Mutagenetix > Incidental Mutation

Incidental Mutation 'R4984:Cdc42bpg'

385807

Institutional Source

Beutler Lab

Gene Symbol

Cdc42bpg

Ensembl Gene

ENSMUSG00000024769

Gene Name

CDC42 binding protein kinase gamma

Synonyms

MRCKgamma

MMRRC Submission

042578-MU

Accession Numbers

Essential gene?

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

Stock #

R4984 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6356486-6375682 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6366253 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 812 (I812N)

Ref Sequence

ENSEMBL: ENSMUSP00000025681 (fasta)

Gene Model

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

AlphaFold

Q80UW5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025681
AA Change: I812N

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025681
Gene: ENSMUSG00000024769
AA Change: I812N

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

0.1075

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.4%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra2a	T	C	19: 54,035,070 (GRCm39)	I142T	probably damaging	Het
Cd109	T	C	9: 78,541,959 (GRCm39)		probably null	Het
Cftr	A	G	6: 18,235,198 (GRCm39)	E479G	possibly damaging	Het
Cimap3	T	A	3: 105,908,810 (GRCm39)		probably benign	Het
Cpb1	GTTT	GTT	3: 20,324,516 (GRCm39)		probably null	Het
Crocc	T	C	4: 140,761,763 (GRCm39)	E873G	probably damaging	Het
Dnah3	C	T	7: 119,528,002 (GRCm39)	V3827I	probably benign	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
E230001N04Rik	T	C	17: 28,742,780 (GRCm39)		noncoding transcript	Het
Gpr89	T	A	3: 96,812,512 (GRCm39)	M10L	probably benign	Het
Kbtbd7	T	C	14: 79,664,602 (GRCm39)	Y145H	probably damaging	Het
Kcnh8	T	A	17: 53,184,995 (GRCm39)	Y426N	probably damaging	Het
Mipep	A	G	14: 61,025,631 (GRCm39)	D129G	possibly damaging	Het
Muc15	C	T	2: 110,561,918 (GRCm39)	P118L	probably damaging	Het
Mug1	T	C	6: 121,815,576 (GRCm39)		probably benign	Het
Nubp1	T	A	16: 10,239,108 (GRCm39)	D208E	probably damaging	Het
Or4a47	A	T	2: 89,666,157 (GRCm39)	V44D	probably damaging	Het
Or4k40	A	T	2: 111,251,192 (GRCm39)	Y35N	probably damaging	Het
Or4p4	A	G	2: 88,242,921 (GRCm39)	L27P	probably damaging	Het
Or52h9	T	G	7: 104,202,228 (GRCm39)	I34S	probably benign	Het
Or8g2	A	G	9: 39,821,906 (GRCm39)	D269G	probably benign	Het
Pdcd5	A	C	7: 35,342,110 (GRCm39)	V166G	probably damaging	Het
Pde4d	T	C	13: 109,876,998 (GRCm39)	L173P	probably damaging	Het
Phldb2	T	C	16: 45,645,996 (GRCm39)	Y195C	probably damaging	Het
Pou4f1	T	C	14: 104,703,619 (GRCm39)	E271G	unknown	Het
Ppl	T	C	16: 4,905,505 (GRCm39)	I1597V	probably benign	Het
Pramel17	G	C	4: 101,692,796 (GRCm39)	N401K	possibly damaging	Het
Sorl1	C	A	9: 41,902,638 (GRCm39)	D1640Y	probably damaging	Het
Taf4b	T	C	18: 14,968,873 (GRCm39)	L670P	probably damaging	Het
Tox3	TCTGCTGCTGCTGCTGCTG	TCTGCTGCTGCTGCTG	8: 90,975,270 (GRCm39)		probably benign	Het
Ttc39b	A	T	4: 83,160,446 (GRCm39)	I377K	probably benign	Het
Ttll3	A	G	6: 113,389,901 (GRCm39)	D762G	probably benign	Het
Ubp1	T	A	9: 113,788,460 (GRCm39)	I279K	probably damaging	Het
Vmn2r93	T	A	17: 18,533,389 (GRCm39)		probably null	Het
Wdfy3	C	T	5: 102,090,985 (GRCm39)	D532N	probably benign	Het
Zfp644	A	T	5: 106,784,783 (GRCm39)	L588Q	possibly 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
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
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'- TGAGACAGTTCTGTCCCTCC -3'
(R):5'- CTCTGCAGAAAATGAATGAGCG -3'

Sequencing Primer
(F):5'- CCACACCGGACCTGTCTGTC -3'
(R):5'- TGTGGAGTCTCACCCCCATG -3'

Posted On

2016-05-10