Mutagenetix > Incidental Mutation

Incidental Mutation 'R3801:Pak3'

273027

Institutional Source

Beutler Lab

Gene Symbol

Pak3

Ensembl Gene

ENSMUSG00000031284

Gene Name

p21 (RAC1) activated kinase 3

Synonyms

PAK-3

MMRRC Submission

040760-MU

Accession Numbers

Essential gene?

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

Stock #

R3801 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

142301587-142580792 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 142492727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 87 (V87I)

Ref Sequence

ENSEMBL: ENSMUSP00000118716 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033640] [ENSMUST00000112863] [ENSMUST00000112864] [ENSMUST00000112865] [ENSMUST00000112868] [ENSMUST00000134402] [ENSMUST00000155215] [ENSMUST00000172330] [ENSMUST00000156449]

AlphaFold

Q61036

Predicted Effect

probably benign
Transcript: ENSMUST00000033640
AA Change: V87I

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000033640
Gene: ENSMUSG00000031284
AA Change: V87I

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
AA Change: V87I

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108484
Gene: ENSMUSG00000031284
AA Change: V87I

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
AA Change: V87I

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108485
Gene: ENSMUSG00000031284
AA Change: V87I

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
AA Change: V87I

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108486
Gene: ENSMUSG00000031284
AA Change: V87I

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
AA Change: V87I

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108489
Gene: ENSMUSG00000031284
AA Change: V87I

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

possibly damaging
Transcript: ENSMUST00000134402
AA Change: V87I

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119090
Gene: ENSMUSG00000031284
AA Change: V87I

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
AA Change: V87I

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000118549
Gene: ENSMUSG00000031284
AA Change: V87I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000172330
AA Change: V87I

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000126562
Gene: ENSMUSG00000031284
AA Change: V87I

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 damaging
Transcript: ENSMUST00000156449
AA Change: V87I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118716
Gene: ENSMUSG00000031284
AA Change: V87I

Domain	Start	End	E-Value	Type
PBD	70	105	1.11e-15	SMART

Meta Mutation Damage Score

0.1486

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	C	T	8: 79,974,922 (GRCm39)	E54K	probably benign	Het
Als2	A	C	1: 59,206,358 (GRCm39)	M1634R	probably damaging	Het
Ankfy1	T	C	11: 72,640,246 (GRCm39)	S531P	probably benign	Het
Atp6v1e1	A	G	6: 120,778,020 (GRCm39)	Y172H	probably benign	Het
Brd1	C	T	15: 88,601,243 (GRCm39)	V464M	probably damaging	Het
Btaf1	A	T	19: 36,963,948 (GRCm39)	T840S	probably benign	Het
Btaf1	A	T	19: 36,966,373 (GRCm39)	H1047L	probably benign	Het
Cacnb2	A	G	2: 14,829,074 (GRCm39)	D3G	possibly damaging	Het
Capn13	G	A	17: 73,646,396 (GRCm39)	P339L	probably benign	Het
Cgrrf1	G	T	14: 47,069,820 (GRCm39)	G30C	probably damaging	Het
Crnkl1	T	C	2: 145,761,715 (GRCm39)	D614G	probably benign	Het
Cyp2c23	C	T	19: 43,995,478 (GRCm39)	V430I	probably benign	Het
Dazl	G	A	17: 50,588,309 (GRCm39)	R289W	probably benign	Het
Dsg1b	C	T	18: 20,523,260 (GRCm39)	P96S	probably damaging	Het
Dusp14	A	G	11: 83,939,535 (GRCm39)	S169P	possibly damaging	Het
Egfem1	A	G	3: 29,206,075 (GRCm39)	D91G	probably benign	Het
Eif1	A	G	11: 100,211,650 (GRCm39)	K95E	probably damaging	Het
Fap	C	T	2: 62,376,994 (GRCm39)	V191I	probably benign	Het
Flnc	T	C	6: 29,447,403 (GRCm39)	Y1069H	probably damaging	Het
Fndc7	T	C	3: 108,776,464 (GRCm39)	T526A	possibly damaging	Het
Fras1	A	T	5: 96,881,791 (GRCm39)	T2508S	probably benign	Het
Gast	T	C	11: 100,227,636 (GRCm39)	S73P	probably damaging	Het
Grap2	A	G	15: 80,507,947 (GRCm39)	T4A	possibly damaging	Het
Grm8	T	G	6: 28,125,635 (GRCm39)	N164H	possibly damaging	Het
Hyal5	A	T	6: 24,876,523 (GRCm39)	H132L	probably benign	Het
Iqcm	C	A	8: 76,396,021 (GRCm39)	T188K	possibly damaging	Het
Kank4	A	G	4: 98,668,370 (GRCm39)	S26P	probably damaging	Het
Lipo3	C	T	19: 33,762,257 (GRCm39)	C80Y	probably damaging	Het
Lrrk2	A	G	15: 91,621,314 (GRCm39)	R963G	probably benign	Het
Lrtm2	G	A	6: 119,294,444 (GRCm39)	T229I	probably damaging	Het
Mb21d2	A	T	16: 28,646,755 (GRCm39)	D406E	possibly damaging	Het
Meikin	T	A	11: 54,290,697 (GRCm39)		probably null	Het
Mybl1	A	T	1: 9,743,439 (GRCm39)	F538I	probably damaging	Het
Nectin2	T	C	7: 19,451,561 (GRCm39)	D491G	probably benign	Het
Nf1	A	G	11: 79,450,347 (GRCm39)	D511G	probably null	Het
Nid2	T	C	14: 19,860,065 (GRCm39)	C1328R	probably damaging	Het
Nlrp1a	T	A	11: 71,013,529 (GRCm39)	M574L	probably benign	Het
Nrap	C	T	19: 56,310,211 (GRCm39)	D1595N	probably damaging	Het
Nrg3	G	A	14: 38,098,391 (GRCm39)	P496S	probably damaging	Het
Or4k41	A	T	2: 111,279,910 (GRCm39)	I142F	probably benign	Het
Phf8	T	C	X: 150,355,572 (GRCm39)	S512P	possibly damaging	Het
Phkb	G	T	8: 86,648,858 (GRCm39)	E225*	probably null	Het
Plaa	T	C	4: 94,458,125 (GRCm39)	D615G	probably damaging	Het
Prdm12	A	G	2: 31,541,959 (GRCm39)	K223E	probably damaging	Het
Prkd1	C	A	12: 50,430,205 (GRCm39)	R634L	possibly damaging	Het
Rassf3	T	A	10: 121,250,271 (GRCm39)	I181F	possibly damaging	Het
Samd8	G	A	14: 21,825,133 (GRCm39)	V30M	probably damaging	Het
Sema4f	A	T	6: 82,895,608 (GRCm39)	H308Q	possibly damaging	Het
Skint4	G	T	4: 111,975,378 (GRCm39)	V113L	probably damaging	Het
Slc16a10	G	C	10: 39,932,620 (GRCm39)	H314D	possibly damaging	Het
Slpi	A	G	2: 164,198,158 (GRCm39)	L12P	probably damaging	Het
Smco1	A	G	16: 32,092,716 (GRCm39)	Y129C	probably benign	Het
Spag17	A	G	3: 99,961,169 (GRCm39)	K985R	possibly damaging	Het
Stc1	T	C	14: 69,275,924 (GRCm39)	I239T	probably benign	Het
Suclg2	A	T	6: 95,474,649 (GRCm39)	I372N	probably damaging	Het
Tmed4	C	A	11: 6,224,233 (GRCm39)	V80F	probably damaging	Het
Tnpo2	T	A	8: 85,781,800 (GRCm39)		probably null	Het
Top1	A	G	2: 160,544,688 (GRCm39)	H268R	probably damaging	Het
Triobp	A	T	15: 78,857,900 (GRCm39)	Q1167L	probably benign	Het
Txndc16	G	A	14: 45,388,809 (GRCm39)	P536L	possibly damaging	Het
Usp13	C	T	3: 32,935,657 (GRCm39)	A360V	possibly damaging	Het
Vhl	G	A	6: 113,606,423 (GRCm39)	V147I	probably benign	Het
Vldlr	A	T	19: 27,195,021 (GRCm39)	T3S	probably damaging	Het
Vps54	T	A	11: 21,218,832 (GRCm39)	D130E	probably benign	Het
Zfp808	T	A	13: 62,319,897 (GRCm39)	H375Q	probably damaging	Het
Zfp87	A	T	13: 67,669,334 (GRCm39)	N37K	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
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
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'- TCTCCATGTACTTGTCAGTAAGG -3'
(R):5'- GGCAGGGTCTCCTTAGCATAAC -3'

Sequencing Primer
(F):5'- TGTACATACCAGAAAACGATGAGTC -3'
(R):5'- AGCATAACTACATTTTCTGTGCC -3'

Posted On

2015-03-25