Mutagenetix > Incidental Mutations

Incidental Mutation 'R3917:Cdc42bpa'

307321

Institutional Source

Beutler Lab

Gene Symbol

Cdc42bpa

Ensembl Gene

ENSMUSG00000026490

Gene Name

CDC42 binding protein kinase alpha

Synonyms

A930014J19Rik, DMPK-like

MMRRC Submission

040914-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.548) question?

Stock #

R3917 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

179960472-180165603 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 180106154 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148469 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076687] [ENSMUST00000097450] [ENSMUST00000097453] [ENSMUST00000097453] [ENSMUST00000111117] [ENSMUST00000134959] [ENSMUST00000135056] [ENSMUST00000212756] [ENSMUST00000212756]

Predicted Effect

probably null
Transcript: ENSMUST00000076687

SMART Domains

Protein: ENSMUSP00000075980
Gene: ENSMUSG00000026490

Domain	Start	End	E-Value	Type
S_TKc	77	343	1.06e-86	SMART
S_TK_X	344	406	1.18e-15	SMART
coiled coil region	435	588	N/A	INTRINSIC
coiled coil region	632	735	N/A	INTRINSIC
Pfam:DMPK_coil	800	860	2.7e-29	PFAM
C1	919	968	4.09e-7	SMART
PH	989	1109	6.02e-8	SMART
CNH	1134	1411	3.37e-17	SMART
low complexity region	1456	1468	N/A	INTRINSIC
PBD	1477	1512	2.05e-10	SMART
low complexity region	1531	1546	N/A	INTRINSIC
low complexity region	1567	1580	N/A	INTRINSIC
low complexity region	1606	1620	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000097450

SMART Domains

Protein: ENSMUSP00000095059
Gene: ENSMUSG00000026490

Domain	Start	End	E-Value	Type
S_TKc	77	343	1.06e-86	SMART
S_TK_X	344	406	1.18e-15	SMART
coiled coil region	435	669	N/A	INTRINSIC
coiled coil region	713	816	N/A	INTRINSIC
Pfam:DMPK_coil	881	941	2.2e-29	PFAM
C1	1000	1049	4.09e-7	SMART
PH	1070	1190	6.02e-8	SMART
CNH	1215	1492	3.37e-17	SMART
low complexity region	1537	1549	N/A	INTRINSIC
PBD	1558	1593	2.05e-10	SMART
low complexity region	1612	1627	N/A	INTRINSIC
low complexity region	1648	1661	N/A	INTRINSIC
low complexity region	1687	1701	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000097453

SMART Domains

Protein: ENSMUSP00000095062
Gene: ENSMUSG00000026490

Domain	Start	End	E-Value	Type
S_TKc	77	343	1.06e-86	SMART
S_TK_X	344	406	1.18e-15	SMART
coiled coil region	435	669	N/A	INTRINSIC
coiled coil region	713	816	N/A	INTRINSIC
Pfam:DMPK_coil	881	941	2.5e-29	PFAM
C1	972	1021	4.09e-7	SMART
PH	1042	1162	6.02e-8	SMART
CNH	1187	1464	3.37e-17	SMART
low complexity region	1509	1521	N/A	INTRINSIC
PBD	1530	1565	2.05e-10	SMART
low complexity region	1584	1599	N/A	INTRINSIC
low complexity region	1620	1633	N/A	INTRINSIC
low complexity region	1659	1673	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000097453

SMART Domains

Protein: ENSMUSP00000095062
Gene: ENSMUSG00000026490

Domain	Start	End	E-Value	Type
S_TKc	77	343	1.06e-86	SMART
S_TK_X	344	406	1.18e-15	SMART
coiled coil region	435	669	N/A	INTRINSIC
coiled coil region	713	816	N/A	INTRINSIC
Pfam:DMPK_coil	881	941	2.5e-29	PFAM
C1	972	1021	4.09e-7	SMART
PH	1042	1162	6.02e-8	SMART
CNH	1187	1464	3.37e-17	SMART
low complexity region	1509	1521	N/A	INTRINSIC
PBD	1530	1565	2.05e-10	SMART
low complexity region	1584	1599	N/A	INTRINSIC
low complexity region	1620	1633	N/A	INTRINSIC
low complexity region	1659	1673	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000111117

