Mutagenetix > Incidental Mutation

Incidental Mutation 'R0583:Pak3'

60445

Institutional Source

Beutler Lab

Gene Symbol

Pak3

Ensembl Gene

ENSMUSG00000031284

Gene Name

p21 (RAC1) activated kinase 3

Synonyms

PAK-3

MMRRC Submission

038773-MU

Accession Numbers

Essential gene?

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

Stock #

R0583 (G1)

Quality Score

141

Status

Not validated

Chromosome

Chromosomal Location

142301587-142580792 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC to TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC at 142526889 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] [ENSMUST00000172330]

AlphaFold

Q61036

Predicted Effect

probably benign
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 benign
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 benign
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 benign
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 benign
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 benign
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: 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

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.1%
20x: 93.2%

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	G	9: 57,164,926 (GRCm39)	S483P	probably benign	Het
5730480H06Rik	A	G	5: 48,537,470 (GRCm39)	H169R	probably damaging	Het
Actn1	T	A	12: 80,245,803 (GRCm39)	I127F	probably damaging	Het
Cadm3	T	G	1: 173,168,738 (GRCm39)	T277P	probably benign	Het
Cast	T	C	13: 74,861,797 (GRCm39)	T629A	probably damaging	Het
Cblc	C	A	7: 19,526,486 (GRCm39)	C201F	probably benign	Het
Ccdc154	T	A	17: 25,387,398 (GRCm39)	D375E	possibly damaging	Het
Cdk6	A	G	5: 3,523,183 (GRCm39)	D201G	probably damaging	Het
Cep95	T	C	11: 106,705,449 (GRCm39)	V478A	probably benign	Het
Ciita	T	C	16: 10,341,668 (GRCm39)		probably null	Het
Clec4e	A	G	6: 123,260,653 (GRCm39)	F135S	probably damaging	Het
Cntn6	A	G	6: 104,753,275 (GRCm39)	D337G	possibly damaging	Het
Crlf3	A	T	11: 79,950,107 (GRCm39)	H174Q	probably damaging	Het
Cyb5r1	T	A	1: 134,335,339 (GRCm39)	F93I	probably damaging	Het
Dop1b	T	C	16: 93,552,374 (GRCm39)	I271T	probably benign	Het
Duxf1	G	A	10: 58,059,210 (GRCm39)	L515F	probably damaging	Het
Fcho1	T	C	8: 72,168,369 (GRCm39)	Y218C	probably damaging	Het
Fhad1	C	T	4: 141,631,301 (GRCm39)	M1297I	probably benign	Het
Igdcc4	T	C	9: 65,029,095 (GRCm39)	V244A	possibly damaging	Het
Ikzf5	A	G	7: 130,993,514 (GRCm39)		probably null	Het
Ilvbl	T	A	10: 78,419,101 (GRCm39)	V450E	probably damaging	Het
Kcns3	T	G	12: 11,141,479 (GRCm39)	N407H	probably damaging	Het
Klhl11	T	C	11: 100,355,150 (GRCm39)	K224E	possibly damaging	Het
Klra17	T	A	6: 129,845,656 (GRCm39)	D186V	probably damaging	Het
Lrrc37a	T	C	11: 103,389,263 (GRCm39)	D2054G	probably benign	Het
Mef2a	G	T	7: 66,884,896 (GRCm39)	S406*	probably null	Het
Mrgbp	A	G	2: 180,226,239 (GRCm39)	N104S	probably benign	Het
Mroh2a	GT	GTT	1: 88,183,888 (GRCm39)		probably null	Het
Muc5ac	C	A	7: 141,361,345 (GRCm39)	T1552N	probably damaging	Het
Muc5b	T	A	7: 141,410,435 (GRCm39)	Y1269*	probably null	Het
Myef2	T	C	2: 124,939,901 (GRCm39)		probably null	Het
Myg1	C	T	15: 102,246,225 (GRCm39)	Q367*	probably null	Het
Nalcn	T	C	14: 123,531,755 (GRCm39)	N1365S	possibly damaging	Het
Nfu1	T	C	6: 86,986,934 (GRCm39)	C18R	probably benign	Het
Nkx2-6	A	T	14: 69,412,228 (GRCm39)	Q132L	probably damaging	Het
Or10a3b	C	T	7: 108,444,621 (GRCm39)	A199T	possibly damaging	Het
Or8k38	T	A	2: 86,488,704 (GRCm39)	I33F	probably benign	Het
Prh1	A	T	6: 132,548,796 (GRCm39)	Q101L	unknown	Het
Ribc2	A	T	15: 85,017,115 (GRCm39)		probably null	Het
Rnf19a	C	A	15: 36,253,151 (GRCm39)	R396L	probably damaging	Het
Sdad1	A	G	5: 92,452,923 (GRCm39)	I105T	probably damaging	Het
Sec24b	G	T	3: 129,834,960 (GRCm39)	Y79*	probably null	Het
Tatdn2	A	G	6: 113,679,486 (GRCm39)	E277G	possibly damaging	Het
Tex10	A	C	4: 48,451,952 (GRCm39)	F725V	probably damaging	Het
Themis3	T	C	17: 66,866,748 (GRCm39)	D164G	probably benign	Het
Ubxn7	T	C	16: 32,194,732 (GRCm39)	W220R	probably damaging	Het
Usp33	C	A	3: 152,073,891 (GRCm39)	R246S	probably damaging	Het
Vmn2r102	T	A	17: 19,897,043 (GRCm39)	V130E	probably benign	Het
Vmn2r112	C	T	17: 22,837,930 (GRCm39)	P797L	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Yme1l1	T	C	2: 23,076,262 (GRCm39)	V340A	probably damaging	Het
Zfta	A	G	19: 7,397,639 (GRCm39)	D62G	probably damaging	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
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
R4329:Pak3	UTSW	X	142,516,205 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GGCCAGACTTCTTCATTAGACCCATC -3'
(R):5'- TGTTAGTTACCAAGCAACTCACCAGC -3'

Sequencing Primer
(F):5'- ATCCTCCTAGCATGGAACTAGTG -3'
(R):5'- TACAGAGAACAGGAGTCATGAATTG -3'

Posted On

2013-07-11