Mutagenetix > Incidental Mutation

Incidental Mutation 'R1572:Cul3'

170807

Institutional Source

Beutler Lab

Gene Symbol

Cul3

Ensembl Gene

ENSMUSG00000004364

Gene Name

cullin 3

Synonyms

MMRRC Submission

039611-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1572 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80264923-80340480 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80282789 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 281 (D281G)

Ref Sequence

ENSEMBL: ENSMUSP00000131891 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163119] [ENSMUST00000164108]

AlphaFold

Q9JLV5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163119
AA Change: D347G

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130738
Gene: ENSMUSG00000004364
AA Change: D347G

Domain	Start	End	E-Value	Type
PDB:4AP2\|B	1	389	N/A	PDB
SCOP:d1ldja2	30	382	1e-117	SMART
Blast:CULLIN	258	295	2e-15	BLAST
CULLIN	413	563	1.98e-90	SMART
Cullin_Nedd8	695	762	1.49e-36	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164108
AA Change: D281G

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131891
Gene: ENSMUSG00000004364
AA Change: D281G

Domain	Start	End	E-Value	Type
SCOP:d1ldja2	23	316	1e-101	SMART
PDB:4APF\|B	23	323	N/A	PDB
Blast:CULLIN	192	229	1e-15	BLAST
CULLIN	347	497	1.98e-90	SMART
Cullin_Nedd8	629	696	1.49e-36	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170897