SMART Domains

Protein: ENSMUSP00000106746
Gene: ENSMUSG00000026490

Domain	Start	End	E-Value	Type
S_TKc	77	343	1.06e-86	SMART
S_TK_X	344	406	1.18e-15	SMART
low complexity region	484	499	N/A	INTRINSIC
Pfam:KELK	529	608	1.1e-32	PFAM
coiled coil region	713	816	N/A	INTRINSIC
Pfam:DMPK_coil	881	941	2.6e-29	PFAM
C1	1013	1062	4.09e-7	SMART
PH	1083	1203	6.02e-8	SMART
CNH	1228	1505	3.37e-17	SMART
low complexity region	1550	1562	N/A	INTRINSIC
PBD	1571	1606	2.05e-10	SMART
low complexity region	1625	1640	N/A	INTRINSIC
low complexity region	1661	1674	N/A	INTRINSIC
low complexity region	1700	1714	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000133890

SMART Domains

Protein: ENSMUSP00000116337
Gene: ENSMUSG00000026490

Domain	Start	End	E-Value	Type
coiled coil region	6	109	N/A	INTRINSIC
Pfam:DMPK_coil	175	235	1.4e-29	PFAM
C1	329	378	4.09e-7	SMART
PH	399	519	6.02e-8	SMART
CNH	544	821	3.37e-17	SMART
low complexity region	866	878	N/A	INTRINSIC
PBD	887	922	2.05e-10	SMART
low complexity region	941	956	N/A	INTRINSIC
low complexity region	977	990	N/A	INTRINSIC
low complexity region	1016	1030	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134959

SMART Domains

Protein: ENSMUSP00000142018
Gene: ENSMUSG00000026490

Domain	Start	End	E-Value	Type
PDB:4AW2\|A	2	90	1e-58	PDB
SCOP:d1koba_	50	90	7e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135056

SMART Domains

Protein: ENSMUSP00000114333
Gene: ENSMUSG00000026490

Domain	Start	End	E-Value	Type
Pfam:DMPK_coil	59	119	9e-30	PFAM
low complexity region	148	156	N/A	INTRINSIC
C1	229	278	4.09e-7	SMART
PH	299	419	6.02e-8	SMART
CNH	444	721	3.37e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000143176

SMART Domains

Protein: ENSMUSP00000115261
Gene: ENSMUSG00000026490

Domain	Start	End	E-Value	Type
Pfam:DMPK_coil	84	144	1.3e-29	PFAM
C1	203	252	4.09e-7	SMART
PH	273	393	6.02e-8	SMART
CNH	418	695	3.37e-17	SMART
low complexity region	740	752	N/A	INTRINSIC
PBD	761	796	1.02e-5	SMART
PBD	802	839	2.21e-1	SMART
low complexity region	877	892	N/A	INTRINSIC
low complexity region	913	926	N/A	INTRINSIC
low complexity region	952	966	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152582

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194974

Predicted Effect

probably null
Transcript: ENSMUST00000212756

Predicted Effect

probably null
Transcript: ENSMUST00000212756

Meta Mutation Damage Score

0.9492

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.0%

Validation Efficiency

97% (74/76)

