Incidental Mutation 'IGL03389:Cul2'
ID 420983
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cul2
Ensembl Gene ENSMUSG00000024231
Gene Name cullin 2
Synonyms 4932411N15Rik, 1300003D18Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.941) question?
Stock # IGL03389
Quality Score
Status
Chromosome 18
Chromosomal Location 3382988-3436377 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3431029 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 538 (D538G)
Ref Sequence ENSEMBL: ENSMUSP00000123903 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025073] [ENSMUST00000080089] [ENSMUST00000161317] [ENSMUST00000162301]
AlphaFold Q9D4H8
Predicted Effect probably benign
Transcript: ENSMUST00000025073
AA Change: D601G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025073
Gene: ENSMUSG00000024231
AA Change: D601G

DomainStartEndE-ValueType
SCOP:d1ldja2 11 386 1e-109 SMART
CULLIN 416 568 1.19e-84 SMART
low complexity region 636 646 N/A INTRINSIC
Pfam:Cullin_Nedd8 651 700 9.2e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000080089
SMART Domains Protein: ENSMUSP00000078988
Gene: ENSMUSG00000024231

DomainStartEndE-ValueType
Pfam:Cullin 14 88 2.1e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159443
Predicted Effect probably benign
Transcript: ENSMUST00000161317
AA Change: D538G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000123903
Gene: ENSMUSG00000024231
AA Change: D538G

DomainStartEndE-ValueType
CULLIN 353 505 1.19e-84 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161852
Predicted Effect probably benign
Transcript: ENSMUST00000162301
AA Change: D601G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125403
Gene: ENSMUSG00000024231
AA Change: D601G

