Incidental Mutation 'R0761:Cul3'
ID 70067
Institutional Source Beutler Lab
Gene Symbol Cul3
Ensembl Gene ENSMUSG00000004364
Gene Name cullin 3
Synonyms
MMRRC Submission 038941-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0761 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 80242640-80318197 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 80255203 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000163119] [ENSMUST00000164108]
AlphaFold Q9JLV5
Predicted Effect probably benign
Transcript: ENSMUST00000163119
SMART Domains Protein: ENSMUSP00000130738
Gene: ENSMUSG00000004364

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 benign
Transcript: ENSMUST00000164108
SMART Domains Protein: ENSMUSP00000131891
Gene: ENSMUSG00000004364

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 noncoding transcript
Transcript: ENSMUST00000167794
Predicted Effect probably benign
Transcript: ENSMUST00000168372
SMART Domains Protein: ENSMUSP00000132485
Gene: ENSMUSG00000004364

DomainStartEndE-ValueType
Cullin_Nedd8 38 105 3.28e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192839
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.7%
Validation Efficiency 100% (51/51)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,903,833 (GRCm39) Y133C probably benign Het
Adcy5 G A 16: 35,091,195 (GRCm39) probably benign Het
Asb17 A G 3: 153,550,052 (GRCm39) K28R probably damaging Het
Bbs10 G T 10: 111,135,244 (GRCm39) C119F probably damaging Het
Camk2g G A 14: 20,816,280 (GRCm39) Q119* probably null Het
Cdh18 A T 15: 23,226,838 (GRCm39) I46L possibly damaging Het
Cimip2a T C 2: 25,110,135 (GRCm39) probably benign Het
Clmn T A 12: 104,747,817 (GRCm39) N577Y probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Crocc T C 4: 140,774,387 (GRCm39) E63G probably benign Het
Crocc T C 4: 140,757,087 (GRCm39) T965A probably benign Het
Cryzl2 A G 1: 157,293,294 (GRCm39) I132V probably benign Het
Csgalnact2 T C 6: 118,103,073 (GRCm39) probably benign Het
Ctr9 T C 7: 110,645,479 (GRCm39) S569P probably damaging Het
Dcp2 G A 18: 44,543,300 (GRCm39) S286N probably benign Het
Dgkz C T 2: 91,775,696 (GRCm39) R189H probably benign Het
Dst A G 1: 34,221,848 (GRCm39) T2551A probably benign Het
Kcna4 T A 2: 107,126,417 (GRCm39) S384T probably benign Het
Klhl17 T C 4: 156,317,204 (GRCm39) probably null Het
Kmt2e C A 5: 23,708,032 (GRCm39) S1865* probably null Het
L3mbtl1 G A 2: 162,807,967 (GRCm39) R534H probably damaging Het
Lmnb2 A T 10: 80,742,088 (GRCm39) M1K probably null Het
Lrp1b T C 2: 41,075,947 (GRCm39) D1784G probably damaging Het
Lrrc34 A G 3: 30,685,425 (GRCm39) probably null Het
Megf10 C A 18: 57,421,048 (GRCm39) Y895* probably null Het
Mesd G T 7: 83,544,951 (GRCm39) A143S probably damaging Het
Mfap3l G T 8: 61,124,615 (GRCm39) V286L possibly damaging Het
Mroh2a G A 1: 88,171,672 (GRCm39) R770Q probably damaging Het
Nek1 T A 8: 61,542,489 (GRCm39) D717E probably benign Het
Nudt12 A T 17: 59,318,064 (GRCm39) D60E probably benign Het
Nup205 C T 6: 35,173,363 (GRCm39) probably benign Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Or2j3 A T 17: 38,616,282 (GRCm39) H23Q probably benign Het
Or4a75 T C 2: 89,448,179 (GRCm39) D119G probably damaging Het
Or5w19 C T 2: 87,698,880 (GRCm39) P182S possibly damaging Het
Pacs2 T A 12: 113,023,688 (GRCm39) probably benign Het
Pcdha9 T A 18: 37,133,016 (GRCm39) L695* probably null Het
Pira12 A T 7: 3,896,978 (GRCm39) probably null Het
Pkd1l1 A G 11: 8,804,375 (GRCm39) S1739P probably damaging Het
Polr1e C A 4: 45,027,392 (GRCm39) D207E probably damaging Het
Polr3f T A 2: 144,376,327 (GRCm39) V142E probably damaging Het
Psma6 T A 12: 55,459,127 (GRCm39) W170R possibly damaging Het
Rev3l T C 10: 39,750,191 (GRCm39) Y3114H probably benign Het
Rps6ka5 C T 12: 100,537,141 (GRCm39) A530T probably damaging Het
Simc1 T C 13: 54,674,387 (GRCm39) Y912H probably damaging Het
Tnfrsf1b T C 4: 144,942,670 (GRCm39) D371G possibly damaging Het
Trank1 T C 9: 111,195,681 (GRCm39) V1235A probably damaging Het
Ttn T C 2: 76,577,102 (GRCm39) E24597G probably damaging Het
Ubr2 G A 17: 47,294,242 (GRCm39) P297L probably damaging Het
Unc5d A T 8: 29,186,560 (GRCm39) probably null Het
Xpo4 A G 14: 57,850,840 (GRCm39) F355L probably damaging 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
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
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'- AGCAATGGGGTGTCTGGCTTAATC -3'
(R):5'- AAGAGTGCCAGTGCCCTCTTTTC -3'

Sequencing Primer
(F):5'- GGTGTCTGGCTTAATCTTAGAAATAC -3'
(R):5'- TCACTGCCATAGGATAGGCTG -3'
Posted On 2013-09-30