Mutagenetix > Incidental Mutation

Incidental Mutation 'R4180:Pak2'

319709

Institutional Source

Beutler Lab

Gene Symbol

Pak2

Ensembl Gene

ENSMUSG00000022781

Gene Name

p21 (RAC1) activated kinase 2

Synonyms

D16Ertd269e, PAK-2, 5330420P17Rik, A130002K10Rik

MMRRC Submission

041016-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4180 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31835108-31898160 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 31871005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Alanine at position 59 (G59A)

Ref Sequence

ENSEMBL: ENSMUSP00000023467 (fasta)

Gene Model

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

AlphaFold

Q8CIN4

Predicted Effect

probably benign
Transcript: ENSMUST00000023467
AA Change: G59A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000023467
Gene: ENSMUSG00000022781
AA Change: G59A

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

Meta Mutation Damage Score

0.0712

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (52/54)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	C	2: 25,331,590 (GRCm39)	S1326P	possibly damaging	Het
Adam22	T	G	5: 8,199,218 (GRCm39)	D246A	probably damaging	Het
Bmf	T	C	2: 118,363,018 (GRCm39)		probably benign	Het
Cd300lf	T	C	11: 115,015,089 (GRCm39)	Y160C	possibly damaging	Het
Chuk	G	A	19: 44,090,279 (GRCm39)	A71V	probably benign	Het
Col19a1	C	T	1: 24,309,473 (GRCm39)	G1060E	probably damaging	Het
Dock7	A	G	4: 98,904,973 (GRCm39)	V634A	probably benign	Het
Dpm3	A	G	3: 89,174,039 (GRCm39)		probably benign	Het
Dqx1	A	G	6: 83,036,460 (GRCm39)	T155A	probably benign	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
Fam184b	T	C	5: 45,697,106 (GRCm39)	E686G	probably benign	Het
Fhad1	T	A	4: 141,712,854 (GRCm39)	D195V	possibly damaging	Het
Glis2	T	C	16: 4,429,240 (GRCm39)	S148P	probably benign	Het
Gm8587	C	T	12: 88,056,516 (GRCm39)		noncoding transcript	Het
Gon7	A	G	12: 102,720,363 (GRCm39)	S90P	probably benign	Het
Haus6	A	T	4: 86,501,811 (GRCm39)	W687R	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Idh3g	A	T	X: 72,825,610 (GRCm39)		probably null	Het
Ints9	T	C	14: 65,230,430 (GRCm39)	L119P	probably damaging	Het
Itga9	T	C	9: 118,436,146 (GRCm39)	Y51H	probably damaging	Het
Klf17	T	A	4: 117,616,383 (GRCm39)	H316L	probably benign	Het
Klf4	C	T	4: 55,530,884 (GRCm39)	G26R	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lhcgr	A	G	17: 89,049,711 (GRCm39)	V605A	probably damaging	Het
Mafa	T	C	15: 75,619,413 (GRCm39)	Y120C	possibly damaging	Het
Map3k20	A	G	2: 72,271,915 (GRCm39)	Y681C	probably damaging	Het
Nub1	T	C	5: 24,897,875 (GRCm39)	I87T	probably damaging	Het
Or1ak2	T	A	2: 36,827,242 (GRCm39)	V37D	probably damaging	Het
Pdzrn4	T	A	15: 92,299,898 (GRCm39)	V256D	possibly damaging	Het
Pkd2l1	T	C	19: 44,180,620 (GRCm39)	N32D	probably benign	Het
Plec	T	C	15: 76,064,415 (GRCm39)	K1953R	possibly damaging	Het
Plekhg4	T	A	8: 106,108,030 (GRCm39)	V1029E	possibly damaging	Het
Prkcd	A	G	14: 30,332,261 (GRCm39)		probably benign	Het
Rgcc	T	C	14: 79,538,155 (GRCm39)	S79G	probably benign	Het
Sspo	T	C	6: 48,475,329 (GRCm39)		probably null	Het
Stxbp5l	A	T	16: 37,068,242 (GRCm39)	C315S	probably benign	Het
Tc2n	A	G	12: 101,631,954 (GRCm39)	L301P	probably damaging	Het
Tcerg1l	T	C	7: 137,878,405 (GRCm39)		probably null	Het
Tex12	T	C	9: 50,470,587 (GRCm39)		probably null	Het
Tgm5	T	C	2: 120,907,442 (GRCm39)	I94V	probably benign	Het
Tonsl	A	G	15: 76,508,675 (GRCm39)	L26P	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Trbv4	A	C	6: 41,036,646 (GRCm39)	D57A	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tuba4a	T	C	1: 75,192,426 (GRCm39)	D396G	probably benign	Het
Txnrd2	C	G	16: 18,245,175 (GRCm39)		probably null	Het
Zfp445	T	C	9: 122,681,589 (GRCm39)	N784S	probably benign	Het
Zfp459	G	T	13: 67,556,562 (GRCm39)	L174I	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGAGCCTATTATCAGCATCAAGTG -3'
(R):5'- CATGTCTGATAACGGAGAGCTAG -3'

Sequencing Primer
(F):5'- CCAGCATGTATGTATGTGCACCAG -3'
(R):5'- TGTCTGATAACGGAGAGCTAGAAGAC -3'

Posted On

2015-06-10