Mutagenetix > Incidental Mutation

Incidental Mutation 'R5089:Crbn'

387635

Institutional Source

Beutler Lab

Gene Symbol

Crbn

Ensembl Gene

ENSMUSG00000005362

Gene Name

cereblon

Synonyms

2900045O07Rik, 2610203G15Rik

MMRRC Submission

042678-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.391) question?

Stock #

R5089 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106757162-106777038 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106758679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 381 (H381R)

Ref Sequence

ENSEMBL: ENSMUSP00000108865 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013882] [ENSMUST00000057578] [ENSMUST00000113239] [ENSMUST00000113247] [ENSMUST00000113248] [ENSMUST00000113249] [ENSMUST00000151484]

AlphaFold

Q8C7D2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000013882
AA Change: H380R

PolyPhen 2 Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000013882
Gene: ENSMUSG00000005362
AA Change: H380R

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: ENSMUST00000057578

SMART Domains

Protein: ENSMUSP00000060900
Gene: ENSMUSG00000013736

Domain	Start	End	E-Value	Type
Pfam:PolyA_pol	59	182	3.8e-36	PFAM
Pfam:PolyA_pol_RNAbd	215	271	1.4e-14	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113239
AA Change: H381R

PolyPhen 2 Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108865
Gene: ENSMUSG00000005362
AA Change: H381R

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: ENSMUST00000113247

SMART Domains

Protein: ENSMUSP00000108873
Gene: ENSMUSG00000013736

Domain	Start	End	E-Value	Type
Pfam:PolyA_pol	59	182	7.7e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113248

SMART Domains

Protein: ENSMUSP00000108874
Gene: ENSMUSG00000013736

Domain	Start	End	E-Value	Type
Pfam:PolyA_pol	59	182	2.4e-37	PFAM
Pfam:PolyA_pol_RNAbd	215	272	9.3e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113249

SMART Domains

Protein: ENSMUSP00000108875
Gene: ENSMUSG00000013736

Domain	Start	End	E-Value	Type
Pfam:PolyA_pol	59	182	3.8e-36	PFAM
Pfam:PolyA_pol_RNAbd	215	271	1.4e-14	PFAM

