Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02828:Pak2'

361300

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pak2

Ensembl Gene

ENSMUSG00000022781

Gene Name

p21 (RAC1) activated kinase 2

Synonyms

D16Ertd269e, PAK-2, 5330420P17Rik, A130002K10Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02828

Quality Score

Status

Chromosome

Chromosomal Location

31835108-31898160 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31840674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 469 (L469H)

Ref Sequence

ENSEMBL: ENSMUSP00000023467 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023467]

AlphaFold

Q8CIN4

Predicted Effect

probably damaging
Transcript: ENSMUST00000023467
AA Change: L469H

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

SMART Domains

Protein: ENSMUSP00000023467
Gene: ENSMUSG00000022781
AA Change: L469H

Domain	Start	End	E-Value	Type
low complexity region	58	70	N/A	INTRINSIC
PBD	74	109	4.83e-16	SMART
low complexity region	170	177	N/A	INTRINSIC
low complexity region	212	226	N/A	INTRINSIC
S_TKc	249	500	9.34e-97	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The p21 activated kinases (PAK) are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. The PAK proteins are a family of serine/threonine kinases that serve as targets for the small GTP binding proteins, CDC42 and RAC1, and have been implicated in a wide range of biological activities. The protein encoded by this gene is activated by proteolytic cleavage during caspase-mediated apoptosis, and may play a role in regulating the apoptotic events in the dying cell. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality between E8 and the postnatal period with prominent head folds, impaired somite development, and growth retardation. Mice homozygous for a knock-in allele exhibit increased cell proliferation and decreased apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	A	11: 109,871,720 (GRCm39)	T86I	probably damaging	Het
Adam28	C	T	14: 68,884,319 (GRCm39)	S93N	possibly damaging	Het
Adamts6	T	C	13: 104,433,978 (GRCm39)	Y136H	probably damaging	Het
Ahdc1	A	T	4: 132,790,232 (GRCm39)	K491I	possibly damaging	Het
Alb	C	A	5: 90,615,247 (GRCm39)	A253E	probably benign	Het
Asb18	A	G	1: 89,923,932 (GRCm39)		probably null	Het
Asxl3	T	A	18: 22,657,718 (GRCm39)	N1909K	possibly damaging	Het
Atosa	G	T	9: 74,913,714 (GRCm39)	A123S	probably damaging	Het
Atp12a	T	A	14: 56,613,599 (GRCm39)	V457D	possibly damaging	Het
Atxn7	G	T	14: 14,090,056 (GRCm38)	G334W	probably damaging	Het
Catsperb	T	A	12: 101,447,041 (GRCm39)	I223K	probably benign	Het
Clec2h	T	A	6: 128,652,885 (GRCm39)	H217Q	probably benign	Het
Col6a3	T	C	1: 90,724,281 (GRCm39)	E1416G	probably damaging	Het
Dcaf1	T	A	9: 106,721,501 (GRCm39)		probably benign	Het
Ddr2	C	T	1: 169,816,082 (GRCm39)	A542T	probably benign	Het
Ebf3	T	C	7: 136,909,247 (GRCm39)	N174S	probably damaging	Het
Ecpas	A	G	4: 58,875,512 (GRCm39)	S151P	possibly damaging	Het
Ephb2	A	G	4: 136,498,461 (GRCm39)	I206T	probably benign	Het
Fbxo39	T	A	11: 72,208,041 (GRCm39)	I131N	possibly damaging	Het
Fdxacb1	G	A	9: 50,682,864 (GRCm39)	V276I	possibly damaging	Het
Gpr146	A	T	5: 139,378,576 (GRCm39)	Y126F	probably damaging	Het
Hivep3	A	T	4: 119,954,929 (GRCm39)	K1082*	probably null	Het
Ifnar1	T	A	16: 91,302,304 (GRCm39)		probably null	Het
Kap	A	G	6: 133,829,057 (GRCm39)	V25A	probably benign	Het
Klhl2	C	A	8: 65,232,791 (GRCm39)	R162L	probably damaging	Het
Kmt2a	A	G	9: 44,733,244 (GRCm39)		probably benign	Het
Lrp4	A	G	2: 91,305,639 (GRCm39)	N303S	probably benign	Het
Mtpap	A	T	18: 4,386,207 (GRCm39)	N276Y	probably damaging	Het
Nlrp5	G	A	7: 23,120,885 (GRCm39)	G684S	possibly damaging	Het
Or10g3b	T	C	14: 52,586,799 (GRCm39)	R235G	probably benign	Het
Or14a256	A	T	7: 86,265,277 (GRCm39)	V192E	possibly damaging	Het
Pcdhb15	T	A	18: 37,606,903 (GRCm39)	L45Q	probably damaging	Het
Pi4ka	A	T	16: 17,098,575 (GRCm39)		probably benign	Het
Picalm	A	G	7: 89,826,709 (GRCm39)	T386A	probably benign	Het
Pkd1l2	T	C	8: 117,756,298 (GRCm39)	T1645A	probably benign	Het
Plekhm2	A	T	4: 141,356,941 (GRCm39)	V754E	probably damaging	Het
Pramel25	A	T	4: 143,521,695 (GRCm39)	D437V	possibly damaging	Het
Rbl1	T	A	2: 157,041,384 (GRCm39)	E81V	probably damaging	Het
Rbp4	C	A	19: 38,106,717 (GRCm39)		probably null	Het
Rdh12	T	C	12: 79,265,459 (GRCm39)	V211A	probably damaging	Het
Ret	G	A	6: 118,153,168 (GRCm39)	A500V	probably benign	Het
Rin1	T	C	19: 5,103,118 (GRCm39)	F469S	possibly damaging	Het
Rmc1	C	A	18: 12,322,278 (GRCm39)	A577D	possibly damaging	Het
Rsc1a1	G	T	4: 141,411,479 (GRCm39)	P478T	probably damaging	Het
Setd2	A	T	9: 110,390,282 (GRCm39)	Y1579F	probably benign	Het
Sh3bp5	A	T	14: 31,156,106 (GRCm39)		probably benign	Het
Slc22a13	G	T	9: 119,024,773 (GRCm39)	L235I	probably benign	Het
Slc6a11	A	T	6: 114,111,948 (GRCm39)	T172S	possibly damaging	Het
Slitrk1	G	T	14: 109,149,048 (GRCm39)	S554R	possibly damaging	Het
Tg	G	A	15: 66,554,243 (GRCm39)	G553S	probably damaging	Het
Tmem26	G	A	10: 68,611,215 (GRCm39)		probably null	Het
Trpm2	A	T	10: 77,754,820 (GRCm39)	L1222Q	probably benign	Het
Vdac2	T	C	14: 21,893,957 (GRCm39)	V249A	probably benign	Het
Vmn1r170	T	C	7: 23,305,943 (GRCm39)	V115A	probably damaging	Het
Vmn2r105	A	G	17: 20,429,345 (GRCm39)	V577A	possibly damaging	Het
Xpo1	A	G	11: 23,232,593 (GRCm39)	E371G	probably damaging	Het
Zfp106	A	C	2: 120,362,178 (GRCm39)	H980Q	possibly damaging	Het

