Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01380:Pak2'

78807

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 #

IGL01380

Quality Score

Status

Chromosome

Chromosomal Location

31835108-31898160 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31860362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 167 (V167E)

Ref Sequence

ENSEMBL: ENSMUSP00000023467 (fasta)

Gene Model

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

AlphaFold

Q8CIN4

Predicted Effect

probably benign
Transcript: ENSMUST00000023467
AA Change: V167E

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000023467
Gene: ENSMUSG00000022781
AA Change: V167E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125019

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	A	G	3: 59,840,053 (GRCm39)	T42A	probably benign	Het
Abcc10	C	A	17: 46,634,948 (GRCm39)	V352L	possibly damaging	Het
Ankrd44	A	T	1: 54,766,724 (GRCm39)	M488K	probably benign	Het
Ano8	A	G	8: 71,933,453 (GRCm39)		probably benign	Het
Atp2a1	T	A	7: 126,047,942 (GRCm39)	M623L	possibly damaging	Het
Atxn10	G	T	15: 85,260,896 (GRCm39)	E214*	probably null	Het
Btla	A	C	16: 45,070,716 (GRCm39)	D225A	probably benign	Het
C030048H21Rik	G	A	2: 26,146,659 (GRCm39)	Q1218*	probably null	Het
Cacna1a	A	G	8: 85,285,746 (GRCm39)	Y750C	probably damaging	Het
Ccdc15	A	T	9: 37,187,853 (GRCm39)		probably benign	Het
Ccdc18	T	A	5: 108,328,753 (GRCm39)	I724N	probably damaging	Het
Cluh	T	A	11: 74,556,772 (GRCm39)	F937L	probably benign	Het
Clybl	G	T	14: 122,616,761 (GRCm39)	A259S	probably benign	Het
Cyp4f39	T	G	17: 32,700,832 (GRCm39)	I167S	probably damaging	Het
Dchs1	T	A	7: 105,411,418 (GRCm39)	D1566V	probably damaging	Het
Dnah3	C	T	7: 119,525,787 (GRCm39)	A3867T	probably damaging	Het
Dtwd1	T	A	2: 126,001,847 (GRCm39)	L189Q	probably benign	Het
Dusp10	T	C	1: 183,801,211 (GRCm39)	I326T	possibly damaging	Het
Eaf1	T	A	14: 31,219,767 (GRCm39)		probably benign	Het
Eif3c	C	T	7: 126,163,585 (GRCm39)		probably benign	Het
Fam169a	C	T	13: 97,228,459 (GRCm39)	T44M	probably damaging	Het
Fam184a	T	C	10: 53,570,782 (GRCm39)		probably benign	Het
Fam25a	C	T	14: 34,075,655 (GRCm39)	A46T	probably null	Het
Gckr	A	G	5: 31,456,977 (GRCm39)		probably benign	Het
Gfra2	G	T	14: 71,204,586 (GRCm39)		probably benign	Het
Gm8237	A	T	14: 5,863,703 (GRCm38)		probably null	Het
H2-Eb2	G	T	17: 34,554,783 (GRCm39)	L228F	probably benign	Het
Igf2r	T	C	17: 12,914,261 (GRCm39)	N1736S	probably benign	Het
Izumo1	T	G	7: 45,276,519 (GRCm39)	S361A	probably benign	Het
Klri1	T	C	6: 129,675,761 (GRCm39)	I170V	probably benign	Het
L3mbtl2	C	T	15: 81,555,326 (GRCm39)	A193V	possibly damaging	Het
Lats1	T	A	10: 7,567,544 (GRCm39)	M105K	possibly damaging	Het
Lrpprc	T	C	17: 85,030,158 (GRCm39)	D1080G	probably benign	Het
Lrrc74a	A	T	12: 86,808,496 (GRCm39)	M425L	possibly damaging	Het
Mfsd13a	G	T	19: 46,356,347 (GRCm39)	D151Y	probably damaging	Het
Mst1	G	A	9: 107,961,787 (GRCm39)	E640K	probably damaging	Het
Napsa	T	C	7: 44,236,098 (GRCm39)	V379A	probably damaging	Het
Or1e16	A	T	11: 73,286,017 (GRCm39)	M277K	probably damaging	Het
Or55b4	C	T	7: 102,133,592 (GRCm39)	C245Y	probably damaging	Het
Or7c19	C	A	8: 85,957,775 (GRCm39)	S217Y	probably damaging	Het
Or7c19	A	T	8: 85,957,958 (GRCm39)	Y278F	possibly damaging	Het
Otop3	T	C	11: 115,237,237 (GRCm39)	V567A	probably damaging	Het
Oxsr1	A	T	9: 119,089,167 (GRCm39)		probably benign	Het
Pcdhb16	A	G	18: 37,612,498 (GRCm39)	H486R	probably benign	Het
Plekha5	C	T	6: 140,516,042 (GRCm39)		probably benign	Het
Rbm6	T	C	9: 107,665,548 (GRCm39)	D616G	probably damaging	Het
Sf3b1	T	C	1: 55,027,108 (GRCm39)	Y1249C	probably damaging	Het
Sipa1l3	T	C	7: 29,030,797 (GRCm39)	H534R	possibly damaging	Het
Slco1c1	T	C	6: 141,485,777 (GRCm39)	Y136H	probably damaging	Het
Smarca4	A	G	9: 21,590,369 (GRCm39)	M1333V	probably benign	Het
Smc4	A	G	3: 68,933,161 (GRCm39)	D54G	probably damaging	Het
Spag5	T	A	11: 78,195,443 (GRCm39)	V250E	possibly damaging	Het
Stxbp4	A	G	11: 90,512,475 (GRCm39)		probably benign	Het
Suv39h2	T	A	2: 3,465,296 (GRCm39)		probably benign	Het
Taar8b	T	A	10: 23,968,005 (GRCm39)	H63L	probably damaging	Het
Tex2	G	A	11: 106,435,141 (GRCm39)	Q264*	probably null	Het
Thnsl2	A	C	6: 71,115,740 (GRCm39)	S156A	probably benign	Het
Tmtc4	G	T	14: 123,163,366 (GRCm39)		probably benign	Het
Usp25	T	C	16: 76,890,566 (GRCm39)	L758P	probably benign	Het
Zfyve1	G	A	12: 83,599,281 (GRCm39)	R144C	probably damaging	Het
Zpld1	A	G	16: 55,072,133 (GRCm39)	V42A	probably damaging	Het

Other mutations in Pak2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02828:Pak2	APN	16	31,840,674 (GRCm39)	missense	probably damaging	1.00
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

2013-11-05