Mutagenetix > Incidental Mutation

Incidental Mutation 'R4329:Pak3'

397275

Institutional Source

Beutler Lab

Gene Symbol

Pak3

Ensembl Gene

ENSMUSG00000031284

Gene Name

p21 (RAC1) activated kinase 3

Synonyms

PAK-3

MMRRC Submission

041663-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.313) question?

Stock #

R4329 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

142301587-142580792 bp(+) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to C at 142516205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126562 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033640] [ENSMUST00000112863] [ENSMUST00000112864] [ENSMUST00000112865] [ENSMUST00000112868] [ENSMUST00000134402] [ENSMUST00000155215] [ENSMUST00000172330]

AlphaFold

Q61036

Predicted Effect

probably null
Transcript: ENSMUST00000033640

SMART Domains

Protein: ENSMUSP00000033640
Gene: ENSMUSG00000031284

Domain	Start	End	E-Value	Type
PBD	70	120	6.48e-8	SMART
low complexity region	187	204	N/A	INTRINSIC
S_TKc	283	534	1.46e-98	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000112863

SMART Domains

Protein: ENSMUSP00000108484
Gene: ENSMUSG00000031284

Domain	Start	End	E-Value	Type
PBD	70	120	6.48e-8	SMART
low complexity region	187	204	N/A	INTRINSIC
S_TKc	283	534	1.46e-98	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000112864

SMART Domains

Protein: ENSMUSP00000108485
Gene: ENSMUSG00000031284

Domain	Start	End	E-Value	Type
PBD	70	105	1.11e-15	SMART
low complexity region	172	189	N/A	INTRINSIC
S_TKc	268	519	1.46e-98	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000112865

SMART Domains

Protein: ENSMUSP00000108486
Gene: ENSMUSG00000031284

Domain	Start	End	E-Value	Type
PBD	70	105	1.11e-15	SMART
low complexity region	172	189	N/A	INTRINSIC
S_TKc	268	519	1.46e-98	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000112868

SMART Domains

Protein: ENSMUSP00000108489
Gene: ENSMUSG00000031284

Domain	Start	End	E-Value	Type
PBD	70	105	1.11e-15	SMART
low complexity region	172	189	N/A	INTRINSIC
S_TKc	268	519	1.46e-98	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000134402

SMART Domains

Protein: ENSMUSP00000119090
Gene: ENSMUSG00000031284

Domain	Start	End	E-Value	Type
PBD	70	105	2.49e-9	SMART
Pfam:PBD	124	163	2e-9	PFAM
low complexity region	208	225	N/A	INTRINSIC
Pfam:Pkinase	304	366	4e-10	PFAM
Pfam:Pkinase_Tyr	304	366	1.8e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155215

SMART Domains

Protein: ENSMUSP00000118549
Gene: ENSMUSG00000031284

Domain	Start	End	E-Value	Type
PBD	70	120	6.48e-8	SMART
low complexity region	187	195	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000172330

SMART Domains

Protein: ENSMUSP00000126562
Gene: ENSMUSG00000031284

Domain	Start	End	E-Value	Type
PBD	70	105	1.11e-15	SMART
low complexity region	172	189	N/A	INTRINSIC
S_TKc	268	519	1.46e-98	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

