Mutagenetix > Incidental Mutation

Incidental Mutation 'R7183:Cdc42bpg'

559140

Institutional Source

Beutler Lab

Gene Symbol

Cdc42bpg

Ensembl Gene

ENSMUSG00000024769

Gene Name

CDC42 binding protein kinase gamma (DMPK-like)

Synonyms

MRCKgamma

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.262) question?

Stock #

R7183 (G1)

Quality Score

189.009

Status

Validated

Chromosome

Chromosomal Location

6306456-6325652 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6310797 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 195 (D195G)

Ref Sequence

ENSEMBL: ENSMUSP00000025681 (fasta)

Gene Model

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

AlphaFold

Q80UW5

Predicted Effect

probably damaging
Transcript: ENSMUST00000025681
AA Change: D195G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025681
Gene: ENSMUSG00000024769
AA Change: D195G

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: 99.7%
20x: 99.2%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	G	A	1: 26,682,833	L1089F	probably benign	Het
Actn1	T	A	12: 80,168,932	M816L	possibly damaging	Het
Ahnak	T	C	19: 9,017,668	F5439L	probably damaging	Het
Apba2	G	A	7: 64,733,545	D369N	probably benign	Het
Arhgap32	A	G	9: 32,186,383	N228D	probably benign	Het
Arhgap33	T	A	7: 30,525,871		probably null	Het
Cacna1g	C	T	11: 94,439,737	C984Y	probably benign	Het
Cadm2	C	A	16: 66,882,832	G47*	probably null	Het
Ccdc125	A	G	13: 100,690,358	D241G	possibly damaging	Het
Ccdc39	T	G	3: 33,814,471	E822A	probably damaging	Het
Cd86	CA	CAA	16: 36,606,555		probably null	Het
Cdkl1	T	C	12: 69,748,932	R275G	probably damaging	Het
Chst4	T	C	8: 110,029,998	N411S	possibly damaging	Het
Cir1	A	G	2: 73,286,386	V210A	probably damaging	Het
Col6a1	A	G	10: 76,716,259		probably null	Het
Crmp1	C	A	5: 37,288,817	H606N	probably benign	Het
Cyp2j8	A	T	4: 96,479,181	N233K	probably damaging	Het
Dennd1b	A	T	1: 139,170,252	Q677L	unknown	Het
Dnah17	G	A	11: 118,129,188	T11I	probably benign	Het
Ehd1	A	G	19: 6,297,654	H346R	probably benign	Het
Emc3	G	T	6: 113,531,384	Y33*	probably null	Het
Ercc5	A	T	1: 44,161,808		probably null	Het
Ercc5	G	T	1: 44,161,809		probably null	Het
Fat3	A	C	9: 15,922,837	I4153S	possibly damaging	Het
Fn3krp	T	C	11: 121,421,605		probably null	Het
Gm2035	G	A	12: 87,919,722	R46W	possibly damaging	Het
Gmnc	C	T	16: 26,960,529	D249N	probably benign	Het
Gsn	C	T	2: 35,294,948	A305V	probably benign	Het
Haus6	A	T	4: 86,583,752	H627Q	possibly damaging	Het
Heg1	A	G	16: 33,738,550		probably null	Het
Hoxd9	G	T	2: 74,698,365	V104L	possibly damaging	Het
Igkv10-96	A	C	6: 68,632,216	S32A	probably benign	Het
Kcnd2	G	A	6: 21,216,437	V47M	probably damaging	Het
Mab21l3	C	T	3: 101,815,153	V386M	probably damaging	Het
Masp2	A	G	4: 148,612,157	S404G	probably benign	Het
Olfr1024	T	A	2: 85,904,142	Q304L	probably benign	Het
Olfr1454	A	G	19: 13,064,316	I302V	probably benign	Het
Olfr835	G	T	9: 19,035,332	D70Y	probably damaging	Het
P4htm	A	T	9: 108,581,860	M291K	possibly damaging	Het
Pde6c	T	C	19: 38,133,090	S49P	probably benign	Het
Pdzd7	A	G	19: 45,037,114	V314A	probably benign	Het
Pfkl	G	A	10: 78,002,082	R31*	probably null	Het
Phlpp2	C	A	8: 109,939,953	P1038Q	probably damaging	Het
Pik3c2b	T	C	1: 133,066,465	S56P	probably benign	Het
Plec	A	G	15: 76,205,705	V145A	unknown	Het
Prg3	G	A	2: 84,991,504	V158I	probably benign	Het
Prg3	G	T	2: 84,993,023	D181Y	probably damaging	Het
Rbp3	A	G	14: 33,955,204	T370A	probably benign	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Rubcnl	T	A	14: 75,049,626	M578K	probably damaging	Het
Siae	G	A	9: 37,616,946	V72M	possibly damaging	Het
Smchd1	A	T	17: 71,353,516	D1864E	probably benign	Het
Smox	T	C	2: 131,520,566	I255T	possibly damaging	Het
Tas2r123	A	G	6: 132,847,698	N186S	possibly damaging	Het
Thbs2	T	A	17: 14,690,116	I74F	possibly damaging	Het
Timm44	T	C	8: 4,267,311	D238G	probably damaging	Het
Tlk2	T	C	11: 105,221,359		probably null	Het
Tnc	A	G	4: 64,013,128	S782P	probably damaging	Het
Tpr	A	T	1: 150,406,551	K336N	probably damaging	Het
Uggt2	A	T	14: 119,019,637		probably null	Het
Vmn2r101	T	A	17: 19,612,178	I812N	probably damaging	Het
Vps33a	T	C	5: 123,535,215	Q436R	probably null	Het
Ywhaq	T	C	12: 21,416,869	K75E	possibly damaging	Het
Zfp87	A	G	13: 67,517,474	S290P	probably damaging	Het

