Incidental Mutation 'R9333:Crbn'
| ID |
711158 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crbn
|
| Ensembl Gene |
ENSMUSG00000005362 |
| Gene Name |
cereblon |
| Synonyms |
2900045O07Rik, 2610203G15Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.391)
|
| Stock # |
R9333 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
106757162-106777038 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106776984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 12
(H12R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108865
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013882]
[ENSMUST00000113239]
[ENSMUST00000151484]
|
| AlphaFold |
Q8C7D2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000013882
AA Change: H12R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000013882
Gene: ENSMUSG00000005362
AA Change: H12R
| 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: ENSMUST00000113239
AA Change: H12R
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000108865
Gene: ENSMUSG00000005362
AA Change: H12R
| 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: ENSMUST00000151484
|
| SMART Domains |
Protein: ENSMUSP00000144723
Gene: ENSMUSG00000005362
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
|
LON
|
70 |
253 |
3.1e-9 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
G |
T |
4: 123,754,416 (GRCm39) |
G110V |
probably benign |
Het |
| Abraxas1 |
T |
C |
5: 100,959,939 (GRCm39) |
S138G |
probably damaging |
Het |
| Aldoart1 |
C |
T |
4: 72,770,367 (GRCm39) |
R147H |
probably benign |
Het |
| Arfgef1 |
C |
A |
1: 10,222,037 (GRCm39) |
E1556* |
probably null |
Het |
| Arhgap39 |
C |
T |
15: 76,619,325 (GRCm39) |
R753H |
probably damaging |
Het |
| Asb2 |
G |
A |
12: 103,311,955 (GRCm39) |
Q56* |
probably null |
Het |
| Atp8b3 |
T |
C |
10: 80,360,180 (GRCm39) |
I964V |
probably benign |
Het |
| Baiap3 |
C |
A |
17: 25,467,676 (GRCm39) |
R338L |
possibly damaging |
Het |
| Clcn4 |
T |
A |
7: 7,292,192 (GRCm39) |
M540L |
probably damaging |
Het |
| D6Wsu163e |
A |
G |
6: 126,952,096 (GRCm39) |
Y530C |
probably damaging |
Het |
| Dolpp1 |
T |
A |
2: 30,287,140 (GRCm39) |
F191I |
probably damaging |
Het |
| Fam217a |
T |
C |
13: 35,100,876 (GRCm39) |
T94A |
probably benign |
Het |
| Fanci |
T |
C |
7: 79,067,594 (GRCm39) |
W347R |
possibly damaging |
Het |
| Fbxo39 |
A |
T |
11: 72,208,349 (GRCm39) |
N234Y |
probably damaging |
Het |
| Fbxo4 |
A |
G |
15: 3,998,502 (GRCm39) |
S319P |
probably benign |
Het |
| Gm14403 |
A |
G |
2: 177,200,919 (GRCm39) |
N46S |
probably benign |
Het |
| Grm2 |
C |
A |
9: 106,525,416 (GRCm39) |
R433L |
possibly damaging |
Het |
| Gtf2i |
C |
T |
5: 134,271,840 (GRCm39) |
D855N |
probably benign |
Het |
| Hcn2 |
T |
A |
10: 79,561,991 (GRCm39) |
M329K |
possibly damaging |
Het |
| Hsd3b3 |
T |
C |
3: 98,649,216 (GRCm39) |
D369G |
probably benign |
Het |
| Kctd12 |
T |
C |
14: 103,219,054 (GRCm39) |
K275E |
probably damaging |
Het |
| Klra4 |
T |
A |
6: 130,021,080 (GRCm39) |
K238N |
probably damaging |
Het |
| Kremen2 |
T |
A |
17: 23,962,775 (GRCm39) |
T104S |
probably damaging |
Het |
| Lmf2 |
G |
A |
15: 89,239,577 (GRCm39) |
L26F |
probably damaging |
Het |
| Mageb3 |
A |
T |
2: 121,784,973 (GRCm39) |
V243E |
probably damaging |
Het |
| Mfsd10 |
A |
G |
5: 34,792,427 (GRCm39) |
V258A |
probably damaging |
Het |
| Myh10 |
A |
C |
11: 68,680,980 (GRCm39) |
Q1007P |
probably benign |
Het |
| Ndufaf5 |
A |
G |
2: 140,035,513 (GRCm39) |
E243G |
probably benign |
Het |
| Or2ag16 |
T |
C |
7: 106,351,782 (GRCm39) |
D271G |
probably damaging |
Het |
| Orm3 |
T |
C |
4: 63,274,528 (GRCm39) |
I31T |
probably damaging |
Het |
| Pgm2 |
C |
A |
5: 64,263,100 (GRCm39) |
T249K |
probably benign |
Het |
| Prcp |
T |
C |
7: 92,577,894 (GRCm39) |
Y388H |
probably damaging |
Het |
| Prmt3 |
T |
G |
7: 49,456,308 (GRCm39) |
I306M |
probably damaging |
Het |
| Rag2 |
A |
T |
2: 101,460,752 (GRCm39) |
D354V |
probably benign |
Het |
| Reep1 |
A |
G |
6: 71,772,198 (GRCm39) |
D162G |
probably damaging |
Het |
| Rnpep |
A |
T |
1: 135,191,862 (GRCm39) |
W575R |
probably damaging |
Het |
| Rpl28 |
T |
C |
7: 4,796,079 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
A |
C |
7: 28,774,214 (GRCm39) |
|
probably null |
Het |
| Spg11 |
G |
A |
2: 121,932,244 (GRCm39) |
R533C |
probably damaging |
Het |
| Tcf7l2 |
C |
A |
19: 55,919,928 (GRCm39) |
S487* |
probably null |
Het |
| Usp39 |
T |
C |
6: 72,314,710 (GRCm39) |
N232S |
probably benign |
Het |
| Vmn2r26 |
C |
T |
6: 124,003,009 (GRCm39) |
P140S |
probably benign |
Het |
| Vmn2r34 |
C |
T |
7: 7,675,367 (GRCm39) |
V674I |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATTTTCAGGGAGGCCGGC -3'
(R):5'- AGATGGTCCTCTTCATTTGGC -3'
Sequencing Primer
(F):5'- GGAAACCAAAGTCCGTGGCC -3'
(R):5'- ATTTGGCTCCGCTGTGC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation