Mutagenetix > Incidental Mutation

Incidental Mutation 'R1662:Pak5'

186817

Institutional Source

Beutler Lab

Gene Symbol

Pak5

Ensembl Gene

ENSMUSG00000039913

Gene Name

p21 (RAC1) activated kinase 5

Synonyms

Pak5, Pak7, 2900083L08Rik

MMRRC Submission

039698-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1662 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

135923024-136229887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135958680 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 136 (D136G)

Ref Sequence

ENSEMBL: ENSMUSP00000076440 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035264] [ENSMUST00000077200]

AlphaFold

Q8C015

Predicted Effect

probably damaging
Transcript: ENSMUST00000035264
AA Change: D136G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000047285
Gene: ENSMUSG00000039913
AA Change: D136G

Domain	Start	End	E-Value	Type
PBD	11	46	5.3e-13	SMART
low complexity region	394	415	N/A	INTRINSIC
S_TKc	449	700	1.39e-90	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000077200
AA Change: D136G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000076440
Gene: ENSMUSG00000039913
AA Change: D136G

Domain	Start	End	E-Value	Type
PBD	11	46	5.3e-13	SMART
low complexity region	394	415	N/A	INTRINSIC
S_TKc	449	700	1.39e-90	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.3%

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 member of the PAK family of Ser/Thr protein kinases. PAK family members are known to be effectors of Rac/Cdc42 GTPases, which have been implicated in the regulation of cytoskeletal dynamics, proliferation, and cell survival signaling. This kinase contains a CDC42/Rac1 interactive binding (CRIB) motif, and has been shown to bind CDC42 in the presence of GTP. This kinase is predominantly expressed in brain. It is capable of promoting neurite outgrowth, and thus may play a role in neurite development. This kinase is associated with microtubule networks and induces microtubule stabilization. The subcellular localization of this kinase is tightly regulated during cell cycle progression. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit impaired active avoidance learning but are otherwise normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730409E04Rik	T	A	4: 126,505,475 (GRCm39)	M1K	probably null	Het
5730507C01Rik	A	C	12: 18,581,967 (GRCm39)	R119S	possibly damaging	Het
Abca1	T	A	4: 53,090,251 (GRCm39)		probably null	Het
Aff1	G	A	5: 103,988,923 (GRCm39)	G830D	probably damaging	Het
AI987944	T	C	7: 41,023,873 (GRCm39)	T369A	possibly damaging	Het
Aoah	A	G	13: 21,184,283 (GRCm39)		probably null	Het
Arhgap40	C	G	2: 158,381,190 (GRCm39)	C349W	probably damaging	Het
Atic	T	A	1: 71,615,286 (GRCm39)	D438E	probably benign	Het
Barhl2	A	T	5: 106,601,365 (GRCm39)	M338K	probably benign	Het
Btd	T	C	14: 31,388,747 (GRCm39)	V156A	probably damaging	Het
Catspere2	A	G	1: 177,874,552 (GRCm39)	K140E	unknown	Het
Ccdc82	T	C	9: 13,262,397 (GRCm39)	V319A	probably damaging	Het
Celsr1	G	T	15: 85,915,263 (GRCm39)	N903K	probably damaging	Het
Cenpf	T	A	1: 189,389,968 (GRCm39)	N1288I	probably damaging	Het
Ciao1	G	A	2: 127,086,857 (GRCm39)	T252I	probably benign	Het
Cma2	T	C	14: 56,210,573 (GRCm39)	C87R	probably damaging	Het
Cops7a	T	A	6: 124,939,401 (GRCm39)	R83W	probably damaging	Het
Cxcr6	A	T	9: 123,639,613 (GRCm39)	M205L	possibly damaging	Het
Dcc	A	G	18: 71,553,409 (GRCm39)	L749P	probably benign	Het
