Mutagenetix > Incidental Mutation

Incidental Mutation 'R2031:Cul5'

221248

Institutional Source

Beutler Lab

Gene Symbol

Cul5

Ensembl Gene

ENSMUSG00000032030

Gene Name

cullin 5

Synonyms

VACM-1, C030032G03Rik, C330021I08Rik, 8430423K24Rik, 4921514I20Rik

MMRRC Submission

040038-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2031 (G1)

Quality Score

162

Status

Validated

Chromosome

Chromosomal Location

53614582-53670014 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53667180 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 36 (V36A)

Ref Sequence

ENSEMBL: ENSMUSP00000133144 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034529] [ENSMUST00000120122] [ENSMUST00000166367]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034529
AA Change: V36A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034529
Gene: ENSMUSG00000032030
AA Change: V36A

Domain	Start	End	E-Value	Type
PDB:2WZK\|A	76	461	N/A	PDB
SCOP:d1ldja2	91	459	1e-109	SMART
CULLIN	510	661	1.12e-80	SMART
Cullin_Nedd8	782	849	5.12e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120122

SMART Domains

Protein: ENSMUSP00000113490
Gene: ENSMUSG00000032030

Domain	Start	End	E-Value	Type
PDB:4JGH\|D	1	258	N/A	PDB
SCOP:d1ldja2	5	255	2e-75	SMART
CULLIN	306	457	1.12e-80	SMART
Cullin_Nedd8	578	645	5.12e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123499

Predicted Effect

probably benign
Transcript: ENSMUST00000133872

SMART Domains

Protein: ENSMUSP00000121734
Gene: ENSMUSG00000032030

Domain	Start	End	E-Value	Type
PDB:2WZK\|A	5	49	4e-25	PDB
SCOP:d1ldja2	20	49	1e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146938

Predicted Effect

probably benign
Transcript: ENSMUST00000166367
AA Change: V36A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000133144
Gene: ENSMUSG00000032030
AA Change: V36A

Domain	Start	End	E-Value	Type
PDB:2WZK\|A	76	434	N/A	PDB
SCOP:d1ldja2	91	432	9e-99	SMART
CULLIN	483	634	1.12e-80	SMART
Cullin_Nedd8	755	822	5.12e-17	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

98% (55/56)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit complete embryonic lethality. Mice heterozygous for a null allele exhibit decreased susceptibility to LPS-induced lung injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	G	T	5: 121,501,055	N642K	possibly damaging	Het
Akap11	T	A	14: 78,510,037	I1637L	possibly damaging	Het
Arhgap28	G	T	17: 67,896,116	T114N	probably damaging	Het
Arid5b	A	G	10: 68,278,688		probably null	Het
Atp10a	T	A	7: 58,827,930	C1292*	probably null	Het
Casp4	A	G	9: 5,321,401	S51G	probably benign	Het
Cast	T	C	13: 74,798,652		probably null	Het
Ccdc87	T	C	19: 4,841,687	F736L	probably damaging	Het
Cdon	T	C	9: 35,504,074	S1203P	probably damaging	Het
Cep290	G	A	10: 100,512,400		probably null	Het
Cep85	A	G	4: 134,132,450	V634A	probably benign	Het
Cpeb3	C	T	19: 37,044,679	R589H	probably damaging	Het
Crebrf	T	G	17: 26,742,921	S331A	probably damaging	Het
Dock2	T	A	11: 34,727,470		probably benign	Het
Doxl2	T	C	6: 48,975,855	V238A	probably damaging	Het
Dstyk	G	A	1: 132,453,191	A475T	probably damaging	Het
Enpp6	C	A	8: 47,053,614	P151Q	probably damaging	Het
Fan1	A	G	7: 64,354,424	Y765H	probably damaging	Het
Hsfy2	A	T	1: 56,636,317	S354T	probably benign	Het
Ifi204	A	C	1: 173,752,777	F389C	probably damaging	Het
Ikbip	T	C	10: 91,096,612	Y373H	probably benign	Het
Kbtbd11	C	A	8: 15,028,021	P207T	possibly damaging	Het
Krt73	A	C	15: 101,798,764		probably benign	Het
Mfsd6	T	A	1: 52,708,854	Q284L	probably benign	Het
Mmp1b	T	A	9: 7,368,607	D415V	possibly damaging	Het
Mrc1	A	T	2: 14,321,773	T1161S	probably damaging	Het
Ms4a18	A	G	19: 11,013,650	S27P	probably benign	Het
Muc6	G	A	7: 141,638,400	S2120F	possibly damaging	Het
Mycbp2	G	T	14: 103,188,592	R2366S	probably damaging	Het
Nfkbia	A	G	12: 55,491,152	L172P	probably damaging	Het
Nrros	C	T	16: 32,144,157	W311*	probably null	Het
Olfr1212	A	G	2: 88,959,299	T278A	probably benign	Het
Olfr1436	A	T	19: 12,298,376	V252D	probably damaging	Het
Olfr1466	T	C	19: 13,342,406	L216S	probably benign	Het
Olfr412	A	G	11: 74,364,951	Y94C	probably damaging	Het
Olfr585	A	G	7: 103,098,164	Y141C	probably damaging	Het
Olfr697	A	G	7: 106,741,898	F12S	probably damaging	Het
Parvb	A	T	15: 84,282,835	Y117F	probably benign	Het
Plch2	A	G	4: 155,043,027		probably benign	Het
Plxnb2	A	T	15: 89,162,810	C769*	probably null	Het
Plxnc1	G	T	10: 94,943,667	D304E	probably benign	Het
Prkg2	T	C	5: 99,024,451	D135G	possibly damaging	Het
Ptprb	A	G	10: 116,317,543	D635G	probably benign	Het
Rapgef6	T	G	11: 54,552,858	V89G	probably benign	Het
Ror2	T	A	13: 53,117,330	T330S	probably benign	Het
Ros1	A	G	10: 52,067,068	V2050A	possibly damaging	Het
Serpinb6e	T	C	13: 33,837,750		probably benign	Het
Skp2	C	A	15: 9,113,698	G376C	probably damaging	Het
Smarca4	T	C	9: 21,686,062	V1371A	possibly damaging	Het
Syvn1	G	A	19: 6,050,530	R317H	probably damaging	Het
Tdo2	T	A	3: 81,969,505	D139V	probably damaging	Het
Tmem130	A	G	5: 144,752,426	V135A	possibly damaging	Het
Tpr	A	T	1: 150,442,119	Q2126L	probably benign	Het
Txlnb	A	G	10: 17,830,314	M324V	possibly damaging	Het
Ubxn10	A	G	4: 138,721,263	M34T	possibly damaging	Het
Vmn2r95	T	C	17: 18,439,455	W154R	possibly damaging	Het