Other mutations in Cdc42bpg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01149:Cdc42bpg	APN	19	6312205	splice site	probably benign
IGL01415:Cdc42bpg	APN	19	6310851	missense	probably damaging	1.00
IGL01517:Cdc42bpg	APN	19	6318437	missense	probably damaging	1.00
IGL01585:Cdc42bpg	APN	19	6320432	missense	possibly damaging	0.93
IGL01743:Cdc42bpg	APN	19	6309823	critical splice donor site	probably null
IGL01930:Cdc42bpg	APN	19	6311368	missense	probably damaging	1.00
IGL02092:Cdc42bpg	APN	19	6316826	splice site	probably benign
IGL02355:Cdc42bpg	APN	19	6310809	missense	possibly damaging	0.93
IGL02362:Cdc42bpg	APN	19	6310809	missense	possibly damaging	0.93
IGL02498:Cdc42bpg	APN	19	6322793	missense	probably benign
IGL03004:Cdc42bpg	APN	19	6311383	missense	probably benign	0.38
IGL03037:Cdc42bpg	APN	19	6311200	missense	probably damaging	1.00
PIT1430001:Cdc42bpg	UTSW	19	6322552	splice site	probably null
R0304:Cdc42bpg	UTSW	19	6317248	missense	probably damaging	0.99
R0367:Cdc42bpg	UTSW	19	6311395	missense	probably damaging	1.00
R0412:Cdc42bpg	UTSW	19	6313457	missense	probably damaging	1.00
R0742:Cdc42bpg	UTSW	19	6318575	critical splice donor site	probably null
R1026:Cdc42bpg	UTSW	19	6317187	missense	probably damaging	1.00
R1056:Cdc42bpg	UTSW	19	6314021	missense	probably benign	0.10
R1065:Cdc42bpg	UTSW	19	6322826	missense	probably damaging	1.00
R1476:Cdc42bpg	UTSW	19	6313782	missense	probably damaging	0.99
R1854:Cdc42bpg	UTSW	19	6320807	missense	possibly damaging	0.67
R1936:Cdc42bpg	UTSW	19	6310309	missense	probably damaging	1.00
R1962:Cdc42bpg	UTSW	19	6306855	missense	probably damaging	1.00
R2070:Cdc42bpg	UTSW	19	6320488	missense	probably damaging	1.00
R2167:Cdc42bpg	UTSW	19	6317677	missense	probably damaging	1.00
R3826:Cdc42bpg	UTSW	19	6317645	missense	probably damaging	0.99
R3829:Cdc42bpg	UTSW	19	6317645	missense	probably damaging	0.99
R4190:Cdc42bpg	UTSW	19	6321681	missense	probably damaging	1.00
R4249:Cdc42bpg	UTSW	19	6315266	missense	possibly damaging	0.65
R4499:Cdc42bpg	UTSW	19	6320555	missense	possibly damaging	0.69
R4731:Cdc42bpg	UTSW	19	6311191	missense	probably damaging	1.00
R4732:Cdc42bpg	UTSW	19	6311191	missense	probably damaging	1.00
R4733:Cdc42bpg	UTSW	19	6311191	missense	probably damaging	1.00
R4797:Cdc42bpg	UTSW	19	6320447	missense	probably damaging	1.00
R4831:Cdc42bpg	UTSW	19	6311335	missense	probably damaging	0.97
R4984:Cdc42bpg	UTSW	19	6316223	missense	possibly damaging	0.88
R5092:Cdc42bpg	UTSW	19	6313220	missense	probably benign	0.01
R5135:Cdc42bpg	UTSW	19	6320618	missense	probably damaging	1.00
R5183:Cdc42bpg	UTSW	19	6321805	intron	probably benign
R5208:Cdc42bpg	UTSW	19	6321720	missense	probably benign	0.01
R5240:Cdc42bpg	UTSW	19	6315899	missense	probably damaging	1.00
R5475:Cdc42bpg	UTSW	19	6311071	missense	probably damaging	0.99
R5703:Cdc42bpg	UTSW	19	6322673	missense	possibly damaging	0.87
R5876:Cdc42bpg	UTSW	19	6310815	missense	probably damaging	1.00
R6024:Cdc42bpg	UTSW	19	6317496	missense	probably damaging	1.00
R6266:Cdc42bpg	UTSW	19	6311473	missense	probably damaging	1.00
R6450:Cdc42bpg	UTSW	19	6314488	splice site	probably null
R6493:Cdc42bpg	UTSW	19	6318455	missense	probably damaging	0.96
R6983:Cdc42bpg	UTSW	19	6321668	missense	probably damaging	1.00
R7080:Cdc42bpg	UTSW	19	6315189	missense	probably damaging	0.97
R7125:Cdc42bpg	UTSW	19	6322291	missense	probably damaging	1.00
R7317:Cdc42bpg	UTSW	19	6314504	missense	probably benign	0.11
R7426:Cdc42bpg	UTSW	19	6318398	missense	probably damaging	1.00
R7504:Cdc42bpg	UTSW	19	6306784	missense	possibly damaging	0.85
R7530:Cdc42bpg	UTSW	19	6322275	missense	probably benign	0.21
R7530:Cdc42bpg	UTSW	19	6322276	missense	probably benign	0.12
R7739:Cdc42bpg	UTSW	19	6310815	missense	probably damaging	1.00
R7903:Cdc42bpg	UTSW	19	6313469	missense	possibly damaging	0.94
R8186:Cdc42bpg	UTSW	19	6306865	missense	probably damaging	1.00
R8331:Cdc42bpg	UTSW	19	6313447	missense	probably benign	0.08
R8870:Cdc42bpg	UTSW	19	6314520	missense	possibly damaging	0.94
R9014:Cdc42bpg	UTSW	19	6322259	missense	possibly damaging	0.88
R9256:Cdc42bpg	UTSW	19	6311037	missense	probably damaging	1.00
R9263:Cdc42bpg	UTSW	19	6322119	missense	probably damaging	1.00
R9343:Cdc42bpg	UTSW	19	6314523	missense	probably damaging	1.00
R9423:Cdc42bpg	UTSW	19	6313299	missense	probably damaging	1.00
R9565:Cdc42bpg	UTSW	19	6320666	missense	probably damaging	1.00
R9667:Cdc42bpg	UTSW	19	6320085	missense	probably benign	0.00
Z1177:Cdc42bpg	UTSW	19	6309746	missense	probably damaging	1.00
Z1177:Cdc42bpg	UTSW	19	6314522	missense	possibly damaging	0.94
Z1177:Cdc42bpg	UTSW	19	6314523	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGAGCATTGTGAGCATGTAC -3'
(R):5'- GCGACTGATGAATCCACCTGTG -3'

Sequencing Primer
(F):5'- TTGTGAGCATGTACACACACAG -3'
(R):5'- TGTTGGCACCATGAGGC -3'

Posted On

2019-06-26