Mutagenetix > Incidental Mutation

Incidental Mutation 'R6609:Cdc42bpa'

525794

Institutional Source

Beutler Lab

Gene Symbol

Cdc42bpa

Ensembl Gene

ENSMUSG00000026490

Gene Name

CDC42 binding protein kinase alpha

Synonyms

DMPK-like, A930014J19Rik

MMRRC Submission

044732-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.834) question?

Stock #

R6609 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

179788037-179993168 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to G at 179928839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148469 (fasta)

Gene Model

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

AlphaFold

Q3UU96

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: 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 null
Transcript: ENSMUST00000212756

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

100% (34/34)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	C	T	12: 118,892,497 (GRCm39)	V421I	probably damaging	Het
Bpifb3	T	A	2: 153,762,568 (GRCm39)		probably null	Het
C1rl	T	C	6: 124,485,583 (GRCm39)	V318A	probably benign	Het
Cacna1b	C	T	2: 24,543,061 (GRCm39)	V1264M	probably damaging	Het
Cacna1s	A	G	1: 136,041,129 (GRCm39)	D1551G	probably benign	Het
Cdc7	G	A	5: 107,120,924 (GRCm39)	R182H	probably benign	Het
Cep20	TTGTG	TTG	16: 14,118,009 (GRCm39)		probably null	Het
Cyth1	A	T	11: 118,061,686 (GRCm39)	L309Q	probably damaging	Het
Dnah6	G	A	6: 73,030,678 (GRCm39)	T3378I	possibly damaging	Het
Get4	A	G	5: 139,254,820 (GRCm39)		probably benign	Het
Gm136	T	A	4: 34,746,526 (GRCm39)	M162L	probably benign	Het
Grik5	G	T	7: 24,714,951 (GRCm39)	S681*	probably null	Het
Hsf5	C	T	11: 87,526,779 (GRCm39)	P484S	probably damaging	Het
Kcnc2	G	C	10: 112,107,761 (GRCm39)	G51R	probably benign	Het
Kl	A	T	5: 150,912,427 (GRCm39)	K725N	probably benign	Het
Lama3	G	A	18: 12,646,735 (GRCm39)	V144M	probably damaging	Het
Lrrc14	T	C	15: 76,598,453 (GRCm39)	V363A	probably benign	Het
Mettl15	T	C	2: 108,967,687 (GRCm39)	R200G	probably null	Het
Mki67	T	C	7: 135,301,558 (GRCm39)	T1159A	possibly damaging	Het
Muc6	G	C	7: 141,226,700 (GRCm39)		probably benign	Het
Ndufb5	C	G	3: 32,795,832 (GRCm39)	T8R	probably benign	Het
Or4f60	T	C	2: 111,902,509 (GRCm39)	M140V	probably benign	Het
Or6ae1	C	A	7: 139,742,476 (GRCm39)	R129L	probably benign	Het
Pde1a	T	A	2: 79,736,484 (GRCm39)	D15V	probably damaging	Het
Plcg2	G	A	8: 118,294,909 (GRCm39)	G191S	probably benign	Het
Ptprq	T	C	10: 107,408,829 (GRCm39)	T1895A	probably damaging	Het
Pxdn	T	C	12: 30,052,940 (GRCm39)	V1039A	probably benign	Het
Slc26a5	T	C	5: 22,024,717 (GRCm39)	I456V	possibly damaging	Het
Smco4	C	T	9: 15,456,031 (GRCm39)	A39V	probably damaging	Het
Tmem102	T	A	11: 69,695,940 (GRCm39)	L40F	probably damaging	Het
Ylpm1	C	G	12: 85,062,051 (GRCm39)	P651A	unknown	Het
Zfp985	A	T	4: 147,667,578 (GRCm39)	M149L	probably benign	Het
Zfp985	T	C	4: 147,668,124 (GRCm39)	F331L	probably damaging	Het

