Incidental Mutation 'R3160:Crbn'
| ID |
258101 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crbn
|
| Ensembl Gene |
ENSMUSG00000005362 |
| Gene Name |
cereblon |
| Synonyms |
2900045O07Rik, 2610203G15Rik |
| MMRRC Submission |
040611-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.391)
|
| Stock # |
R3160 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
106757162-106777038 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106767827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 221
(Q221R)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013882]
[ENSMUST00000113239]
[ENSMUST00000151484]
|
| AlphaFold |
Q8C7D2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000013882
AA Change: Q220R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000013882
Gene: ENSMUSG00000005362
AA Change: Q220R
| 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: Q221R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000061604
Gene: ENSMUSG00000005362
AA Change: Q221R
| 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: Q221R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108865
Gene: ENSMUSG00000005362
AA Change: Q221R
| 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 |
probably benign
Transcript: ENSMUST00000151484
AA Change: Q208R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000144723
Gene: ENSMUSG00000005362
AA Change: Q208R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
|
LON
|
70 |
253 |
3.1e-9 |
SMART |
|
| Meta Mutation Damage Score |
0.0579 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy9 |
A |
G |
16: 4,129,452 (GRCm39) |
L715P |
probably damaging |
Het |
| Amer2 |
A |
G |
14: 60,616,000 (GRCm39) |
D65G |
probably damaging |
Het |
| Btnl2 |
T |
C |
17: 34,577,039 (GRCm39) |
W65R |
probably damaging |
Het |
| Camk1g |
T |
C |
1: 193,042,115 (GRCm39) |
T45A |
possibly damaging |
Het |
| Ccdc181 |
T |
A |
1: 164,107,865 (GRCm39) |
S183T |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,738,910 (GRCm39) |
H2311R |
probably benign |
Het |
| Copa |
T |
A |
1: 171,918,800 (GRCm39) |
C127S |
probably damaging |
Het |
| Dapk2 |
T |
G |
9: 66,161,893 (GRCm39) |
V267G |
probably damaging |
Het |
| Decr1 |
T |
A |
4: 15,930,972 (GRCm39) |
D120V |
probably damaging |
Het |
| Dennd1c |
C |
T |
17: 57,373,562 (GRCm39) |
G637D |
possibly damaging |
Het |
| Disp1 |
T |
C |
1: 182,868,806 (GRCm39) |
K1205E |
probably benign |
Het |
| Dnajc13 |
G |
T |
9: 104,097,097 (GRCm39) |
N510K |
possibly damaging |
Het |
| Hnrnpu |
T |
C |
1: 178,158,690 (GRCm39) |
|
probably benign |
Het |
| Iqgap1 |
G |
A |
7: 80,402,086 (GRCm39) |
A393V |
probably benign |
Het |
| Irak2 |
G |
T |
6: 113,649,721 (GRCm39) |
A119S |
probably benign |
Het |
| Itgb2l |
A |
G |
16: 96,238,589 (GRCm39) |
L70P |
probably damaging |
Het |
| Itsn1 |
C |
A |
16: 91,649,932 (GRCm39) |
S202* |
probably null |
Het |
| Mill2 |
A |
C |
7: 18,590,099 (GRCm39) |
E127A |
probably benign |
Het |
| Msh6 |
T |
C |
17: 88,292,909 (GRCm39) |
Y555H |
probably damaging |
Het |
| Myo18b |
A |
C |
5: 112,840,594 (GRCm39) |
S2400A |
probably damaging |
Het |
| Naa25 |
A |
G |
5: 121,573,135 (GRCm39) |
|
probably null |
Het |
| Nop2 |
A |
G |
6: 125,111,555 (GRCm39) |
N96S |
probably benign |
Het |
| Or11g24 |
T |
A |
14: 50,662,488 (GRCm39) |
C171S |
probably damaging |
Het |
| Or13c7b |
T |
A |
4: 43,820,544 (GRCm39) |
K272N |
probably benign |
Het |
| Or2z2 |
T |
C |
11: 58,346,053 (GRCm39) |
T241A |
probably damaging |
Het |
| Or4c52 |
T |
G |
2: 89,845,365 (GRCm39) |
Y30* |
probably null |
Het |
| Pde5a |
T |
A |
3: 122,575,277 (GRCm39) |
L356* |
probably null |
Het |
| Prss59 |
A |
G |
6: 40,903,003 (GRCm39) |
M123T |
probably benign |
Het |
| Ralgapa1 |
A |
T |
12: 55,756,371 (GRCm39) |
N1075K |
probably damaging |
Het |
| Rps2 |
G |
T |
17: 24,939,952 (GRCm39) |
A129S |
probably benign |
Het |
| Serinc2 |
A |
G |
4: 130,154,528 (GRCm39) |
S175P |
probably benign |
Het |
| Socs5 |
A |
T |
17: 87,442,146 (GRCm39) |
Q362L |
probably damaging |
Het |
| Srbd1 |
A |
T |
17: 86,437,643 (GRCm39) |
D233E |
probably benign |
Het |
| Srgap3 |
A |
G |
6: 112,706,619 (GRCm39) |
V826A |
probably benign |
Het |
| Tns2 |
A |
G |
15: 102,021,771 (GRCm39) |
E1118G |
possibly damaging |
Het |
| Topaz1 |
T |
C |
9: 122,578,446 (GRCm39) |
I452T |
probably benign |
Het |
| Tuba8 |
A |
G |
6: 121,199,697 (GRCm39) |
D127G |
possibly damaging |
Het |
| Tulp4 |
A |
G |
17: 6,248,983 (GRCm39) |
M1V |
probably null |
Het |
| Urb1 |
A |
G |
16: 90,594,791 (GRCm39) |
L247P |
probably damaging |
Het |
| Usp32 |
A |
G |
11: 84,916,362 (GRCm39) |
W861R |
probably damaging |
Het |
| Vmn1r48 |
G |
A |
6: 90,013,360 (GRCm39) |
T155I |
probably benign |
Het |
| Vmn2r117 |
A |
G |
17: 23,679,352 (GRCm39) |
L624P |
probably damaging |
Het |
| Vstm5 |
T |
G |
9: 15,168,594 (GRCm39) |
S53A |
probably benign |
Het |
| Yeats2 |
T |
C |
16: 20,012,395 (GRCm39) |
V531A |
probably damaging |
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 |
|
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 |
|
R3766: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'- TTTCATAAATAATGGCCGGCG -3'
(R):5'- CAGTTTGCTTAATAAGGGGAACTTGAG -3'
Sequencing Primer
(F):5'- GGCCGGCGAATTATTTTTAAATCC -3'
(R):5'- GTGCAGATTTTGCCAGAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation