Mutagenetix > Incidental Mutation

Incidental Mutation 'R7622:Cdc42bpb'

589213

Institutional Source

Beutler Lab

Gene Symbol

Cdc42bpb

Ensembl Gene

ENSMUSG00000021279

Gene Name

CDC42 binding protein kinase beta

Synonyms

DMPK-like

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.649) question?

Stock #

R7622 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111292976-111377718 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 111294772 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 201 (E201A)

Ref Sequence

ENSEMBL: ENSMUSP00000152591 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041965] [ENSMUST00000220657]

AlphaFold

Q7TT50

Predicted Effect

probably benign
Transcript: ENSMUST00000041965

SMART Domains

Protein: ENSMUSP00000042565
Gene: ENSMUSG00000021279

Domain	Start	End	E-Value	Type
S_TKc	76	342	1e-87	SMART
S_TK_X	343	405	5.02e-10	SMART
Pfam:KELK	527	606	4.5e-32	PFAM
low complexity region	628	640	N/A	INTRINSIC
coiled coil region	727	815	N/A	INTRINSIC
low complexity region	843	859	N/A	INTRINSIC
Pfam:DMPK_coil	878	939	1.2e-29	PFAM
C1	1027	1076	1.43e-11	SMART
PH	1097	1217	1.19e-6	SMART
CNH	1240	1521	1.32e-10	SMART
low complexity region	1564	1576	N/A	INTRINSIC
PBD	1585	1620	7.16e-10	SMART
low complexity region	1681	1696	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000220657
AA Change: E201A

Predicted Effect

probably benign
Transcript: ENSMUST00000222724

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (55/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine/threonine protein kinase family. The encoded protein contains a Cdc42/Rac-binding p21 binding domain resembling that of PAK kinase. The kinase domain of this protein is most closely related to that of myotonic dystrophy kinase-related ROK. Studies of the similar gene in rat suggested that this kinase may act as a downstream effector of Cdc42 in cytoskeletal reorganization. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	A	3: 36,948,413	C1502*	probably null	Het
Adgrd1	G	A	5: 129,139,624	D384N	probably benign	Het
Aqp8	T	C	7: 123,466,660	F226S	possibly damaging	Het
Arl6ip6	A	G	2: 53,217,327	Y207C	probably damaging	Het
Cbfa2t2	A	G	2: 154,500,445	E27G	possibly damaging	Het
Cfap54	A	C	10: 92,956,944	V1769G	unknown	Het
Dmxl2	C	T	9: 54,472,218	G7S	probably damaging	Het
Dnah6	G	T	6: 73,124,759	F1927L	possibly damaging	Het
Dnajc6	A	G	4: 101,640,491	E942G	probably damaging	Het
Fam170a	A	G	18: 50,282,902	R324G	probably benign	Het
Gapdhs	G	A	7: 30,739,331	T9I	unknown	Het
Gm10320	T	A	13: 98,489,724	R51*	probably null	Het
Gm19410	A	T	8: 35,810,347	T1776S	possibly damaging	Het
Gm4846	A	T	1: 166,495,872	M94K	possibly damaging	Het
Ighv2-5	G	A	12: 113,685,738	Q32*	probably null	Het
Klc2	T	C	19: 5,111,632	E310G	probably damaging	Het
Krt75	A	G	15: 101,570,272	M309T	probably damaging	Het
Lrp11	G	A	10: 7,590,172	G41R	unknown	Het
Lrrc52	G	T	1: 167,466,095	P207Q	probably benign	Het
Lrrc52	G	T	1: 167,466,096	P207T	probably benign	Het
Lrrk2	A	T	15: 91,812,323	D2438V	probably damaging	Het
Mycbp	C	T	4: 123,905,301	T28M	probably damaging	Het
Myh14	A	G	7: 44,632,422	V804A	probably benign	Het
Myo16	A	G	8: 10,376,238	I332V	unknown	Het
Ncor1	G	T	11: 62,317,968	Q1359K	probably benign	Het
Olfr1055	A	G	2: 86,347,662	Y35H	possibly damaging	Het
Olfr1112	A	T	2: 87,192,250	I188L	probably benign	Het
Olfr50	A	G	2: 36,793,931	K232E	probably benign	Het
Olfr548-ps1	A	G	7: 102,542,623	H229R	probably benign	Het
Oog3	T	C	4: 144,158,319	D349G	probably benign	Het
Pate4	A	G	9: 35,608,299	S32P	possibly damaging	Het
Pcdhb7	A	C	18: 37,342,461	S217R	probably benign	Het
Pde1c	G	A	6: 56,126,925	R580C	probably damaging	Het
Pi4ka	C	A	16: 17,293,977	A1545S		Het
Pign	G	T	1: 105,648,117	T266K	possibly damaging	Het
Pitpnm2	A	G	5: 124,122,027	I1134T	probably benign	Het
Ppfia2	G	A	10: 106,830,659	V409I	possibly damaging	Het
Prr7	A	G	13: 55,472,796	T206A	probably benign	Het
Rnf13	A	T	3: 57,820,534	R212*	probably null	Het
Rwdd2b	T	C	16: 87,434,612	N218S	probably benign	Het
Serpina3m	A	G	12: 104,389,575	D167G	possibly damaging	Het
Slit2	A	T	5: 47,985,205	N56Y	probably damaging	Het
Sprr3	G	T	3: 92,457,285	T84K	probably damaging	Het
Stab2	A	T	10: 86,873,902	H1626Q	possibly damaging	Het
Tex2	C	A	11: 106,546,895	D650Y	unknown	Het
Tmprss6	A	G	15: 78,446,726	S436P	probably benign	Het
Uba2	A	C	7: 34,165,435	F63L	probably damaging	Het
Ubxn2b	C	T	4: 6,214,692	S242L	probably damaging	Het
Vmn1r86	T	G	7: 13,102,758	I64L	probably benign	Het
Vmn2r67	A	T	7: 85,136,454	V781E	probably damaging	Het
Vmn2r80	T	A	10: 79,194,263	F641Y	probably damaging	Het
Wdfy4	A	T	14: 33,078,274	I1965K		Het
Wdr25	G	A	12: 108,992,893	G344S	possibly damaging	Het
Wdr90	G	T	17: 25,854,109	F837L	probably benign	Het
Xpo4	A	G	14: 57,597,011	V704A	possibly damaging	Het
Zc3h12d	A	G	10: 7,867,269	K268E	probably damaging	Het

Other mutations in Cdc42bpb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01335:Cdc42bpb	APN	12	111294096	unclassified	probably benign
IGL01360:Cdc42bpb	APN	12	111342075	missense	probably damaging	1.00
IGL01577:Cdc42bpb	APN	12	111302043	missense	possibly damaging	0.71
IGL01909:Cdc42bpb	APN	12	111323142	missense	probably benign
IGL01924:Cdc42bpb	APN	12	111317453	unclassified	probably benign
IGL02428:Cdc42bpb	APN	12	111323127	missense	probably benign
IGL02678:Cdc42bpb	APN	12	111326096	missense	probably damaging	1.00
IGL02792:Cdc42bpb	APN	12	111299561	missense	probably benign
IGL03367:Cdc42bpb	APN	12	111336159	missense	probably damaging	1.00
F5770:Cdc42bpb	UTSW	12	111296391	missense	probably benign	0.28
PIT4585001:Cdc42bpb	UTSW	12	111304978	missense	probably damaging	1.00
R0129:Cdc42bpb	UTSW	12	111304959	intron	probably benign
R0633:Cdc42bpb	UTSW	12	111345555	missense	probably damaging	0.99
R1054:Cdc42bpb	UTSW	12	111313353	missense	probably benign	0.00
R1335:Cdc42bpb	UTSW	12	111296441	missense	probably damaging	1.00
R1459:Cdc42bpb	UTSW	12	111296300	unclassified	probably benign
R1780:Cdc42bpb	UTSW	12	111322907	missense	probably damaging	1.00
R1823:Cdc42bpb	UTSW	12	111327559	missense	probably damaging	1.00
R1843:Cdc42bpb	UTSW	12	111322821	missense	probably benign
R1902:Cdc42bpb	UTSW	12	111326016	missense	probably damaging	1.00
R1945:Cdc42bpb	UTSW	12	111299133	missense	probably damaging	1.00
R2077:Cdc42bpb	UTSW	12	111299196	missense	probably damaging	1.00
R2184:Cdc42bpb	UTSW	12	111296044	missense	probably damaging	0.99
R2208:Cdc42bpb	UTSW	12	111336029	missense	probably damaging	1.00
R2211:Cdc42bpb	UTSW	12	111301854	missense	probably benign	0.11
R2273:Cdc42bpb	UTSW	12	111302167	missense	probably damaging	1.00
R2406:Cdc42bpb	UTSW	12	111302124	missense	probably benign	0.00
R3080:Cdc42bpb	UTSW	12	111295818	missense	probably damaging	0.99
R3612:Cdc42bpb	UTSW	12	111303822	intron	probably benign
R4106:Cdc42bpb	UTSW	12	111295145	missense	probably benign	0.01
R4133:Cdc42bpb	UTSW	12	111321542	missense	probably benign	0.00
R4156:Cdc42bpb	UTSW	12	111294139	missense	probably benign	0.17
R4202:Cdc42bpb	UTSW	12	111294139	missense	probably benign	0.17
R4573:Cdc42bpb	UTSW	12	111323141	missense	probably benign	0.00
R4659:Cdc42bpb	UTSW	12	111339891	missense	probably damaging	1.00
R5101:Cdc42bpb	UTSW	12	111299115	missense	probably damaging	1.00
R5591:Cdc42bpb	UTSW	12	111323087	missense	probably benign	0.01
R5669:Cdc42bpb	UTSW	12	111302013	critical splice donor site	probably null
R5830:Cdc42bpb	UTSW	12	111345582	nonsense	probably null
R5872:Cdc42bpb	UTSW	12	111325976	missense	probably damaging	1.00
R6748:Cdc42bpb	UTSW	12	111294839	unclassified	probably benign
R6813:Cdc42bpb	UTSW	12	111327615	missense	probably damaging	1.00
R7024:Cdc42bpb	UTSW	12	111326085	missense	probably damaging	1.00
R7165:Cdc42bpb	UTSW	12	111321517	missense	probably damaging	1.00
R7228:Cdc42bpb	UTSW	12	111305093	missense	possibly damaging	0.92
R7258:Cdc42bpb	UTSW	12	111326084	missense	probably damaging	1.00
R7352:Cdc42bpb	UTSW	12	111299311	missense	probably damaging	1.00
R7361:Cdc42bpb	UTSW	12	111345605	missense	probably damaging	1.00
R7399:Cdc42bpb	UTSW	12	111305667	missense	probably benign	0.00
R7468:Cdc42bpb	UTSW	12	111339873	missense	probably damaging	1.00
R7648:Cdc42bpb	UTSW	12	111377153	missense	probably damaging	1.00
R7734:Cdc42bpb	UTSW	12	111329230	missense	probably damaging	1.00
R7783:Cdc42bpb	UTSW	12	111336025	critical splice donor site	probably null
R8738:Cdc42bpb	UTSW	12	111307787	missense	probably benign	0.42
R9111:Cdc42bpb	UTSW	12	111318469	missense	probably benign
R9168:Cdc42bpb	UTSW	12	111320083	missense	possibly damaging	0.65
R9506:Cdc42bpb	UTSW	12	111294938	missense	probably benign	0.00
R9510:Cdc42bpb	UTSW	12	111294938	missense	probably benign	0.00
R9511:Cdc42bpb	UTSW	12	111294938	missense	probably benign	0.00
R9542:Cdc42bpb	UTSW	12	111302074	nonsense	probably null
R9563:Cdc42bpb	UTSW	12	111299328	missense	possibly damaging	0.80
R9758:Cdc42bpb	UTSW	12	111299349	missense	possibly damaging	0.65
V7582:Cdc42bpb	UTSW	12	111296391	missense	probably benign	0.28
V7583:Cdc42bpb	UTSW	12	111296391	missense	probably benign	0.28
X0023:Cdc42bpb	UTSW	12	111326078	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTGGCTCAACTCTAAGGG -3'
(R):5'- CAAAGGTGTCCTTGTCTGTAGG -3'

Sequencing Primer
(F):5'- TGGCTCAACTCTAAGGGAAATC -3'
(R):5'- AGCCTGGAGTGCCTGTG -3'

Posted On

2019-10-24