Incidental Mutation 'R3850:Cul5'
ID 275884
Institutional Source Beutler Lab
Gene Symbol Cul5
Ensembl Gene ENSMUSG00000032030
Gene Name cullin 5
Synonyms VACM-1, C030032G03Rik, 4921514I20Rik, C330021I08Rik, 8430423K24Rik
MMRRC Submission 040898-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3850 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 53525881-53578807 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 53529286 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 800 (M800L)
Ref Sequence ENSEMBL: ENSMUSP00000034529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034529] [ENSMUST00000120122] [ENSMUST00000166367]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000034529
AA Change: M800L

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000034529
Gene: ENSMUSG00000032030
AA Change: M800L

DomainStartEndE-ValueType
PDB:2WZK|A 76 461 N/A PDB
SCOP:d1ldja2 91 459 1e-109 SMART
CULLIN 510 661 1.12e-80 SMART
Cullin_Nedd8 782 849 5.12e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120122
AA Change: M596L

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113490
Gene: ENSMUSG00000032030
AA Change: M596L

DomainStartEndE-ValueType
PDB:4JGH|D 1 258 N/A PDB
SCOP:d1ldja2 5 255 2e-75 SMART
CULLIN 306 457 1.12e-80 SMART
Cullin_Nedd8 578 645 5.12e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141803
Predicted Effect probably benign
Transcript: ENSMUST00000166367
AA Change: M773L

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000133144
Gene: ENSMUSG00000032030
AA Change: M773L

