Incidental Mutation 'R3898:Cul2'
ID 309077
Institutional Source Beutler Lab
Gene Symbol Cul2
Ensembl Gene ENSMUSG00000024231
Gene Name cullin 2
Synonyms 4932411N15Rik, 1300003D18Rik
MMRRC Submission 040906-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.941) question?
Stock # R3898 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 3382988-3436377 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3434033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 677 (K677E)
Ref Sequence ENSEMBL: ENSMUSP00000125403 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025073] [ENSMUST00000080089] [ENSMUST00000161317] [ENSMUST00000162301]
AlphaFold Q9D4H8
Predicted Effect probably benign
Transcript: ENSMUST00000025073
SMART Domains Protein: ENSMUSP00000025073
Gene: ENSMUSG00000024231

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
SMART Domains Protein: ENSMUSP00000123903
Gene: ENSMUSG00000024231

DomainStartEndE-ValueType
CULLIN 353 505 1.19e-84 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162301
AA Change: K677E

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000125403
Gene: ENSMUSG00000024231
AA Change: K677E

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg1 A C 16: 5,054,253 (GRCm39) I154L possibly damaging Het
Ankra2 C T 13: 98,410,317 (GRCm39) L136F probably benign Het
Anpep A G 7: 79,488,973 (GRCm39) S372P probably benign Het
Cabyr T C 18: 12,884,580 (GRCm39) S356P probably benign Het
Cad G T 5: 31,231,366 (GRCm39) C1633F probably benign Het
Cadps2 G A 6: 23,528,125 (GRCm39) R425W probably damaging Het
Ccdc180 A G 4: 45,912,799 (GRCm39) K593E possibly damaging Het
Cdh8 T A 8: 99,898,005 (GRCm39) E436V probably damaging Het
Cfap95 A G 19: 23,570,466 (GRCm39) V101A probably benign Het
Cln6 T G 9: 62,757,934 (GRCm39) F231C probably damaging Het
Cyp2c69 T C 19: 39,864,834 (GRCm39) I215V probably benign Het
Dhx36 T C 3: 62,399,790 (GRCm39) D393G probably damaging Het
Dnah7b T C 1: 46,282,417 (GRCm39) V2850A probably damaging Het
Dnah8 G A 17: 31,073,872 (GRCm39) R4514H probably damaging Het
Drg2 T A 11: 60,347,460 (GRCm39) S50T probably benign Het
Ecscr A G 18: 35,846,705 (GRCm39) S230P possibly damaging Het
Eif2ak4 T C 2: 118,261,404 (GRCm39) V527A probably damaging Het
Elfn1 G A 5: 139,957,719 (GRCm39) R241H probably damaging Het
Fchsd2 A G 7: 100,841,006 (GRCm39) K172E possibly damaging Het
Fli1 C T 9: 32,388,018 (GRCm39) G24R possibly damaging Het
Frmd3 A G 4: 73,992,346 (GRCm39) D71G probably damaging Het
Ggnbp1 A G 17: 27,244,312 (GRCm39) probably benign Het
Gpat2 T C 2: 127,277,018 (GRCm39) F713S probably damaging Het
H2-Q2 C T 17: 35,561,743 (GRCm39) P78S probably damaging Het
Kcnq2 C T 2: 180,751,479 (GRCm39) A306T probably damaging Het
Lmntd1 G A 6: 145,359,152 (GRCm39) P333S probably benign Het
Lrp1 G A 10: 127,427,969 (GRCm39) R535* probably null Het
Mmrn2 G T 14: 34,121,517 (GRCm39) probably null Het
Nlrp1a G A 11: 71,013,700 (GRCm39) P517S probably benign Het
Or2y13 A T 11: 49,415,386 (GRCm39) I279F probably damaging Het
Pou4f1 T C 14: 104,703,165 (GRCm39) *422W probably null Het
Ptpn14 C T 1: 189,582,728 (GRCm39) P525L probably benign Het
Pyroxd2 C A 19: 42,728,831 (GRCm39) G190C probably damaging Het
Rd3 T C 1: 191,717,217 (GRCm39) V114A probably damaging Het
Sptbn5 T C 2: 119,887,691 (GRCm39) noncoding transcript Het
Tbc1d5 A T 17: 51,270,772 (GRCm39) F153Y probably damaging Het
Thop1 G A 10: 80,916,278 (GRCm39) G429S probably damaging Het
Trim30d T A 7: 104,132,736 (GRCm39) I184L probably benign Het
Ubr5 T C 15: 37,997,983 (GRCm39) S1727G probably benign Het
Vezf1 T C 11: 87,966,999 (GRCm39) F77L probably benign Het
Vmn2r12 C T 5: 109,238,370 (GRCm39) A457T probably benign Het
Xirp1 A T 9: 119,848,406 (GRCm39) M159K probably benign Het
Zkscan17 C T 11: 59,394,263 (GRCm39) A113T probably damaging Het
Zyg11a T A 4: 108,067,391 (GRCm39) N40Y probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- TTGTCCACAGTGTGAAGGCTG -3'
(R):5'- CTAGTTCAAACCTAGCAAAGTCGTC -3'

Sequencing Primer
(F):5'- CTGGAAATGAAGCCTGGCTCTTC -3'
(R):5'- CCTAGCAAAGTCGTCTCTAAACTG -3'
Posted On 2015-04-17