Dync1i2	C	T	2: 71,081,323 (GRCm39)	T484I	possibly damaging	Het
Epas1	A	T	17: 87,136,455 (GRCm39)	K742N	probably damaging	Het
Evc2	A	G	5: 37,506,094 (GRCm39)	T138A	probably benign	Het
F5	T	C	1: 164,035,457 (GRCm39)	I1877T	probably damaging	Het
Fat1	T	G	8: 45,406,201 (GRCm39)	V984G	probably benign	Het
Fat4	T	A	3: 39,034,928 (GRCm39)	V2860D	probably damaging	Het
Foxn4	C	T	5: 114,394,955 (GRCm39)	R324Q	probably benign	Het
Gapdhs	C	T	7: 30,436,427 (GRCm39)	R120H	probably damaging	Het
Gcnt3	T	C	9: 69,941,659 (GRCm39)	D303G	probably benign	Het
Gng11	A	T	6: 4,008,066 (GRCm39)	Y43F	probably benign	Het
Hectd4	A	C	5: 121,455,308 (GRCm39)	M651L	probably benign	Het
Ifngr2	T	A	16: 91,357,484 (GRCm39)	Y200N	probably benign	Het
Iqgap3	T	C	3: 88,005,708 (GRCm39)	V512A	probably benign	Het
Kdm2a	A	C	19: 4,378,240 (GRCm39)	D187E	probably damaging	Het
Klhl8	A	G	5: 104,019,911 (GRCm39)	V370A	probably damaging	Het
Kmt2a	G	A	9: 44,747,967 (GRCm39)		probably benign	Het
Krt12	C	A	11: 99,311,650 (GRCm39)	V184F	probably benign	Het
Lrrc8c	A	T	5: 105,754,623 (GRCm39)	I133F	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Map1a	C	G	2: 121,136,889 (GRCm39)	S2568R	possibly damaging	Het
Mbnl1	C	A	3: 60,532,593 (GRCm39)	Q301K	probably damaging	Het
Med12l	A	T	3: 59,001,038 (GRCm39)	K724N	probably damaging	Het
Mroh2a	A	C	1: 88,169,340 (GRCm39)	I672L	probably benign	Het
Mybph	C	T	1: 134,121,374 (GRCm39)	P45S	probably benign	Het
Myo15a	T	A	11: 60,392,527 (GRCm39)	S2157T	probably damaging	Het
Or14j2	G	T	17: 37,886,164 (GRCm39)	T50K	probably damaging	Het
Or1ab2	T	C	8: 72,863,623 (GRCm39)	V71A	probably benign	Het
Or2t35	T	A	14: 14,407,880 (GRCm38)	Y217*	probably null	Het
Or5h25	T	C	16: 58,930,967 (GRCm39)	E2G	probably benign	Het
Otogl	A	G	10: 107,634,218 (GRCm39)	I1419T	possibly damaging	Het
Ovol1	A	T	19: 5,601,667 (GRCm39)	F118L	probably damaging	Het
Pik3r2	T	C	8: 71,223,250 (GRCm39)	Y417C	probably damaging	Het
Ppp2r2a	T	C	14: 67,254,052 (GRCm39)	N372S	probably benign	Het
Prss30	G	T	17: 24,191,806 (GRCm39)	N238K	possibly damaging	Het
Prss33	C	A	17: 24,053,785 (GRCm39)		probably null	Het
Ptpn4	T	C	1: 119,692,788 (GRCm39)	E187G	probably damaging	Het
Ptprg	A	T	14: 12,207,357 (GRCm38)	N100I	probably damaging	Het
Rbpms2	T	C	9: 65,558,324 (GRCm39)	V130A	probably benign	Het
Rdh7	A	T	10: 127,724,481 (GRCm39)	M1K	probably null	Het
Rtp3	A	C	9: 110,815,751 (GRCm39)	S205A	probably benign	Het
Ryr3	G	T	2: 112,539,618 (GRCm39)	D3207E	probably damaging	Het
Scn9a	T	A	2: 66,313,803 (GRCm39)	T1972S	probably benign	Het
Scnn1b	T	C	7: 121,501,551 (GRCm39)	V122A	probably benign	Het
Slc15a4	A	G	5: 127,686,043 (GRCm39)	L213S	probably damaging	Het
Slc27a5	T	A	7: 12,725,173 (GRCm39)	I425F	probably damaging	Het
Spata31d1b	A	G	13: 59,864,442 (GRCm39)	D530G	probably benign	Het
Tcf25	T	A	8: 124,108,289 (GRCm39)	S115T	probably benign	Het
Tet2	A	G	3: 133,172,613 (GRCm39)	L1883P	possibly damaging	Het
Trim21	T	A	7: 102,211,105 (GRCm39)	R205*	probably null	Het
Ttc23	G	T	7: 67,375,069 (GRCm39)		probably null	Het
Tut7	T	C	13: 59,947,717 (GRCm39)	E466G	possibly damaging	Het
Unc13d	T	C	11: 115,959,499 (GRCm39)	K658R	probably null	Het
Vmn1r43	A	G	6: 89,846,572 (GRCm39)	F305L	possibly damaging	Het
Vmn2r2	A	T	3: 64,024,551 (GRCm39)	C677S	probably benign	Het
Wnt5a	T	C	14: 28,240,300 (GRCm39)	M150T	probably benign	Het
Ythdc1	G	A	5: 86,975,981 (GRCm39)		probably null	Het
Zdbf2	A	T	1: 63,343,408 (GRCm39)	R596*	probably null	Het

Other mutations in Pak5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01671:Pak5	APN	2	135,958,293 (GRCm39)	missense	possibly damaging	0.89
IGL01743:Pak5	APN	2	135,929,333 (GRCm39)	missense	probably damaging	1.00
IGL02601:Pak5	APN	2	135,958,855 (GRCm39)	nonsense	probably null
IGL03172:Pak5	APN	2	135,940,310 (GRCm39)	nonsense	probably null
currency	UTSW	2	135,942,859 (GRCm39)	missense	probably benign	0.15
Depreciation	UTSW	2	135,939,454 (GRCm39)	missense	probably damaging	1.00
PIT4498001:Pak5	UTSW	2	135,925,211 (GRCm39)	missense	probably damaging	1.00
R0025:Pak5	UTSW	2	135,942,704 (GRCm39)	missense	possibly damaging	0.68
R0025:Pak5	UTSW	2	135,942,704 (GRCm39)	missense	possibly damaging	0.68
R0400:Pak5	UTSW	2	135,939,499 (GRCm39)	missense	possibly damaging	0.95
R0441:Pak5	UTSW	2	135,958,549 (GRCm39)	missense	probably benign
R1653:Pak5	UTSW	2	135,958,807 (GRCm39)	missense	probably damaging	1.00
R1855:Pak5	UTSW	2	135,929,429 (GRCm39)	missense	probably benign	0.00
R1872:Pak5	UTSW	2	135,927,508 (GRCm39)	missense	possibly damaging	0.93
R2001:Pak5	UTSW	2	135,958,557 (GRCm39)	missense	probably benign	0.00
R2002:Pak5	UTSW	2	135,958,557 (GRCm39)	missense	probably benign	0.00
R2157:Pak5	UTSW	2	135,942,877 (GRCm39)	missense	probably damaging	0.96
R2160:Pak5	UTSW	2	135,940,302 (GRCm39)	missense	probably benign	0.01
R2217:Pak5	UTSW	2	135,958,123 (GRCm39)	missense	probably damaging	1.00
R3797:Pak5	UTSW	2	135,942,746 (GRCm39)	missense	probably benign	0.06
R4711:Pak5	UTSW	2	135,929,437 (GRCm39)	missense	probably damaging	1.00
R4904:Pak5	UTSW	2	135,925,267 (GRCm39)	missense	probably benign	0.02
R5090:Pak5	UTSW	2	135,929,338 (GRCm39)	missense	probably damaging	1.00
R5120:Pak5	UTSW	2	135,925,149 (GRCm39)	missense	probably damaging	0.97
R5669:Pak5	UTSW	2	135,958,204 (GRCm39)	missense	probably damaging	1.00
R5954:Pak5	UTSW	2	135,958,383 (GRCm39)	missense	probably benign	0.01
R6127:Pak5	UTSW	2	135,929,326 (GRCm39)	missense	probably damaging	0.99
R6250:Pak5	UTSW	2	136,016,189 (GRCm39)	start gained	probably benign
R6471:Pak5	UTSW	2	135,958,110 (GRCm39)	missense	probably benign	0.00
R6797:Pak5	UTSW	2	135,939,454 (GRCm39)	missense	probably damaging	1.00
R6809:Pak5	UTSW	2	135,939,501 (GRCm39)	missense	possibly damaging	0.83
R6945:Pak5	UTSW	2	135,942,859 (GRCm39)	missense	probably benign	0.15
R7254:Pak5	UTSW	2	135,958,684 (GRCm39)	missense	possibly damaging	0.50
R7265:Pak5	UTSW	2	135,943,105 (GRCm39)	missense	probably benign	0.03
R7335:Pak5	UTSW	2	135,940,219 (GRCm39)	missense	probably damaging	1.00
R7511:Pak5	UTSW	2	135,925,244 (GRCm39)	missense	possibly damaging	0.87
R7573:Pak5	UTSW	2	135,958,225 (GRCm39)	missense	probably damaging	1.00
R7593:Pak5	UTSW	2	135,942,884 (GRCm39)	missense	probably benign	0.40
R7908:Pak5	UTSW	2	135,958,479 (GRCm39)	missense	probably benign	0.14
R8304:Pak5	UTSW	2	135,940,203 (GRCm39)	missense	probably benign	0.11
R9091:Pak5	UTSW	2	135,958,688 (GRCm39)	missense	probably damaging	0.98
R9177:Pak5	UTSW	2	135,943,126 (GRCm39)	missense	probably benign	0.00
R9270:Pak5	UTSW	2	135,958,688 (GRCm39)	missense	probably damaging	0.98
R9505:Pak5	UTSW	2	135,958,812 (GRCm39)	missense	probably damaging	1.00
Z1176:Pak5	UTSW	2	135,925,166 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCAATCACTTTCACTGTATGCCAGAC -3'
(R):5'- TGCTAGAGGATTTTGACAACATCTCCG -3'

Sequencing Primer
(F):5'- AGCTACTAGAGGCTCTCTGATAATCC -3'
(R):5'- TGACAACATCTCCGTGACTCG -3'

Posted On

2014-05-09