Mutagenetix > Incidental Mutation

Incidental Mutation 'R5294:Pak2'

405329

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

042877-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5294 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31835108-31898160 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31840648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 478 (N478Y)

Ref Sequence

ENSEMBL: ENSMUSP00000023467 (fasta)

Gene Model

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

AlphaFold

Q8CIN4

Predicted Effect

probably damaging
Transcript: ENSMUST00000023467
AA Change: N478Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023467
Gene: ENSMUSG00000022781
AA Change: N478Y

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

0.1110

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

97% (70/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579C12Rik	T	C	9: 89,034,056 (GRCm39)		noncoding transcript	Het
Acaca	A	G	11: 84,282,345 (GRCm39)	E2154G	probably benign	Het
Acacb	T	C	5: 114,380,013 (GRCm39)	F2056L	probably damaging	Het
Aff1	A	G	5: 103,959,023 (GRCm39)		probably benign	Het
Amn1	T	A	6: 149,086,622 (GRCm39)		probably benign	Het
Arid1a	C	A	4: 133,418,366 (GRCm39)		probably benign	Het
Aste1	T	A	9: 105,279,904 (GRCm39)		probably null	Het
Asxl3	T	A	18: 22,649,496 (GRCm39)	V495D	possibly damaging	Het
Atp1a3	T	A	7: 24,687,473 (GRCm39)	H688L	probably damaging	Het
B3gnt8	T	C	7: 25,328,191 (GRCm39)	L207P	probably damaging	Het
Baz2b	T	C	2: 59,808,946 (GRCm39)	H101R	probably benign	Het
Bicc1	G	A	10: 70,783,730 (GRCm39)	T387M	possibly damaging	Het
Champ1	A	C	8: 13,928,981 (GRCm39)	K380Q	probably damaging	Het
Cnst	A	G	1: 179,438,005 (GRCm39)	E523G	probably benign	Het
Cops6	G	C	5: 138,159,378 (GRCm39)		probably benign	Het
Cp	G	C	3: 20,020,480 (GRCm39)	V158L	probably benign	Het
Cyfip1	T	A	7: 55,523,231 (GRCm39)	M52K	possibly damaging	Het
Dars1	A	T	1: 128,292,039 (GRCm39)	F480I	probably benign	Het
Diaph1	C	A	18: 38,030,603 (GRCm39)	E284*	probably null	Het
Diaph1	T	C	18: 38,030,633 (GRCm39)	M274V	unknown	Het
Dock8	G	A	19: 25,038,517 (GRCm39)	V68M	probably benign	Het
Elavl4	A	G	4: 110,068,627 (GRCm39)	F247L	possibly damaging	Het
Emc10	C	T	7: 44,145,863 (GRCm39)		probably benign	Het
Fbxw16	T	C	9: 109,265,712 (GRCm39)	D369G	probably benign	Het
Fgr	A	T	4: 132,724,811 (GRCm39)	D304V	probably benign	Het
Filip1l	G	A	16: 57,390,399 (GRCm39)	S91N	possibly damaging	Het
Haus8	A	G	8: 71,708,354 (GRCm39)	S103P	unknown	Het
Hscb	A	G	5: 110,982,658 (GRCm39)	L143P	probably damaging	Het
Hsd11b2	A	T	8: 106,249,929 (GRCm39)	M347L	probably benign	Het
Jrk	C	A	15: 74,579,185 (GRCm39)	E33D	possibly damaging	Het
Kbtbd8	T	A	6: 95,098,813 (GRCm39)	Y123*	probably null	Het
Lrrc37	A	G	11: 103,507,057 (GRCm39)		probably benign	Het
Mis18bp1	A	C	12: 65,203,817 (GRCm39)	M59R	probably damaging	Het
Mrps27	T	C	13: 99,546,381 (GRCm39)	V260A	probably damaging	Het
Ncapg2	G	T	12: 116,391,414 (GRCm39)	V488L	possibly damaging	Het
Nepn	A	T	10: 52,276,896 (GRCm39)	N211Y	probably benign	Het
Ntrk3	A	T	7: 78,167,254 (GRCm39)		probably null	Het
Or10x4	A	T	1: 174,218,791 (GRCm39)	Y52F	probably benign	Het
Or11h23	A	G	14: 50,947,900 (GRCm39)	T38A	possibly damaging	Het
Or11h23	A	G	14: 50,948,236 (GRCm39)	I150V	probably benign	Het
Or52w1	C	T	7: 105,017,620 (GRCm39)	T20I	probably benign	Het
Otud4	A	T	8: 80,399,521 (GRCm39)	Q744L	possibly damaging	Het
P2ry14	A	T	3: 59,022,989 (GRCm39)	I166N	possibly damaging	Het
Papss2	A	G	19: 32,616,400 (GRCm39)	D202G	probably benign	Het
Pcdh7	C	A	5: 57,885,453 (GRCm39)		probably null	Het
Peg3	C	A	7: 6,720,848 (GRCm39)	S19I	possibly damaging	Het
Prim2	G	T	1: 33,707,974 (GRCm39)	T40K	probably benign	Het
Ranbp2	T	C	10: 58,314,490 (GRCm39)	F1737L	probably benign	Het
Rex2	A	C	4: 147,142,442 (GRCm39)	N310T	probably benign	Het
Rnf123	AT	ATT	9: 107,941,202 (GRCm39)		probably null	Het
Rnf39	C	T	17: 37,258,092 (GRCm39)	A86V	probably damaging	Het
Ror1	A	T	4: 100,283,135 (GRCm39)	N400I	probably benign	Het
Slc38a8	C	T	8: 120,221,028 (GRCm39)	G177D	probably damaging	Het
Slc43a3	T	C	2: 84,786,654 (GRCm39)	V445A	probably benign	Het
Sptbn2	A	G	19: 4,768,936 (GRCm39)	N23S	possibly damaging	Het
Taf5l	A	G	8: 124,734,957 (GRCm39)	F74L	probably benign	Het
Trappc11	G	C	8: 47,983,766 (GRCm39)	A42G	possibly damaging	Het
Trim30d	T	C	7: 104,121,695 (GRCm39)	K350R	probably damaging	Het
Trnt1	T	C	6: 106,750,375 (GRCm39)	F93S	probably damaging	Het
Ube2c	T	C	2: 164,619,110 (GRCm39)	V161A	probably benign	Het
Usp24	A	G	4: 106,219,554 (GRCm39)	E555G	possibly damaging	Het
Vmn2r55	T	G	7: 12,385,791 (GRCm39)	S730R	probably damaging	Het
Vmn2r89	T	A	14: 51,692,570 (GRCm39)	N124K	probably benign	Het
Vmn2r98	T	A	17: 19,290,016 (GRCm39)	C517*	probably null	Het
Vps13a	A	T	19: 16,619,031 (GRCm39)	I2845N	probably damaging	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Xpo5	T	C	17: 46,547,848 (GRCm39)	V896A	probably benign	Het
Zfp2	T	C	11: 50,792,068 (GRCm39)		probably benign	Het
Zgrf1	G	A	3: 127,394,629 (GRCm39)	M1328I	probably benign	Het
Zswim5	A	G	4: 116,836,774 (GRCm39)	D686G	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
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
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'- CAAGTCTGTATGCGCACATG -3'
(R):5'- CAAAACTGCCACTGGAGAGG -3'

Sequencing Primer
(F):5'- TCATACACACACAGAGTTAAATTCTG -3'
(R):5'- CCACTGGAGAGGACAGGCTTAG -3'

Posted On

2016-07-22