Mutagenetix > Incidental Mutation

Incidental Mutation 'R0893:Pak4'

83583

Institutional Source

Beutler Lab

Gene Symbol

Pak4

Ensembl Gene

ENSMUSG00000030602

Gene Name

p21 (RAC1) activated kinase 4

Synonyms

5730488L07Rik

MMRRC Submission

039056-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0893 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28258244-28297609 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28259202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 552 (D552G)

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: D552G

PolyPhen 2 Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000032823
Gene: ENSMUSG00000030602
AA Change: D552G

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: D552G

PolyPhen 2 Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000103918
Gene: ENSMUSG00000030602
AA Change: D552G

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

0.2092

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 95.1%

Validation Efficiency

99% (77/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,266,082 (GRCm39)		probably benign	Het
Adnp	A	T	2: 168,025,647 (GRCm39)	F549L	possibly damaging	Het
Agl	A	G	3: 116,546,935 (GRCm39)	I1305T	probably benign	Het
Aldh8a1	T	A	10: 21,267,593 (GRCm39)	M326K	probably benign	Het
Amdhd1	A	T	10: 93,363,513 (GRCm39)	M295K	probably damaging	Het
Arhgef4	T	A	1: 34,846,191 (GRCm39)	C324S	probably damaging	Het
Car8	A	T	4: 8,238,119 (GRCm39)		probably null	Het
Cc2d1a	T	C	8: 84,867,468 (GRCm39)		probably benign	Het
Cd81	G	A	7: 142,616,242 (GRCm39)	V27M	possibly damaging	Het
Ces1b	A	T	8: 93,806,056 (GRCm39)	S62T	probably benign	Het
Cfb	A	G	17: 35,077,031 (GRCm39)	S30P	probably damaging	Het
Cmtm3	A	G	8: 105,070,543 (GRCm39)	M101V	possibly damaging	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Ddb1	C	T	19: 10,590,280 (GRCm39)	S269L	probably benign	Het
Ddx25	G	A	9: 35,465,686 (GRCm39)	Q143*	probably null	Het
Dis3l2	T	A	1: 86,971,928 (GRCm39)		probably null	Het
Dlgap4	G	T	2: 156,587,898 (GRCm39)	E598*	probably null	Het
Dus1l	C	T	11: 120,680,262 (GRCm39)	G471D	possibly damaging	Het
Elp4	C	A	2: 105,727,290 (GRCm39)		probably benign	Het
Eya3	A	G	4: 132,417,097 (GRCm39)	N194S	probably benign	Het
Golgb1	G	T	16: 36,732,639 (GRCm39)	V629L	possibly damaging	Het
Hars2	G	A	18: 36,920,648 (GRCm39)	A164T	possibly damaging	Het
Hexb	T	A	13: 97,322,135 (GRCm39)	I217L	probably benign	Het
Hgh1	A	G	15: 76,253,848 (GRCm39)		probably null	Het
Hsd3b3	A	T	3: 98,649,757 (GRCm39)		probably null	Het
Ighg2c	T	A	12: 113,251,053 (GRCm39)	N321Y	unknown	Het
Il5	A	G	11: 53,611,763 (GRCm39)	T34A	probably benign	Het
Jph1	C	A	1: 17,074,507 (GRCm39)	E504*	probably null	Het
Kif2b	G	T	11: 91,466,420 (GRCm39)	T621K	probably benign	Het
Kmt2c	A	T	5: 25,556,268 (GRCm39)		probably benign	Het
Leprotl1	A	G	8: 34,606,006 (GRCm39)		probably null	Het
Lpar3	C	T	3: 145,946,348 (GRCm39)	R9C	possibly damaging	Het
Map1a	A	G	2: 121,131,014 (GRCm39)	E372G	probably damaging	Het
Map2	C	A	1: 66,419,927 (GRCm39)	T86K	probably damaging	Het
Map7	A	G	10: 20,149,629 (GRCm39)		probably null	Het
Mdn1	T	C	4: 32,701,713 (GRCm39)	V1482A	probably benign	Het
Mks1	G	A	11: 87,747,777 (GRCm39)		probably benign	Het
Morf4l1	T	G	9: 89,984,403 (GRCm39)	K102N	probably damaging	Het
Mroh1	T	A	15: 76,293,138 (GRCm39)	V304D	possibly damaging	Het
Mtg1	G	A	7: 139,729,665 (GRCm39)	V252M	probably damaging	Het
Myh13	A	T	11: 67,225,427 (GRCm39)	D264V	probably damaging	Het
Myh2	A	G	11: 67,077,334 (GRCm39)	Y823C	possibly damaging	Het
Myoz1	A	T	14: 20,701,252 (GRCm39)	S112R	probably benign	Het
Ncapd2	A	G	6: 125,150,445 (GRCm39)	V860A	probably benign	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Npffr1	T	C	10: 61,450,010 (GRCm39)	F95L	possibly damaging	Het
Or51f1e	G	T	7: 102,747,641 (GRCm39)	R231L	probably benign	Het
Or8b9	T	C	9: 37,766,492 (GRCm39)	I126T	probably damaging	Het
Orc4	A	C	2: 48,822,622 (GRCm39)		probably benign	Het
P3h3	A	C	6: 124,822,476 (GRCm39)	I565R	probably damaging	Het
Pcdhb4	G	T	18: 37,442,423 (GRCm39)		probably null	Het
Pdcd4	G	T	19: 53,917,525 (GRCm39)	R454L	probably damaging	Het
Phf8-ps	T	C	17: 33,284,263 (GRCm39)	I846M	probably benign	Het
Pkd1l2	A	G	8: 117,771,231 (GRCm39)	I1116T	probably damaging	Het
Plcb2	A	G	2: 118,555,586 (GRCm39)		probably benign	Het
Pmpca	T	C	2: 26,283,230 (GRCm39)		probably benign	Het
Pnpla7	T	A	2: 24,887,252 (GRCm39)	I32N	probably damaging	Het
Prpf8	A	G	11: 75,384,775 (GRCm39)	K718E	probably damaging	Het
Racgap1	C	T	15: 99,524,411 (GRCm39)	A359T	probably benign	Het
Rgs3	G	A	4: 62,523,798 (GRCm39)		probably null	Het
Rhpn1	A	G	15: 75,583,503 (GRCm39)	E356G	probably damaging	Het
Rps6ka5	T	C	12: 100,540,697 (GRCm39)	H488R	possibly damaging	Het
Scn11a	A	G	9: 119,632,396 (GRCm39)		probably null	Het
Sema4f	A	T	6: 82,912,948 (GRCm39)		probably benign	Het
Serpina1f	A	G	12: 103,660,094 (GRCm39)	S63P	probably damaging	Het
Slc9a3	T	C	13: 74,307,365 (GRCm39)	W386R	probably damaging	Het
Slc9b1	A	C	3: 135,100,651 (GRCm39)	L465F	probably benign	Het
Smc5	A	G	19: 23,241,017 (GRCm39)	V165A	possibly damaging	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tinagl1	G	T	4: 130,067,816 (GRCm39)	D59E	probably damaging	Het
Tns3	A	G	11: 8,443,302 (GRCm39)	Y354H	probably damaging	Het
Trappc9	C	T	15: 72,461,956 (GRCm39)	G1103D	probably damaging	Het
Unc79	A	T	12: 102,957,687 (GRCm39)	D34V	probably damaging	Het
Unc80	T	C	1: 66,560,645 (GRCm39)	L791P	probably damaging	Het
Unc93a2	A	G	17: 7,641,926 (GRCm39)	L174P	probably damaging	Het
Xpo7	G	T	14: 70,903,537 (GRCm39)		probably benign	Het
Zbtb1	T	A	12: 76,432,113 (GRCm39)	I33N	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
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
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'- TTCAGTAGTAGGTCCCACGAAGGC -3'
(R):5'- CCCTTTACGGTCCAGCAGTAACTC -3'

Sequencing Primer
(F):5'- GGTGCCCTAGAATGTCTCCTG -3'
(R):5'- GTCCAGCAGTAACTCCTGAG -3'

Posted On

2013-11-08