Incidental Mutation 'R1119:Cul2'
| ID |
97804 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cul2
|
| Ensembl Gene |
ENSMUSG00000024231 |
| Gene Name |
cullin 2 |
| Synonyms |
4932411N15Rik, 1300003D18Rik |
| MMRRC Submission |
039192-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.953)
|
| Stock # |
R1119 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
3382988-3436377 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 3419335 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 |
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
|
| SMART Domains |
Protein: ENSMUSP00000125403
Gene: ENSMUSG00000024231
| 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: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.4%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl3 |
A |
C |
7: 82,189,525 (GRCm39) |
E583A |
probably damaging |
Het |
| Aoah |
T |
A |
13: 21,099,108 (GRCm39) |
|
probably benign |
Het |
| Atf7ip2 |
A |
G |
16: 10,058,476 (GRCm39) |
K305R |
possibly damaging |
Het |
| Bltp1 |
T |
G |
3: 37,041,194 (GRCm39) |
V2524G |
probably damaging |
Het |
| Cd200r2 |
A |
G |
16: 44,729,969 (GRCm39) |
N171S |
probably damaging |
Het |
| Cfap57 |
G |
A |
4: 118,463,873 (GRCm39) |
Q327* |
probably null |
Het |
| Ckap2l |
A |
T |
2: 129,114,492 (GRCm39) |
|
probably benign |
Het |
| Ddx60 |
G |
A |
8: 62,395,578 (GRCm39) |
V172M |
probably damaging |
Het |
| Drp2 |
T |
C |
X: 133,342,071 (GRCm39) |
L545P |
probably damaging |
Het |
| Ezh1 |
A |
G |
11: 101,101,361 (GRCm39) |
|
probably benign |
Het |
| Gipc2 |
A |
G |
3: 151,799,833 (GRCm39) |
F299S |
probably damaging |
Het |
| Gsk3b |
T |
C |
16: 38,028,346 (GRCm39) |
|
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Hikeshi |
A |
G |
7: 89,584,938 (GRCm39) |
S89P |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,494,679 (GRCm39) |
A4137T |
possibly damaging |
Het |
| Itprid1 |
T |
C |
6: 55,866,155 (GRCm39) |
F183L |
probably damaging |
Het |
| Larp1b |
C |
A |
3: 40,987,963 (GRCm39) |
R62S |
possibly damaging |
Het |
| Lgr5 |
A |
T |
10: 115,296,716 (GRCm39) |
|
probably null |
Het |
| Lpin1 |
C |
A |
12: 16,613,722 (GRCm39) |
D449Y |
probably damaging |
Het |
| Macrod2 |
A |
T |
2: 140,242,826 (GRCm39) |
I31L |
probably benign |
Het |
| Meig1 |
T |
C |
2: 3,410,311 (GRCm39) |
D63G |
probably damaging |
Het |
| Ndufa9 |
A |
T |
6: 126,799,031 (GRCm39) |
L362Q |
probably damaging |
Het |
| Nlrp9c |
A |
T |
7: 26,083,862 (GRCm39) |
D572E |
probably benign |
Het |
| Nxpe5 |
G |
A |
5: 138,237,658 (GRCm39) |
D61N |
probably benign |
Het |
| Ogdh |
T |
A |
11: 6,290,544 (GRCm39) |
H376Q |
probably damaging |
Het |
| P4ha3 |
T |
C |
7: 99,962,535 (GRCm39) |
I431T |
probably damaging |
Het |
| Pcdhb14 |
G |
A |
18: 37,581,640 (GRCm39) |
V249M |
probably damaging |
Het |
| Pcnp |
A |
G |
16: 55,844,754 (GRCm39) |
S49P |
probably damaging |
Het |
| Pik3r6 |
C |
T |
11: 68,436,698 (GRCm39) |
T654I |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,303,552 (GRCm39) |
Y295C |
possibly damaging |
Het |
| Sec16b |
A |
G |
1: 157,392,404 (GRCm39) |
D924G |
possibly damaging |
Het |
| Setd1b |
C |
A |
5: 123,285,779 (GRCm39) |
T275K |
unknown |
Het |
| Sgcb |
T |
A |
5: 73,801,757 (GRCm39) |
K36I |
probably damaging |
Het |
| Smg7 |
A |
T |
1: 152,742,326 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Stab2 |
T |
C |
10: 86,695,619 (GRCm39) |
D599G |
possibly damaging |
Het |
| Stk36 |
A |
G |
1: 74,671,925 (GRCm39) |
E875G |
probably benign |
Het |
| Tagln3 |
C |
A |
16: 45,544,635 (GRCm39) |
R12L |
probably damaging |
Het |
| Tax1bp1 |
C |
A |
6: 52,718,933 (GRCm39) |
|
probably benign |
Het |
| Thnsl1 |
A |
G |
2: 21,217,857 (GRCm39) |
N16S |
probably damaging |
Het |
| Ticrr |
C |
T |
7: 79,343,701 (GRCm39) |
P1189S |
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,904,017 (GRCm39) |
V1053M |
probably damaging |
Het |
| Tpp2 |
T |
C |
1: 44,031,556 (GRCm39) |
|
probably null |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Vmn2r60 |
A |
T |
7: 41,844,365 (GRCm39) |
Q576L |
possibly damaging |
Het |
| Zfp62 |
G |
T |
11: 49,107,517 (GRCm39) |
R536L |
probably damaging |
Het |
| Zfp958 |
A |
T |
8: 4,676,169 (GRCm39) |
N46Y |
possibly 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTTCTGTCCTCGGTGAATACCATTAG -3'
(R):5'- GTTTCAGTCAGAAAGGGAGACACGAAT -3'
Sequencing Primer
(F):5'- aaaccaatacttttacttttttcccc -3'
(R):5'- GGTCTCATCATGTTTTGAAATAGGC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation