Mutagenetix > Incidental Mutation

Incidental Mutation 'R3855:Cdc42bpa'

474247

Institutional Source

Beutler Lab

Gene Symbol

Cdc42bpa

Ensembl Gene

ENSMUSG00000026490

Gene Name

CDC42 binding protein kinase alpha

Synonyms

DMPK-like, A930014J19Rik

MMRRC Submission

040901-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.834) question?

Stock #

R3855 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

179788037-179993168 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 179983543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148469 (fasta)

Gene Model

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

AlphaFold

Q3UU96

Predicted Effect

probably benign
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 benign
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 benign
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 benign
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 benign
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

unknown
Transcript: ENSMUST00000143176
AA Change: R848G

SMART Domains

Protein: ENSMUSP00000115261
Gene: ENSMUSG00000026490
AA Change: R848G

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

probably benign
Transcript: ENSMUST00000212756

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.9%
20x: 93.3%

Validation Efficiency

98% (45/46)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	A	T	4: 63,291,705 (GRCm39)	S1144R	probably damaging	Het
Apbb1ip	T	C	2: 22,765,187 (GRCm39)	S623P	unknown	Het
Apex1	A	G	14: 51,163,714 (GRCm39)	T109A	probably benign	Het
Arhgef1	G	A	7: 24,618,697 (GRCm39)	G107S	probably damaging	Het
Ccnq	T	C	11: 78,642,013 (GRCm39)	N159S	probably benign	Het
Cog2	T	C	8: 125,256,742 (GRCm39)		probably null	Het
Dennd4c	G	A	4: 86,698,084 (GRCm39)	V191M	probably damaging	Het
Dthd1	T	A	5: 62,984,472 (GRCm39)	H392Q	probably benign	Het
Dthd1	T	C	5: 63,045,366 (GRCm39)	V710A	probably benign	Het
Galnt7	T	C	8: 57,985,658 (GRCm39)		probably benign	Het
Gm4868	A	G	5: 125,925,609 (GRCm39)		noncoding transcript	Het
Gpr179	T	C	11: 97,232,260 (GRCm39)	E648G	probably damaging	Het
Hk2	T	C	6: 82,713,657 (GRCm39)	E447G	possibly damaging	Het
Idi1	G	T	13: 8,935,968 (GRCm39)	A25S	probably benign	Het
Itgb3bp	T	C	4: 99,686,957 (GRCm39)	E76G	possibly damaging	Het
Khk	A	G	5: 31,084,401 (GRCm39)	D82G	probably benign	Het
Kif17	A	G	4: 138,018,821 (GRCm39)	S533G	probably benign	Het
Kmt2a	A	G	9: 44,741,796 (GRCm39)		probably benign	Het
Kmt5c	T	C	7: 4,749,255 (GRCm39)	F104S	probably damaging	Het
Lmf1	G	A	17: 25,873,445 (GRCm39)	V317M	probably damaging	Het
Mdh1	C	T	11: 21,509,281 (GRCm39)	V234I	probably benign	Het
Nbas	T	A	12: 13,329,415 (GRCm39)	I120N	possibly damaging	Het
Nfia	A	G	4: 97,951,259 (GRCm39)	H362R	probably damaging	Het
Nhlrc2	T	C	19: 56,576,703 (GRCm39)		probably null	Het
Nme5	A	G	18: 34,702,884 (GRCm39)	S135P	possibly damaging	Het
Nt5c2	A	G	19: 46,884,957 (GRCm39)	V252A	probably damaging	Het
Nufip2	T	C	11: 77,583,715 (GRCm39)	V543A	probably damaging	Het
Or1l4b	A	T	2: 37,036,835 (GRCm39)	I204F	possibly damaging	Het
Or2y10	A	G	11: 49,454,918 (GRCm39)	T57A	probably damaging	Het
Otog	T	C	7: 45,923,184 (GRCm39)	S1020P	possibly damaging	Het
Pear1	T	C	3: 87,659,228 (GRCm39)	H814R	possibly damaging	Het
Pkd1l1	A	G	11: 8,915,047 (GRCm39)		probably null	Het
Pla2g4a	T	A	1: 149,705,928 (GRCm39)	I711F	possibly damaging	Het
Ppig	G	A	2: 69,579,719 (GRCm39)	V418I	unknown	Het
Prg4	T	C	1: 150,327,751 (GRCm39)	Y234C	probably damaging	Het
Prmt9	G	A	8: 78,294,894 (GRCm39)	V413I	probably benign	Het
Rnf145	G	A	11: 44,422,120 (GRCm39)	V68M	possibly damaging	Het
Sepsecs	G	A	5: 52,821,616 (GRCm39)	R74C	probably damaging	Het
Sgsm1	A	G	5: 113,411,125 (GRCm39)	V580A	probably benign	Het
Sh3bp1	C	T	15: 78,785,361 (GRCm39)		probably benign	Het
Sox11	C	A	12: 27,391,501 (GRCm39)	G303C	probably damaging	Het
Usp54	C	A	14: 20,638,488 (GRCm39)	M197I	probably damaging	Het
Vps26c	A	G	16: 94,311,665 (GRCm39)	F95L	probably benign	Het
Xylt1	T	G	7: 117,192,777 (GRCm39)	L361R	probably damaging	Het
Zfp512	A	G	5: 31,637,593 (GRCm39)	R505G	possibly 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
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
R6609:Cdc42bpa	UTSW	1	179,928,839 (GRCm39)	critical splice donor site	probably null
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

Posted On

2017-04-14