Mutagenetix > Incidental Mutation

Incidental Mutation 'R4249:Cdc42bpg'

320553

Institutional Source

Beutler Lab

Gene Symbol

Cdc42bpg

Ensembl Gene

ENSMUSG00000024769

Gene Name

CDC42 binding protein kinase gamma

Synonyms

MRCKgamma

MMRRC Submission

041065-MU

Accession Numbers

Essential gene?

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

Stock #

R4249 (G1)

Quality Score

118

Status

Not validated

Chromosome

Chromosomal Location

6356486-6375682 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6365296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 718 (T718A)

Ref Sequence

ENSEMBL: ENSMUSP00000025681 (fasta)

Gene Model

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

AlphaFold

Q80UW5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025681
AA Change: T718A

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000025681
Gene: ENSMUSG00000024769
AA Change: T718A

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: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,606,013 (GRCm39)	N36S	possibly damaging	Het
Ankrd39	A	G	1: 36,586,236 (GRCm39)	S11P	probably benign	Het
Aox1	A	G	1: 58,338,978 (GRCm39)	S324G	probably benign	Het
Atl3	T	C	19: 7,509,703 (GRCm39)	V477A	probably benign	Het
Bcar1	T	C	8: 112,447,525 (GRCm39)	T151A	probably benign	Het
Col9a1	C	T	1: 24,283,462 (GRCm39)	R843C	probably damaging	Het
Dnah12	T	A	14: 26,430,341 (GRCm39)	D316E	possibly damaging	Het
Fat2	A	G	11: 55,175,127 (GRCm39)	V1862A	probably damaging	Het
Fbxw5	C	A	2: 25,393,472 (GRCm39)	N233K	probably damaging	Het
Fcer2a	A	G	8: 3,738,831 (GRCm39)	F75L	probably benign	Het
Fhod3	A	G	18: 25,123,123 (GRCm39)	K271R	probably null	Het
Gimd1	T	C	3: 132,350,169 (GRCm39)	V144A	possibly damaging	Het
Glt1d1	T	C	5: 127,768,176 (GRCm39)		probably null	Het
Hecw2	C	T	1: 53,871,804 (GRCm39)	V1381M	probably damaging	Het
Kansl1l	C	T	1: 66,812,637 (GRCm39)	D459N	probably damaging	Het
Lmtk3	G	A	7: 45,443,486 (GRCm39)	C723Y	possibly damaging	Het
Muc4	T	C	16: 32,576,200 (GRCm39)		probably benign	Het
Myom1	T	A	17: 71,399,135 (GRCm39)	V999E	probably damaging	Het
Nckap5	A	G	1: 125,955,376 (GRCm39)	L460P	probably benign	Het
Or12d17	T	C	17: 37,777,715 (GRCm39)	M206T	probably damaging	Het
Phf13	A	T	4: 152,076,552 (GRCm39)	N213K	probably damaging	Het
Phldb3	T	C	7: 24,326,745 (GRCm39)	I591T	probably damaging	Het
Pik3cb	T	C	9: 98,983,229 (GRCm39)		probably null	Het
Pkd1l1	C	T	11: 8,815,543 (GRCm39)	R1456K	possibly damaging	Het
Plekhh2	A	G	17: 84,893,765 (GRCm39)	E860G	possibly damaging	Het
Resf1	T	A	6: 149,227,041 (GRCm39)	M29K	possibly damaging	Het
Rest	A	G	5: 77,429,959 (GRCm39)	T793A	probably benign	Het
Ropn1	C	T	16: 34,498,826 (GRCm39)	Q205*	probably null	Het
Sacs	A	C	14: 61,440,906 (GRCm39)	K984T	probably benign	Het
Samd11	G	A	4: 156,334,943 (GRCm39)	R102C	probably damaging	Het
Satl1	A	G	X: 111,316,033 (GRCm39)	S141P	probably benign	Het
Shank1	C	A	7: 43,969,160 (GRCm39)	H352N	unknown	Het
Slc22a27	A	T	19: 7,903,244 (GRCm39)	I162K	possibly damaging	Het
Snx8	A	G	5: 140,341,800 (GRCm39)	L121P	probably damaging	Het
Sumf1	A	C	6: 108,131,974 (GRCm39)	V156G	probably damaging	Het
Tln1	A	T	4: 43,536,104 (GRCm39)	V2027E	probably damaging	Het
Trdn	A	G	10: 33,326,994 (GRCm39)	I594M	probably benign	Het
Trim5	C	G	7: 103,926,022 (GRCm39)	E180Q	possibly damaging	Het
Tsen2	A	G	6: 115,524,785 (GRCm39)		probably benign	Het
Tubb1	A	T	2: 174,297,526 (GRCm39)	E45V	probably null	Het
Vmn2r67	T	A	7: 84,799,722 (GRCm39)		probably null	Het
Zcchc14	CTGATGGTGGTGGTGATGGTGGTGG	CTGATGGTGGTGG	8: 122,331,031 (GRCm39)		probably benign	Het
Zfp160	T	A	17: 21,246,000 (GRCm39)	F183L	probably benign	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
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
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'- ATCCTCAGCTGGTAGGGACATG -3'
(R):5'- TCAGCATAAACCTGGAGCCTTG -3'

Sequencing Primer
(F):5'- CTGGTAGGGACATGGAGCCTG -3'
(R):5'- AGGTATGCTGCCAAACCTG -3'

Posted On

2015-06-12