Mutagenetix > Incidental Mutation

Incidental Mutation 'R4908:Cul3'

379149

Institutional Source

Beutler Lab

Gene Symbol

Cul3

Ensembl Gene

ENSMUSG00000004364

Gene Name

cullin 3

Synonyms

MMRRC Submission

042510-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4908 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80242640-80318197 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80258632 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 468 (S468L)

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

possibly damaging
Transcript: ENSMUST00000163119
AA Change: S468L

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130738
Gene: ENSMUSG00000004364
AA Change: S468L

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: S402L

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000131891
Gene: ENSMUSG00000004364
AA Change: S402L

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

noncoding transcript
Transcript: ENSMUST00000167794

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192839

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.0%

Validation Efficiency

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059G10Rik	T	A	9: 122,778,008 (GRCm39)	I79L	probably benign	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Acaa1a	G	A	9: 119,177,772 (GRCm39)	S218N	probably benign	Het
Acsm5	A	T	7: 119,137,314 (GRCm39)	I377F	probably damaging	Het
Ahnak2	T	C	12: 112,741,706 (GRCm39)	T789A	probably benign	Het
Ak9	A	T	10: 41,296,678 (GRCm39)	T1475S	unknown	Het
AU040320	A	T	4: 126,747,081 (GRCm39)	N1028Y	probably damaging	Het
Bahcc1	T	A	11: 120,178,580 (GRCm39)	S2380T	probably benign	Het
Cadps	A	G	14: 12,536,386 (GRCm38)	Y525H	probably damaging	Het
Casp8ap2	A	G	4: 32,639,905 (GRCm39)	T320A	possibly damaging	Het
Ccdc138	A	G	10: 58,380,817 (GRCm39)	N483D	possibly damaging	Het
Ccdc39	G	A	3: 33,893,242 (GRCm39)		probably null	Het
Cd300c2	T	C	11: 114,887,772 (GRCm39)	N210S	probably damaging	Het
Cd84	A	G	1: 171,700,432 (GRCm39)	D183G	probably damaging	Het
Cep95	C	T	11: 106,702,172 (GRCm39)	P390S	probably damaging	Het
Chd9	A	T	8: 91,741,877 (GRCm39)	H1622L	possibly damaging	Het
Cilp	C	A	9: 65,185,302 (GRCm39)	Q466K	probably benign	Het
Cinp	T	A	12: 110,850,487 (GRCm39)	T5S	probably damaging	Het
Clec4a2	T	C	6: 123,119,462 (GRCm39)	L238S	probably damaging	Het
Cntrob	T	C	11: 69,211,732 (GRCm39)	Y164C	probably damaging	Het
Col6a3	A	G	1: 90,735,246 (GRCm39)	L1408P	probably damaging	Het
Dnah11	T	A	12: 118,090,618 (GRCm39)	D1081V	probably benign	Het
Dnah2	C	A	11: 69,411,973 (GRCm39)	V263L	probably benign	Het
Efna3	C	G	3: 89,222,805 (GRCm39)	R185P	probably damaging	Het
F5	A	T	1: 164,039,389 (GRCm39)	I2000F	probably damaging	Het
Fancm	G	A	12: 65,141,645 (GRCm39)	G422E	probably benign	Het
Gcnt2	A	T	13: 41,014,210 (GRCm39)	D127V	probably damaging	Het
Gm21798	G	T	15: 64,689,618 (GRCm39)		probably benign	Het
Gramd1a	A	C	7: 30,838,292 (GRCm39)	S320R	probably benign	Het
Grn	T	C	11: 102,327,344 (GRCm39)		probably benign	Het
Helq	A	T	5: 100,910,507 (GRCm39)		probably null	Het
Herc2	A	G	7: 55,827,660 (GRCm39)	I2914V	probably benign	Het
Hnrnph1	T	C	11: 50,269,237 (GRCm39)	V27A	probably damaging	Het
Hs1bp3	G	T	12: 8,374,007 (GRCm39)	G182C	probably damaging	Het
Idnk	C	T	13: 58,311,267 (GRCm39)	P78L	probably benign	Het
Il10ra	T	C	9: 45,166,919 (GRCm39)	D544G	probably benign	Het
Inpp5e	T	C	2: 26,290,918 (GRCm39)	D383G	probably damaging	Het
Jak1	A	T	4: 101,036,911 (GRCm39)	V243D	probably damaging	Het
Kcnma1	A	T	14: 23,359,220 (GRCm39)	S1036T	probably damaging	Het
Kif26a	G	A	12: 112,123,776 (GRCm39)	C127Y	probably damaging	Het
Kif2c	T	C	4: 117,023,608 (GRCm39)	E368G	probably damaging	Het
Lasp1	T	A	11: 97,724,530 (GRCm39)		probably null	Het
Lcor	T	A	19: 41,572,601 (GRCm39)	V452D	probably benign	Het
Lrrtm1	C	G	6: 77,221,661 (GRCm39)	H373D	probably benign	Het
Matr3	T	A	18: 35,705,754 (GRCm39)	D226E	probably damaging	Het
Mmp17	G	A	5: 129,682,730 (GRCm39)	W456*	probably null	Het
Mpp4	T	C	1: 59,164,748 (GRCm39)	E463G	probably damaging	Het
Myh6	A	C	14: 55,194,419 (GRCm39)	F737V	probably damaging	Het
Nars2	T	A	7: 96,672,948 (GRCm39)	D271E	probably benign	Het
Nav2	A	G	7: 49,254,258 (GRCm39)	E2352G	probably damaging	Het
Nckap1	A	G	2: 80,353,718 (GRCm39)		probably null	Het
Nckap5	A	T	1: 125,955,324 (GRCm39)	S477R	probably damaging	Het
Nek11	T	G	9: 105,175,488 (GRCm39)	I319L	probably benign	Het
Neto2	A	G	8: 86,396,393 (GRCm39)	I84T	probably damaging	Het
Nlrp9a	A	T	7: 26,250,369 (GRCm39)	I45F	probably damaging	Het
Numa1	G	A	7: 101,662,012 (GRCm39)	R548H	probably damaging	Het
Or10a5	A	C	7: 106,635,364 (GRCm39)	M1L	probably benign	Het
Or14c39	A	C	7: 86,344,395 (GRCm39)	I244L	probably benign	Het
Or2ag1b	A	T	7: 106,288,740 (GRCm39)	L66H	probably damaging	Het
Or4c10	A	T	2: 89,760,923 (GRCm39)	M257L	probably benign	Het
Or4c100	T	A	2: 88,356,254 (GRCm39)	I109N	probably damaging	Het
Or4k36	T	A	2: 111,146,574 (GRCm39)	F250Y	probably benign	Het
Or7g25	A	G	9: 19,160,149 (GRCm39)	V182A	probably benign	Het
Or9m1	A	T	2: 87,733,533 (GRCm39)	N162K	probably damaging	Het
Pcdhb16	T	A	18: 37,612,894 (GRCm39)		probably null	Het
Pdcd10	T	C	3: 75,448,553 (GRCm39)	T4A	probably damaging	Het
Pgc	A	T	17: 48,039,819 (GRCm39)	Y71F	probably damaging	Het
Phlpp1	G	A	1: 106,317,481 (GRCm39)	G1234E	probably damaging	Het
Prr27	T	C	5: 87,990,888 (GRCm39)	F167L	probably benign	Het
Prrc2b	T	A	2: 32,116,330 (GRCm39)	S1421T	possibly damaging	Het
Pxmp2	A	G	5: 110,431,518 (GRCm39)	V75A	probably benign	Het
Pygl	A	T	12: 70,243,807 (GRCm39)	M545K	probably null	Het
Ranbp9	A	G	13: 43,574,733 (GRCm39)	Y412H	possibly damaging	Het
Rcc1	A	G	4: 132,065,064 (GRCm39)	V140A	probably damaging	Het
Reln	A	G	5: 22,184,718 (GRCm39)	V1599A	probably benign	Het
Rhebl1	A	T	15: 98,776,903 (GRCm39)	D122E	probably damaging	Het
Rock2	C	T	12: 17,009,492 (GRCm39)	L676F	probably benign	Het
Scn9a	A	T	2: 66,357,087 (GRCm39)	D1062E	probably benign	Het
Sec63	T	C	10: 42,681,186 (GRCm39)	I390T	probably damaging	Het
Slc10a6	T	C	5: 103,754,493 (GRCm39)	E346G	probably benign	Het
Slc12a3	G	A	8: 95,075,216 (GRCm39)	V737M	possibly damaging	Het
Slc12a8	T	C	16: 33,426,629 (GRCm39)		probably null	Het
Slc25a38	T	A	9: 119,949,354 (GRCm39)	I102N	probably damaging	Het
Spg7	T	A	8: 123,807,394 (GRCm39)	V390E	probably damaging	Het
Tbc1d20	T	C	2: 152,144,228 (GRCm39)	V75A	probably benign	Het
Tesk1	T	A	4: 43,445,555 (GRCm39)	C243*	probably null	Het
Ttk	T	A	9: 83,725,739 (GRCm39)	N220K	possibly damaging	Het
Ttll5	A	G	12: 85,965,948 (GRCm39)	E651G	probably benign	Het
Tubd1	T	C	11: 86,457,879 (GRCm39)	Y426H	probably damaging	Het
Uba6	T	C	5: 86,288,293 (GRCm39)		silent	Het
Ube2ql1	G	A	13: 69,852,289 (GRCm39)	R263W	probably damaging	Het
Vmn2r117	C	T	17: 23,678,812 (GRCm39)	G804D	probably damaging	Het
Vmn2r25	C	T	6: 123,805,406 (GRCm39)	E484K	probably benign	Het
Vmn2r4	T	A	3: 64,296,476 (GRCm39)	I770F	possibly damaging	Het
Vmn2r82	G	A	10: 79,214,589 (GRCm39)	V191M	probably benign	Het
Zbtb45	C	T	7: 12,742,037 (GRCm39)	V74M	probably damaging	Het
Zfp366	T	C	13: 99,370,609 (GRCm39)	V443A	possibly damaging	Het
Zfyve1	A	T	12: 83,598,345 (GRCm39)	C628S	probably damaging	Het
Zfyve26	A	T	12: 79,296,469 (GRCm39)		probably null	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
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
R7774:Cul3	UTSW	1	80,247,011 (GRCm39)	missense	probably benign
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'- GGGCTCCCCTTTTCTGAAAAG -3'
(R):5'- ACTTTCCCTGGAGTATATTGGGATC -3'

Sequencing Primer
(F):5'- TTTTCTGAAAAGAAAGGGAAGAGG -3'
(R):5'- TCTGGACGAGCCTAGAAATTATG -3'

Posted On

2016-04-15