Other mutations in Cdc42bpa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Cdc42bpa	APN	1	179,933,686 (GRCm39)	missense	probably damaging	1.00
IGL00807:Cdc42bpa	APN	1	179,969,018 (GRCm39)	missense	possibly damaging	0.88
IGL00972:Cdc42bpa	APN	1	179,902,249 (GRCm39)	missense	probably benign	0.00
IGL01084:Cdc42bpa	APN	1	179,969,839 (GRCm39)	splice site	probably benign
IGL01149:Cdc42bpa	APN	1	179,902,137 (GRCm39)	missense	probably damaging	0.99
IGL01377:Cdc42bpa	APN	1	179,892,708 (GRCm39)	missense	probably damaging	1.00
IGL01541:Cdc42bpa	APN	1	179,978,723 (GRCm39)	critical splice acceptor site	probably null
IGL01657:Cdc42bpa	APN	1	179,939,431 (GRCm39)	missense	probably benign	0.05
IGL01720:Cdc42bpa	APN	1	179,938,847 (GRCm39)	missense	probably damaging	1.00
IGL02227:Cdc42bpa	APN	1	179,921,989 (GRCm39)	missense	possibly damaging	0.64
IGL02234:Cdc42bpa	APN	1	179,978,756 (GRCm39)	nonsense	probably null
IGL02253:Cdc42bpa	APN	1	179,859,161 (GRCm39)	splice site	probably benign
IGL02587:Cdc42bpa	APN	1	179,921,510 (GRCm39)	missense	possibly damaging	0.91
IGL02671:Cdc42bpa	APN	1	179,889,387 (GRCm39)	missense	probably benign
IGL02746:Cdc42bpa	APN	1	179,939,312 (GRCm39)	missense	possibly damaging	0.91
IGL02756:Cdc42bpa	APN	1	179,936,824 (GRCm39)	missense	possibly damaging	0.77
IGL02994:Cdc42bpa	APN	1	179,827,002 (GRCm39)	missense	probably damaging	1.00
IGL03073:Cdc42bpa	APN	1	179,921,941 (GRCm39)	splice site	probably benign
IGL03295:Cdc42bpa	APN	1	179,977,769 (GRCm39)	missense	probably benign	0.00
P0022:Cdc42bpa	UTSW	1	179,788,841 (GRCm39)	missense	probably damaging	0.99
PIT4142001:Cdc42bpa	UTSW	1	179,859,125 (GRCm39)	missense	probably damaging	1.00
R0125:Cdc42bpa	UTSW	1	179,788,763 (GRCm39)	missense	probably damaging	1.00
R0268:Cdc42bpa	UTSW	1	179,983,347 (GRCm39)	intron	probably benign
R0472:Cdc42bpa	UTSW	1	179,867,744 (GRCm39)	missense	probably damaging	1.00
R0492:Cdc42bpa	UTSW	1	179,928,755 (GRCm39)	missense	probably benign	0.00
R0609:Cdc42bpa	UTSW	1	179,867,744 (GRCm39)	missense	probably damaging	1.00
R0691:Cdc42bpa	UTSW	1	179,972,400 (GRCm39)	missense	possibly damaging	0.91
R0738:Cdc42bpa	UTSW	1	179,827,027 (GRCm39)	splice site	probably benign
R1547:Cdc42bpa	UTSW	1	179,902,209 (GRCm39)	missense	probably damaging	0.99
R1553:Cdc42bpa	UTSW	1	179,921,540 (GRCm39)	missense	probably benign	0.01
R1601:Cdc42bpa	UTSW	1	179,892,566 (GRCm39)	nonsense	probably null
R1709:Cdc42bpa	UTSW	1	179,894,789 (GRCm39)	missense	probably damaging	1.00
R2101:Cdc42bpa	UTSW	1	179,974,533 (GRCm39)	missense	probably benign	0.39
R2279:Cdc42bpa	UTSW	1	179,864,484 (GRCm39)	missense	probably damaging	0.99
R2357:Cdc42bpa	UTSW	1	179,894,792 (GRCm39)	missense	possibly damaging	0.81
R2373:Cdc42bpa	UTSW	1	179,939,349 (GRCm39)	missense	possibly damaging	0.78
R2570:Cdc42bpa	UTSW	1	179,977,742 (GRCm39)	missense	possibly damaging	0.84
R3709:Cdc42bpa	UTSW	1	179,892,628 (GRCm39)	missense	probably damaging	1.00
R3710:Cdc42bpa	UTSW	1	179,892,628 (GRCm39)	missense	probably damaging	1.00
R3816:Cdc42bpa	UTSW	1	179,972,451 (GRCm39)	missense	possibly damaging	0.80
R3854:Cdc42bpa	UTSW	1	179,983,543 (GRCm39)	intron	probably benign
R3855:Cdc42bpa	UTSW	1	179,983,543 (GRCm39)	intron	probably benign
R3917:Cdc42bpa	UTSW	1	179,933,719 (GRCm39)	critical splice donor site	probably null
R4604:Cdc42bpa	UTSW	1	179,936,759 (GRCm39)	missense	probably benign	0.00
R4622:Cdc42bpa	UTSW	1	179,902,223 (GRCm39)	missense	probably damaging	0.98
R4664:Cdc42bpa	UTSW	1	179,972,130 (GRCm39)	missense	probably damaging	0.99
R4665:Cdc42bpa	UTSW	1	179,972,130 (GRCm39)	missense	probably damaging	0.99
R4887:Cdc42bpa	UTSW	1	179,972,200 (GRCm39)	missense	possibly damaging	0.61
R4989:Cdc42bpa	UTSW	1	179,965,366 (GRCm39)	missense	probably damaging	0.99
R5033:Cdc42bpa	UTSW	1	179,892,580 (GRCm39)	missense	probably damaging	1.00
R5050:Cdc42bpa	UTSW	1	179,900,018 (GRCm39)	nonsense	probably null
R5077:Cdc42bpa	UTSW	1	179,922,098 (GRCm39)	intron	probably benign
R5196:Cdc42bpa	UTSW	1	179,899,978 (GRCm39)	missense	probably benign	0.09
R5276:Cdc42bpa	UTSW	1	179,965,415 (GRCm39)	missense	probably damaging	1.00
R5313:Cdc42bpa	UTSW	1	179,911,998 (GRCm39)	missense	probably benign
R5364:Cdc42bpa	UTSW	1	179,894,747 (GRCm39)	missense	probably benign	0.06
R5372:Cdc42bpa	UTSW	1	179,892,544 (GRCm39)	missense	probably damaging	1.00
R5405:Cdc42bpa	UTSW	1	179,966,085 (GRCm39)	missense	possibly damaging	0.95
R5405:Cdc42bpa	UTSW	1	179,894,894 (GRCm39)	missense	probably damaging	1.00
R5646:Cdc42bpa	UTSW	1	179,933,659 (GRCm39)	missense	probably damaging	0.99
R5713:Cdc42bpa	UTSW	1	179,911,975 (GRCm39)	missense	probably benign	0.03
R6012:Cdc42bpa	UTSW	1	179,892,655 (GRCm39)	missense	probably damaging	1.00
R6029:Cdc42bpa	UTSW	1	179,939,352 (GRCm39)	missense	probably damaging	1.00
R6378:Cdc42bpa	UTSW	1	179,921,561 (GRCm39)	missense	possibly damaging	0.91
R7122:Cdc42bpa	UTSW	1	179,892,583 (GRCm39)	missense	probably damaging	1.00
R7289:Cdc42bpa	UTSW	1	179,889,362 (GRCm39)	nonsense	probably null
R7670:Cdc42bpa	UTSW	1	179,892,646 (GRCm39)	missense	probably damaging	1.00
R7912:Cdc42bpa	UTSW	1	179,921,578 (GRCm39)	missense	probably damaging	1.00
R8139:Cdc42bpa	UTSW	1	179,896,884 (GRCm39)	missense	probably damaging	1.00
R8362:Cdc42bpa	UTSW	1	179,989,690 (GRCm39)	missense	probably damaging	0.98
R8378:Cdc42bpa	UTSW	1	179,989,709 (GRCm39)	missense	probably damaging	0.98
R8794:Cdc42bpa	UTSW	1	179,894,816 (GRCm39)	missense	probably damaging	1.00
R8835:Cdc42bpa	UTSW	1	179,896,916 (GRCm39)	missense	probably damaging	1.00
R8896:Cdc42bpa	UTSW	1	179,958,373 (GRCm39)	intron	probably benign
R9012:Cdc42bpa	UTSW	1	179,859,077 (GRCm39)	missense
R9110:Cdc42bpa	UTSW	1	179,945,258 (GRCm39)	missense	possibly damaging	0.67
R9178:Cdc42bpa	UTSW	1	179,958,401 (GRCm39)	missense
R9184:Cdc42bpa	UTSW	1	179,972,301 (GRCm39)	missense	probably benign	0.13
R9204:Cdc42bpa	UTSW	1	179,939,460 (GRCm39)	critical splice donor site	probably null
R9227:Cdc42bpa	UTSW	1	179,933,638 (GRCm39)	missense	probably benign
R9230:Cdc42bpa	UTSW	1	179,933,638 (GRCm39)	missense	probably benign
R9299:Cdc42bpa	UTSW	1	179,972,073 (GRCm39)	missense	probably damaging	1.00
R9366:Cdc42bpa	UTSW	1	179,921,675 (GRCm39)	missense	probably damaging	1.00
R9381:Cdc42bpa	UTSW	1	179,969,048 (GRCm39)	missense	probably damaging	0.97
R9461:Cdc42bpa	UTSW	1	179,969,861 (GRCm39)	missense	probably damaging	1.00
R9559:Cdc42bpa	UTSW	1	179,939,459 (GRCm39)	critical splice donor site	probably null
X0026:Cdc42bpa	UTSW	1	179,788,763 (GRCm39)	missense	probably damaging	1.00
Z1176:Cdc42bpa	UTSW	1	179,892,658 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATATGCAGCATAGAACATCAGCAAG -3'
(R):5'- AAAGGTCCTTCTTGCGCCTC -3'

Sequencing Primer
(F):5'- CTAAACTGAAAACTGACTTGGAAAAG -3'
(R):5'- CCTCTTGGCTGCTTCTACAC -3'

Posted On

2018-06-22