Incidental Mutation 'R2253:Cul2'
| ID |
241835 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cul2
|
| Ensembl Gene |
ENSMUSG00000024231 |
| Gene Name |
cullin 2 |
| Synonyms |
4932411N15Rik, 1300003D18Rik |
| MMRRC Submission |
040253-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.953)
|
| Stock # |
R2253 (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 T
at 3399876 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 3
(L3F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123903
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025073]
[ENSMUST00000080089]
[ENSMUST00000161317]
[ENSMUST00000162301]
|
| AlphaFold |
Q9D4H8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025073
AA Change: L3F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000025073
Gene: ENSMUSG00000024231
AA Change: L3F
| 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 damaging
Transcript: ENSMUST00000080089
AA Change: L3F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000078988
Gene: ENSMUSG00000024231
AA Change: L3F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cullin
|
14 |
88 |
2.1e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161317
AA Change: L3F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123903
Gene: ENSMUSG00000024231
AA Change: L3F
| Domain | Start | End | E-Value | Type |
|---|
|
CULLIN
|
353 |
505 |
1.19e-84 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162301
AA Change: L3F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125403
Gene: ENSMUSG00000024231
AA Change: L3F
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
G |
A |
14: 59,380,061 (GRCm39) |
S79F |
probably damaging |
Het |
| Acss3 |
G |
A |
10: 106,840,609 (GRCm39) |
A384V |
probably damaging |
Het |
| Aff2 |
G |
A |
X: 68,878,409 (GRCm39) |
E732K |
possibly damaging |
Het |
| Atp12a |
A |
G |
14: 56,613,715 (GRCm39) |
T496A |
probably benign |
Het |
| B3gnt3 |
A |
T |
8: 72,145,462 (GRCm39) |
M302K |
probably damaging |
Het |
| Bptf |
G |
T |
11: 107,002,148 (GRCm39) |
D321E |
probably damaging |
Het |
| C1ql3 |
C |
T |
2: 13,015,130 (GRCm39) |
V177I |
possibly damaging |
Het |
| C2cd5 |
A |
T |
6: 142,982,042 (GRCm39) |
Y607* |
probably null |
Het |
| Casp3 |
G |
T |
8: 47,090,990 (GRCm39) |
W214L |
probably damaging |
Het |
| Cd248 |
A |
G |
19: 5,118,154 (GRCm39) |
M1V |
probably null |
Het |
| Cdh18 |
A |
G |
15: 23,410,891 (GRCm39) |
T405A |
probably benign |
Het |
| Cldn24 |
G |
T |
8: 48,275,363 (GRCm39) |
R62S |
probably benign |
Het |
| Cnot1 |
A |
G |
8: 96,489,814 (GRCm39) |
V463A |
probably benign |
Het |
| Ep400 |
A |
T |
5: 110,866,957 (GRCm39) |
N1062K |
unknown |
Het |
| Gch1 |
T |
C |
14: 47,426,798 (GRCm39) |
|
probably benign |
Het |
| Gzf1 |
T |
C |
2: 148,525,856 (GRCm39) |
M109T |
probably damaging |
Het |
| Itch |
T |
A |
2: 155,054,259 (GRCm39) |
M701K |
probably benign |
Het |
| Kank4 |
A |
T |
4: 98,667,463 (GRCm39) |
I328N |
probably damaging |
Het |
| Krt9 |
A |
T |
11: 100,081,685 (GRCm39) |
N281K |
possibly damaging |
Het |
| Lgals12 |
T |
A |
19: 7,584,130 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
T |
C |
11: 103,392,293 (GRCm39) |
Q1044R |
probably benign |
Het |
| Mbtps2 |
A |
T |
X: 156,342,029 (GRCm39) |
F270L |
probably benign |
Het |
| Nr3c1 |
G |
T |
18: 39,619,804 (GRCm39) |
T161K |
probably benign |
Het |
| Or2w3b |
T |
C |
11: 58,623,821 (GRCm39) |
T57A |
probably benign |
Het |
| Or4g16 |
A |
G |
2: 111,136,655 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or5ak20 |
A |
G |
2: 85,184,202 (GRCm39) |
S23P |
possibly damaging |
Het |
| Or5b116 |
T |
C |
19: 13,422,549 (GRCm39) |
Y58H |
probably damaging |
Het |
| Pla2g4d |
T |
C |
2: 120,101,622 (GRCm39) |
K453E |
probably damaging |
Het |
| Plcb2 |
T |
C |
2: 118,554,246 (GRCm39) |
N69S |
probably benign |
Het |
| Prl3d1 |
T |
C |
13: 27,278,981 (GRCm39) |
Y59H |
possibly damaging |
Het |
| Rnf133 |
T |
C |
6: 23,649,174 (GRCm39) |
M252V |
probably benign |
Het |
| Rnf181 |
G |
T |
6: 72,338,467 (GRCm39) |
H14N |
possibly damaging |
Het |
| Sash1 |
A |
T |
10: 8,605,741 (GRCm39) |
M883K |
probably benign |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Slc13a4 |
A |
G |
6: 35,257,418 (GRCm39) |
V240A |
probably benign |
Het |
| Slc2a5 |
T |
C |
4: 150,224,447 (GRCm39) |
Y315H |
possibly damaging |
Het |
| Slc7a2 |
T |
C |
8: 41,358,658 (GRCm39) |
Y334H |
probably benign |
Het |
| Spib |
A |
G |
7: 44,179,392 (GRCm39) |
S23P |
probably benign |
Het |
| Tbc1d1 |
A |
G |
5: 64,442,143 (GRCm39) |
N721S |
probably benign |
Het |
| Tcf25 |
A |
G |
8: 124,100,772 (GRCm39) |
E54G |
probably benign |
Het |
| Tesl2 |
G |
A |
X: 23,824,950 (GRCm39) |
A75V |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Uba7 |
A |
G |
9: 107,853,563 (GRCm39) |
H131R |
probably benign |
Het |
| Vmn2r6 |
C |
T |
3: 64,467,139 (GRCm39) |
C120Y |
probably damaging |
Het |
| Zdhhc18 |
A |
T |
4: 133,360,388 (GRCm39) |
|
probably null |
Het |
| Zfp970 |
T |
A |
2: 177,166,614 (GRCm39) |
|
probably null |
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 |
|
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'- GAAGCTTACCAGTCTTTCAATTCAC -3'
(R):5'- GCCTAAGGCTCTAAACTTGTTTTC -3'
Sequencing Primer
(F):5'- CATAGGAGTCCCTTGGAACTG -3'
(R):5'- GTTGCTCGCTCGACATAT -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation