Mutagenetix > Incidental Mutation

Incidental Mutation 'R7504:Cdc42bpg'

581695

Institutional Source

Beutler Lab

Gene Symbol

Cdc42bpg

Ensembl Gene

ENSMUSG00000024769

Gene Name

CDC42 binding protein kinase gamma

Synonyms

MRCKgamma

MMRRC Submission

045577-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.323) question?

Stock #

R7504 (G1)

Quality Score

155.008

Status

Validated

Chromosome

Chromosomal Location

6356486-6375682 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 6356814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 23 (D23E)

Ref Sequence

ENSEMBL: ENSMUSP00000025681 (fasta)

Gene Model

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

AlphaFold

Q80UW5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025681
AA Change: D23E

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025681
Gene: ENSMUSG00000024769
AA Change: D23E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	C	G	17: 15,163,915 (GRCm39)	A14G	probably damaging	Het
Btn1a1	A	T	13: 23,645,886 (GRCm39)	M161K	probably benign	Het
Camkk2	G	A	5: 122,884,371 (GRCm39)	T350I	probably damaging	Het
Cdkn1a	T	C	17: 29,317,488 (GRCm39)	L36P	probably damaging	Het
Dek	A	G	13: 47,241,511 (GRCm39)	I351T	probably damaging	Het
Dst	T	C	1: 34,240,098 (GRCm39)	Y1816H	probably damaging	Het
Efl1	T	A	7: 82,332,257 (GRCm39)	N300K	probably damaging	Het
Ephx2	A	G	14: 66,339,066 (GRCm39)	Y294H	probably damaging	Het
Fancd2	T	A	6: 113,521,999 (GRCm39)	I198N	probably damaging	Het
Grid1	G	T	14: 35,284,470 (GRCm39)	A738S	probably damaging	Het
Gsx2	G	A	5: 75,237,060 (GRCm39)		probably null	Het
Hc	G	A	2: 34,951,331 (GRCm39)	T22I	not run	Het
Hps1	T	C	19: 42,755,159 (GRCm39)	D261G	probably benign	Het
Ift80	T	C	3: 68,825,338 (GRCm39)	Y539C	probably damaging	Het
Insc	G	T	7: 114,390,533 (GRCm39)		probably null	Het
Isg15	T	C	4: 156,284,502 (GRCm39)	M9V	probably damaging	Het
Kalrn	A	G	16: 34,076,603 (GRCm39)	L695P	unknown	Het
Nars1	A	C	18: 64,645,093 (GRCm39)	F52V	probably benign	Het
Nmt1	T	G	11: 102,947,285 (GRCm39)	F225V	probably damaging	Het
Or10q12	T	A	19: 13,746,096 (GRCm39)	I130N	probably damaging	Het
Or7a36	A	G	10: 78,820,494 (GRCm39)	Y290C	possibly damaging	Het
Or8c8	A	T	9: 38,165,539 (GRCm39)	K272N	possibly damaging	Het
Pbx3	T	C	2: 34,065,936 (GRCm39)	T385A	probably damaging	Het
Pcdhb11	A	T	18: 37,554,852 (GRCm39)	T61S	probably benign	Het
Pramel40	G	T	5: 94,464,906 (GRCm39)	V431L	probably benign	Het
Rab11fip1	T	C	8: 27,642,981 (GRCm39)	E606G	possibly damaging	Het
Rnf216	A	G	5: 143,061,514 (GRCm39)	Y589H	probably benign	Het
Scara3	A	G	14: 66,168,780 (GRCm39)	I279T	possibly damaging	Het
Sdk2	T	A	11: 113,758,793 (GRCm39)	Y477F	possibly damaging	Het
Secisbp2l	T	C	2: 125,600,091 (GRCm39)	K415E	probably benign	Het
Stag1	C	T	9: 100,770,381 (GRCm39)	T639I	probably benign	Het
Sv2b	A	T	7: 74,786,131 (GRCm39)	F430I	probably benign	Het
Tenm2	C	T	11: 36,030,570 (GRCm39)	C743Y	probably damaging	Het
Tet2	C	A	3: 133,193,100 (GRCm39)	V445L	probably benign	Het
Tmem132c	T	C	5: 127,631,696 (GRCm39)	S652P	probably damaging	Het
Togaram1	A	G	12: 65,039,391 (GRCm39)	D1155G	possibly damaging	Het
Traip	T	C	9: 107,838,743 (GRCm39)	I169T	probably benign	Het
Trmt9b	A	C	8: 36,979,309 (GRCm39)	N304T	probably benign	Het
Usp45	T	G	4: 21,816,892 (GRCm39)	M374R	possibly damaging	Het
Vmn2r81	A	T	10: 79,104,166 (GRCm39)	H263L	probably benign	Het
Wdr95	T	C	5: 149,505,311 (GRCm39)	V364A	probably damaging	Het
Zfp128	G	A	7: 12,624,405 (GRCm39)	D258N	probably damaging	Het
Zfp335	G	A	2: 164,751,338 (GRCm39)	T76I	probably benign	Het
Zfp688	C	A	7: 127,018,483 (GRCm39)	C214F	probably damaging	Het
Zfp760	T	C	17: 21,941,655 (GRCm39)	S277P	probably damaging	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
R5703:Cdc42bpg	UTSW	19	6,372,703 (GRCm39)	missense	possibly damaging	0.87
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
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'- AGTTACTTTTCGTGGCCCGC -3'
(R):5'- AATATGCCACTCCCGGGAAAAG -3'

Sequencing Primer
(F):5'- TCCCACTTCCTGGACGAG -3'
(R):5'- ACTCCCGGGAAAAGGTCTG -3'

Posted On

2019-10-17