Mutagenetix > Incidental Mutation

Incidental Mutation 'R9263:Cdc42bpg'

702399

Institutional Source

Beutler Lab

Gene Symbol

Cdc42bpg

Ensembl Gene

ENSMUSG00000024769

Gene Name

CDC42 binding protein kinase gamma

Synonyms

MRCKgamma

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9263 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6356486-6375682 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6372149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1414 (S1414P)

Ref Sequence

ENSEMBL: ENSMUSP00000025681 (fasta)

Gene Model

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

AlphaFold

Q80UW5

Predicted Effect

probably damaging
Transcript: ENSMUST00000025681
AA Change: S1414P

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

SMART Domains

Protein: ENSMUSP00000025681
Gene: ENSMUSG00000024769
AA Change: S1414P

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: 98.9%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c14	T	C	13: 4,113,620 (GRCm39)	S51P	probably damaging	Het
Arhgef38	T	G	3: 132,866,529 (GRCm39)	K203Q		Het
Cacna1d	G	A	14: 29,796,925 (GRCm39)	R1517W	probably damaging	Het
Ccdc80	T	A	16: 44,915,949 (GRCm39)	M235K	probably damaging	Het
Dab2ip	A	G	2: 35,602,891 (GRCm39)	D395G	probably damaging	Het
Dmxl2	T	C	9: 54,358,945 (GRCm39)	E255G	probably benign	Het
Dnaja1	T	A	4: 40,724,133 (GRCm39)	M98K	probably benign	Het
Dnajb7	G	A	15: 81,292,266 (GRCm39)	R24C	probably benign	Het
Dscc1	C	A	15: 54,947,505 (GRCm39)	W225L	probably damaging	Het
Dsg2	T	A	18: 20,727,223 (GRCm39)	V590D	probably benign	Het
Epcam	A	G	17: 87,947,960 (GRCm39)		probably benign	Het
Fbn2	T	C	18: 58,257,344 (GRCm39)	Y341C	probably damaging	Het
Fry	T	G	5: 150,322,728 (GRCm39)	L1040R	probably damaging	Het
Gm9639	C	T	10: 77,630,828 (GRCm39)	C28Y	unknown	Het
Hsd17b7	A	G	1: 169,794,833 (GRCm39)	S69P	probably damaging	Het
Igsf1	A	G	X: 48,884,191 (GRCm39)	M2T	possibly damaging	Het
Katnip	T	A	7: 125,469,867 (GRCm39)	D1445E	probably damaging	Het
Kmt2d	TGCTGCTGCTGCTGCTGCTGG	TG	15: 98,747,499 (GRCm39)		probably null	Het
Lrp5	T	C	19: 3,654,190 (GRCm39)	Y1079C	probably damaging	Het
Lrp6	T	C	6: 134,457,467 (GRCm39)	D779G	probably damaging	Het
Nbea	AC	A	3: 55,998,393 (GRCm39)		probably null	Het
Pacsin1	A	G	17: 27,923,924 (GRCm39)	D106G	probably damaging	Het
Pcm1	T	A	8: 41,732,790 (GRCm39)	D682E	probably benign	Het
Pex6	A	G	17: 47,023,231 (GRCm39)	D269G	probably benign	Het
Rcor1	T	A	12: 111,078,327 (GRCm39)	V474E		Het
Rdh16	A	G	10: 127,649,306 (GRCm39)	D254G	probably benign	Het
Rp1	A	T	1: 4,418,675 (GRCm39)	D812E	probably benign	Het
Rp1	A	G	1: 4,419,160 (GRCm39)	S651P	probably benign	Het
Sec16b	G	A	1: 157,359,748 (GRCm39)		probably benign	Het
Sephs2	C	T	7: 126,872,122 (GRCm39)	G324S	probably damaging	Het
Sirpb1a	T	C	3: 15,481,992 (GRCm39)	D112G	probably damaging	Het
Slc25a47	C	G	12: 108,820,215 (GRCm39)	T73S	probably benign	Het
Slco4c1	A	T	1: 96,799,509 (GRCm39)	L109H	probably damaging	Het
Smc2	A	G	4: 52,470,848 (GRCm39)	E845G	possibly damaging	Het
Sstr3	G	T	15: 78,423,792 (GRCm39)	N318K	probably damaging	Het
Suz12	A	G	11: 79,904,087 (GRCm39)		probably benign	Het
Sycp2	A	G	2: 178,035,931 (GRCm39)	I252T	probably damaging	Het
Syne3	T	C	12: 104,934,415 (GRCm39)	Y118C	probably damaging	Het
Tbx18	C	A	9: 87,611,521 (GRCm39)	A170S	probably damaging	Het
Trak2	T	C	1: 58,985,481 (GRCm39)	N6D	probably benign	Het
Ttn	G	A	2: 76,720,868 (GRCm39)	T6852I	unknown	Het
Tufm	A	G	7: 126,088,100 (GRCm39)	E201G	probably damaging	Het
Vwa3b	C	A	1: 37,099,493 (GRCm39)	P236Q	probably benign	Het
Xirp2	A	G	2: 67,345,289 (GRCm39)	Y2510C	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
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
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'- AGGAATCCATTGGCAGGTG -3'
(R):5'- GAGATGAACTTGGAGCGCAC -3'

Sequencing Primer
(F):5'- GAGGGCGTATATATCTGCCTACATC -3'
(R):5'- GAGCGCACAAAAGGGTCCTTC -3'

Posted On

2022-03-25