96% (68/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a serine-threonine kinase and forms an activated complex with GTP-bound RAS-like (P21), CDC2 and RAC1. This protein may be necessary for dendritic development and for the rapid cytoskeletal reorganization in dendritic spines associated with synaptic plasticity. Defects in this gene are the cause of non-syndromic mental retardation X-linked type 30 (MRX30), also called X-linked mental retardation type 47 (MRX47). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for one knock-out allele display a selective impairment in hippocampal late-phase long-term potentiation, and deficits in learning and memory. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	C	A	5: 113,243,455 (GRCm39)		probably null	Het
Adamts15	T	C	9: 30,815,814 (GRCm39)	S681G	probably benign	Het
Ampd2	C	A	3: 107,985,103 (GRCm39)		probably benign	Het
Ang2	A	T	14: 51,433,325 (GRCm39)	I19N	possibly damaging	Het
Brd10	G	T	19: 29,720,961 (GRCm39)	T688K	probably benign	Het
Cacna1s	A	C	1: 136,046,771 (GRCm39)	D1819A	probably benign	Het
Cand2	C	A	6: 115,776,949 (GRCm39)	H1112Q	possibly damaging	Het
Catsperd	T	A	17: 56,961,517 (GRCm39)	I413K	possibly damaging	Het
Ccdc142	T	A	6: 83,083,997 (GRCm39)		probably benign	Het
Cd55	A	T	1: 130,380,220 (GRCm39)	C253S	probably damaging	Het
Celsr3	C	T	9: 108,723,248 (GRCm39)	R2847C	probably benign	Het
Cep290	C	T	10: 100,373,530 (GRCm39)	S1270L	probably damaging	Het
Chka	T	C	19: 3,925,803 (GRCm39)		probably benign	Het
Cntnap5b	T	A	1: 99,999,888 (GRCm39)	D215E	probably damaging	Het
Col13a1	T	C	10: 61,699,758 (GRCm39)	T476A	unknown	Het
Cspg4	T	C	9: 56,799,749 (GRCm39)	F1539L	probably damaging	Het
Cwf19l2	A	T	9: 3,458,878 (GRCm39)	I776F	probably damaging	Het
Dchs1	A	T	7: 105,402,966 (GRCm39)	I3192N	probably damaging	Het
Dnah7c	T	A	1: 46,688,441 (GRCm39)	D1870E	probably benign	Het
Drc1	A	T	5: 30,513,002 (GRCm39)	I359L	probably benign	Het
Esp1	A	G	17: 41,039,768 (GRCm39)	M18V	probably benign	Het
Exoc1	T	A	5: 76,715,822 (GRCm39)	F789L	probably damaging	Het
Fbxw22	T	A	9: 109,213,111 (GRCm39)	T279S	probably damaging	Het
Frem1	G	A	4: 82,904,774 (GRCm39)	A880V	probably benign	Het
Gm29514	A	G	1: 146,296,429 (GRCm39)		noncoding transcript	Het
Grm7	T	C	6: 110,891,325 (GRCm39)	L186P	probably damaging	Het
Ipo8	A	T	6: 148,701,662 (GRCm39)		probably benign	Het
Klk4	A	G	7: 43,533,830 (GRCm39)	D202G	probably damaging	Het
Marchf6	C	T	15: 31,498,887 (GRCm39)	E137K	probably benign	Het
Mpp3	T	C	11: 101,914,337 (GRCm39)		probably benign	Het
Mroh2b	T	A	15: 4,960,861 (GRCm39)	Y808N	probably damaging	Het
Myom1	C	T	17: 71,343,348 (GRCm39)	L182F	probably damaging	Het
Nova1	A	T	12: 46,767,615 (GRCm39)	I102N	unknown	Het
Or7g34	T	A	9: 19,478,318 (GRCm39)	M121L	possibly damaging	Het
Palm	G	A	10: 79,643,520 (GRCm39)	G83S	probably benign	Het
Patl2	C	T	2: 121,958,018 (GRCm39)	S80N	probably benign	Het
Pcdhb9	A	T	18: 37,534,875 (GRCm39)	S290C	probably benign	Het
Pcdhb9	G	T	18: 37,534,876 (GRCm39)	S290I	probably benign	Het
Pdgfrb	A	T	18: 61,204,792 (GRCm39)	I551F	possibly damaging	Het
Pkmyt1	T	A	17: 23,951,709 (GRCm39)	Y88N	probably damaging	Het
Pnkp	T	C	7: 44,508,018 (GRCm39)	S114P	probably benign	Het
Rdm1	T	A	11: 101,521,734 (GRCm39)	V92E	probably damaging	Het
Sema4d	T	C	13: 51,857,340 (GRCm39)	R631G	probably benign	Het
Sin3a	T	C	9: 57,002,642 (GRCm39)	L178P	probably damaging	Het
Skint9	A	C	4: 112,249,062 (GRCm39)	L122R	probably damaging	Het
Slc16a13	T	C	11: 70,108,723 (GRCm39)	N369S	probably benign	Het
Strada	A	G	11: 106,077,999 (GRCm39)		probably benign	Het
Tnxb	C	A	17: 34,912,838 (GRCm39)	S1784Y	probably damaging	Het
Trpc2	T	C	7: 101,736,727 (GRCm39)	V318A	probably damaging	Het
Ttc3	G	A	16: 94,267,820 (GRCm39)	R1589H	probably damaging	Het
Ttyh1	A	T	7: 4,133,580 (GRCm39)	D295V	probably damaging	Het
Unc5b	A	G	10: 60,618,969 (GRCm39)	Y58H	probably damaging	Het
Xylt1	G	A	7: 117,255,684 (GRCm39)	G752D	probably damaging	Het
Yipf7	A	T	5: 69,678,465 (GRCm39)	L55Q	probably damaging	Het
Zfp827	G	A	8: 79,916,463 (GRCm39)		probably benign	Het
Zfta	A	G	19: 7,398,591 (GRCm39)		probably benign	Het

Other mutations in Pak3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00507:Pak3	APN	X	142,572,329 (GRCm39)	missense	probably damaging	1.00
wolfpack	UTSW	X	142,516,205 (GRCm39)	splice site	probably null
R0464:Pak3	UTSW	X	142,526,889 (GRCm39)	critical splice acceptor site	probably benign
R0583:Pak3	UTSW	X	142,526,889 (GRCm39)	critical splice acceptor site	probably benign
R0586:Pak3	UTSW	X	142,526,889 (GRCm39)	critical splice acceptor site	probably benign
R0587:Pak3	UTSW	X	142,526,889 (GRCm39)	critical splice acceptor site	probably benign
R0781:Pak3	UTSW	X	142,526,889 (GRCm39)	critical splice acceptor site	probably benign
R0908:Pak3	UTSW	X	142,526,889 (GRCm39)	critical splice acceptor site	probably benign
R1029:Pak3	UTSW	X	142,526,889 (GRCm39)	critical splice acceptor site	probably benign
R1917:Pak3	UTSW	X	142,574,298 (GRCm39)	missense	possibly damaging	0.94
R2918:Pak3	UTSW	X	142,547,972 (GRCm39)	missense	probably damaging	1.00
R3801:Pak3	UTSW	X	142,492,727 (GRCm39)	missense	probably damaging	1.00
R3802:Pak3	UTSW	X	142,492,727 (GRCm39)	missense	probably damaging	1.00
R3803:Pak3	UTSW	X	142,492,727 (GRCm39)	missense	probably damaging	1.00
R3804:Pak3	UTSW	X	142,492,727 (GRCm39)	missense	probably damaging	1.00
R4326:Pak3	UTSW	X	142,516,205 (GRCm39)	splice site	probably null
R4328:Pak3	UTSW	X	142,516,205 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GCTCTGGTCTTGGCTACTAAATGTA -3'
(R):5'- TGCAACTTGTCTCCATCCCA -3'

Sequencing Primer
(F):5'- GATCATTGTGCTCATTTGTGAAAAG -3'
(R):5'- GGATACCTGATATGTGACACCTG -3'

Posted On

2016-07-05