Incidental Mutation 'R4386:Cul2'
ID |
326246 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cul2
|
Ensembl Gene |
ENSMUSG00000024231 |
Gene Name |
cullin 2 |
Synonyms |
4932411N15Rik, 1300003D18Rik |
MMRRC Submission |
041680-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.941)
|
Stock # |
R4386 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
3382988-3436377 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 3434856 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 668
(S668P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025073
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025073]
[ENSMUST00000080089]
[ENSMUST00000161317]
[ENSMUST00000162301]
|
AlphaFold |
Q9D4H8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025073
AA Change: S668P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000025073 Gene: ENSMUSG00000024231 AA Change: S668P
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 damaging
Transcript: ENSMUST00000162301
AA Change: S707P
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000125403 Gene: ENSMUSG00000024231 AA Change: S707P
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 |
|
Meta Mutation Damage Score |
0.5201 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
100% (48/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
A |
T |
5: 114,379,982 (GRCm39) |
|
probably null |
Het |
Acsm3 |
G |
T |
7: 119,373,094 (GRCm39) |
W199L |
probably damaging |
Het |
Arap1 |
T |
A |
7: 101,034,778 (GRCm39) |
D236E |
probably benign |
Het |
Arhgap1 |
T |
C |
2: 91,498,582 (GRCm39) |
Y160H |
probably damaging |
Het |
Arid1b |
A |
G |
17: 5,045,247 (GRCm39) |
|
probably benign |
Het |
Cdc25a |
A |
G |
9: 109,718,801 (GRCm39) |
E334G |
probably damaging |
Het |
Ciz1 |
C |
T |
2: 32,260,111 (GRCm39) |
T219M |
possibly damaging |
Het |
Cluap1 |
A |
C |
16: 3,751,586 (GRCm39) |
D315A |
possibly damaging |
Het |
Cps1 |
T |
C |
1: 67,210,154 (GRCm39) |
|
probably null |
Het |
Fah |
T |
A |
7: 84,248,344 (GRCm39) |
T125S |
probably damaging |
Het |
Fam221a |
G |
A |
6: 49,355,366 (GRCm39) |
C156Y |
probably damaging |
Het |
Gm6158 |
G |
T |
14: 24,120,362 (GRCm39) |
|
noncoding transcript |
Het |
Hbq1b |
T |
A |
11: 32,237,295 (GRCm39) |
V63E |
probably damaging |
Het |
Ighv6-5 |
G |
A |
12: 114,380,337 (GRCm39) |
T79I |
possibly damaging |
Het |
Kif12 |
G |
A |
4: 63,089,455 (GRCm39) |
T99M |
probably damaging |
Het |
Kif1a |
T |
A |
1: 92,996,272 (GRCm39) |
K298M |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lama1 |
A |
G |
17: 68,080,707 (GRCm39) |
Q1245R |
probably benign |
Het |
Marchf4 |
G |
A |
1: 72,467,973 (GRCm39) |
P353L |
probably benign |
Het |
Nadk |
A |
T |
4: 155,667,032 (GRCm39) |
|
probably benign |
Het |
Ncoa2 |
T |
C |
1: 13,247,389 (GRCm39) |
T345A |
probably damaging |
Het |
Niban3 |
A |
G |
8: 72,060,155 (GRCm39) |
|
probably benign |
Het |
Nsun6 |
T |
A |
2: 15,001,333 (GRCm39) |
M408L |
probably benign |
Het |
Nuak1 |
T |
A |
10: 84,229,908 (GRCm39) |
E155V |
probably damaging |
Het |
Oosp1 |
C |
T |
19: 11,645,158 (GRCm39) |
V169I |
possibly damaging |
Het |
Or13c7c |
C |
T |
4: 43,836,124 (GRCm39) |
R122H |
probably benign |
Het |
Or2t26 |
T |
A |
11: 49,039,842 (GRCm39) |
Y253N |
probably damaging |
Het |
Or5ae2 |
T |
C |
7: 84,505,756 (GRCm39) |
Y60H |
probably damaging |
Het |
Or5p81 |
T |
A |
7: 108,267,460 (GRCm39) |
V279E |
probably damaging |
Het |
Pabpc2 |
T |
C |
18: 39,908,238 (GRCm39) |
V501A |
probably benign |
Het |
Pik3c2a |
A |
G |
7: 115,953,334 (GRCm39) |
V1187A |
probably damaging |
Het |
Pkhd1 |
A |
G |
1: 20,484,516 (GRCm39) |
V2013A |
probably benign |
Het |
Psmd1 |
T |
A |
1: 86,055,914 (GRCm39) |
S759T |
possibly damaging |
Het |
Scgb1b2 |
T |
A |
7: 30,990,089 (GRCm39) |
K86N |
possibly damaging |
Het |
Sdk1 |
T |
C |
5: 142,080,381 (GRCm39) |
I1291T |
probably damaging |
Het |
Skint5 |
T |
C |
4: 113,341,090 (GRCm39) |
Y1396C |
probably benign |
Het |
Slc24a3 |
A |
G |
2: 145,448,746 (GRCm39) |
E380G |
probably benign |
Het |
Spock1 |
A |
G |
13: 57,588,263 (GRCm39) |
S270P |
probably damaging |
Het |
Tmem128 |
T |
C |
5: 38,419,418 (GRCm39) |
S57P |
probably damaging |
Het |
Tmem186 |
G |
A |
16: 8,453,887 (GRCm39) |
R125W |
probably benign |
Het |
Tnfaip3 |
A |
G |
10: 18,882,758 (GRCm39) |
S220P |
probably damaging |
Het |
Usp45 |
T |
C |
4: 21,830,505 (GRCm39) |
|
probably null |
Het |
Usp5 |
C |
T |
6: 124,795,437 (GRCm39) |
|
probably null |
Het |
Vmn1r35 |
A |
T |
6: 66,656,573 (GRCm39) |
C32* |
probably null |
Het |
Vmn2r112 |
T |
A |
17: 22,820,303 (GRCm39) |
F59I |
probably benign |
Het |
Wfdc9 |
A |
T |
2: 164,492,458 (GRCm39) |
S56R |
probably benign |
Het |
Zfp369 |
A |
G |
13: 65,444,806 (GRCm39) |
I650V |
probably benign |
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 |
R3898:Cul2
|
UTSW |
18 |
3,434,033 (GRCm39) |
missense |
probably benign |
0.07 |
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'- TCATGTAGAGACTGATAGGTGTTGC -3'
(R):5'- CACAGGAGCTCACCAAATGG -3'
Sequencing Primer
(F):5'- ACAGTGATGTGCTACCTGC -3'
(R):5'- TGGGGATGGCAATGACCTCAC -3'
|
Posted On |
2015-07-06 |