DomainStartEndE-ValueType
SCOP:d1ldja2 11 386 1e-108 SMART
CULLIN 416 568 1.19e-84 SMART
low complexity region 636 646 N/A INTRINSIC
Cullin_Nedd8 672 739 1.01e-33 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff3 A T 1: 38,249,430 (GRCm39) V559E possibly damaging Het
Alpk2 G T 18: 65,437,937 (GRCm39) P1619Q possibly damaging Het
Amz1 C A 5: 140,737,782 (GRCm39) F347L probably benign Het
Ank1 T C 8: 23,578,076 (GRCm39) probably null Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Cdc16 A G 8: 13,809,179 (GRCm39) Y48C probably damaging Het
Cfap91 C T 16: 38,144,498 (GRCm39) probably null Het
Cyp2j13 T A 4: 95,956,558 (GRCm39) I184F probably damaging Het
Cyp4a12b A T 4: 115,291,005 (GRCm39) R344S possibly damaging Het
Dis3 A G 14: 99,332,783 (GRCm39) probably benign Het
Dnah17 T C 11: 117,985,805 (GRCm39) H1424R probably damaging Het
Eef2 A G 10: 81,015,540 (GRCm39) I354V probably benign Het
Elmo1 A G 13: 20,526,596 (GRCm39) D382G probably damaging Het
Epas1 T A 17: 87,131,131 (GRCm39) S304T probably benign Het
Fry A T 5: 150,317,696 (GRCm39) D892V probably damaging Het
Gprc5a G T 6: 135,060,823 (GRCm39) D355Y possibly damaging Het
Hsd17b7 G A 1: 169,787,320 (GRCm39) T228I probably damaging Het
Ift74 T C 4: 94,510,149 (GRCm39) V60A possibly damaging Het
Insrr A T 3: 87,716,038 (GRCm39) I578F probably damaging Het
Izumo1 T C 7: 45,273,613 (GRCm39) F122S probably damaging Het
Lss G A 10: 76,372,173 (GRCm39) R176H probably damaging Het
Ltb T C 17: 35,414,044 (GRCm39) S61P probably benign Het
Mybphl T C 3: 108,283,034 (GRCm39) V274A probably benign Het
Myo9a T G 9: 59,776,890 (GRCm39) L1096W probably damaging Het
Nlrc5 T A 8: 95,248,102 (GRCm39) L1690H probably damaging Het
Nrap A T 19: 56,340,148 (GRCm39) S790T probably benign Het
Nrcam A G 12: 44,596,689 (GRCm39) D308G probably benign Het
Or10a3 G A 7: 108,479,982 (GRCm39) T277M probably damaging Het
Or1j17 A G 2: 36,578,274 (GRCm39) T87A probably benign Het
Pias2 A G 18: 77,185,354 (GRCm39) D138G probably damaging Het
Prpf4b T C 13: 35,084,439 (GRCm39) probably benign Het
Rapgef3 A G 15: 97,647,397 (GRCm39) S788P probably damaging Het
Slc5a6 T C 5: 31,194,821 (GRCm39) Y525C probably damaging Het
Snx32 T C 19: 5,546,082 (GRCm39) probably benign Het
Tnfaip3 T C 10: 18,880,735 (GRCm39) E444G probably benign Het
Ttc27 T C 17: 75,165,028 (GRCm39) Y745H probably benign Het
Other mutations in Cul2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00704:Cul2 APN 18 3,423,487 (GRCm39) missense probably benign
IGL01293:Cul2 APN 18 3,419,426 (GRCm39) missense probably damaging 0.99
IGL02719:Cul2 APN 18 3,434,052 (GRCm39) missense probably damaging 1.00
IGL02886:Cul2 APN 18 3,426,920 (GRCm39) splice site probably benign
IGL03190:Cul2 APN 18 3,429,634 (GRCm39) missense possibly damaging 0.95
IGL03409:Cul2 APN 18 3,429,593 (GRCm39) missense probably damaging 1.00
R0238:Cul2 UTSW 18 3,414,115 (GRCm39) splice site probably benign
R1013:Cul2 UTSW 18 3,425,535 (GRCm39) nonsense probably null
R1119:Cul2 UTSW 18 3,419,335 (GRCm39) splice site probably benign
R1743:Cul2 UTSW 18 3,426,851 (GRCm39) missense probably damaging 1.00
R1897:Cul2 UTSW 18 3,414,164 (GRCm39) missense probably benign
R2252:Cul2 UTSW 18 3,399,876 (GRCm39) missense probably damaging 1.00
R2253:Cul2 UTSW 18 3,399,876 (GRCm39) missense probably damaging 1.00
R3898:Cul2 UTSW 18 3,434,033 (GRCm39) missense probably benign 0.07
R4386:Cul2 UTSW 18 3,434,856 (GRCm39) missense probably damaging 1.00
R4579:Cul2 UTSW 18 3,430,957 (GRCm39) missense probably benign 0.00
R4828:Cul2 UTSW 18 3,431,013 (GRCm39) missense probably damaging 1.00
R6085:Cul2 UTSW 18 3,431,508 (GRCm39) missense probably benign 0.01
R6429:Cul2 UTSW 18 3,421,345 (GRCm39) missense probably damaging 1.00
R6480:Cul2 UTSW 18 3,417,561 (GRCm39) missense possibly damaging 0.89
R6805:Cul2 UTSW 18 3,421,263 (GRCm39) missense probably damaging 1.00
R6825:Cul2 UTSW 18 3,434,946 (GRCm39) missense probably damaging 0.99
R7343:Cul2 UTSW 18 3,426,873 (GRCm39) missense probably benign 0.08
R7690:Cul2 UTSW 18 3,419,420 (GRCm39) missense probably benign 0.09
R8114:Cul2 UTSW 18 3,426,164 (GRCm39) nonsense probably null
R8414:Cul2 UTSW 18 3,399,912 (GRCm39) missense probably benign 0.08
R8736:Cul2 UTSW 18 3,434,019 (GRCm39) missense probably damaging 0.99
R8849:Cul2 UTSW 18 3,423,551 (GRCm39) missense probably benign 0.00
R9199:Cul2 UTSW 18 3,423,577 (GRCm39) missense probably benign 0.00
R9443:Cul2 UTSW 18 3,434,041 (GRCm39) nonsense probably null
R9709:Cul2 UTSW 18 3,431,560 (GRCm39) missense probably damaging 1.00
X0067:Cul2 UTSW 18 3,419,435 (GRCm39) missense possibly damaging 0.62
Posted On 2016-08-02