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 Serine/Threonine protein kinase family. This kinase contains multiple functional domains. Its kinase domain is highly similar to that of the myotonic dystrophy protein kinase (DMPK). This kinase also contains a Rac interactive binding (CRIB) domain, and has been shown to bind CDC42. It may function as a CDC42 downstream effector mediating CDC42 induced peripheral actin formation, and promoting cytoskeletal reorganization. Multiple alternatively spliced transcript variants have been described, and the full-length nature of two of them has been reported. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	A	G	5: 121,599,214	V498A	probably damaging	Het
Adam19	A	G	11: 46,060,935	E37G	probably benign	Het
Apol11b	A	G	15: 77,635,304	I192T	probably benign	Het
Appl1	A	T	14: 26,928,604	F537Y	probably damaging	Het
Atad5	A	C	11: 80,103,294	K785N	probably null	Het
Atp1b2	A	G	11: 69,603,075	V93A	probably damaging	Het
Bcam	T	C	7: 19,765,450	Y216C	probably damaging	Het
Brca2	A	G	5: 150,540,827	E1352G	probably damaging	Het
C030005K15Rik	A	C	10: 97,725,591	S93A	unknown	Het
Cadps	C	T	14: 12,457,702	A1060T	probably benign	Het
Ccdc88c	A	G	12: 100,941,107		probably null	Het
Ccdc89	A	G	7: 90,426,825	D81G	probably damaging	Het
Ccnt1	A	G	15: 98,544,059	S443P	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdk11b	T	C	4: 155,626,801	S47P	probably damaging	Het
Cfap43	T	C	19: 47,897,750	D142G	probably benign	Het
Cntnap4	C	G	8: 112,875,533	P1190A	probably benign	Het
Colgalt2	T	A	1: 152,508,611	Y567*	probably null	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,585,549		probably benign	Het
Dock7	T	C	4: 99,016,685	Y651C	probably damaging	Het
Fzd3	A	T	14: 65,235,930	F130I	probably damaging	Het
Gabarapl2	T	A	8: 111,952,396	F115L	probably benign	Het
Gm1043	G	A	5: 37,192,941		probably benign	Het
Gm12185	A	G	11: 48,915,933	F144L	probably benign	Het
Gm14124	T	A	2: 150,266,119		probably benign	Het
Gm21961	A	T	15: 65,014,884	D7E	unknown	Het
Gtf3a	A	G	5: 146,955,434	K332E	probably benign	Het
Haao	A	G	17: 83,838,799		probably null	Het
Habp2	T	A	19: 56,311,179	C170S	probably damaging	Het
Heatr3	T	G	8: 88,150,371		probably null	Het
Herc1	T	G	9: 66,434,466	C1846G	possibly damaging	Het
Hivep3	T	C	4: 120,099,427	S1647P	probably benign	Het
Hnrnpul1	C	T	7: 25,726,875	R517Q	probably damaging	Het
Hspg2	A	G	4: 137,559,314	E3648G	probably damaging	Het
Jaml	T	C	9: 45,101,151		probably benign	Het
Jund	C	T	8: 70,699,023		probably benign	Het
Klra14-ps	T	C	6: 130,157,632		noncoding transcript	Het
Krt88	G	A	15: 101,452,928		probably null	Het
Lrp5	G	A	19: 3,612,330	R173C	probably damaging	Het
Lyzl4	T	A	9: 121,583,035	D105V	probably damaging	Het
Mst1	A	G	9: 108,084,295	I575V	probably benign	Het
Myd88	T	C	9: 119,341,398		probably benign	Het
Myo1d	A	T	11: 80,666,578	V512E	probably damaging	Het
Ndufv1	A	G	19: 4,010,002	Y33H	probably damaging	Het
Nwd1	T	A	8: 72,667,811	C608*	probably null	Het
Olfr118	T	A	17: 37,672,793	F257I	probably damaging	Het
Olfr884	A	T	9: 38,047,545	I108F	probably damaging	Het
Patj	A	T	4: 98,592,008	K1317*	probably null	Het
Pld5	A	G	1: 175,963,938	S501P	probably benign	Het
Pnpo	A	G	11: 96,939,757	V146A	probably damaging	Het
Ppdpf	A	G	2: 181,187,728	Y16C	probably benign	Het
Ppp1r27	A	G	11: 120,550,959	V32A	possibly damaging	Het
Rbm28	T	C	6: 29,154,789	D294G	probably benign	Het
Sdk1	T	A	5: 142,051,244	D817E	probably damaging	Het
Shank3	A	G	15: 89,503,384	D252G	possibly damaging	Het
Slc29a1	A	T	17: 45,588,973		probably null	Het
Slc35a5	G	C	16: 45,158,158		probably benign	Het
Slc6a5	T	C	7: 49,911,869	S50P	probably damaging	Het
Slfn8	A	T	11: 83,016,993	Y241*	probably null	Het
Slu7	G	T	11: 43,440,684		probably null	Het
Smad2	T	A	18: 76,287,937	D82E	probably benign	Het
Spx	A	C	6: 142,414,031	E33A	probably damaging	Het
Tdp1	A	G	12: 99,894,717	Y205C	probably damaging	Het
Tekt1	A	G	11: 72,345,748	I296T	possibly damaging	Het
Tgm1	G	A	14: 55,712,757		probably benign	Het
Tnks	A	G	8: 34,853,361	S719P	probably damaging	Het
Trip6	A	G	5: 137,313,679	C47R	probably benign	Het
Trpv3	A	G	11: 73,283,734	D309G	possibly damaging	Het
Tti2	A	G	8: 31,153,519	K221E	possibly damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Vmn1r57	A	T	7: 5,220,631	N52Y	probably damaging	Het
Vmn2r94	A	G	17: 18,244,358	F557L	probably benign	Het
Zbed5	T	C	5: 129,902,277	Y356H	possibly damaging	Het
Zic4	C	A	9: 91,384,341		probably benign	Het

