Mutagenetix > Incidental Mutation

Incidental Mutation 'R4202:Cdc42bpb'

318804

Institutional Source

Beutler Lab

Gene Symbol

Cdc42bpb

Ensembl Gene

ENSMUSG00000021279

Gene Name

CDC42 binding protein kinase beta

Synonyms

DMPK-like

MMRRC Submission

041032-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.627) question?

Stock #

R4202 (G1)

Quality Score

198

Status

Validated

Chromosome

Chromosomal Location

111259410-111344152 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 111260573 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1702 (P1702S)

Ref Sequence

ENSEMBL: ENSMUSP00000042565 (fasta)

Gene Model

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

AlphaFold

Q7TT50

Predicted Effect

probably benign
Transcript: ENSMUST00000041965
AA Change: P1702S

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000042565
Gene: ENSMUSG00000021279
AA Change: P1702S

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

noncoding transcript
Transcript: ENSMUST00000181055

Predicted Effect

probably benign
Transcript: ENSMUST00000220657

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221897

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222483

Meta Mutation Damage Score

0.0580

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

92% (33/36)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adsl	C	T	15: 80,836,417 (GRCm39)	T58I	probably damaging	Het
Ano7	A	G	1: 93,308,200 (GRCm39)	D77G	probably benign	Het
Ap2b1	T	A	11: 83,226,430 (GRCm39)		probably null	Het
Bclaf3	T	A	X: 158,336,829 (GRCm39)	S419T	probably damaging	Het
Bysl	A	G	17: 47,915,251 (GRCm39)	S166P	probably benign	Het
Cd101	A	C	3: 100,926,001 (GRCm39)	D239E	probably damaging	Het
Cfap65	G	T	1: 74,959,701 (GRCm39)	F816L	probably damaging	Het
Cnot6	T	C	11: 49,593,463 (GRCm39)	Y6C	probably damaging	Het
Csrp1	T	G	1: 135,673,065 (GRCm39)	C61G	probably damaging	Het
Gmeb2	A	G	2: 180,895,766 (GRCm39)	V468A	possibly damaging	Het
Gucy2g	A	G	19: 55,218,201 (GRCm39)	S416P	possibly damaging	Het
Hormad1	G	A	3: 95,492,509 (GRCm39)	R362H	probably benign	Het
Lancl2	T	A	6: 57,689,977 (GRCm39)	V61D	probably benign	Het
Lta4h	A	G	10: 93,306,669 (GRCm39)	D287G	probably damaging	Het
Maml1	A	T	11: 50,148,740 (GRCm39)	L1000Q	probably damaging	Het
Or6c206	T	C	10: 129,097,646 (GRCm39)	V272A	probably benign	Het
Or7a42	T	C	10: 78,791,129 (GRCm39)	V30A	probably benign	Het
Osbpl9	G	T	4: 109,029,437 (GRCm39)		probably benign	Het
Oser1	T	C	2: 163,253,375 (GRCm39)	T45A	probably benign	Het
Pip4p1	A	G	14: 51,168,112 (GRCm39)	S41P	probably damaging	Het
Ppfibp1	C	A	6: 146,931,079 (GRCm39)	S878R	probably damaging	Het
Prss43	T	A	9: 110,656,529 (GRCm39)	V72D	probably benign	Het
Sdhb	T	A	4: 140,706,379 (GRCm39)	M272K	possibly damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Stx17	T	A	4: 48,158,870 (GRCm39)	D83E	probably damaging	Het
Tas2r138	T	C	6: 40,589,410 (GRCm39)	M279V	possibly damaging	Het
Tsku	C	T	7: 98,002,205 (GRCm39)	R42H	probably damaging	Het
Tyr	A	G	7: 87,078,276 (GRCm39)	L528P	possibly damaging	Het
Vmn2r87	T	C	10: 130,308,448 (GRCm39)	I597V	probably benign	Het
Wnt5b	T	C	6: 119,417,272 (GRCm39)	N198D	probably damaging	Het

