Incidental Mutation 'IGL01293:Cul2'
ID 72972
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 # IGL01293
Quality Score
Status
Chromosome 18
Chromosomal Location 3382988-3436377 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3419426 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 196 (K196E)
Ref Sequence ENSEMBL: ENSMUSP00000125403 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025073] [ENSMUST00000080089] [ENSMUST00000161317] [ENSMUST00000162301]
AlphaFold Q9D4H8
Predicted Effect probably damaging
Transcript: ENSMUST00000025073
AA Change: K196E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025073
Gene: ENSMUSG00000024231
AA Change: K196E

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 probably damaging
Transcript: ENSMUST00000161317
AA Change: K133E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123903
Gene: ENSMUSG00000024231
AA Change: K133E

DomainStartEndE-ValueType
CULLIN 353 505 1.19e-84 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000162301
AA Change: K196E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125403
Gene: ENSMUSG00000024231
AA Change: K196E

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,190,226 (GRCm39) V25A probably benign Het
Aadacl4fm5 G T 4: 144,504,159 (GRCm39) H331N probably benign Het
Aagab T C 9: 63,543,751 (GRCm39) V235A probably benign Het
Ash1l T C 3: 88,890,836 (GRCm39) V905A probably benign Het
Atrx A G X: 104,919,801 (GRCm39) S641P probably benign Het
Bnc1 T C 7: 81,624,237 (GRCm39) E330G probably damaging Het
Cenpq A T 17: 41,244,067 (GRCm39) S4T possibly damaging Het
Clvs1 T A 4: 9,281,559 (GRCm39) M1K probably null Het
Cyp2d10 A T 15: 82,287,210 (GRCm39) V471E possibly damaging Het
Efhc2 T A X: 17,073,934 (GRCm39) I469L probably benign Het
Fhod3 C T 18: 25,153,709 (GRCm39) probably benign Het
Gm1968 A G 16: 29,777,632 (GRCm39) noncoding transcript Het
Hpdl T A 4: 116,678,141 (GRCm39) T107S possibly damaging Het
Il1rl1 G A 1: 40,485,376 (GRCm39) G276D possibly damaging Het
Irgq A G 7: 24,233,149 (GRCm39) D330G probably damaging Het
Kdm4b A G 17: 56,660,019 (GRCm39) D62G probably benign Het
Lama2 T C 10: 27,107,632 (GRCm39) T793A probably benign Het
Lrrk2 T C 15: 91,610,340 (GRCm39) F691L probably benign Het
Macf1 C T 4: 123,365,104 (GRCm39) G1654E probably benign Het
Mgat4c A T 10: 102,224,086 (GRCm39) Y100F probably benign Het
Ncapg A G 5: 45,839,196 (GRCm39) N532S probably benign Het
Nfkb1 T C 3: 135,296,600 (GRCm39) D782G probably damaging Het
Nthl1 G T 17: 24,857,683 (GRCm39) C294F probably damaging Het
Obp2b A G 2: 25,627,719 (GRCm39) H45R probably benign Het
Olfm1 A G 2: 28,104,715 (GRCm39) E156G probably damaging Het
Or14j2 A G 17: 37,886,308 (GRCm39) I2T probably benign Het
Or7g29 C A 9: 19,286,632 (GRCm39) A182S probably benign Het
Otud6b A G 4: 14,822,682 (GRCm39) probably benign Het
Patl2 T C 2: 121,954,291 (GRCm39) T427A probably benign Het
Pdzd8 T A 19: 59,288,218 (GRCm39) R1061W probably damaging Het
Plk3 A T 4: 116,990,194 (GRCm39) L137* probably null Het
Rps6ka6 T C X: 110,360,059 (GRCm39) probably benign Het
Shank1 T C 7: 44,003,660 (GRCm39) V1784A possibly damaging Het
Smc1b A T 15: 85,016,099 (GRCm39) S14T probably damaging Het
Sox4 C A 13: 29,136,664 (GRCm39) R114L probably damaging Het
Speg C T 1: 75,364,746 (GRCm39) R221W probably damaging Het
Tram1l1 T C 3: 124,115,788 (GRCm39) V316A probably benign Het
Virma G T 4: 11,521,114 (GRCm39) K840N probably damaging Het
Vmn1r49 A T 6: 90,049,394 (GRCm39) S203T probably damaging Het
Wdr1 T C 5: 38,686,886 (GRCm39) T293A probably benign Het
Xirp2 C T 2: 67,345,528 (GRCm39) P2590S possibly damaging Het
Zfp106 T C 2: 120,365,516 (GRCm39) Y297C possibly damaging Het
Zfp128 A G 7: 12,625,351 (GRCm39) *573W probably null Het
Zfp575 G A 7: 24,285,182 (GRCm39) P153L probably damaging Het
Other mutations in Cul2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00704:Cul2 APN 18 3,423,487 (GRCm39) missense probably benign
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
IGL03389:Cul2 APN 18 3,431,029 (GRCm39) missense probably benign 0.00
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 2013-10-07