Mutagenetix > Incidental Mutation

Incidental Mutation 'R3804:Pak3'

274532

Institutional Source

Beutler Lab

Gene Symbol

Pak3

Ensembl Gene

ENSMUSG00000031284

Gene Name

p21 (RAC1) activated kinase 3

Synonyms

PAK-3

MMRRC Submission

040879-MU

Accession Numbers

Essential gene?

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

Stock #

R3804 (G1)

Quality Score

222

Status

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: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (67/67)

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
Adgra1	A	G	7: 139,425,510 (GRCm39)	T8A	probably benign	Het
Alms1	A	G	6: 85,596,629 (GRCm39)	Y954C	probably damaging	Het
AU021092	A	C	16: 5,034,626 (GRCm39)	F199V	possibly damaging	Het
Bahcc1	C	T	11: 120,174,184 (GRCm39)	P1648L	probably benign	Het
Cacna1s	T	A	1: 136,034,756 (GRCm39)	C1319S	possibly damaging	Het
Capn13	G	A	17: 73,646,396 (GRCm39)	P339L	probably benign	Het
Ccdc39	A	T	3: 33,874,044 (GRCm39)	M596K	probably damaging	Het
Cfap418	A	G	4: 10,898,014 (GRCm39)	T199A	probably benign	Het
Cntn5	A	G	9: 9,781,668 (GRCm39)		probably benign	Het
Cyth4	A	G	15: 78,494,002 (GRCm39)	K159E	probably damaging	Het
Dgkz	C	A	2: 91,769,975 (GRCm39)	R563L	probably benign	Het
Dnah8	A	G	17: 30,889,621 (GRCm39)	E718G	probably benign	Het
Dop1a	T	C	9: 86,403,048 (GRCm39)	L1416P	probably damaging	Het
Dstyk	G	A	1: 132,377,464 (GRCm39)	A110T	probably damaging	Het
Eif1	A	G	11: 100,211,650 (GRCm39)	K95E	probably damaging	Het
Espnl	A	G	1: 91,249,943 (GRCm39)	D30G	probably benign	Het
Gast	T	C	11: 100,227,636 (GRCm39)	S73P	probably damaging	Het
Gmppb	T	C	9: 107,927,773 (GRCm39)	Y176H	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
Gstm3	G	A	3: 107,871,551 (GRCm39)	T210I	probably benign	Het
Gtf3c3	A	G	1: 54,463,166 (GRCm39)		probably null	Het
Hmcn2	A	G	2: 31,242,897 (GRCm39)		probably null	Het
Icam2	A	G	11: 106,271,648 (GRCm39)	L94P	probably damaging	Het
Iqcm	C	A	8: 76,396,021 (GRCm39)	T188K	possibly damaging	Het
Jarid2	T	A	13: 45,056,307 (GRCm39)	N365K	probably benign	Het
Kank4	A	G	4: 98,668,370 (GRCm39)	S26P	probably damaging	Het
Lgr4	A	G	2: 109,838,542 (GRCm39)	K498E	probably benign	Het
Meltf	A	G	16: 31,703,816 (GRCm39)	H181R	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Nf1	A	G	11: 79,450,347 (GRCm39)	D511G	probably null	Het
Nhlrc3	A	G	3: 53,366,052 (GRCm39)	V147A	possibly damaging	Het
Nrap	C	T	19: 56,310,211 (GRCm39)	D1595N	probably damaging	Het
Or1e16	T	C	11: 73,286,776 (GRCm39)	Q24R	probably benign	Het
Or5p4	A	T	7: 107,680,378 (GRCm39)	I126F	probably damaging	Het
Or6c212	T	A	10: 129,558,918 (GRCm39)	D165V	possibly damaging	Het
Or6n2	T	A	1: 173,897,474 (GRCm39)	N203K	probably damaging	Het
Pgm2l1	T	C	7: 99,901,474 (GRCm39)	V121A	probably benign	Het
Phf19	A	G	2: 34,789,670 (GRCm39)	L350P	probably damaging	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
Pif1	T	A	9: 65,495,588 (GRCm39)	V166E	probably damaging	Het
Plaa	T	C	4: 94,458,125 (GRCm39)	D615G	probably damaging	Het
Prpf4b	T	C	13: 35,067,665 (GRCm39)		probably benign	Het
Rxra	T	C	2: 27,646,272 (GRCm39)	C374R	probably damaging	Het
Septin3	T	C	15: 82,170,630 (GRCm39)		probably benign	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
Slc22a15	C	T	3: 101,804,590 (GRCm39)	G145D	probably damaging	Het
Slc28a1	A	T	7: 80,775,969 (GRCm39)	I222F	probably damaging	Het
Slc43a2	T	C	11: 75,454,424 (GRCm39)	L323P	probably benign	Het
Sorbs3	A	G	14: 70,436,800 (GRCm39)		probably benign	Het
Spink10	C	T	18: 62,786,485 (GRCm39)		probably benign	Het
Suclg2	A	T	6: 95,474,649 (GRCm39)	I372N	probably damaging	Het
Sun1	C	A	5: 139,211,117 (GRCm39)	C164*	probably null	Het
Tax1bp1	T	C	6: 52,719,770 (GRCm39)	F453L	probably benign	Het
Tmem54	A	G	4: 129,002,013 (GRCm39)	N9S	probably benign	Het
Tmx4	A	G	2: 134,462,497 (GRCm39)	W145R	probably damaging	Het
Top1	A	G	2: 160,544,688 (GRCm39)	H268R	probably damaging	Het
Ttn	A	G	2: 76,641,075 (GRCm39)	L13598P	probably damaging	Het
Vmn1r40	A	G	6: 89,691,991 (GRCm39)	I269M	probably benign	Het
Wdr7	G	T	18: 63,853,907 (GRCm39)	R80L	probably benign	Het
Zap70	A	T	1: 36,810,223 (GRCm39)	Q111L	possibly damaging	Het
Zfp808	T	A	13: 62,319,897 (GRCm39)	H375Q	probably damaging	Het
Zkscan2	A	T	7: 123,094,365 (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
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'- TTCAGGCAGGGTCTCCTTAG -3'

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

Posted On

2015-04-02