Mutagenetix > Incidental Mutation

Incidental Mutation 'R5703:Cdc42bpg'

451814

Institutional Source

Beutler Lab

Gene Symbol

Cdc42bpg

Ensembl Gene

ENSMUSG00000024769

Gene Name

CDC42 binding protein kinase gamma

Synonyms

MRCKgamma

MMRRC Submission

043183-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.348) question?

Stock #

R5703 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6356486-6375682 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6372703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1502 (D1502G)

Ref Sequence

ENSEMBL: ENSMUSP00000025681 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025681]

AlphaFold

Q80UW5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025681
AA Change: D1502G

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025681
Gene: ENSMUSG00000024769
AA Change: D1502G

Domain	Start	End	E-Value	Type
low complexity region	21	31	N/A	INTRINSIC
S_TKc	71	337	1.63e-87	SMART
S_TK_X	338	400	7.85e-12	SMART
coiled coil region	444	551	N/A	INTRINSIC
coiled coil region	630	675	N/A	INTRINSIC
Pfam:DMPK_coil	743	801	4.6e-21	PFAM
low complexity region	861	873	N/A	INTRINSIC
C1	878	926	1.78e-7	SMART
PH	947	1067	3.57e-10	SMART
Pfam:CNH	1096	1362	7.5e-56	PFAM
low complexity region	1401	1412	N/A	INTRINSIC
low complexity region	1535	1551	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141854

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	A	1: 25,459,640 (GRCm39)	N605I	probably damaging	Het
Btd	C	T	14: 31,389,004 (GRCm39)	R242*	probably null	Het
Chst2	A	G	9: 95,286,985 (GRCm39)	F454L	probably damaging	Het
Col16a1	G	A	4: 129,947,092 (GRCm39)	A146T	probably damaging	Het
Cyp3a11	A	T	5: 145,797,183 (GRCm39)	S399T	probably benign	Het
Dspp	C	T	5: 104,324,917 (GRCm39)	H427Y	possibly damaging	Het
Dtx4	A	T	19: 12,459,574 (GRCm39)	M410K	possibly damaging	Het
Ecpas	A	T	4: 58,877,171 (GRCm39)		probably null	Het
Epb41l2	C	T	10: 25,317,665 (GRCm39)	R61W	probably damaging	Het
Gbp6	T	C	5: 105,421,147 (GRCm39)	K553E	probably benign	Het
Git1	CCG	C	11: 77,395,494 (GRCm39)		probably null	Het
Gm13199	C	T	2: 5,867,259 (GRCm39)		probably benign	Het
Gramd2a	G	A	9: 59,615,299 (GRCm39)	G13R	probably benign	Het
Hoxa2	G	T	6: 52,140,243 (GRCm39)	Q248K	probably damaging	Het
Hycc1	A	T	5: 24,185,577 (GRCm39)		probably null	Het
Krt33b	T	C	11: 99,916,374 (GRCm39)	T228A	probably benign	Het
Loxhd1	A	G	18: 77,444,573 (GRCm39)	E324G	probably damaging	Het
Map3k20	A	G	2: 72,232,514 (GRCm39)	N390S	probably benign	Het
Mroh7	A	G	4: 106,565,757 (GRCm39)	Y126H	possibly damaging	Het
Muc4	G	A	16: 32,555,059 (GRCm39)	W15*	probably null	Het
Ndrg2	T	A	14: 52,147,579 (GRCm39)		probably null	Het
Ntsr1	T	C	2: 180,142,226 (GRCm39)	S6P	probably damaging	Het
Or5m10	T	C	2: 85,717,783 (GRCm39)	I213T	probably benign	Het
Or5p70	G	A	7: 107,994,707 (GRCm39)	V127I	probably benign	Het
Pcdhb6	A	T	18: 37,467,753 (GRCm39)	T225S	probably benign	Het
Rfng	C	A	11: 120,672,842 (GRCm39)	V294L	probably benign	Het
Scml4	C	T	10: 42,741,566 (GRCm39)		probably benign	Het
Slc5a2	A	G	7: 127,869,787 (GRCm39)	I407V	possibly damaging	Het
Strc	T	C	2: 121,201,295 (GRCm39)	T1267A	probably benign	Het
Tanc1	T	C	2: 59,626,341 (GRCm39)	V566A	probably damaging	Het
Tas1r2	T	C	4: 139,394,647 (GRCm39)	S468P	probably damaging	Het
Tenm2	T	A	11: 35,914,626 (GRCm39)	T2304S	probably benign	Het
Tirap	A	T	9: 35,100,054 (GRCm39)	L210Q	probably damaging	Het
Vav3	A	T	3: 109,248,557 (GRCm39)	Q68L	probably benign	Het
Vmn2r54	C	T	7: 12,363,594 (GRCm39)	S433N	probably benign	Het
Wars1	A	T	12: 108,841,047 (GRCm39)	Y244N	probably damaging	Het
Zc3h6	A	G	2: 128,835,372 (GRCm39)		probably benign	Het

Other mutations in Cdc42bpg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01149:Cdc42bpg	APN	19	6,362,235 (GRCm39)	splice site	probably benign
IGL01415:Cdc42bpg	APN	19	6,360,881 (GRCm39)	missense	probably damaging	1.00
IGL01517:Cdc42bpg	APN	19	6,368,467 (GRCm39)	missense	probably damaging	1.00
IGL01585:Cdc42bpg	APN	19	6,370,462 (GRCm39)	missense	possibly damaging	0.93
IGL01743:Cdc42bpg	APN	19	6,359,853 (GRCm39)	critical splice donor site	probably null
IGL01930:Cdc42bpg	APN	19	6,361,398 (GRCm39)	missense	probably damaging	1.00
IGL02092:Cdc42bpg	APN	19	6,366,856 (GRCm39)	splice site	probably benign
IGL02355:Cdc42bpg	APN	19	6,360,839 (GRCm39)	missense	possibly damaging	0.93
IGL02362:Cdc42bpg	APN	19	6,360,839 (GRCm39)	missense	possibly damaging	0.93
IGL02498:Cdc42bpg	APN	19	6,372,823 (GRCm39)	missense	probably benign
IGL03004:Cdc42bpg	APN	19	6,361,413 (GRCm39)	missense	probably benign	0.38
IGL03037:Cdc42bpg	APN	19	6,361,230 (GRCm39)	missense	probably damaging	1.00
PIT1430001:Cdc42bpg	UTSW	19	6,372,582 (GRCm39)	splice site	probably null
R0304:Cdc42bpg	UTSW	19	6,367,278 (GRCm39)	missense	probably damaging	0.99
R0367:Cdc42bpg	UTSW	19	6,361,425 (GRCm39)	missense	probably damaging	1.00
R0412:Cdc42bpg	UTSW	19	6,363,487 (GRCm39)	missense	probably damaging	1.00
R0742:Cdc42bpg	UTSW	19	6,368,605 (GRCm39)	critical splice donor site	probably null
R1026:Cdc42bpg	UTSW	19	6,367,217 (GRCm39)	missense	probably damaging	1.00
R1056:Cdc42bpg	UTSW	19	6,364,051 (GRCm39)	missense	probably benign	0.10
R1065:Cdc42bpg	UTSW	19	6,372,856 (GRCm39)	missense	probably damaging	1.00
R1476:Cdc42bpg	UTSW	19	6,363,812 (GRCm39)	missense	probably damaging	0.99
R1854:Cdc42bpg	UTSW	19	6,370,837 (GRCm39)	missense	possibly damaging	0.67
R1936:Cdc42bpg	UTSW	19	6,360,339 (GRCm39)	missense	probably damaging	1.00
R1962:Cdc42bpg	UTSW	19	6,356,885 (GRCm39)	missense	probably damaging	1.00
R2070:Cdc42bpg	UTSW	19	6,370,518 (GRCm39)	missense	probably damaging	1.00
R2167:Cdc42bpg	UTSW	19	6,367,707 (GRCm39)	missense	probably damaging	1.00
R3826:Cdc42bpg	UTSW	19	6,367,675 (GRCm39)	missense	probably damaging	0.99
R3829:Cdc42bpg	UTSW	19	6,367,675 (GRCm39)	missense	probably damaging	0.99
R4190:Cdc42bpg	UTSW	19	6,371,711 (GRCm39)	missense	probably damaging	1.00
R4249:Cdc42bpg	UTSW	19	6,365,296 (GRCm39)	missense	possibly damaging	0.65
R4499:Cdc42bpg	UTSW	19	6,370,585 (GRCm39)	missense	possibly damaging	0.69
R4731:Cdc42bpg	UTSW	19	6,361,221 (GRCm39)	missense	probably damaging	1.00
R4732:Cdc42bpg	UTSW	19	6,361,221 (GRCm39)	missense	probably damaging	1.00
R4733:Cdc42bpg	UTSW	19	6,361,221 (GRCm39)	missense	probably damaging	1.00
R4797:Cdc42bpg	UTSW	19	6,370,477 (GRCm39)	missense	probably damaging	1.00
R4831:Cdc42bpg	UTSW	19	6,361,365 (GRCm39)	missense	probably damaging	0.97
R4984:Cdc42bpg	UTSW	19	6,366,253 (GRCm39)	missense	possibly damaging	0.88
R5092:Cdc42bpg	UTSW	19	6,363,250 (GRCm39)	missense	probably benign	0.01
R5135:Cdc42bpg	UTSW	19	6,370,648 (GRCm39)	missense	probably damaging	1.00
R5183:Cdc42bpg	UTSW	19	6,371,835 (GRCm39)	intron	probably benign
R5208:Cdc42bpg	UTSW	19	6,371,750 (GRCm39)	missense	probably benign	0.01
R5240:Cdc42bpg	UTSW	19	6,365,929 (GRCm39)	missense	probably damaging	1.00
R5475:Cdc42bpg	UTSW	19	6,361,101 (GRCm39)	missense	probably damaging	0.99
R5876:Cdc42bpg	UTSW	19	6,360,845 (GRCm39)	missense	probably damaging	1.00
R6024:Cdc42bpg	UTSW	19	6,367,526 (GRCm39)	missense	probably damaging	1.00
R6266:Cdc42bpg	UTSW	19	6,361,503 (GRCm39)	missense	probably damaging	1.00
R6450:Cdc42bpg	UTSW	19	6,364,518 (GRCm39)	splice site	probably null
R6493:Cdc42bpg	UTSW	19	6,368,485 (GRCm39)	missense	probably damaging	0.96
R6983:Cdc42bpg	UTSW	19	6,371,698 (GRCm39)	missense	probably damaging	1.00
R7080:Cdc42bpg	UTSW	19	6,365,219 (GRCm39)	missense	probably damaging	0.97
R7125:Cdc42bpg	UTSW	19	6,372,321 (GRCm39)	missense	probably damaging	1.00
R7183:Cdc42bpg	UTSW	19	6,360,827 (GRCm39)	missense	probably damaging	1.00
R7317:Cdc42bpg	UTSW	19	6,364,534 (GRCm39)	missense	probably benign	0.11
R7426:Cdc42bpg	UTSW	19	6,368,428 (GRCm39)	missense	probably damaging	1.00
R7504:Cdc42bpg	UTSW	19	6,356,814 (GRCm39)	missense	possibly damaging	0.85
R7530:Cdc42bpg	UTSW	19	6,372,306 (GRCm39)	missense	probably benign	0.12
R7530:Cdc42bpg	UTSW	19	6,372,305 (GRCm39)	missense	probably benign	0.21
R7739:Cdc42bpg	UTSW	19	6,360,845 (GRCm39)	missense	probably damaging	1.00
R7903:Cdc42bpg	UTSW	19	6,363,499 (GRCm39)	missense	possibly damaging	0.94
R8186:Cdc42bpg	UTSW	19	6,356,895 (GRCm39)	missense	probably damaging	1.00
R8331:Cdc42bpg	UTSW	19	6,363,477 (GRCm39)	missense	probably benign	0.08
R8870:Cdc42bpg	UTSW	19	6,364,550 (GRCm39)	missense	possibly damaging	0.94
R9014:Cdc42bpg	UTSW	19	6,372,289 (GRCm39)	missense	possibly damaging	0.88
R9256:Cdc42bpg	UTSW	19	6,361,067 (GRCm39)	missense	probably damaging	1.00
R9263:Cdc42bpg	UTSW	19	6,372,149 (GRCm39)	missense	probably damaging	1.00
R9343:Cdc42bpg	UTSW	19	6,364,553 (GRCm39)	missense	probably damaging	1.00
R9423:Cdc42bpg	UTSW	19	6,363,329 (GRCm39)	missense	probably damaging	1.00
R9565:Cdc42bpg	UTSW	19	6,370,696 (GRCm39)	missense	probably damaging	1.00
R9667:Cdc42bpg	UTSW	19	6,370,115 (GRCm39)	missense	probably benign	0.00
Z1177:Cdc42bpg	UTSW	19	6,364,553 (GRCm39)	missense	probably damaging	1.00
Z1177:Cdc42bpg	UTSW	19	6,364,552 (GRCm39)	missense	possibly damaging	0.94
Z1177:Cdc42bpg	UTSW	19	6,359,776 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTAGCTGAGTTCCCATGGTC -3'
(R):5'- CCATTGGCTCACCTGTATCAG -3'

Sequencing Primer
(F):5'- CTGAGTTCCCATGGTCTGAGC -3'
(R):5'- CTGTATCAGGGATGCTGCAG -3'

Posted On

2017-01-03