Other mutations in Cdc42bpb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01335:Cdc42bpb	APN	12	111,260,530 (GRCm39)	unclassified	probably benign
IGL01360:Cdc42bpb	APN	12	111,308,509 (GRCm39)	missense	probably damaging	1.00
IGL01577:Cdc42bpb	APN	12	111,268,477 (GRCm39)	missense	possibly damaging	0.71
IGL01909:Cdc42bpb	APN	12	111,289,576 (GRCm39)	missense	probably benign
IGL01924:Cdc42bpb	APN	12	111,283,887 (GRCm39)	unclassified	probably benign
IGL02428:Cdc42bpb	APN	12	111,289,561 (GRCm39)	missense	probably benign
IGL02678:Cdc42bpb	APN	12	111,292,530 (GRCm39)	missense	probably damaging	1.00
IGL02792:Cdc42bpb	APN	12	111,265,995 (GRCm39)	missense	probably benign
IGL03367:Cdc42bpb	APN	12	111,302,593 (GRCm39)	missense	probably damaging	1.00
F5770:Cdc42bpb	UTSW	12	111,262,825 (GRCm39)	missense	probably benign	0.28
PIT4585001:Cdc42bpb	UTSW	12	111,271,412 (GRCm39)	missense	probably damaging	1.00
R0129:Cdc42bpb	UTSW	12	111,271,393 (GRCm39)	intron	probably benign
R0633:Cdc42bpb	UTSW	12	111,311,989 (GRCm39)	missense	probably damaging	0.99
R1054:Cdc42bpb	UTSW	12	111,279,787 (GRCm39)	missense	probably benign	0.00
R1335:Cdc42bpb	UTSW	12	111,262,875 (GRCm39)	missense	probably damaging	1.00
R1459:Cdc42bpb	UTSW	12	111,262,734 (GRCm39)	unclassified	probably benign
R1780:Cdc42bpb	UTSW	12	111,289,341 (GRCm39)	missense	probably damaging	1.00
R1823:Cdc42bpb	UTSW	12	111,293,993 (GRCm39)	missense	probably damaging	1.00
R1843:Cdc42bpb	UTSW	12	111,289,255 (GRCm39)	missense	probably benign
R1902:Cdc42bpb	UTSW	12	111,292,450 (GRCm39)	missense	probably damaging	1.00
R1945:Cdc42bpb	UTSW	12	111,265,567 (GRCm39)	missense	probably damaging	1.00
R2077:Cdc42bpb	UTSW	12	111,265,630 (GRCm39)	missense	probably damaging	1.00
R2184:Cdc42bpb	UTSW	12	111,262,478 (GRCm39)	missense	probably damaging	0.99
R2208:Cdc42bpb	UTSW	12	111,302,463 (GRCm39)	missense	probably damaging	1.00
R2211:Cdc42bpb	UTSW	12	111,268,288 (GRCm39)	missense	probably benign	0.11
R2273:Cdc42bpb	UTSW	12	111,268,601 (GRCm39)	missense	probably damaging	1.00
R2406:Cdc42bpb	UTSW	12	111,268,558 (GRCm39)	missense	probably benign	0.00
R3080:Cdc42bpb	UTSW	12	111,262,252 (GRCm39)	missense	probably damaging	0.99
R3612:Cdc42bpb	UTSW	12	111,270,256 (GRCm39)	intron	probably benign
R4106:Cdc42bpb	UTSW	12	111,261,579 (GRCm39)	missense	probably benign	0.01
R4133:Cdc42bpb	UTSW	12	111,287,976 (GRCm39)	missense	probably benign	0.00
R4156:Cdc42bpb	UTSW	12	111,260,573 (GRCm39)	missense	probably benign	0.17
R4573:Cdc42bpb	UTSW	12	111,289,575 (GRCm39)	missense	probably benign	0.00
R4659:Cdc42bpb	UTSW	12	111,306,325 (GRCm39)	missense	probably damaging	1.00
R5101:Cdc42bpb	UTSW	12	111,265,549 (GRCm39)	missense	probably damaging	1.00
R5591:Cdc42bpb	UTSW	12	111,289,521 (GRCm39)	missense	probably benign	0.01
R5669:Cdc42bpb	UTSW	12	111,268,447 (GRCm39)	critical splice donor site	probably null
R5830:Cdc42bpb	UTSW	12	111,312,016 (GRCm39)	nonsense	probably null
R5872:Cdc42bpb	UTSW	12	111,292,410 (GRCm39)	missense	probably damaging	1.00
R6748:Cdc42bpb	UTSW	12	111,261,273 (GRCm39)	unclassified	probably benign
R6813:Cdc42bpb	UTSW	12	111,294,049 (GRCm39)	missense	probably damaging	1.00
R7024:Cdc42bpb	UTSW	12	111,292,519 (GRCm39)	missense	probably damaging	1.00
R7165:Cdc42bpb	UTSW	12	111,287,951 (GRCm39)	missense	probably damaging	1.00
R7228:Cdc42bpb	UTSW	12	111,271,527 (GRCm39)	missense	possibly damaging	0.92
R7258:Cdc42bpb	UTSW	12	111,292,518 (GRCm39)	missense	probably damaging	1.00
R7352:Cdc42bpb	UTSW	12	111,265,745 (GRCm39)	missense	probably damaging	1.00
R7361:Cdc42bpb	UTSW	12	111,312,039 (GRCm39)	missense	probably damaging	1.00
R7399:Cdc42bpb	UTSW	12	111,272,101 (GRCm39)	missense	probably benign	0.00
R7468:Cdc42bpb	UTSW	12	111,306,307 (GRCm39)	missense	probably damaging	1.00
R7622:Cdc42bpb	UTSW	12	111,261,206 (GRCm39)	missense	unknown
R7648:Cdc42bpb	UTSW	12	111,343,587 (GRCm39)	missense	probably damaging	1.00
R7734:Cdc42bpb	UTSW	12	111,295,664 (GRCm39)	missense	probably damaging	1.00
R7783:Cdc42bpb	UTSW	12	111,302,459 (GRCm39)	critical splice donor site	probably null
R8738:Cdc42bpb	UTSW	12	111,274,221 (GRCm39)	missense	probably benign	0.42
R9111:Cdc42bpb	UTSW	12	111,284,903 (GRCm39)	missense	probably benign
R9168:Cdc42bpb	UTSW	12	111,286,517 (GRCm39)	missense	possibly damaging	0.65
R9506:Cdc42bpb	UTSW	12	111,261,372 (GRCm39)	missense	probably benign	0.00
R9510:Cdc42bpb	UTSW	12	111,261,372 (GRCm39)	missense	probably benign	0.00
R9511:Cdc42bpb	UTSW	12	111,261,372 (GRCm39)	missense	probably benign	0.00
R9542:Cdc42bpb	UTSW	12	111,268,508 (GRCm39)	nonsense	probably null
R9563:Cdc42bpb	UTSW	12	111,265,762 (GRCm39)	missense	possibly damaging	0.80
R9758:Cdc42bpb	UTSW	12	111,265,783 (GRCm39)	missense	possibly damaging	0.65
V7582:Cdc42bpb	UTSW	12	111,262,825 (GRCm39)	missense	probably benign	0.28
V7583:Cdc42bpb	UTSW	12	111,262,825 (GRCm39)	missense	probably benign	0.28
X0023:Cdc42bpb	UTSW	12	111,292,512 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGATCGCCACCAACAATGTG -3'
(R):5'- ACCTAAAAGGGCCTTGCAG -3'

Sequencing Primer
(F):5'- CAATGTGGCACAAAACTGGTC -3'
(R):5'- CCTTGCAGAGGCTGTGTACAG -3'

Posted On

2015-06-10