Mutagenetix > Incidental Mutation

Incidental Mutation 'R5320:Pak4'

406046

Institutional Source

Beutler Lab

Gene Symbol

Pak4

Ensembl Gene

ENSMUSG00000030602

Gene Name

p21 (RAC1) activated kinase 4

Synonyms

5730488L07Rik

MMRRC Submission

042903-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5320 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28258244-28297609 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28267631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 11 (I11T)

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: I11T

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032823
Gene: ENSMUSG00000030602
AA Change: I11T

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: I11T

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103918
Gene: ENSMUSG00000030602
AA Change: I11T

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

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.4%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,526,541 (GRCm39)	I581N	probably damaging	Het
Abcb10	A	G	8: 124,697,763 (GRCm39)	F187S	probably benign	Het
Actl11	T	A	9: 107,808,203 (GRCm39)	V842E	possibly damaging	Het
Akap12	A	G	10: 4,307,291 (GRCm39)	D1367G	probably benign	Het
Aoc1l1	T	A	6: 48,952,474 (GRCm39)	L133Q	probably damaging	Het
Aoc1l3	T	A	6: 48,964,509 (GRCm39)	F172L	probably benign	Het
AU040320	A	T	4: 126,717,509 (GRCm39)	H362L	possibly damaging	Het
Bmpr1a	C	T	14: 34,146,999 (GRCm39)	V258M	probably damaging	Het
Bptf	T	A	11: 106,972,193 (GRCm39)	K892*	probably null	Het
Cap2	A	G	13: 46,801,840 (GRCm39)	*422W	probably null	Het
Cars2	G	T	8: 11,567,854 (GRCm39)	H414N	probably benign	Het
Ccnt1	A	C	15: 98,442,124 (GRCm39)	S381R	probably benign	Het
Cdyl2	A	T	8: 117,321,794 (GRCm39)	C244*	probably null	Het
Cers2	A	G	3: 95,228,305 (GRCm39)	E115G	probably null	Het
Cpt1b	G	A	15: 89,303,477 (GRCm39)	P553S	probably benign	Het
Cuedc1	A	G	11: 88,068,136 (GRCm39)	E128G	probably damaging	Het
Dll4	T	A	2: 119,156,968 (GRCm39)	V80D	probably damaging	Het
Dop1b	T	C	16: 93,536,874 (GRCm39)	L113P	probably damaging	Het
Fam98a	A	G	17: 75,845,810 (GRCm39)	I312T	probably damaging	Het
Gnrhr	T	G	5: 86,345,473 (GRCm39)	K71T	possibly damaging	Het
Gtf3c3	A	T	1: 54,445,032 (GRCm39)	L674Q	probably damaging	Het
Hipk2	A	T	6: 38,795,212 (GRCm39)	H352Q	probably damaging	Het
Hivep1	T	C	13: 42,313,115 (GRCm39)	V1785A	probably damaging	Het
Hspa4	A	T	11: 53,153,810 (GRCm39)	I687N	probably damaging	Het
Krt18	A	T	15: 101,936,955 (GRCm39)	D81V	probably damaging	Het
Lama3	A	C	18: 12,685,912 (GRCm39)	D1142A	probably damaging	Het
Lnpep	A	G	17: 17,766,727 (GRCm39)	I713T	possibly damaging	Het
Man2b2	T	A	5: 36,967,677 (GRCm39)	Y897F	probably damaging	Het
Muc5b	A	T	7: 141,412,738 (GRCm39)	I1895F	unknown	Het
Myh8	G	A	11: 67,177,089 (GRCm39)	V414I	probably damaging	Het
Myo1d	A	T	11: 80,575,149 (GRCm39)		probably null	Het
Nav2	A	T	7: 49,141,121 (GRCm39)	M889L	probably benign	Het
Oc90	C	T	15: 65,754,457 (GRCm39)	G236D	probably benign	Het
Or13a27	A	G	7: 139,925,548 (GRCm39)	V118A	probably benign	Het
Papss2	T	C	19: 32,615,787 (GRCm39)	I173T	probably damaging	Het
Pcsk9	A	T	4: 106,320,988 (GRCm39)	D40E	probably benign	Het
Pdzrn3	G	C	6: 101,128,064 (GRCm39)	H867Q	probably damaging	Het
Plcb1	A	T	2: 135,094,696 (GRCm39)	I174F	possibly damaging	Het
Pom121l2	G	A	13: 22,166,015 (GRCm39)	W95*	probably null	Het
Prcp	A	T	7: 92,577,843 (GRCm39)	T336S	probably benign	Het
Prdm11	A	C	2: 92,843,226 (GRCm39)	S78A	probably benign	Het
Ralgds	T	C	2: 28,435,224 (GRCm39)	I405T	probably damaging	Het
Rasgrf1	A	G	9: 89,902,478 (GRCm39)	R1208G	probably damaging	Het
Rasgrp2	T	A	19: 6,458,864 (GRCm39)		probably null	Het
Rb1	A	T	14: 73,450,566 (GRCm39)	Y599*	probably null	Het
Rnf141	A	T	7: 110,433,010 (GRCm39)	F62L	probably damaging	Het
Rsl24d1	T	A	9: 73,023,698 (GRCm39)	F292I	possibly damaging	Het
Scn10a	C	T	9: 119,477,175 (GRCm39)	V736I	probably damaging	Het
Sim2	A	T	16: 93,905,598 (GRCm39)	T141S	probably benign	Het
Slc6a15	G	T	10: 103,244,067 (GRCm39)	V436L	probably damaging	Het
Smarca2	T	C	19: 26,668,772 (GRCm39)	S924P	probably damaging	Het
Tacc1	T	C	8: 25,671,881 (GRCm39)	E449G	probably benign	Het
Tlr3	A	T	8: 45,852,137 (GRCm39)	N253K	possibly damaging	Het
Tmem198	G	A	1: 75,456,500 (GRCm39)	A82T	probably benign	Het
Tom1l2	A	T	11: 60,133,648 (GRCm39)	L54*	probably null	Het
Trav12-2	A	G	14: 53,854,356 (GRCm39)	Y110C	probably benign	Het
Trdn	T	A	10: 33,209,247 (GRCm39)		probably null	Het
Trim36	G	T	18: 46,300,565 (GRCm39)	P690Q	probably damaging	Het
Trpc4	A	T	3: 54,206,599 (GRCm39)	M600L	probably damaging	Het
Trpm2	T	A	10: 77,759,355 (GRCm39)	Q1143L	probably benign	Het
Usp34	T	A	11: 23,283,739 (GRCm39)	D144E	probably benign	Het
Vps18	A	T	2: 119,127,858 (GRCm39)	R894*	probably null	Het
Vwa1	A	G	4: 155,855,369 (GRCm39)	V248A	probably benign	Het
Wdr75	T	C	1: 45,838,211 (GRCm39)	V40A	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
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
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'- CATTCTGGCAGTATGGGCTG -3'
(R):5'- AAATAGCTGCTCAGAGGGCC -3'

Sequencing Primer
(F):5'- CAGTATGGGCTGTGGGCTAAAG -3'
(R):5'- CCCCTGCTGGTATATGAGATATCTG -3'

Posted On

2016-07-22