Other mutations in Cul5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01674:Cul5	APN	9	53635007	missense	probably damaging	1.00
IGL02043:Cul5	APN	9	53658673	missense	probably benign	0.26
IGL02145:Cul5	APN	9	53635075	splice site	probably benign
IGL02261:Cul5	APN	9	53635037	missense	probably damaging	1.00
IGL02281:Cul5	APN	9	53635049	missense	possibly damaging	0.87
IGL02639:Cul5	APN	9	53655342	missense	possibly damaging	0.89
IGL02697:Cul5	APN	9	53655331	missense	probably benign
IGL02752:Cul5	APN	9	53634978	missense	probably damaging	0.98
IGL03017:Cul5	APN	9	53644485	critical splice donor site	probably null
IGL03031:Cul5	APN	9	53642675	splice site	probably benign
IGL03196:Cul5	APN	9	53625880	missense	probably damaging	0.99
R0142:Cul5	UTSW	9	53635050	missense	probably damaging	0.98
R0415:Cul5	UTSW	9	53667070	missense	probably benign	0.00
R1619:Cul5	UTSW	9	53658593	missense	probably benign	0.00
R1675:Cul5	UTSW	9	53646683	missense	probably benign	0.00
R2059:Cul5	UTSW	9	53667156	missense	probably damaging	0.98
R3401:Cul5	UTSW	9	53621212	missense	probably benign	0.02
R3427:Cul5	UTSW	9	53617890	missense	probably benign
R3701:Cul5	UTSW	9	53629216	missense	probably damaging	0.99
R3702:Cul5	UTSW	9	53629216	missense	probably damaging	0.99
R3815:Cul5	UTSW	9	53622943	missense	probably benign	0.31
R3848:Cul5	UTSW	9	53617986	missense	probably benign	0.34
R3849:Cul5	UTSW	9	53617986	missense	probably benign	0.34
R3850:Cul5	UTSW	9	53617986	missense	probably benign	0.34
R4592:Cul5	UTSW	9	53633727	splice site	probably benign
R4690:Cul5	UTSW	9	53622871	missense	probably damaging	1.00
R5154:Cul5	UTSW	9	53625867	missense	probably damaging	1.00
R5173:Cul5	UTSW	9	53642734	missense	probably benign
R5645:Cul5	UTSW	9	53622943	missense	probably benign	0.17
R5868:Cul5	UTSW	9	53658673	missense	probably benign	0.26
R5975:Cul5	UTSW	9	53622793	missense	probably damaging	1.00
R6251:Cul5	UTSW	9	53646794	missense	probably benign	0.40
R6284:Cul5	UTSW	9	53623735	missense	probably damaging	1.00
R6415:Cul5	UTSW	9	53646683	missense	probably benign	0.00
R7178:Cul5	UTSW	9	53644526	missense	probably benign	0.01
R7511:Cul5	UTSW	9	53625969	missense	probably damaging	1.00
R7923:Cul5	UTSW	9	53624166	missense	probably benign	0.00
R7940:Cul5	UTSW	9	53623769	missense	probably benign	0.21
R8481:Cul5	UTSW	9	53646823	missense	probably benign	0.00
R9483:Cul5	UTSW	9	53621174	missense	probably benign	0.10
X0018:Cul5	UTSW	9	53622929	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCCAAGAGTCACAATGATGG -3'
(R):5'- AAGTGGCTACTACCTCTTCCCG -3'

Sequencing Primer
(F):5'- TGGTCCCTTGAAAGCATCG -3'
(R):5'- TCTTCCCGGTCTGGTCGG -3'

Posted On

2014-08-25