SMART Domains

Protein: ENSMUSP00000130010
Gene: ENSMUSG00000004364

Domain	Start	End	E-Value	Type
PDB:4AP2\|B	2	45	1e-24	PDB

Meta Mutation Damage Score

0.5673

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 92.9%
20x: 80.7%

Validation Efficiency

97% (130/134)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cullin protein family. The encoded protein plays a critical role in the polyubiquitination and subsequent degradation of specific protein substrates as the core component and scaffold protein of an E3 ubiquitin ligase complex. Complexes including the encoded protein may also play a role in late endosome maturation. Mutations in this gene are a cause of type 2E pseudohypoaldosteronism. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygotes for a targeted null mutation accumulate cyclin E, exhibit abnormal cycling in cells of extraembryonic ectoderm and trophectoderm, reduced size, abnormal gastrulation and trophoblast cells, absence of an amnion, and death by embryonic day 7.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310030G06Rik	G	A	9: 50,740,673	T85M	probably damaging	Het
5430419D17Rik	T	A	7: 131,244,831	Y777*	probably null	Het
Actn1	A	G	12: 80,172,957		probably benign	Het
Afap1l1	A	T	18: 61,737,499	S603T	probably damaging	Het
Ahcy	T	C	2: 155,068,931	Y39C	probably benign	Het
Ankmy2	T	C	12: 36,186,942		probably null	Het
Anxa13	A	T	15: 58,348,807		noncoding transcript	Het
Aoc1	T	C	6: 48,905,786	S221P	possibly damaging	Het
Arhgef10	C	A	8: 14,991,211	A770D	possibly damaging	Het
Arhgef19	A	G	4: 141,254,754	D707G	probably benign	Het
Arhgef3	G	A	14: 27,401,735	R444H	probably damaging	Het
Asphd1	T	C	7: 126,949,099	I11V	probably benign	Het
Atp2b1	A	G	10: 98,994,675	M333V	probably benign	Het
BC051665	T	C	13: 60,785,027	Y40C	probably damaging	Het
Ccdc87	T	A	19: 4,840,313	S278T	probably benign	Het
Chaf1b	G	A	16: 93,901,230	G463D	possibly damaging	Het
Chrna4	T	C	2: 181,029,307	T219A	possibly damaging	Het
Clcnkb	T	G	4: 141,407,095	T584P	possibly damaging	Het
Clptm1l	T	C	13: 73,607,747	S161P	probably benign	Het
Cmya5	T	C	13: 93,094,269	E1437G	possibly damaging	Het
Col13a1	A	T	10: 61,866,426		probably null	Het
Col3a1	T	C	1: 45,345,968	S82P	possibly damaging	Het
Cpeb3	A	T	19: 37,139,082	M383K	probably benign	Het
Cr2	T	A	1: 195,163,314	H111L	probably damaging	Het
Cttnbp2	T	C	6: 18,375,975	S1522G	possibly damaging	Het
Cyp2c70	T	G	19: 40,183,982	K72T	probably benign	Het
Cyp39a1	A	T	17: 43,680,129	I110F	probably damaging	Het
Cyp46a1	T	A	12: 108,351,939	M203K	probably null	Het
Cyp8b1	A	T	9: 121,914,958	V436D	possibly damaging	Het
Ddx17	T	C	15: 79,538,565	D324G	probably damaging	Het
Dopey2	A	G	16: 93,770,153	N1274S	probably damaging	Het
Dscaml1	G	A	9: 45,721,333	V1166I	probably benign	Het
Dsp	T	C	13: 38,195,738	V1554A	probably damaging	Het
Dusp27	C	T	1: 166,099,455	V863M	possibly damaging	Het
Efr3a	T	A	15: 65,854,792		probably null	Het
Egfem1	A	T	3: 29,648,271	N223I	probably benign	Het
Egr2	T	C	10: 67,539,975	S147P	probably damaging	Het
Elmo3	A	G	8: 105,308,301	T408A	probably benign	Het
Flnb	A	G	14: 7,883,908	D378G	probably damaging	Het
Foxj2	T	A	6: 122,833,261	M193K	probably benign	Het
Gm6327	A	G	16: 12,760,156		noncoding transcript	Het
Gm7694	T	C	1: 170,302,766	H21R	probably benign	Het
Gpr107	A	G	2: 31,167,025	D43G	probably damaging	Het
Grid2	T	A	6: 64,429,694	Y679*	probably null	Het
Grin2c	G	A	11: 115,256,074	P432S	possibly damaging	Het
H2-M10.1	A	G	17: 36,325,733	F60L	possibly damaging	Het
Hectd4	A	G	5: 121,301,878	D1147G	possibly damaging	Het
Idua	G	T	5: 108,680,589	A223S	probably benign	Het
Ifi206	T	C	1: 173,486,853	Q7R	probably benign	Het
Itgad	T	A	7: 128,203,234	V986E	probably damaging	Het
Itsn2	G	A	12: 4,650,044	R670H	probably benign	Het
Kdm4a	T	C	4: 118,138,949	E961G	possibly damaging	Het
Klra5	T	A	6: 129,906,622	I91L	probably damaging	Het
Kntc1	A	G	5: 123,772,113	T525A	probably damaging	Het
Lct	A	G	1: 128,294,195	F1536L	probably benign	Het
Lmod1	T	A	1: 135,363,933	D175E	probably benign	Het
Lonrf1	A	C	8: 36,233,972	D361E	probably benign	Het
Lrrc19	T	C	4: 94,638,429	Y297C	probably damaging	Het
Mast4	T	C	13: 102,736,923	E1787G	possibly damaging	Het
Mpp2	G	A	11: 102,060,548	A452V	probably benign	Het
Msh2	T	C	17: 87,718,652	V686A	possibly damaging	Het
Mthfd1	C	T	12: 76,270,419	Q15*	probably null	Het
Mtnr1b	A	T	9: 15,863,142	I207N	probably damaging	Het
Nid2	A	G	14: 19,805,412	T1207A	probably benign	Het
Nin	A	T	12: 70,038,750	V1569D	probably damaging	Het
Nov	T	A	15: 54,749,252	M219K	possibly damaging	Het
Nrcam	T	A	12: 44,537,364		probably benign	Het
Nsd1	T	A	13: 55,246,969	H897Q	probably damaging	Het
Olfr102	A	T	17: 37,313,480	N301K	probably benign	Het
Olfr1364	T	A	13: 21,574,310	I49F	possibly damaging	Het
Olfr77	G	T	9: 19,920,912	K234N	probably benign	Het
Olfr979	A	G	9: 40,001,194	F11S	probably benign	Het
Paip1	T	C	13: 119,451,784		probably benign	Het
Pcnx3	G	A	19: 5,685,347	R484*	probably null	Het
Pdxk	A	G	10: 78,447,980	Y127H	probably damaging	Het
Phf20	T	A	2: 156,287,834	V442E	probably benign	Het
Phlpp1	G	A	1: 106,392,789	D1505N	probably damaging	Het
Pkhd1	T	C	1: 20,347,440	T2496A	probably benign	Het
Pkhd1l1	A	G	15: 44,543,473	T2369A	probably benign	Het
Plod2	T	A	9: 92,603,067		probably benign	Het
Pnpla7	T	A	2: 25,015,251	M617K	possibly damaging	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Prkch	T	A	12: 73,649,357		probably null	Het
Prr12	G	A	7: 45,028,800	H1974Y	unknown	Het
Prr16	A	G	18: 51,302,970	I174V	probably benign	Het
Prss45	A	T	9: 110,838,429	T39S	probably benign	Het
Pum1	T	A	4: 130,718,204	D161E	probably damaging	Het
Rad51ap2	A	G	12: 11,457,112	D345G	probably damaging	Het
Ralgapb	A	G	2: 158,446,199		probably benign	Het
Rasgrp3	A	G	17: 75,500,734	H262R	possibly damaging	Het
Rnf213	T	A	11: 119,436,611	I1809N	probably damaging	Het
Ryr1	A	G	7: 29,062,191	L3177P	probably damaging	Het
Scyl2	C	A	10: 89,650,956	R230L	probably damaging	Het
Sfxn2	T	C	19: 46,582,476		probably benign	Het
Slc18b1	T	C	10: 23,798,741		probably benign	Het
Spata31d1d	T	C	13: 59,728,191	H510R	probably benign	Het
Stab1	A	T	14: 31,150,823	N1109K	probably damaging	Het
Sult3a2	A	G	10: 33,781,977	S47P	probably damaging	Het
Tenm3	T	C	8: 48,228,993	N2518S	possibly damaging	Het
Tex21	G	T	12: 76,206,891	P416Q	probably benign	Het
Tex38	T	C	4: 115,780,306	N100S	probably benign	Het
Thsd4	A	C	9: 60,394,553		probably benign	Het
Ticrr	T	C	7: 79,681,824	V723A	probably damaging	Het
Tmprss15	A	G	16: 79,090,829	V30A	probably benign	Het
Uba3	A	G	6: 97,185,337		probably benign	Het
Ubr1	T	C	2: 120,935,319		probably benign	Het
Uchl4	A	T	9: 64,235,731	I165L	probably benign	Het
Vmn2r112	A	T	17: 22,603,144	T268S	possibly damaging	Het
Wfdc3	T	C	2: 164,744,194		probably benign	Het
Zfp282	T	A	6: 47,892,867	L282Q	probably damaging	Het
Zfp422	A	T	6: 116,626,784	C85S	probably damaging	Het
Zfp790	A	T	7: 29,828,139	Q83L	probably benign	Het

