Incidental Mutation 'R3766:Crbn'
| ID |
274705 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crbn
|
| Ensembl Gene |
ENSMUSG00000005362 |
| Gene Name |
cereblon |
| Synonyms |
2900045O07Rik, 2610203G15Rik |
| MMRRC Submission |
040743-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.337)
|
| Stock # |
R3766 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
106757162-106777038 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106771987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 106
(K106E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144723
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013882]
[ENSMUST00000113239]
[ENSMUST00000151484]
|
| AlphaFold |
Q8C7D2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000013882
AA Change: K118E
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000013882
Gene: ENSMUSG00000005362
AA Change: K118E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
39 |
N/A |
INTRINSIC |
|
LON
|
82 |
319 |
2.33e-41 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049675
AA Change: K119E
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000061604
Gene: ENSMUSG00000005362
AA Change: K119E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
40 |
N/A |
INTRINSIC |
|
LON
|
83 |
320 |
2.33e-41 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113239
AA Change: K119E
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000108865
Gene: ENSMUSG00000005362
AA Change: K119E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
40 |
N/A |
INTRINSIC |
|
LON
|
83 |
320 |
2.33e-41 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147087
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000151484
AA Change: K106E
PolyPhen 2
Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000144723
Gene: ENSMUSG00000005362
AA Change: K106E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
|
LON
|
70 |
253 |
3.1e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204230
|
| Meta Mutation Damage Score |
0.0602 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (41/42) |
| MGI Phenotype |
FUNCTION: This gene encodes a protein with a Lon protease domain, a "regulators of G protein-signaling" (RGS)-like domain and a leucine zipper. It has been proposed to regulate the assembly and surface expression of large-conductance calcium-activated potassium channels in brain and to bind thalidomide. In humans mutation in this gene causes autosomal recessive nonsyndromic mental retardation. In mouse deficiency of this gene serves as a model to study the molecular mechanisms governing learning and memory as they relate to intellectual disability. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired contextual conditioning behavior. Mice homozygous for another knock-out allele exhibit resistance to diet-induced obesity, liver steatosis, glucose intolerance and insulin resistance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
C |
T |
5: 125,583,326 (GRCm39) |
T294M |
probably damaging |
Het |
| Brf2 |
G |
T |
8: 27,614,496 (GRCm39) |
T230N |
possibly damaging |
Het |
| Ccne2 |
A |
G |
4: 11,199,293 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2nl |
G |
A |
3: 104,912,117 (GRCm39) |
T589I |
probably benign |
Het |
| Dock10 |
A |
G |
1: 80,514,643 (GRCm39) |
S1091P |
probably damaging |
Het |
| Fh1 |
A |
G |
1: 175,442,316 (GRCm39) |
V178A |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 8,003,253 (GRCm39) |
S111P |
probably damaging |
Het |
| Frk |
A |
G |
10: 34,360,001 (GRCm39) |
M1V |
probably null |
Het |
| Gm29394 |
C |
T |
15: 57,912,024 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,813,572 (GRCm39) |
D2601G |
probably damaging |
Het |
| Hspa13 |
T |
C |
16: 75,561,974 (GRCm39) |
D75G |
probably benign |
Het |
| Itgav |
T |
C |
2: 83,632,229 (GRCm39) |
|
probably null |
Het |
| Kif6 |
A |
T |
17: 50,065,671 (GRCm39) |
|
probably benign |
Het |
| Lypla1 |
G |
A |
1: 4,911,201 (GRCm39) |
R104Q |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,570,595 (GRCm39) |