Other mutations in Cdc42bpa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Cdc42bpa	APN	1	180106121	missense	probably damaging	1.00
IGL00807:Cdc42bpa	APN	1	180141453	missense	possibly damaging	0.88
IGL00972:Cdc42bpa	APN	1	180074684	missense	probably benign	0.00
IGL01084:Cdc42bpa	APN	1	180142274	splice site	probably benign
IGL01149:Cdc42bpa	APN	1	180074572	missense	probably damaging	0.99
IGL01377:Cdc42bpa	APN	1	180065143	missense	probably damaging	1.00
IGL01541:Cdc42bpa	APN	1	180151158	critical splice acceptor site	probably null
IGL01657:Cdc42bpa	APN	1	180111866	missense	probably benign	0.05
IGL01720:Cdc42bpa	APN	1	180111282	missense	probably damaging	1.00
IGL02227:Cdc42bpa	APN	1	180094424	missense	possibly damaging	0.64
IGL02234:Cdc42bpa	APN	1	180151191	nonsense	probably null
IGL02253:Cdc42bpa	APN	1	180031596	splice site	probably benign
IGL02587:Cdc42bpa	APN	1	180093945	missense	possibly damaging	0.91
IGL02671:Cdc42bpa	APN	1	180061822	missense	probably benign
IGL02746:Cdc42bpa	APN	1	180111747	missense	possibly damaging	0.91
IGL02756:Cdc42bpa	APN	1	180109259	missense	possibly damaging	0.77
IGL02994:Cdc42bpa	APN	1	179999437	missense	probably damaging	1.00
IGL03073:Cdc42bpa	APN	1	180094376	splice site	probably benign
IGL03295:Cdc42bpa	APN	1	180150204	missense	probably benign	0.00
P0022:Cdc42bpa	UTSW	1	179961276	missense	probably damaging	0.99
PIT4142001:Cdc42bpa	UTSW	1	180031560	missense	probably damaging	1.00
R0125:Cdc42bpa	UTSW	1	179961198	missense	probably damaging	1.00
R0268:Cdc42bpa	UTSW	1	180155782	intron	probably benign
R0472:Cdc42bpa	UTSW	1	180040179	missense	probably damaging	1.00
R0492:Cdc42bpa	UTSW	1	180101190	missense	probably benign	0.00
R0609:Cdc42bpa	UTSW	1	180040179	missense	probably damaging	1.00
R0691:Cdc42bpa	UTSW	1	180144835	missense	possibly damaging	0.91
R0738:Cdc42bpa	UTSW	1	179999462	splice site	probably benign
R1547:Cdc42bpa	UTSW	1	180074644	missense	probably damaging	0.99
R1553:Cdc42bpa	UTSW	1	180093975	missense	probably benign	0.01
R1601:Cdc42bpa	UTSW	1	180065001	nonsense	probably null
R1709:Cdc42bpa	UTSW	1	180067224	missense	probably damaging	1.00
R2101:Cdc42bpa	UTSW	1	180146968	missense	probably benign	0.39
R2279:Cdc42bpa	UTSW	1	180036919	missense	probably damaging	0.99
R2357:Cdc42bpa	UTSW	1	180067227	missense	possibly damaging	0.81
R2373:Cdc42bpa	UTSW	1	180111784	missense	possibly damaging	0.78
