Mutagenetix > Incidental Mutation

Incidental Mutation 'R5876:Cdc42bpg'

455564

Institutional Source

Beutler Lab

Gene Symbol

Cdc42bpg

Ensembl Gene

ENSMUSG00000024769

Gene Name

CDC42 binding protein kinase gamma (DMPK-like)

Synonyms

MRCKgamma

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.443) question?

Stock #

R5876 (G1)

Quality Score

108

Status

Not validated

Chromosome

Chromosomal Location

6306456-6325652 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6310815 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 201 (I201N)

Ref Sequence

ENSEMBL: ENSMUSP00000025681 (fasta)

Gene Model

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

AlphaFold

Q80UW5

Predicted Effect

probably damaging
Transcript: ENSMUST00000025681
AA Change: I201N

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

SMART Domains

Protein: ENSMUSP00000025681
Gene: ENSMUSG00000024769
AA Change: I201N

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: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034E13Rik	A	G	18: 52,663,582	D64G	possibly damaging	Het
Ano2	T	A	6: 126,039,279	M925K	possibly damaging	Het
Arnt2	T	C	7: 84,347,512	T69A	probably damaging	Het
Asap2	T	A	12: 21,212,809	N229K	possibly damaging	Het
Atp13a3	T	A	16: 30,362,734	N23Y	probably benign	Het
Cbr4	G	A	8: 61,490,593	G91R	possibly damaging	Het
Cdc27	A	T	11: 104,515,418	C624S	probably benign	Het
Cdh5	A	G	8: 104,142,577	Y645C	probably damaging	Het
Celsr2	C	T	3: 108,413,943	V518I	probably damaging	Het
Clca4b	T	C	3: 144,912,060	T761A	possibly damaging	Het
Cpne4	C	A	9: 104,925,770	S204R	probably damaging	Het
Dcaf1	T	C	9: 106,863,650	W1279R	probably damaging	Het
Dennd4a	C	T	9: 64,911,755	P1731S	probably damaging	Het
Dmxl1	T	A	18: 49,870,984	V892D	possibly damaging	Het
Fam131b	A	G	6: 42,321,248		probably null	Het
Fam83b	T	A	9: 76,491,850	D657V	possibly damaging	Het
Fam83e	T	A	7: 45,722,363		probably null	Het
Fbxo4	A	T	15: 3,977,819	I121N	probably damaging	Het
Gabrg2	A	G	11: 41,968,820	S202P	probably damaging	Het
Gm10471	T	C	5: 26,084,718	E237G	probably damaging	Het
Grid2	T	A	6: 64,663,162	I788N	probably damaging	Het
Grik4	T	A	9: 42,688,023	N53Y	probably damaging	Het
Hipk2	A	C	6: 38,730,867		probably null	Het
Hps5	T	C	7: 46,789,196	T38A	probably damaging	Het
Hs1bp3	A	G	12: 8,341,843	D315G	possibly damaging	Het
Kdm4a	C	T	4: 118,138,876	M985I	probably damaging	Het
Kdm5d	A	G	Y: 900,525	Y190C	probably damaging	Het
Krt86	T	C	15: 101,476,610	S295P	probably damaging	Het
Matr3	T	A	18: 35,587,738	D413E	probably benign	Het
Mbd5	T	A	2: 49,274,645	F319L	probably damaging	Het
Mcoln1	T	A	8: 3,510,910	Y411N	probably damaging	Het
Mpdz	C	A	4: 81,285,474	E1863*	probably null	Het
Mrps9	A	G	1: 42,895,378	E173G	probably damaging	Het
Olfr8	A	T	10: 78,955,357	I51F	probably benign	Het
Osmr	T	C	15: 6,821,047	T692A	probably benign	Het
Pkhd1l1	A	T	15: 44,578,588	H3641L	possibly damaging	Het
Pml	T	C	9: 58,233,182	T421A	possibly damaging	Het
Podxl	A	G	6: 31,528,456		probably null	Het
Ppargc1b	C	G	18: 61,309,093	D591H	probably damaging	Het
Prkag3	A	G	1: 74,748,816		probably benign	Het
Proz	A	G	8: 13,073,448	R240G	probably benign	Het
Ptpn13	C	A	5: 103,476,960	D43E	probably damaging	Het
Rbm5	T	G	9: 107,760,326	K135N	probably damaging	Het
Ska1	G	A	18: 74,197,528	T201M	probably damaging	Het
Slc35f5	A	C	1: 125,587,363		probably null	Het
Slc9a3	T	C	13: 74,161,723	L510P	probably damaging	Het
Svil	A	G	18: 5,082,828	K1231E	probably damaging	Het
Tanc2	T	C	11: 105,922,613	S1628P	possibly damaging	Het
Tm9sf3	T	A	19: 41,240,584	D260V	probably damaging	Het
Ttc9	G	T	12: 81,631,622	R73L	probably damaging	Het
Vps13b	A	G	15: 35,917,061	I3684V	probably damaging	Het
Vps8	T	C	16: 21,461,439		probably null	Het
Vwa3b	T	A	1: 37,076,439	I328N	probably damaging	Het
Wdr1	C	T	5: 38,530,023	V222M	probably benign	Het
Xpnpep1	T	A	19: 52,997,008	T530S	probably damaging	Het
Zc3h6	C	T	2: 128,993,277	S111F	probably benign	Het
Zfp768	G	A	7: 127,344,546	P137S	probably benign	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
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
R7183:Cdc42bpg	UTSW	19	6310797	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'- GGAGCATTGTGAGCATGTACAC -3'
(R):5'- CGACTGATGAATCCACCTGTG -3'

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

Posted On

2017-02-10