Incidental Mutation 'IGL03409:Cul2'
ID421686
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cul2
Ensembl Gene ENSMUSG00000024231
Gene Namecullin 2
Synonyms4932411N15Rik, 1300003D18Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.945) question?
Stock #IGL03409
Quality Score
Status
Chromosome18
Chromosomal Location3382988-3436377 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 3429593 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 547 (H547Q)
Ref Sequence ENSEMBL: ENSMUSP00000125403 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025073] [ENSMUST00000080089] [ENSMUST00000161317] [ENSMUST00000162301]
Predicted Effect probably damaging
Transcript: ENSMUST00000025073
AA Change: H547Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025073
Gene: ENSMUSG00000024231
AA Change: H547Q

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 possibly damaging
Transcript: ENSMUST00000161317
AA Change: H484Q

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123903
Gene: ENSMUSG00000024231
AA Change: H484Q

DomainStartEndE-ValueType
CULLIN 353 505 1.19e-84 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161852
Predicted Effect probably damaging
Transcript: ENSMUST00000162301
AA Change: H547Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125403
Gene: ENSMUSG00000024231
AA Change: H547Q

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 A T 8: 123,965,023 M401K possibly damaging Het
Ablim3 T A 18: 61,845,851 H203L probably damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Aox2 T G 1: 58,354,429 D1249E possibly damaging Het
Astn2 T C 4: 65,435,186 I1116V possibly damaging Het
Atad3a T C 4: 155,747,350 D489G probably damaging Het
Caln1 G T 5: 130,617,878 G52C probably damaging Het
Cbwd1 A G 19: 24,922,766 V289A probably benign Het
Clcn7 A G 17: 25,155,385 T467A probably damaging Het
Col17a1 A T 19: 47,666,540 I599N possibly damaging Het
Cxcl14 T C 13: 56,292,507 T80A probably damaging Het
Dscaml1 T A 9: 45,670,103 Y407N probably damaging Het
Edc4 T A 8: 105,885,116 I108N probably damaging Het
Exoc2 T C 13: 30,940,737 probably benign Het
Gm1110 T G 9: 26,896,620 H290P probably benign Het
Gm16223 T A 5: 42,067,993 W12R unknown Het
Herc2 C A 7: 56,228,569 H4623Q probably damaging Het
Igkv18-36 A T 6: 69,992,605 H68Q possibly damaging Het
Kif7 T C 7: 79,707,553 E635G probably benign Het
Olfr1160 A T 2: 88,005,895 N285K probably damaging Het
Olfr1214 A T 2: 88,987,587 I205N possibly damaging Het
Olfr328 T C 11: 58,551,562 K226E probably benign Het
Olfr618 T A 7: 103,597,367 M17K possibly damaging Het
Pam C A 1: 97,864,329 A456S probably benign Het
Pgap3 T C 11: 98,398,938 T76A possibly damaging Het
Pkd2 C A 5: 104,489,349 Y609* probably null Het
Plcg2 A G 8: 117,583,495 D362G probably damaging Het
Polr3h C A 15: 81,917,394 A94S probably benign Het
Rhod T C 19: 4,432,158 D76G probably damaging Het
Rims2 T C 15: 39,456,733 V670A probably damaging Het
Rpap3 G A 15: 97,681,739 T464M possibly damaging Het
Rufy1 T A 11: 50,406,483 I381L probably benign Het
Slc1a4 T C 11: 20,306,506 T442A probably damaging Het
Slc9b1 T C 3: 135,394,909 S472P probably damaging Het
Tmtc3 T C 10: 100,451,432 T501A possibly damaging Het
Tnpo3 C A 6: 29,555,182 D801Y probably damaging Het
Ttc39b T C 4: 83,260,956 Y111C probably damaging Het
Ubr4 A T 4: 139,399,929 R543* probably null Het
Vmn1r74 T G 7: 11,847,313 L180R probably damaging Het
Vps45 T G 3: 96,053,089 E80A probably benign Het
Zfp677 T C 17: 21,396,845 Y55H probably damaging Het
Other mutations in Cul2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00704:Cul2 APN 18 3423487 missense probably benign
IGL01293:Cul2 APN 18 3419426 missense probably damaging 0.99
IGL02719:Cul2 APN 18 3434052 missense probably damaging 1.00
IGL02886:Cul2 APN 18 3426920 splice site probably benign
IGL03190:Cul2 APN 18 3429634 missense possibly damaging 0.95
IGL03389:Cul2 APN 18 3431029 missense probably benign 0.00
R0238:Cul2 UTSW 18 3414115 splice site probably benign
R1013:Cul2 UTSW 18 3425535 nonsense probably null
R1119:Cul2 UTSW 18 3419335 splice site probably benign
R1743:Cul2 UTSW 18 3426851 missense probably damaging 1.00
R1897:Cul2 UTSW 18 3414164 missense probably benign
R2252:Cul2 UTSW 18 3399876 missense probably damaging 1.00
R2253:Cul2 UTSW 18 3399876 missense probably damaging 1.00
R3898:Cul2 UTSW 18 3434033 missense probably benign 0.07
R4386:Cul2 UTSW 18 3434856 missense probably damaging 1.00
R4579:Cul2 UTSW 18 3430957 missense probably benign 0.00
R4828:Cul2 UTSW 18 3431013 missense probably damaging 1.00
R6085:Cul2 UTSW 18 3431508 missense probably benign 0.01
R6429:Cul2 UTSW 18 3421345 missense probably damaging 1.00
R6480:Cul2 UTSW 18 3417561 missense possibly damaging 0.89
R6805:Cul2 UTSW 18 3421263 missense probably damaging 1.00
R6825:Cul2 UTSW 18 3434946 missense probably damaging 0.99
R7343:Cul2 UTSW 18 3426873 missense probably benign 0.08
X0067:Cul2 UTSW 18 3419435 missense possibly damaging 0.62
Posted On2016-08-02