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

Meta Mutation Damage Score

0.4451

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

Validation Efficiency

98% (65/66)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	T	C	8: 117,698,672 (GRCm39)	N145S	possibly damaging	Het
Acp2	T	C	2: 91,042,267 (GRCm39)		probably benign	Het
Adgrf2	G	A	17: 43,020,988 (GRCm39)	A612V	probably benign	Het
Bltp1	T	A	3: 37,041,651 (GRCm39)	D2676E	probably benign	Het
Cct3	T	G	3: 88,208,150 (GRCm39)	M46R	probably damaging	Het
Cdc123	T	C	2: 5,809,811 (GRCm39)	D200G	probably benign	Het
Cdh9	T	A	15: 16,778,362 (GRCm39)	F59Y	probably damaging	Het
Cluh	A	G	11: 74,551,198 (GRCm39)	E349G	probably damaging	Het
Col16a1	C	T	4: 129,972,988 (GRCm39)	T643M	probably benign	Het
Col5a1	G	A	2: 27,908,614 (GRCm39)	W67*	probably null	Het
Crim1	A	G	17: 78,681,519 (GRCm39)	D991G	probably damaging	Het
Dhx16	A	T	17: 36,194,981 (GRCm39)	M503L	probably damaging	Het
Dthd1	A	G	5: 63,007,248 (GRCm39)	T650A	probably benign	Het
Etfa	T	A	9: 55,396,150 (GRCm39)	K139*	probably null	Het
Flnc	T	C	6: 29,447,812 (GRCm39)	I1205T	probably damaging	Het
Fzd6	T	A	15: 38,870,875 (GRCm39)	C32S	probably damaging	Het
Gm1110	T	A	9: 26,793,683 (GRCm39)	D515V	probably damaging	Het
Gm7676	T	C	8: 13,946,401 (GRCm39)		noncoding transcript	Het
Gpr157	T	C	4: 150,186,750 (GRCm39)	S293P	possibly damaging	Het
Hc	T	C	2: 34,914,902 (GRCm39)	D810G	probably benign	Het
Helz2	T	C	2: 180,876,942 (GRCm39)	H1184R	probably benign	Het
Hoxc5	A	T	15: 102,922,487 (GRCm39)		probably benign	Het
Iah1	C	T	12: 21,373,309 (GRCm39)	S196L	possibly damaging	Het
Il5	C	T	11: 53,612,655 (GRCm39)	T55I	possibly damaging	Het
Kras	T	C	6: 145,170,869 (GRCm39)	K169E	probably benign	Het
Larp1	C	A	11: 57,938,693 (GRCm39)	T492K	possibly damaging	Het
Lgr5	T	C	10: 115,314,328 (GRCm39)	D203G	probably damaging	Het
Lpcat2	G	A	8: 93,606,071 (GRCm39)	V241M	probably damaging	Het
Mpeg1	G	A	19: 12,440,361 (GRCm39)	M606I	probably benign	Het
Ms4a1	G	A	19: 11,236,176 (GRCm39)	P4S	probably benign	Het
Nat10	A	T	2: 103,587,488 (GRCm39)		probably benign	Het
Ncaph2	T	A	15: 89,240,148 (GRCm39)		probably null	Het
Nfat5	T	A	8: 108,078,070 (GRCm39)	V403D	probably damaging	Het
Or2y10	T	A	11: 49,455,240 (GRCm39)	M164K	possibly damaging	Het
Or4c109	A	G	2: 88,818,516 (GRCm39)	F10S	probably damaging	Het
Pax7	T	C	4: 139,557,576 (GRCm39)	H65R	probably damaging	Het
Phf20	C	A	2: 156,144,782 (GRCm39)	H797N	probably benign	Het
Pkhd1l1	T	A	15: 44,455,283 (GRCm39)	S4015T	probably benign	Het
Prdm5	C	T	6: 65,833,074 (GRCm39)	H148Y	probably benign	Het
Prpf8	A	G	11: 75,400,054 (GRCm39)		probably null	Het
Rangap1	A	C	15: 81,594,664 (GRCm39)	D388E	probably benign	Het
Sardh	A	G	2: 27,129,625 (GRCm39)		probably null	Het
Serpinb6b	G	A	13: 33,162,133 (GRCm39)	E192K	probably benign	Het
Shfl	A	T	9: 20,780,212 (GRCm39)	M1L	probably benign	Het
Skor1	A	G	9: 63,053,205 (GRCm39)	S216P	probably damaging	Het
Slc51a	A	G	16: 32,296,364 (GRCm39)		probably null	Het
Smarcb1	T	C	10: 75,751,013 (GRCm39)	T74A	probably benign	Het
Spg11	A	T	2: 121,945,198 (GRCm39)	Y107*	probably null	Het
Spmip5	A	T	19: 58,774,678 (GRCm39)	L176H	probably damaging	Het
Stk25	T	A	1: 93,552,330 (GRCm39)	K350M	probably benign	Het
Syne1	C	T	10: 5,355,444 (GRCm39)	W379*	probably null	Het
Taco1	A	T	11: 105,960,437 (GRCm39)	E126V	probably benign	Het
Tbc1d12	T	A	19: 38,905,232 (GRCm39)	L649*	probably null	Het
Trpm3	G	A	19: 22,744,120 (GRCm39)	G238R	probably damaging	Het
Yy1	C	A	12: 108,759,663 (GRCm39)	Q109K	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
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
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'- CTGCCACTTCCAAAGTAAAAGGG -3'
(R):5'- AGAATATCTGCCAACCTCCTG -3'

Sequencing Primer
(F):5'- CCACTTCCAAAGTAAAAGGGAGAGC -3'
(R):5'- GAATATCTGCCAACCTCCTGTATAC -3'

Posted On

2016-06-06