Mutagenetix > Incidental Mutation

Incidental Mutation 'R7774:Cul3'

598739

Institutional Source

Beutler Lab

Gene Symbol

Cul3

Ensembl Gene

ENSMUSG00000004364

Gene Name

cullin 3

Synonyms

MMRRC Submission

045830-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7774 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80242640-80318197 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 80247011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 697 (D697E)

Ref Sequence

ENSEMBL: ENSMUSP00000130738 (fasta)

Gene Model

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

AlphaFold

Q9JLV5

PDB Structure

Solution structure of the cullin-3 homologue [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000163119
AA Change: D697E

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

SMART Domains

Protein: ENSMUSP00000130738
Gene: ENSMUSG00000004364
AA Change: D697E

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

probably benign
Transcript: ENSMUST00000164108
AA Change: D631E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000131891
Gene: ENSMUSG00000004364
AA Change: D631E

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: ENSMUST00000168372

SMART Domains

Protein: ENSMUSP00000132485
Gene: ENSMUSG00000004364

Domain	Start	End	E-Value	Type
Cullin_Nedd8	38	105	3.28e-6	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	G	T	15: 98,494,414 (GRCm39)	T809N	probably benign	Het
Adgb	C	A	10: 10,215,404 (GRCm39)	E1561*	probably null	Het
Adgra1	A	T	7: 139,427,628 (GRCm39)	H65L	possibly damaging	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
Atrnl1	G	T	19: 57,688,103 (GRCm39)	G856V	probably damaging	Het
Cc2d2b	A	G	19: 40,754,161 (GRCm39)	K177E	unknown	Het
Ccdc122	T	C	14: 77,305,379 (GRCm39)	V11A	probably benign	Het
Clasp2	T	A	9: 113,677,804 (GRCm39)		probably null	Het
Col6a1	T	C	10: 76,545,710 (GRCm39)	T921A	unknown	Het
Defa34	G	A	8: 22,155,978 (GRCm39)	E56K	probably benign	Het
Dhrs7c	A	G	11: 67,700,641 (GRCm39)	R63G	probably damaging	Het
Dnaaf11	T	G	15: 66,321,401 (GRCm39)	I247L	probably benign	Het
Dnah3	T	A	7: 119,550,975 (GRCm39)	K136*	probably null	Het
Exoc7	T	C	11: 116,186,142 (GRCm39)	D353G	possibly damaging	Het
Fbxw21	T	C	9: 108,972,908 (GRCm39)	Y342C	probably benign	Het
Fitm2	T	A	2: 163,311,986 (GRCm39)	I76F	probably damaging	Het
Fryl	A	T	5: 73,240,727 (GRCm39)	I1291N	probably benign	Het
Fzd2	A	T	11: 102,496,314 (GRCm39)	I253F	possibly damaging	Het
Gm5592	A	T	7: 40,939,283 (GRCm39)	Y855F	probably damaging	Het
H1f6	A	G	13: 23,880,183 (GRCm39)	K112R	possibly damaging	Het
H4c16	G	T	6: 136,781,281 (GRCm39)	P33T	possibly damaging	Het
Helz2	T	C	2: 180,875,784 (GRCm39)	Y1570C	probably benign	Het
Ints11	A	G	4: 155,970,140 (GRCm39)	T228A	probably benign	Het
Ipo13	G	T	4: 117,771,494 (GRCm39)	N25K	probably benign	Het
Itga9	T	A	9: 118,700,968 (GRCm39)	I917N	probably damaging	Het
Krt39	T	C	11: 99,405,437 (GRCm39)		probably null	Het
Krtap13-1	C	T	16: 88,526,061 (GRCm39)	T95I	possibly damaging	Het
Ldlrad4	G	T	18: 68,368,863 (GRCm39)	E107*	probably null	Het
Ly6a	A	T	15: 74,869,416 (GRCm39)	I13N	probably damaging	Het
Mfsd4b4	T	C	10: 39,768,407 (GRCm39)	T275A	probably benign	Het
Mgat3	C	T	15: 80,095,743 (GRCm39)	T190M	probably damaging	Het
Muc5b	G	A	7: 141,396,116 (GRCm39)	R124H	unknown	Het
Mucl1	G	T	15: 103,783,950 (GRCm39)	N85K	possibly damaging	Het
Nifk	G	A	1: 118,255,391 (GRCm39)	E96K	possibly damaging	Het
Opn3	C	T	1: 175,490,471 (GRCm39)	V397M	probably damaging	Het
Or52ad1	T	C	7: 102,995,737 (GRCm39)	R133G	possibly damaging	Het
Or5ae1	T	A	7: 84,565,739 (GRCm39)	F251I	probably damaging	Het
Or8c17	T	C	9: 38,180,655 (GRCm39)	V274A	probably damaging	Het
Pcdha2	A	G	18: 37,074,579 (GRCm39)	M737V	probably benign	Het
Pdk4	T	A	6: 5,492,757 (GRCm39)	D98V	possibly damaging	Het
Pkhd1l1	A	G	15: 44,404,303 (GRCm39)	T2311A	probably benign	Het
Pla2r1	A	T	2: 60,360,802 (GRCm39)	C195*	probably null	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Pramel23	C	T	4: 143,423,676 (GRCm39)	S371N	possibly damaging	Het
Ptprq	T	C	10: 107,479,530 (GRCm39)	T1166A	probably damaging	Het
Ran	G	A	5: 129,099,874 (GRCm39)	D215N	probably benign	Het
Rb1cc1	T	C	1: 6,318,309 (GRCm39)	F604L	possibly damaging	Het
Rgl1	T	A	1: 152,430,101 (GRCm39)	E227D	probably benign	Het
Sec24b	C	A	3: 129,777,846 (GRCm39)	R1204L	possibly damaging	Het
Shroom3	T	C	5: 93,098,348 (GRCm39)	L1276P	probably damaging	Het
Smarcad1	T	A	6: 65,084,814 (GRCm39)	M820K	probably damaging	Het
Sptbn1	A	T	11: 30,092,142 (GRCm39)	M541K	probably damaging	Het
Tcp11l2	T	C	10: 84,440,847 (GRCm39)	V351A	possibly damaging	Het
Tecpr2	A	G	12: 110,899,606 (GRCm39)	D658G	probably benign	Het
Tlr6	T	G	5: 65,110,728 (GRCm39)	E726D	probably damaging	Het
Tmem218	T	A	9: 37,133,864 (GRCm39)	H101Q	probably benign	Het
Tnfrsf4	C	T	4: 156,098,795 (GRCm39)	Q82*	probably null	Het
Trpm7	A	G	2: 126,655,158 (GRCm39)	V1260A	probably benign	Het
Trpm8	A	T	1: 88,258,563 (GRCm39)	E282V	probably damaging	Het
Tuba8	T	C	6: 121,200,348 (GRCm39)	V344A	probably damaging	Het
Tvp23a	A	G	16: 10,245,245 (GRCm39)		probably null	Het
Zfp174	G	A	16: 3,667,215 (GRCm39)	V135M	probably damaging	Het
Zfp418	G	A	7: 7,185,776 (GRCm39)	V580I	possibly damaging	Het
Zfp451	T	A	1: 33,844,474 (GRCm39)	E44D	probably benign	Het
Zfp521	T	C	18: 13,978,838 (GRCm39)	D525G	probably benign	Het

