Mutagenetix > Incidental Mutation

Incidental Mutation 'R1917:Pak3'

212665

Institutional Source

Beutler Lab

Gene Symbol

Pak3

Ensembl Gene

ENSMUSG00000031284

Gene Name

p21 (RAC1) activated kinase 3

Synonyms

PAK-3

MMRRC Submission

039935-MU

Accession Numbers

Essential gene?

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

Stock #

R1917 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

142301587-142580792 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 142574298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 553 (A553E)

Ref Sequence

ENSEMBL: ENSMUSP00000108484 (fasta)

Gene Model

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

AlphaFold

Q61036

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033640
AA Change: A553E

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000033640
Gene: ENSMUSG00000031284
AA Change: A553E

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

possibly damaging
Transcript: ENSMUST00000112863
AA Change: A553E

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108484
Gene: ENSMUSG00000031284
AA Change: A553E

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

possibly damaging
Transcript: ENSMUST00000112864
AA Change: A538E

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108485
Gene: ENSMUSG00000031284
AA Change: A538E

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: ENSMUST00000112865
AA Change: A538E

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108486
Gene: ENSMUSG00000031284
AA Change: A538E

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: ENSMUST00000112868
AA Change: A538E

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108489
Gene: ENSMUSG00000031284
AA Change: A538E

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: ENSMUST00000172330
AA Change: A538E

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126562
Gene: ENSMUSG00000031284
AA Change: A538E

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

0.1427

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.8%
20x: 93.6%

Validation Efficiency

100% (83/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,982,341 (GRCm39)		probably benign	Het
Adgre5	A	G	8: 84,455,738 (GRCm39)	V190A	probably damaging	Het
Akap6	A	G	12: 53,151,395 (GRCm39)	N1153S	probably benign	Het
Aldh1a7	G	A	19: 20,704,819 (GRCm39)	H20Y	probably benign	Het
B430306N03Rik	A	G	17: 48,631,176 (GRCm39)	E278G	probably benign	Het
Cacna1b	C	A	2: 24,506,891 (GRCm39)	R72L	probably null	Het
Cc2d2a	C	G	5: 43,863,564 (GRCm39)	S675R	probably damaging	Het
Ccdc88b	T	A	19: 6,826,594 (GRCm39)	E1040D	probably damaging	Het
Cmtm7	A	G	9: 114,592,432 (GRCm39)	V55A	probably damaging	Het
Coq4	A	C	2: 29,679,938 (GRCm39)	T77P	probably damaging	Het
Cyp2j11	C	A	4: 96,228,211 (GRCm39)	W136L	probably damaging	Het
Dctn2	T	A	10: 127,110,918 (GRCm39)	Y86*	probably null	Het
Ddx56	A	G	11: 6,213,937 (GRCm39)		probably null	Het
Dop1b	T	C	16: 93,513,150 (GRCm39)	S30P	probably damaging	Het
Ep400	T	C	5: 110,851,441 (GRCm39)	K1347R	unknown	Het
Fat3	T	A	9: 15,908,353 (GRCm39)	T2550S	possibly damaging	Het
Fcrla	G	T	1: 170,755,095 (GRCm39)	C5*	probably null	Het
Fem1al	A	G	11: 29,774,039 (GRCm39)	S473P	probably benign	Het
Fermt1	T	A	2: 132,764,762 (GRCm39)	D365V	probably damaging	Het
Fhod3	A	G	18: 25,123,022 (GRCm39)		probably benign	Het
Fhod3	A	G	18: 25,218,658 (GRCm39)	D807G	probably benign	Het
Fnip1	C	T	11: 54,371,510 (GRCm39)	T177I	probably damaging	Het
Gart	T	C	16: 91,425,037 (GRCm39)	Y662C	probably damaging	Het
Gda	A	T	19: 21,375,004 (GRCm39)		probably benign	Het
Gk	A	G	X: 84,804,186 (GRCm39)	I85T	probably damaging	Het
Gm3476	A	G	14: 6,118,358 (GRCm38)	L255P	possibly damaging	Het
Gm9966	T	C	7: 95,607,684 (GRCm39)	C2R	unknown	Het
Gnpda1	T	C	18: 38,466,243 (GRCm39)		probably null	Het
Gtf2h4	G	A	17: 35,981,090 (GRCm39)	L246F	possibly damaging	Het
Hao1	A	T	2: 134,364,980 (GRCm39)	S216T	probably benign	Het
Hnrnpr	C	A	4: 136,059,799 (GRCm39)	S301*	probably null	Het
Hsd3b2	A	G	3: 98,619,342 (GRCm39)	I201T	probably benign	Het
Jade2	T	C	11: 51,709,365 (GRCm39)	E548G	possibly damaging	Het
Katnbl1	T	C	2: 112,239,524 (GRCm39)	I241T	probably benign	Het
Keap1	G	T	9: 21,145,102 (GRCm39)	Q299K	probably benign	Het
Kif1a	T	C	1: 92,946,753 (GRCm39)	I1650V	possibly damaging	Het
Lrba	G	A	3: 86,571,808 (GRCm39)	G275R	probably damaging	Het
Map3k9	C	A	12: 81,827,564 (GRCm39)	E29*	probably null	Het
Mat1a	G	A	14: 40,843,394 (GRCm39)	V307I	probably damaging	Het
Mcm2	A	T	6: 88,868,785 (GRCm39)	M324K	possibly damaging	Het
Metap1d	T	C	2: 71,341,871 (GRCm39)	V155A	probably damaging	Het
Mtbp	A	G	15: 55,428,073 (GRCm39)		probably benign	Het
Myh14	T	C	7: 44,307,349 (GRCm39)	T231A	probably benign	Het
Mylk4	A	T	13: 32,908,836 (GRCm39)	D90E	probably benign	Het
Myo15b	T	A	11: 115,773,080 (GRCm39)	I1837K	possibly damaging	Het
Myo3a	T	A	2: 22,296,733 (GRCm39)	H242Q	probably damaging	Het
Nxn	A	G	11: 76,152,498 (GRCm39)		probably benign	Het
Or6c2	T	A	10: 129,362,918 (GRCm39)	V274D	probably damaging	Het
Pdia2	T	A	17: 26,417,079 (GRCm39)	T122S	possibly damaging	Het
Pira12	C	T	7: 3,900,637 (GRCm39)	V38M	probably damaging	Het
Plod2	A	G	9: 92,463,310 (GRCm39)	T132A	probably benign	Het
Ptprz1	T	A	6: 23,035,039 (GRCm39)		probably benign	Het
Rad54b	A	C	4: 11,601,693 (GRCm39)	N416T	probably damaging	Het
Recql4	A	T	15: 76,588,037 (GRCm39)	Y1142*	probably null	Het
Rnf216	A	G	5: 142,978,561 (GRCm39)	V859A	probably benign	Het
Scnm1	G	T	3: 95,037,584 (GRCm39)	P161T	possibly damaging	Het
Serpinb6b	A	G	13: 33,162,223 (GRCm39)	I222V	probably benign	Het
Serpinf1	A	G	11: 75,301,833 (GRCm39)	I274T	possibly damaging	Het
Slc28a1	T	C	7: 80,819,334 (GRCm39)	F641L	probably benign	Het
Slc8a2	A	G	7: 15,886,845 (GRCm39)	I657V	probably benign	Het
Smchd1	A	G	17: 71,714,232 (GRCm39)	I877T	possibly damaging	Het
Spata31	T	C	13: 65,068,679 (GRCm39)	Y276H	possibly damaging	Het
Spire2	A	G	8: 124,089,810 (GRCm39)	D447G	probably benign	Het
Stk3	G	A	15: 35,073,363 (GRCm39)	T119I	probably damaging	Het
Stxbp5	C	A	10: 9,688,042 (GRCm39)	V420F	possibly damaging	Het
Sult2a5	T	C	7: 13,404,609 (GRCm39)	F282S	probably damaging	Het
Syk	A	T	13: 52,776,744 (GRCm39)	D248V	probably damaging	Het
Thoc6	C	T	17: 23,888,364 (GRCm39)		probably benign	Het
Timd5	A	G	11: 46,419,358 (GRCm39)	D58G	possibly damaging	Het
Tll2	T	A	19: 41,116,936 (GRCm39)	D293V	possibly damaging	Het
Umodl1	G	A	17: 31,203,017 (GRCm39)	V457M	probably damaging	Het
Usp19	T	A	9: 108,376,524 (GRCm39)	C689*	probably null	Het
Usp24	T	G	4: 106,267,483 (GRCm39)	V1955G	probably damaging	Het
Vmn1r226	T	C	17: 20,907,842 (GRCm39)	S25P	probably damaging	Het
Vmn2r69	C	T	7: 85,060,891 (GRCm39)	C231Y	probably damaging	Het
Wdr73	C	T	7: 80,543,081 (GRCm39)	D176N	probably benign	Het
Wnt7b	T	A	15: 85,443,281 (GRCm39)	I41F	probably damaging	Het
Zfhx3	T	C	8: 109,682,880 (GRCm39)	S3440P	unknown	Het
Zfp52	T	G	17: 21,780,426 (GRCm39)	N91K	probably benign	Het
Zfp930	C	A	8: 69,681,357 (GRCm39)	Q350K	probably benign	Het
Zfp949	T	C	9: 88,452,115 (GRCm39)	S562P	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
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'- AGCTGGCAGGGATTCTTTAATTAG -3'
(R):5'- TTCGACATTGCTGCCCTGTG -3'

Sequencing Primer
(F):5'- GACCTCTTTGGGGATCACATATTAG -3'
(R):5'- GCAGTTCAGGCTTACAAATAAATTAC -3'

Posted On

2014-07-14