33,304,297 (GRCm39)	Q299L	probably damaging	Het
Ssc5d	C	A	7: 4,939,606 (GRCm39)	H681N	probably benign	Het
Sugp2	T	C	8: 70,689,360 (GRCm39)	S10P	possibly damaging	Het
Supt5	A	G	7: 28,016,639 (GRCm39)		probably null	Het
Syna	A	G	5: 134,588,943 (GRCm39)	V2A	probably benign	Het
Tcp1	T	A	17: 13,141,089 (GRCm39)	Y299*	probably null	Het
Tenm3	C	A	8: 48,729,291 (GRCm39)	V1572L	probably benign	Het
Tent4b	T	G	8: 88,977,416 (GRCm39)	V406G	probably benign	Het
Trp53rka	A	G	2: 165,333,533 (GRCm39)	S119P	probably damaging	Het
Ubr4	T	A	4: 139,179,874 (GRCm39)		probably null	Het
Uchl4	T	A	9: 64,142,757 (GRCm39)	D79E	probably benign	Het
Vmn2r17	C	A	5: 109,576,344 (GRCm39)	T405K	probably damaging	Het
Xpnpep1	A	G	19: 52,998,564 (GRCm39)	L228P	probably damaging	Het
Xrcc4	T	G	13: 90,140,698 (GRCm39)	E170D	probably damaging	Het
Zfp945	T	C	17: 23,070,736 (GRCm39)	T388A	probably damaging	Het
Zfp947	G	A	17: 22,365,443 (GRCm39)	A77V	probably benign	Het
Zkscan5	G	A	5: 145,157,015 (GRCm39)	G433R	probably damaging	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
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
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'- ATCCCTCGAAGATTTGGGCC -3'
(R):5'- AGGCTATCACCTCACCTGTC -3'

Sequencing Primer
(F):5'- CGAAGATTTGGGCCTTTTCTC -3'
(R):5'- ACCTGTCTCTGTCTTGTTTCTGTG -3'

Posted On

2014-06-23