Incidental Mutation 'R0930:Cul3'
ID 80708
Institutional Source Beutler Lab
Gene Symbol Cul3
Ensembl Gene ENSMUSG00000004364
Gene Name cullin 3
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0930 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 80242640-80318197 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 80267835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 102 (M102K)
Ref Sequence ENSEMBL: ENSMUSP00000131891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163119] [ENSMUST00000164108]
AlphaFold Q9JLV5
Predicted Effect probably benign
Transcript: ENSMUST00000163119
AA Change: M168K

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000130738
Gene: ENSMUSG00000004364
AA Change: M168K

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000164108
AA Change: M102K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131891
Gene: ENSMUSG00000004364
AA Change: M102K

DomainStartEndE-ValueType
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: ENSMUST00000167293
SMART Domains Protein: ENSMUSP00000126630
Gene: ENSMUSG00000004364

DomainStartEndE-ValueType
Pfam:Cullin 24 85 5.8e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170897
SMART Domains Protein: ENSMUSP00000130010
Gene: ENSMUSG00000004364

DomainStartEndE-ValueType
PDB:4AP2|B 2 45 1e-24 PDB
Meta Mutation Damage Score 0.9501 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.5%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 G T 17: 84,990,705 (GRCm39) V16L probably benign Het
Adamts18 A T 8: 114,432,028 (GRCm39) probably null Het
Agpat4 A T 17: 12,417,723 (GRCm39) E88V probably damaging Het
Ahcyl2 A C 6: 29,870,627 (GRCm39) probably null Het
Ankrd2 T A 19: 42,032,292 (GRCm39) probably null Het
Anxa6 A T 11: 54,885,214 (GRCm39) probably null Het
Bpi A G 2: 158,103,346 (GRCm39) I114V possibly damaging Het
Cacna1c A T 6: 118,652,857 (GRCm39) I772N probably damaging Het
Cacna2d1 A G 5: 16,570,860 (GRCm39) N1045D possibly damaging Het
Caprin2 T C 6: 148,785,009 (GRCm39) probably null Het
Cars1 T A 7: 143,124,307 (GRCm39) H373L probably damaging Het
Ccdc191 G T 16: 43,751,618 (GRCm39) G316V probably damaging Het
Cd244a T A 1: 171,404,801 (GRCm39) probably null Het
Ces1a C T 8: 93,749,044 (GRCm39) D456N probably benign Het
Dact1 A G 12: 71,365,234 (GRCm39) R672G probably damaging Het
Dapk1 T C 13: 60,905,262 (GRCm39) F991L probably benign Het
Dlg5 G A 14: 24,185,645 (GRCm39) P1920L probably damaging Het
Eme2 G A 17: 25,111,892 (GRCm39) S263F probably damaging Het
Exosc4 A G 15: 76,211,734 (GRCm39) I14M probably benign Het
Ezr G A 17: 7,021,398 (GRCm39) R180* probably null Het
Fcgbpl1 A T 7: 27,839,555 (GRCm39) Y456F probably damaging Het
Fyb1 A T 15: 6,668,309 (GRCm39) I501F probably damaging Het
Hdac5 G T 11: 102,095,472 (GRCm39) P383Q probably benign Het
Hmx3 A T 7: 131,144,813 (GRCm39) H41L probably benign Het
Krt36 A G 11: 99,994,225 (GRCm39) F284S probably damaging Het
L1td1 A G 4: 98,625,862 (GRCm39) N686D probably damaging Het
Lsamp G A 16: 41,709,327 (GRCm39) G86S probably benign Het
Myh8 A G 11: 67,196,824 (GRCm39) E1819G possibly damaging Het
Myo7a A T 7: 97,747,463 (GRCm39) I129N probably damaging Het
Nckap1 A T 2: 80,384,593 (GRCm39) C114S probably benign Het
Nphp4 T G 4: 152,622,512 (GRCm39) L599R probably benign Het
Nrcam A G 12: 44,596,667 (GRCm39) I301V probably benign Het
Or6b2b A G 1: 92,419,127 (GRCm39) S117P possibly damaging Het
Os9 C T 10: 126,932,924 (GRCm39) R547Q probably damaging Het
Oxtr A T 6: 112,466,598 (GRCm39) probably null Het
Pgm2 A T 5: 64,269,490 (GRCm39) I526F possibly damaging Het
Plekho2 T C 9: 65,464,105 (GRCm39) D248G possibly damaging Het
Rab43 A T 6: 87,769,752 (GRCm39) Y151* probably null Het
Rbm19 A G 5: 120,264,269 (GRCm39) E343G probably benign Het
Rel A T 11: 23,692,439 (GRCm39) D531E probably benign Het
Rfx4 T A 10: 84,704,291 (GRCm39) V262E probably damaging Het
Ryr3 A G 2: 112,672,178 (GRCm39) L1431P probably damaging Het
Sdk2 A G 11: 113,729,271 (GRCm39) I1102T probably benign Het
Sema3d A C 5: 12,513,183 (GRCm39) D51A possibly damaging Het
Sh2d4a T A 8: 68,787,775 (GRCm39) F294I probably damaging Het
Slc3a1 A G 17: 85,367,171 (GRCm39) T453A probably benign Het
Sod1 A G 16: 90,022,071 (GRCm39) D93G probably benign Het
Sptan1 A G 2: 29,906,040 (GRCm39) N1662S probably damaging Het
Stxbp4 A C 11: 90,512,526 (GRCm39) M1R probably null Het
Tbc1d7 A T 13: 43,318,812 (GRCm39) Y108* probably null Het
Ticam1 A T 17: 56,577,226 (GRCm39) V623D unknown Het
Ticam1 A G 17: 56,578,687 (GRCm39) L136P probably damaging Het
Tjap1 A C 17: 46,569,455 (GRCm39) W512G possibly damaging Het
Unc80 A T 1: 66,549,800 (GRCm39) Q686L possibly damaging Het
Wdr45b A T 11: 121,221,040 (GRCm39) F213I probably damaging Het
Xdh A C 17: 74,230,077 (GRCm39) W285G probably benign Het
Zfp646 C T 7: 127,482,982 (GRCm39) Q1500* probably null Het
Other mutations in Cul3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TGGTGCCCTTAAATTCTAGGTAACCAGA -3'
(R):5'- ACATGCCTTTCATACATGCAGCCTT -3'

Sequencing Primer
(F):5'- TTCTAGGTAACCAGAAAAAACAGTG -3'
(R):5'- GACATACATGTCAGGCATTTGCTG -3'
Posted On 2013-11-07