Mutagenetix > Incidental Mutation

Incidental Mutation 'R0738:Cdc42bpa'

70555

Institutional Source

Beutler Lab

Gene Symbol

Cdc42bpa

Ensembl Gene

ENSMUSG00000026490

Gene Name

CDC42 binding protein kinase alpha

Synonyms

DMPK-like, A930014J19Rik

MMRRC Submission

038919-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.834) question?

Stock #

R0738 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

179788037-179993168 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 179827027 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 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

noncoding transcript
Transcript: ENSMUST00000132894

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

noncoding transcript
Transcript: ENSMUST00000143350

Predicted Effect

probably benign
Transcript: ENSMUST00000212756

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.6%
20x: 92.3%

Validation Efficiency

98% (46/47)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	T	5: 99,388,812 (GRCm39)	M189K	probably benign	Het
Ank1	A	T	8: 23,604,130 (GRCm39)	E964D	probably damaging	Het
Ankhd1	A	G	18: 36,778,302 (GRCm39)		probably benign	Het
Cd9	G	T	6: 125,439,103 (GRCm39)	Q169K	probably benign	Het
Ch25h	T	C	19: 34,451,787 (GRCm39)	N247S	possibly damaging	Het
Dctn1	T	C	6: 83,167,089 (GRCm39)		probably null	Het
Defa22	C	T	8: 21,652,391 (GRCm39)	T19I	probably benign	Het
Dscam	T	C	16: 96,620,981 (GRCm39)	N576D	possibly damaging	Het
Epha3	T	C	16: 63,415,975 (GRCm39)	M675V	probably damaging	Het
Fam241a	C	A	3: 127,664,442 (GRCm39)	A120S	possibly damaging	Het
Fkbp8	T	A	8: 70,982,320 (GRCm39)	I86N	probably damaging	Het
Herc4	C	T	10: 63,124,928 (GRCm39)	P514L	possibly damaging	Het
Ide	A	T	19: 37,255,364 (GRCm39)	L813*	probably null	Het
Igkv12-41	G	A	6: 69,835,675 (GRCm39)	Q26*	probably null	Het
Itsn2	T	C	12: 4,685,681 (GRCm39)	V483A	probably benign	Het
Kcp	A	T	6: 29,490,438 (GRCm39)	I1002N	probably benign	Het
Lrfn5	G	T	12: 61,887,378 (GRCm39)	E389*	probably null	Het
Lrp6	G	T	6: 134,519,008 (GRCm39)	A19E	probably benign	Het
Mad1l1	A	G	5: 140,286,315 (GRCm39)	L228P	probably damaging	Het
Map2	T	C	1: 66,464,348 (GRCm39)		probably benign	Het
Med13l	T	A	5: 118,889,698 (GRCm39)	Y1820N	probably damaging	Het
Mgam	A	G	6: 40,731,869 (GRCm39)	N735S	probably benign	Het
Mid2	A	G	X: 139,664,425 (GRCm39)	Y618C	probably damaging	Het
Mllt11	G	A	3: 95,127,597 (GRCm39)	Q58*	probably null	Het
Mttp	A	G	3: 137,809,074 (GRCm39)	V678A	probably damaging	Het
Nfatc1	A	G	18: 80,741,125 (GRCm39)	S278P	probably damaging	Het
Ninj2	A	G	6: 120,175,098 (GRCm39)		probably benign	Het
Nsd3	T	A	8: 26,168,725 (GRCm39)		probably null	Het
Or5b102	A	T	19: 13,041,102 (GRCm39)	E109V	probably damaging	Het
Or8c17	T	C	9: 38,180,421 (GRCm39)	V204A	possibly damaging	Het
Pcdhb4	A	G	18: 37,441,764 (GRCm39)	N358S	probably damaging	Het
Plch1	T	C	3: 63,609,974 (GRCm39)		probably benign	Het
Popdc3	T	C	10: 45,191,354 (GRCm39)	L155P	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rbm26	A	T	14: 105,414,218 (GRCm39)	I24N	unknown	Het
Rc3h2	T	A	2: 37,295,386 (GRCm39)	D210V	probably damaging	Het
Samd1	CGAGGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGA	8: 84,725,625 (GRCm39)		probably benign	Het
Spopl	T	C	2: 23,427,533 (GRCm39)	T200A	probably benign	Het
Tarbp1	A	G	8: 127,165,540 (GRCm39)		probably null	Het
Thnsl1	T	A	2: 21,218,173 (GRCm39)	H121Q	probably damaging	Het
Tll1	T	C	8: 64,554,984 (GRCm39)	D233G	probably damaging	Het
Vmn2r27	A	T	6: 124,200,661 (GRCm39)	V432E	possibly damaging	Het
Wdr5	T	C	2: 27,409,424 (GRCm39)	S49P	probably damaging	Het
Zfyve26	A	T	12: 79,342,308 (GRCm39)	I46N	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
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
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

PCR Primer
(F):5'- CCCAAAGTCCTTTCACCTacacacat -3'
(R):5'- GGAGAAGACCCACTACCAGGCA -3'

Sequencing Primer
(F):5'- accaaccaaaccaagaaacaag -3'
(R):5'- CCCAGGTTCTTAGGCGATGAAG -3'

Posted On

2013-09-30