Other mutations in Cul3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00558:Cul3	APN	1	80,266,457 (GRCm39)	splice site	probably benign
IGL01454:Cul3	APN	1	80,281,900 (GRCm39)	missense	probably damaging	0.97
IGL01510:Cul3	APN	1	80,260,396 (GRCm39)	missense	probably damaging	1.00
IGL01701:Cul3	APN	1	80,255,140 (GRCm39)	missense	probably damaging	0.97
IGL02117:Cul3	APN	1	80,300,781 (GRCm39)	splice site	probably benign
IGL02194:Cul3	APN	1	80,300,754 (GRCm39)	missense	probably benign	0.03
IGL02217:Cul3	APN	1	80,261,484 (GRCm39)	missense	probably damaging	0.97
IGL02417:Cul3	APN	1	80,300,619 (GRCm39)	missense	probably damaging	1.00
IGL02445:Cul3	APN	1	80,281,886 (GRCm39)	missense	possibly damaging	0.74
IGL02601:Cul3	APN	1	80,249,432 (GRCm39)	intron	probably benign
IGL03201:Cul3	APN	1	80,259,144 (GRCm39)	missense	probably damaging	1.00
R0467:Cul3	UTSW	1	80,258,580 (GRCm39)	missense	probably benign	0.01
R0662:Cul3	UTSW	1	80,249,282 (GRCm39)	missense	probably damaging	1.00
R0688:Cul3	UTSW	1	80,249,281 (GRCm39)	missense	possibly damaging	0.63
R0761:Cul3	UTSW	1	80,255,203 (GRCm39)	unclassified	probably benign
R0924:Cul3	UTSW	1	80,267,835 (GRCm39)	missense	probably damaging	0.99
R0930:Cul3	UTSW	1	80,267,835 (GRCm39)	missense	probably damaging	0.99
R0940:Cul3	UTSW	1	80,300,564 (GRCm39)	intron	probably benign
R1117:Cul3	UTSW	1	80,258,641 (GRCm39)	missense	probably damaging	1.00
R1572:Cul3	UTSW	1	80,260,506 (GRCm39)	missense	possibly damaging	0.91
R2384:Cul3	UTSW	1	80,261,406 (GRCm39)	missense	probably damaging	0.99
R3894:Cul3	UTSW	1	80,261,407 (GRCm39)	missense	probably damaging	0.97
R4676:Cul3	UTSW	1	80,249,391 (GRCm39)	missense	probably damaging	1.00
R4893:Cul3	UTSW	1	80,266,567 (GRCm39)	missense	probably damaging	0.98
R4908:Cul3	UTSW	1	80,258,632 (GRCm39)	missense	possibly damaging	0.91
R4910:Cul3	UTSW	1	80,267,806 (GRCm39)	missense	probably benign	0.09
R5173:Cul3	UTSW	1	80,259,133 (GRCm39)	missense	possibly damaging	0.94
R5787:Cul3	UTSW	1	80,260,438 (GRCm39)	missense	probably benign	0.13
R5887:Cul3	UTSW	1	80,254,139 (GRCm39)	missense	possibly damaging	0.94
R6057:Cul3	UTSW	1	80,249,249 (GRCm39)	missense	probably damaging	1.00
R6066:Cul3	UTSW	1	80,261,476 (GRCm39)	missense	probably benign	0.06
R6279:Cul3	UTSW	1	80,264,669 (GRCm39)	missense	probably damaging	0.98
R6300:Cul3	UTSW	1	80,264,669 (GRCm39)	missense	probably damaging	0.98
R6617:Cul3	UTSW	1	80,254,156 (GRCm39)	missense	probably damaging	1.00
R7059:Cul3	UTSW	1	80,254,141 (GRCm39)	missense	probably benign	0.00
R7223:Cul3	UTSW	1	80,264,717 (GRCm39)	missense	probably benign	0.14
R7958:Cul3	UTSW	1	80,249,274 (GRCm39)	missense	probably benign	0.11
R9494:Cul3	UTSW	1	80,255,169 (GRCm39)	missense	probably damaging	1.00
R9544:Cul3	UTSW	1	80,258,576 (GRCm39)	missense	probably damaging	0.97
Z1088:Cul3	UTSW	1	80,267,808 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- TTCCCTAAGTTACGTTAAGAAGCTC -3'
(R):5'- GTGTGCATACTCTAATTGAGATGG -3'

Sequencing Primer
(F):5'- TGACCCAAGCTTCAAGTG -3'
(R):5'- GAGATGGATTTTTTTCCCTCT -3'

Posted On

2019-11-26