Mutagenetix > Incidental Mutation

Incidental Mutation 'R7530:Cdc42bpg'

583286

Institutional Source

Beutler Lab

Gene Symbol

Cdc42bpg

Ensembl Gene

ENSMUSG00000024769

Gene Name

CDC42 binding protein kinase gamma

Synonyms

MRCKgamma

MMRRC Submission

045602-MU

Accession Numbers

Essential gene?

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

Stock #

R7530 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6356486-6375682 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 6372305 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1430 (F1430L)

Ref Sequence

ENSEMBL: ENSMUSP00000025681 (fasta)

Gene Model

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

AlphaFold

Q80UW5

Predicted Effect

probably benign
Transcript: ENSMUST00000025681
AA Change: F1430L

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000025681
Gene: ENSMUSG00000024769
AA Change: F1430L

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

Meta Mutation Damage Score

0.0786

Coding Region Coverage

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

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	C	T	2: 155,845,840 (GRCm39)	V6I	probably benign	Het
Atp10a	A	G	7: 58,423,724 (GRCm39)	T230A	probably benign	Het
Atp5mc2	A	T	15: 102,576,183 (GRCm39)	M1K	probably null	Het
Atp8a1	A	C	5: 67,902,971 (GRCm39)	L535R		Het
Bsn	A	G	9: 107,989,155 (GRCm39)	I2199T	probably damaging	Het
Ccdc73	A	G	2: 104,824,915 (GRCm39)	T155A		Het
Chat	A	T	14: 32,130,915 (GRCm39)	Y575*	probably null	Het
Cimip4	T	C	15: 78,270,516 (GRCm39)	D84G	probably benign	Het
Col6a4	A	T	9: 105,945,589 (GRCm39)	C842S	probably damaging	Het
Coq2	T	C	5: 100,822,008 (GRCm39)	S34G	probably benign	Het
Crybg1	C	T	10: 43,875,069 (GRCm39)	A680T	possibly damaging	Het
Ctsr	T	A	13: 61,310,931 (GRCm39)	K38N	probably damaging	Het
Dpm2	T	C	2: 32,462,313 (GRCm39)	F33S	probably damaging	Het
Ecpas	A	G	4: 58,815,317 (GRCm39)	M1322T	probably damaging	Het
Ext2	T	A	2: 93,491,998 (GRCm39)	H564L	probably benign	Het
Fbxl2	G	T	9: 113,818,241 (GRCm39)	H202N	probably benign	Het
Fra10ac1	A	T	19: 38,204,353 (GRCm39)	Y74*	probably null	Het
Greb1	T	A	12: 16,767,207 (GRCm39)	I332F	probably benign	Het
Ifnar2	A	G	16: 91,201,201 (GRCm39)	S481G	probably benign	Het
Igkv9-123	G	A	6: 67,931,381 (GRCm39)	P62S	possibly damaging	Het
Iqub	T	C	6: 24,450,622 (GRCm39)	Q659R	probably benign	Het
Kansl2	T	C	15: 98,426,896 (GRCm39)	T242A	probably benign	Het
Kif28	C	T	1: 179,536,045 (GRCm39)	G543D	probably benign	Het
Lsg1	A	G	16: 30,401,419 (GRCm39)	S93P	possibly damaging	Het
Med23	T	A	10: 24,781,851 (GRCm39)	C1052S	probably benign	Het
Mgam	G	T	6: 40,686,152 (GRCm39)		probably null	Het
Mtmr4	C	T	11: 87,502,702 (GRCm39)	R919W	probably damaging	Het
Muc5ac	G	T	7: 141,367,536 (GRCm39)	V2986L	possibly damaging	Het
Myo5b	A	G	18: 74,864,802 (GRCm39)	E1340G	probably benign	Het
Nkd2	T	C	13: 73,995,078 (GRCm39)	D40G	possibly damaging	Het
Nudt5	T	C	2: 5,869,179 (GRCm39)	L135S	probably damaging	Het
Oca2	A	C	7: 55,981,720 (GRCm39)	D614A	probably damaging	Het
Or1e16	A	G	11: 73,279,189 (GRCm39)	V221A	possibly damaging	Het
Or6c201	A	C	10: 128,969,849 (GRCm39)		probably null	Het
Or8k24	T	A	2: 86,216,515 (GRCm39)	L82F	probably damaging	Het
Plec	C	A	15: 76,069,844 (GRCm39)	A991S	unknown	Het
Plekhg2	G	A	7: 28,061,353 (GRCm39)	R817C	probably damaging	Het
Plrg1	T	A	3: 82,965,989 (GRCm39)	L48H	probably damaging	Het
Prx	A	G	7: 27,207,397 (GRCm39)	E18G	probably damaging	Het
Ptprf	T	C	4: 118,069,945 (GRCm39)	Y1479C	probably damaging	Het
Rap1b	A	T	10: 117,653,357 (GRCm39)	Y159*	probably null	Het
Rbck1	T	C	2: 152,166,212 (GRCm39)	E242G	possibly damaging	Het
Rxfp1	T	C	3: 79,557,768 (GRCm39)	D570G	probably benign	Het
Slc35f5	G	T	1: 125,512,275 (GRCm39)	L358F	probably damaging	Het
Smarcd2	A	G	11: 106,156,587 (GRCm39)	W274R	probably damaging	Het
Spata6l	A	T	19: 28,926,121 (GRCm39)	Y43*	probably null	Het
Ssu72	A	G	4: 155,815,786 (GRCm39)	T77A	probably benign	Het
Tomm40	G	A	7: 19,436,829 (GRCm39)	T297I	possibly damaging	Het
Urb1	A	T	16: 90,558,522 (GRCm39)	I1743N	probably damaging	Het
Utp20	G	A	10: 88,588,868 (GRCm39)	R2434C	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
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'- AGAGCAAGCGCCGTTTCTTC -3'
(R):5'- GGAACTCAGCTACTGGCAATG -3'

Sequencing Primer
(F):5'- CTTCCGGGTGTCTGATGAGC -3'
(R):5'- ACTCAGCTACTGGCAATGAGGTC -3'

Posted On

2019-10-17