R2570:Cdc42bpa	UTSW	1	180150177	missense	possibly damaging	0.84
R3709:Cdc42bpa	UTSW	1	180065063	missense	probably damaging	1.00
R3710:Cdc42bpa	UTSW	1	180065063	missense	probably damaging	1.00
R3816:Cdc42bpa	UTSW	1	180144886	missense	possibly damaging	0.80
R3854:Cdc42bpa	UTSW	1	180155978	intron	probably benign
R3855:Cdc42bpa	UTSW	1	180155978	intron	probably benign
R4604:Cdc42bpa	UTSW	1	180109194	missense	probably benign	0.00
R4622:Cdc42bpa	UTSW	1	180074658	missense	probably damaging	0.98
R4664:Cdc42bpa	UTSW	1	180144565	missense	probably damaging	0.99
R4665:Cdc42bpa	UTSW	1	180144565	missense	probably damaging	0.99
R4887:Cdc42bpa	UTSW	1	180144635	missense	possibly damaging	0.61
R4989:Cdc42bpa	UTSW	1	180137801	missense	probably damaging	0.99
R5033:Cdc42bpa	UTSW	1	180065015	missense	probably damaging	1.00
R5050:Cdc42bpa	UTSW	1	180072453	nonsense	probably null
R5077:Cdc42bpa	UTSW	1	180094533	intron	probably benign
R5196:Cdc42bpa	UTSW	1	180072413	missense	probably benign	0.09
R5276:Cdc42bpa	UTSW	1	180137850	missense	probably damaging	1.00
R5313:Cdc42bpa	UTSW	1	180084433	missense	probably benign
R5364:Cdc42bpa	UTSW	1	180067182	missense	probably benign	0.06
R5372:Cdc42bpa	UTSW	1	180064979	missense	probably damaging	1.00
R5405:Cdc42bpa	UTSW	1	180067329	missense	probably damaging	1.00
R5405:Cdc42bpa	UTSW	1	180138520	missense	possibly damaging	0.95
R5646:Cdc42bpa	UTSW	1	180106094	missense	probably damaging	0.99
R5713:Cdc42bpa	UTSW	1	180084410	missense	probably benign	0.03
R6012:Cdc42bpa	UTSW	1	180065090	missense	probably damaging	1.00
R6029:Cdc42bpa	UTSW	1	180111787	missense	probably damaging	1.00
R6378:Cdc42bpa	UTSW	1	180093996	missense	possibly damaging	0.91
R6609:Cdc42bpa	UTSW	1	180101274	critical splice donor site	probably null
R7122:Cdc42bpa	UTSW	1	180065018	missense	probably damaging	1.00
R7289:Cdc42bpa	UTSW	1	180061797	nonsense	probably null
R7670:Cdc42bpa	UTSW	1	180065081	missense	probably damaging	1.00
R7912:Cdc42bpa	UTSW	1	180094013	missense	probably damaging	1.00
R7993:Cdc42bpa	UTSW	1	180094013	missense	probably damaging	1.00
X0026:Cdc42bpa	UTSW	1	179961198	missense	probably damaging	1.00
Z1176:Cdc42bpa	UTSW	1	180065093	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACCTTGAGAATACAGTCTGG -3'
(R):5'- TTCAGGAGGACAAAACTATGGGA -3'

Sequencing Primer
(F):5'- CCTCTTAGTTGGTCAGGAGAATAC -3'
(R):5'- CTATGGGAGGAGTAAAACTAAGACTG -3'

Posted On

2015-04-17