DomainStartEndE-ValueType
PDB:2WZK|A 76 434 N/A PDB
SCOP:d1ldja2 91 432 9e-99 SMART
CULLIN 483 634 1.12e-80 SMART
Cullin_Nedd8 755 822 5.12e-17 SMART
Meta Mutation Damage Score 0.1610 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (59/59)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit complete embryonic lethality. Mice heterozygous for a null allele exhibit decreased susceptibility to LPS-induced lung injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 C T 4: 53,061,481 (GRCm39) probably benign Het
Abcc5 A T 16: 20,190,906 (GRCm39) S815T probably benign Het
Adamts17 T A 7: 66,490,215 (GRCm39) L99Q possibly damaging Het
Adamtsl1 A T 4: 86,336,783 (GRCm39) Q1564L probably damaging Het
Als2cl A G 9: 110,718,377 (GRCm39) probably benign Het
Antxrl C A 14: 33,789,338 (GRCm39) H309Q probably benign Het
Ap1g2 T C 14: 55,342,363 (GRCm39) M165V probably benign Het
Cacna2d3 A G 14: 29,069,077 (GRCm39) probably null Het
Cdh16 T C 8: 105,344,473 (GRCm39) D22G possibly damaging Het
Cdh17 A G 4: 11,785,201 (GRCm39) D331G probably damaging Het
Csmd1 C G 8: 16,129,936 (GRCm39) V1729L probably benign Het
Cwf19l1 T C 19: 44,119,937 (GRCm39) Y68C probably benign Het
Dst C T 1: 34,228,355 (GRCm39) Q1658* probably null Het
Dst C T 1: 34,251,400 (GRCm39) S4165F probably damaging Het
Fan1 T C 7: 64,022,119 (GRCm39) Y378C probably damaging Het
Fat4 T A 3: 39,061,410 (GRCm39) V4331D probably benign Het
Fbxl8 T C 8: 105,993,781 (GRCm39) S46P probably benign Het
Golgb1 C A 16: 36,719,095 (GRCm39) Q334K probably benign Het
Hoxc10 T C 15: 102,875,879 (GRCm39) V196A probably benign Het
Hsf4 T C 8: 105,997,469 (GRCm39) F101L probably damaging Het
Hydin T C 8: 111,290,561 (GRCm39) I3340T probably damaging Het
Igfbpl1 C T 4: 45,826,426 (GRCm39) R123H probably benign Het
Mov10l1 A T 15: 88,889,898 (GRCm39) probably null Het
Mrc2 T C 11: 105,183,729 (GRCm39) probably null Het
Muc5b G A 7: 141,416,375 (GRCm39) C3107Y possibly damaging Het
Naip2 A T 13: 100,315,940 (GRCm39) L280Q probably damaging Het
Naip2 G C 13: 100,315,941 (GRCm39) L280V probably damaging Het
Nek1 T A 8: 61,525,349 (GRCm39) F596I probably damaging Het
Nfasc T C 1: 132,559,471 (GRCm39) T214A probably damaging Het
Or4a72 T C 2: 89,405,378 (GRCm39) R231G probably damaging Het
Or5aq1b T A 2: 86,902,310 (GRCm39) H56L possibly damaging Het
Or7d10 A T 9: 19,832,105 (GRCm39) Y200F probably damaging Het
Pcdhga10 C T 18: 37,882,074 (GRCm39) P612S probably damaging Het
Picalm A G 7: 89,840,912 (GRCm39) N456S probably damaging Het
Pigo A G 4: 43,025,084 (GRCm39) F5S probably benign Het
Pikfyve T C 1: 65,270,004 (GRCm39) F563S probably damaging Het
Plod2 A G 9: 92,424,598 (GRCm39) E29G probably benign Het
Pm20d2 A G 4: 33,174,414 (GRCm39) V403A probably damaging Het
Proz A G 8: 13,123,533 (GRCm39) E268G probably benign Het
Rb1cc1 T A 1: 6,320,337 (GRCm39) V1252D probably benign Het
Rimbp3 A T 16: 17,028,163 (GRCm39) H529L probably benign Het
Rmdn3 A T 2: 118,986,903 (GRCm39) H41Q possibly damaging Het
Rnf17 T C 14: 56,749,753 (GRCm39) V1433A probably damaging Het
Ror1 A G 4: 100,299,357 (GRCm39) Y910C possibly damaging Het
Scn2a C T 2: 65,512,375 (GRCm39) L171F probably benign Het
Sh3pxd2b A G 11: 32,361,505 (GRCm39) E239G probably damaging Het
Smim33 G A 18: 35,861,767 (GRCm39) V84I probably benign Het
Snx27 G T 3: 94,427,542 (GRCm39) T311K probably benign Het
Sspo T A 6: 48,469,424 (GRCm39) L4459Q probably damaging Het
Syne2 T C 12: 76,095,396 (GRCm39) L5241P probably damaging Het
Tas2r110 T A 6: 132,845,638 (GRCm39) I223N probably damaging Het
Tead2 T A 7: 44,881,752 (GRCm39) probably null Het
Thap12 G T 7: 98,365,870 (GRCm39) K679N probably damaging Het
Vmn2r65 T A 7: 84,595,859 (GRCm39) H275L probably benign Het
Wfs1 C A 5: 37,125,968 (GRCm39) V308L probably benign Het
Zfp229 C A 17: 21,964,843 (GRCm39) H358N probably damaging Het
Zfp687 T C 3: 94,915,225 (GRCm39) D1092G probably damaging Het
Other mutations in Cul5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01674:Cul5 APN 9 53,546,307 (GRCm39) missense probably damaging 1.00
IGL02043:Cul5 APN 9 53,569,973 (GRCm39) missense probably benign 0.26
IGL02145:Cul5 APN 9 53,546,375 (GRCm39) splice site probably benign
IGL02261:Cul5 APN 9 53,546,337 (GRCm39) missense probably damaging 1.00
IGL02281:Cul5 APN 9 53,546,349 (GRCm39) missense possibly damaging 0.87
IGL02639:Cul5 APN 9 53,566,642 (GRCm39) missense possibly damaging 0.89
IGL02697:Cul5 APN 9 53,566,631 (GRCm39) missense probably benign
IGL02752:Cul5 APN 9 53,546,278 (GRCm39) missense probably damaging 0.98
IGL03017:Cul5 APN 9 53,555,785 (GRCm39) critical splice donor site probably null
IGL03031:Cul5 APN 9 53,553,975 (GRCm39) splice site probably benign
IGL03196:Cul5 APN 9 53,537,180 (GRCm39) missense probably damaging 0.99
R0142:Cul5 UTSW 9 53,546,350 (GRCm39) missense probably damaging 0.98
R0415:Cul5 UTSW 9 53,578,370 (GRCm39) missense probably benign 0.00
R1619:Cul5 UTSW 9 53,569,893 (GRCm39) missense probably benign 0.00
R1675:Cul5 UTSW 9 53,557,983 (GRCm39) missense probably benign 0.00
R2031:Cul5 UTSW 9 53,578,480 (GRCm39) missense probably benign
R2059:Cul5 UTSW 9 53,578,456 (GRCm39) missense probably damaging 0.98
R3401:Cul5 UTSW 9 53,532,512 (GRCm39) missense probably benign 0.02
R3427:Cul5 UTSW 9 53,529,190 (GRCm39) missense probably benign
R3701:Cul5 UTSW 9 53,540,516 (GRCm39) missense probably damaging 0.99
R3702:Cul5 UTSW 9 53,540,516 (GRCm39) missense probably damaging 0.99
R3815:Cul5 UTSW 9 53,534,243 (GRCm39) missense probably benign 0.31
R3848:Cul5 UTSW 9 53,529,286 (GRCm39) missense probably benign 0.34
R3849:Cul5 UTSW 9 53,529,286 (GRCm39) missense probably benign 0.34
R4592:Cul5 UTSW 9 53,545,027 (GRCm39) splice site probably benign
R4690:Cul5 UTSW 9 53,534,171 (GRCm39) missense probably damaging 1.00
R5154:Cul5 UTSW 9 53,537,167 (GRCm39) missense probably damaging 1.00
R5173:Cul5 UTSW 9 53,554,034 (GRCm39) missense probably benign
R5645:Cul5 UTSW 9 53,534,243 (GRCm39) missense probably benign 0.17
R5868:Cul5 UTSW 9 53,569,973 (GRCm39) missense probably benign 0.26
R5975:Cul5 UTSW 9 53,534,093 (GRCm39) missense probably damaging 1.00
R6251:Cul5 UTSW 9 53,558,094 (GRCm39) missense probably benign 0.40
R6284:Cul5 UTSW 9 53,535,035 (GRCm39) missense probably damaging 1.00
R6415:Cul5 UTSW 9 53,557,983 (GRCm39) missense probably benign 0.00
R7178:Cul5 UTSW 9 53,555,826 (GRCm39) missense probably benign 0.01
R7511:Cul5 UTSW 9 53,537,269 (GRCm39) missense probably damaging 1.00
R7923:Cul5 UTSW 9 53,535,466 (GRCm39) missense probably benign 0.00
R7940:Cul5 UTSW 9 53,535,069 (GRCm39) missense probably benign 0.21
R8481:Cul5 UTSW 9 53,558,123 (GRCm39) missense probably benign 0.00
R9483:Cul5 UTSW 9 53,532,474 (GRCm39) missense probably benign 0.10
X0018:Cul5 UTSW 9 53,534,229 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCCAAATAAAGCTTCCTCCAG -3'
(R):5'- CTGCTGAGTGAGTCTCCAAATG -3'

Sequencing Primer
(F):5'- TCTGCCCAGGCCTTCAG -3'
(R):5'- CTGAGTGAGTCTCCAAATGATGACC -3'
Posted On 2015-04-06