Other mutations in Cul3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00558:Cul3	APN	1	80288740	splice site	probably benign
IGL01454:Cul3	APN	1	80304183	missense	probably damaging	0.97
IGL01510:Cul3	APN	1	80282679	missense	probably damaging	1.00
IGL01701:Cul3	APN	1	80277423	missense	probably damaging	0.97
IGL02117:Cul3	APN	1	80323064	splice site	probably benign
IGL02194:Cul3	APN	1	80323037	missense	probably benign	0.03
IGL02217:Cul3	APN	1	80283767	missense	probably damaging	0.97
IGL02417:Cul3	APN	1	80322902	missense	probably damaging	1.00
IGL02445:Cul3	APN	1	80304169	missense	possibly damaging	0.74
IGL02601:Cul3	APN	1	80271715	intron	probably benign
IGL03201:Cul3	APN	1	80281427	missense	probably damaging	1.00
R0467:Cul3	UTSW	1	80280863	missense	probably benign	0.01
R0662:Cul3	UTSW	1	80271565	missense	probably damaging	1.00
R0688:Cul3	UTSW	1	80271564	missense	possibly damaging	0.63
R0761:Cul3	UTSW	1	80277486	unclassified	probably benign
R0924:Cul3	UTSW	1	80290118	missense	probably damaging	0.99
R0930:Cul3	UTSW	1	80290118	missense	probably damaging	0.99
R0940:Cul3	UTSW	1	80322847	intron	probably benign
R1117:Cul3	UTSW	1	80280924	missense	probably damaging	1.00
R2384:Cul3	UTSW	1	80283689	missense	probably damaging	0.99
R3894:Cul3	UTSW	1	80283690	missense	probably damaging	0.97
R4676:Cul3	UTSW	1	80271674	missense	probably damaging	1.00
R4893:Cul3	UTSW	1	80288850	missense	probably damaging	0.98
R4908:Cul3	UTSW	1	80280915	missense	possibly damaging	0.91
R4910:Cul3	UTSW	1	80290089	missense	probably benign	0.09
R5173:Cul3	UTSW	1	80281416	missense	possibly damaging	0.94
R5787:Cul3	UTSW	1	80282721	missense	probably benign	0.13
R5887:Cul3	UTSW	1	80276422	missense	possibly damaging	0.94
R6057:Cul3	UTSW	1	80271532	missense	probably damaging	1.00
R6066:Cul3	UTSW	1	80283759	missense	probably benign	0.06
R6279:Cul3	UTSW	1	80286952	missense	probably damaging	0.98
R6300:Cul3	UTSW	1	80286952	missense	probably damaging	0.98
R6617:Cul3	UTSW	1	80276439	missense	probably damaging	1.00
R7059:Cul3	UTSW	1	80276424	missense	probably benign	0.00
R7223:Cul3	UTSW	1	80287000	missense	probably benign	0.14
R7774:Cul3	UTSW	1	80269294	missense	probably benign
R7958:Cul3	UTSW	1	80271557	missense	probably benign	0.11
R9494:Cul3	UTSW	1	80277452	missense	probably damaging	1.00
R9544:Cul3	UTSW	1	80280859	missense	probably damaging	0.97
Z1088:Cul3	UTSW	1	80290091	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- CACTGAGGAGGACAATCTAACGCAC -3'
(R):5'- TACATGCAGAGCCATCCCTTGGAC -3'

Sequencing Primer
(F):5'- GGACAATCTAACGCACTTTAGATGG -3'
(R):5'- CTTGGACCCTGTTGTATTTCTG -3'

Posted On

2014-04-13