Incidental Mutation 'IGL02281:Cul5'
ID 289844
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cul5
Ensembl Gene ENSMUSG00000032030
Gene Name cullin 5
Synonyms VACM-1, C030032G03Rik, 4921514I20Rik, C330021I08Rik, 8430423K24Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02281
Quality Score
Status
Chromosome 9
Chromosomal Location 53525881-53578807 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53546349 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 137 (V137A)
Ref Sequence ENSEMBL: ENSMUSP00000113490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034529] [ENSMUST00000120122] [ENSMUST00000166367]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000034529
AA Change: V341A

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000034529
Gene: ENSMUSG00000032030
AA Change: V341A

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 noncoding transcript
Transcript: ENSMUST00000082688
Predicted Effect possibly damaging
Transcript: ENSMUST00000120122
AA Change: V137A

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113490
Gene: ENSMUSG00000032030
AA Change: V137A

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: ENSMUST00000123499
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141180
Predicted Effect possibly damaging
Transcript: ENSMUST00000166367
AA Change: V314A

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133144
Gene: ENSMUSG00000032030
AA Change: V314A

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
Coding Region Coverage
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrp T C 8: 106,293,786 (GRCm39) E60G probably benign Het
Aldh3a1 T G 11: 61,107,949 (GRCm39) probably null Het
Bach2 T C 4: 32,562,513 (GRCm39) C327R possibly damaging Het
Bcam C T 7: 19,492,616 (GRCm39) G523D probably damaging Het
Bmpr2 T A 1: 59,907,503 (GRCm39) D865E probably damaging Het
Calm1 A T 12: 100,171,883 (GRCm39) I112F probably damaging Het
Ceacam3 T C 7: 16,895,656 (GRCm39) V542A probably benign Het
Clec5a A T 6: 40,561,336 (GRCm39) D36E probably benign Het
Clspn T A 4: 126,459,563 (GRCm39) C321S possibly damaging Het
Cmtr1 T A 17: 29,910,255 (GRCm39) D453E probably benign Het
Cntnap1 T A 11: 101,073,080 (GRCm39) D561E possibly damaging Het
Cyp2b9 A G 7: 25,900,529 (GRCm39) Y389C probably damaging Het
Ddi2 A G 4: 141,419,730 (GRCm39) V340A probably benign Het
Etv4 T C 11: 101,664,545 (GRCm39) Y235C probably damaging Het
Gm3099 G A 14: 15,347,225 (GRCm39) probably benign Het
Gpsm1 T A 2: 26,229,638 (GRCm39) probably benign Het
Idh2 A G 7: 79,745,550 (GRCm39) probably null Het
Kit G A 5: 75,815,194 (GRCm39) E973K possibly damaging Het
Lilra5 A G 7: 4,241,782 (GRCm39) I194V probably benign Het
Lrp6 A C 6: 134,434,697 (GRCm39) N1335K probably benign Het
Map9 G A 3: 82,298,453 (GRCm39) E613K possibly damaging Het
Mroh2b G A 15: 4,981,745 (GRCm39) A1519T probably benign Het
Nefm A G 14: 68,361,913 (GRCm39) V117A probably damaging Het
Nr2c2 T A 6: 92,131,495 (GRCm39) S186T probably benign Het
Pde2a G A 7: 101,130,599 (GRCm39) A80T probably benign Het
Plcd1 A T 9: 118,903,841 (GRCm39) C334S probably benign Het
Pomt1 T C 2: 32,138,658 (GRCm39) S425P possibly damaging Het
Pspc1 G T 14: 56,960,635 (GRCm39) P497T probably benign Het
Rnf123 G A 9: 107,948,651 (GRCm39) P58L probably benign Het
Rph3a T C 5: 121,086,896 (GRCm39) T435A probably damaging Het
Rsbn1 T C 3: 103,869,777 (GRCm39) L746P probably damaging Het
Sfrp2 A G 3: 83,680,446 (GRCm39) E202G possibly damaging Het
Slc25a38 T C 9: 119,946,598 (GRCm39) S111P probably damaging Het
Tfcp2l1 T C 1: 118,597,110 (GRCm39) probably benign Het
Tonsl A T 15: 76,518,274 (GRCm39) L566H probably damaging Het
Tsc1 C A 2: 28,553,607 (GRCm39) D153E probably damaging Het
Vmn2r37 A T 7: 9,220,881 (GRCm39) H327Q possibly 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
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
R3850: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
Posted On 2015-04-16