Other mutations in Pak2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01380:Pak2	APN	16	31,860,362 (GRCm39)	missense	probably benign	0.04
IGL01807:Pak2	APN	16	31,856,097 (GRCm39)	missense	probably damaging	0.99
IGL02296:Pak2	APN	16	31,862,820 (GRCm39)	critical splice acceptor site	probably null
K7371:Pak2	UTSW	16	31,852,602 (GRCm39)	splice site	probably benign
PIT4142001:Pak2	UTSW	16	31,841,930 (GRCm39)	missense	probably damaging	1.00
R0077:Pak2	UTSW	16	31,852,661 (GRCm39)	missense	possibly damaging	0.93
R1569:Pak2	UTSW	16	31,856,113 (GRCm39)	missense	probably damaging	1.00
R4179:Pak2	UTSW	16	31,871,005 (GRCm39)	missense	probably benign	0.02
R4180:Pak2	UTSW	16	31,871,005 (GRCm39)	missense	probably benign	0.02
R4223:Pak2	UTSW	16	31,871,028 (GRCm39)	missense	probably benign
R5114:Pak2	UTSW	16	31,861,936 (GRCm39)	intron	probably benign
R5294:Pak2	UTSW	16	31,840,648 (GRCm39)	missense	probably damaging	0.99
R5340:Pak2	UTSW	16	31,853,764 (GRCm39)	splice site	probably null
R5342:Pak2	UTSW	16	31,863,306 (GRCm39)	missense	probably damaging	1.00
R5586:Pak2	UTSW	16	31,860,337 (GRCm39)	missense	probably benign	0.00
R7590:Pak2	UTSW	16	31,871,014 (GRCm39)	missense	probably benign	0.27
R7995:Pak2	UTSW	16	31,846,590 (GRCm39)	missense	possibly damaging	0.92
R8324:Pak2	UTSW	16	31,871,029 (GRCm39)	missense	probably benign	0.00
R8485:Pak2	UTSW	16	31,871,083 (GRCm39)	missense	probably benign	0.16
R8948:Pak2	UTSW	16	31,852,729 (GRCm39)	splice site	probably benign
R9723:Pak2	UTSW	16	31,852,650 (GRCm39)	missense	probably damaging	0.99
Z1177:Pak2	UTSW	16	31,863,396 (GRCm39)	missense	probably benign	0.08

Posted On

2015-12-18