K709E |
unknown |
Het |
| Or52l1 |
A |
T |
7: 104,830,088 (GRCm39) |
I159K |
probably damaging |
Het |
| Or56b1b |
G |
A |
7: 108,164,402 (GRCm39) |
P200L |
probably benign |
Het |
| Pcdhb16 |
A |
T |
18: 37,611,249 (GRCm39) |
K70* |
probably null |
Het |
| Pex5l |
T |
G |
3: 33,061,327 (GRCm39) |
D174A |
probably benign |
Het |
| Plac8l1 |
A |
T |
18: 42,313,460 (GRCm39) |
M94K |
probably benign |
Het |
| Plxna1 |
T |
C |
6: 89,311,757 (GRCm39) |
|
probably benign |
Het |
| Psg26 |
T |
C |
7: 18,208,996 (GRCm39) |
T471A |
probably benign |
Het |
| Pus3 |
C |
A |
9: 35,477,968 (GRCm39) |
T400K |
probably benign |
Het |
| Pxk |
T |
C |
14: 8,136,863 (GRCm38) |
|
probably benign |
Het |
| Rapgef2 |
T |
C |
3: 78,996,057 (GRCm39) |
T569A |
probably benign |
Het |
| Sall4 |
T |
C |
2: 168,597,964 (GRCm39) |
Q292R |
possibly damaging |
Het |
| Slc18b1 |
A |
G |
10: 23,674,647 (GRCm39) |
D34G |
probably damaging |
Het |
| Slc45a1 |
T |
C |
4: 150,722,517 (GRCm39) |
R456G |
probably damaging |
Het |
| Sox13 |
T |
C |
1: 133,318,536 (GRCm39) |
R81G |
possibly damaging |
Het |
| Spag9 |
A |
G |
11: 93,951,109 (GRCm39) |
|
probably benign |
Het |
| Ston1 |
C |
T |
17: 88,942,788 (GRCm39) |
P65S |
probably damaging |
Het |
| Tada2b |
A |
T |
5: 36,633,761 (GRCm39) |
D197E |
probably benign |
Het |
| Tcim |
T |
A |
8: 24,928,765 (GRCm39) |
R50W |
probably damaging |
Het |
| Tnpo3 |
T |
C |
6: 29,579,688 (GRCm39) |
D235G |
probably benign |
Het |
| Trim59 |
A |
G |
3: 68,944,137 (GRCm39) |
V401A |
probably benign |
Het |
| Trpm3 |
A |
C |
19: 22,425,741 (GRCm39) |
Q32P |
probably benign |
Het |
| Tubgcp5 |
T |
A |
7: 55,480,614 (GRCm39) |
M1018K |
probably damaging |
Het |
| Ube2o |
A |
G |
11: 116,437,689 (GRCm39) |
|
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Uvrag |
G |
T |
7: 98,537,350 (GRCm39) |
S615* |
probably null |
Het |
| Vmn2r6 |
T |
A |
3: 64,463,929 (GRCm39) |
I302L |
probably benign |
Het |
| Vmn2r73 |
C |
T |
7: 85,521,198 (GRCm39) |
V257I |
probably benign |
Het |
|
| Other mutations in Crbn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02268:Crbn
|
APN |
6 |
106,772,004 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
PIT4810001:Crbn
|
UTSW |
6 |
106,761,440 (GRCm39) |
nonsense |
probably null |
|
|
R0457:Crbn
|
UTSW |
6 |
106,758,018 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1468:Crbn
|
UTSW |
6 |
106,767,804 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1468:Crbn
|
UTSW |
6 |
106,767,804 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1672:Crbn
|
UTSW |
6 |
106,772,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1710:Crbn
|
UTSW |
6 |
106,767,906 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2255:Crbn
|
UTSW |
6 |
106,772,159 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2427:Crbn
|
UTSW |
6 |
106,760,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3160:Crbn
|
UTSW |
6 |
106,767,827 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3162:Crbn
|
UTSW |
6 |
106,767,827 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3765:Crbn
|
UTSW |
6 |
106,771,987 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4674:Crbn
|
UTSW |
6 |
106,767,932 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4703:Crbn
|
UTSW |
6 |
106,759,883 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5089:Crbn
|
UTSW |
6 |
106,758,679 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5436:Crbn
|
UTSW |
6 |
106,772,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8690:Crbn
|
UTSW |
6 |
106,777,010 (GRCm39) |
unclassified |
probably benign |
|
|
R9229:Crbn
|
UTSW |
6 |
106,777,017 (GRCm39) |
start codon destroyed |
probably null |
0.06 |
|
R9333:Crbn
|
UTSW |
6 |
106,776,984 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGAACAGGGAGGTTTTCC -3'
(R):5'- ACCTGGGAGCTGATATGGAG -3'
Sequencing Primer
(F):5'- GTGGAAGTTTTTCAAGAGCCAAACAC -3'
(R):5'- GGAGTTCCACGGGAGAACTTTG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation