Mutagenetix > Incidental Mutation

Incidental Mutation 'R8186:Cdc42bpg'

634891

Institutional Source

Beutler Lab

Gene Symbol

Cdc42bpg

Ensembl Gene

ENSMUSG00000024769

Gene Name

CDC42 binding protein kinase gamma

Synonyms

MRCKgamma

MMRRC Submission

067609-MU

Accession Numbers

Essential gene?

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

Stock #

R8186 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6356486-6375682 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6356895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 50 (F50L)

Ref Sequence

ENSEMBL: ENSMUSP00000025681 (fasta)

Gene Model

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

AlphaFold

Q80UW5

Predicted Effect

probably damaging
Transcript: ENSMUST00000025681
AA Change: F50L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025681
Gene: ENSMUSG00000024769
AA Change: F50L

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: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add2	G	A	6: 86,085,002 (GRCm39)	V543M	probably benign	Het
Agl	A	G	3: 116,552,557 (GRCm39)	I459T	possibly damaging	Het
Arhgap45	G	A	10: 79,863,706 (GRCm39)	A819T	probably damaging	Het
Atg16l2	C	T	7: 100,945,714 (GRCm39)		probably null	Het
Bltp2	A	G	11: 78,177,457 (GRCm39)	T1921A	probably damaging	Het
C130073F10Rik	G	A	4: 101,748,031 (GRCm39)	R48*	probably null	Het
Cdc25b	C	T	2: 131,031,050 (GRCm39)	T125M	probably benign	Het
Chd9	T	A	8: 91,725,233 (GRCm39)	D1187E	unknown	Het
Col4a2	T	C	8: 11,475,542 (GRCm39)		probably null	Het
Cped1	T	C	6: 22,123,587 (GRCm39)	S447P	probably benign	Het
Ddx19a	T	A	8: 111,710,274 (GRCm39)	M109L	probably benign	Het
Def8	C	A	8: 124,188,215 (GRCm39)	Y431*	probably null	Het
Gata4	A	G	14: 63,438,962 (GRCm39)	S373P	probably benign	Het
Gm9837	A	T	11: 53,361,136 (GRCm39)	L26*	probably null	Het
Hspa1b	A	T	17: 35,176,557 (GRCm39)	V476E	probably damaging	Het
Htr5b	G	A	1: 121,456,108 (GRCm39)		probably benign	Het
Hydin	T	C	8: 111,336,277 (GRCm39)	V5018A	probably benign	Het
Ighv1-85	A	G	12: 115,963,923 (GRCm39)	S26P	probably benign	Het
Kics2	T	A	10: 121,581,247 (GRCm39)	F83I	possibly damaging	Het
Lrrc2	A	G	9: 110,789,910 (GRCm39)	K56E	possibly damaging	Het
Macf1	A	T	4: 123,266,219 (GRCm39)	I6793N	probably damaging	Het
Macf1	A	C	4: 123,275,923 (GRCm39)	V6215G	possibly damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nfxl1	A	G	5: 72,716,355 (GRCm39)		probably null	Het
Odad4	A	G	11: 100,454,505 (GRCm39)	D430G	probably benign	Het
Oprk1	A	T	1: 5,672,540 (GRCm39)	M226L	probably benign	Het
Or1e1	T	C	11: 73,245,247 (GRCm39)	S223P	possibly damaging	Het
Phf2	A	G	13: 48,961,227 (GRCm39)	L821P	unknown	Het
Rdh7	C	A	10: 127,723,284 (GRCm39)		probably null	Het
Rpl11	A	G	4: 135,778,968 (GRCm39)	V74A	possibly damaging	Het
Safb2	G	A	17: 56,873,051 (GRCm39)	R790C	possibly damaging	Het
Sgpp2	T	C	1: 78,393,609 (GRCm39)	F204S	probably benign	Het
Sgsm3	A	C	15: 80,893,643 (GRCm39)	I426L	possibly damaging	Het
Speer1b	A	G	5: 11,823,926 (GRCm39)	D158G	probably damaging	Het
Styxl2	A	G	1: 165,927,648 (GRCm39)	S655P	probably damaging	Het
Tbccd1	A	G	16: 22,637,189 (GRCm39)	L545P	probably damaging	Het
Toporsl	T	A	4: 52,610,489 (GRCm39)	F127L	probably damaging	Het
Ttn	T	G	2: 76,749,256 (GRCm39)	Q3931P	probably damaging	Het
Tuba1c	C	A	15: 98,935,396 (GRCm39)	L286I	probably benign	Het
Usp48	A	G	4: 137,348,507 (GRCm39)	R528G	possibly damaging	Het
Utrn	T	C	10: 12,573,867 (GRCm39)	T1068A	probably benign	Het
Vmn2r103	A	T	17: 20,032,205 (GRCm39)	T660S	probably damaging	Het
Vmn2r105	G	T	17: 20,444,880 (GRCm39)	Y537*	probably null	Het
Vmn2r88	A	T	14: 51,656,157 (GRCm39)	I744F		Het
Wnt9b	T	C	11: 103,621,601 (GRCm39)	E352G	probably damaging	Het
Zfp78	A	G	7: 6,376,228 (GRCm39)	N46D	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
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
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'- GAGTTACTTTTCGTGGCCCG -3'
(R):5'- ACCTGTCTCTGGGAGTTTGAAG -3'

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

Posted On

2020-07-13