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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |