Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4810001:Crbn'

556841

Institutional Source

Beutler Lab

Gene Symbol

Crbn

Ensembl Gene

ENSMUSG00000005362

Gene Name

cereblon

Synonyms

2900045O07Rik, 2610203G15Rik

Accession Numbers

Essential gene?

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

Stock #

PIT4810001 (G1)

Quality Score

162.009

Status

Not validated

Chromosome

Chromosomal Location

106757162-106777038 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 106761440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 233 (R233*)

Ref Sequence

ENSEMBL: ENSMUSP00000108865 (fasta)

Gene Model

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

AlphaFold

Q8C7D2

Predicted Effect

probably null
Transcript: ENSMUST00000013882
AA Change: R232*

SMART Domains

Protein: ENSMUSP00000013882
Gene: ENSMUSG00000005362
AA Change: R232*

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

probably null
Transcript: ENSMUST00000113239
AA Change: R233*

SMART Domains

Protein: ENSMUSP00000108865
Gene: ENSMUSG00000005362
AA Change: R233*

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: 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 null
Transcript: ENSMUST00000151484
AA Change: R220*

SMART Domains

Protein: ENSMUSP00000144723
Gene: ENSMUSG00000005362
AA Change: R220*

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: 93.8%
3x: 91.1%
10x: 85.1%
20x: 72.2%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	A	G	16: 90,852,822 (GRCm39)	S105P	probably damaging	Het
Adtrp	C	T	13: 41,981,724 (GRCm39)	W48*	probably null	Het
Agxt2	A	T	15: 10,399,151 (GRCm39)	M413L	probably benign	Het
Ahnak2	T	A	12: 112,749,214 (GRCm39)	D211V		Het
Aplnr	T	A	2: 84,967,628 (GRCm39)	C218S	probably damaging	Het
Arhgdib	T	A	6: 136,901,162 (GRCm39)	E189V	probably damaging	Het
Atp10a	T	C	7: 58,463,596 (GRCm39)	I1043T	probably damaging	Het
Atp13a5	C	T	16: 29,133,382 (GRCm39)	C468Y	probably damaging	Het
Cars2	A	T	8: 11,564,699 (GRCm39)	C459S	probably benign	Het
Ccr3	T	A	9: 123,829,645 (GRCm39)	Y327N	probably benign	Het
Ceacam1	T	A	7: 25,171,400 (GRCm39)	I355F	probably damaging	Het
Celsr3	T	C	9: 108,722,932 (GRCm39)	L2773P	probably damaging	Het
Ces2g	A	T	8: 105,691,521 (GRCm39)	H192L	possibly damaging	Het
Cfap157	A	G	2: 32,671,444 (GRCm39)	F121L	probably damaging	Het
Champ1	G	A	8: 13,929,234 (GRCm39)	S464N	probably benign	Het
Clasp2	T	A	9: 113,735,135 (GRCm39)	L990Q	probably damaging	Het
Col6a3	A	T	1: 90,706,516 (GRCm39)	L2806Q	unknown	Het
Cpz	T	C	5: 35,665,536 (GRCm39)	E435G	possibly damaging	Het
Ctc1	C	T	11: 68,913,352 (GRCm39)	T116I	probably benign	Het
Cyp4f17	T	C	17: 32,743,574 (GRCm39)	S314P	possibly damaging	Het
Dmxl1	A	G	18: 50,065,030 (GRCm39)	E2625G	probably damaging	Het
Dock7	T	A	4: 98,833,796 (GRCm39)	R1874*	probably null	Het
E130311K13Rik	A	T	3: 63,823,122 (GRCm39)	L174*	probably null	Het
Etnppl	A	G	3: 130,414,363 (GRCm39)	D86G	probably benign	Het
Fbxw18	C	A	9: 109,505,958 (GRCm39)	E438*	probably null	Het
Gpatch8	T	C	11: 102,372,668 (GRCm39)	N290S	unknown	Het
Gpr155	A	C	2: 73,178,607 (GRCm39)	L727R	probably benign	Het
Gpr158	C	G	2: 21,831,682 (GRCm39)	D927E	probably benign	Het
Igsf10	T	C	3: 59,225,903 (GRCm39)	Y2590C	probably damaging	Het
Ints7	A	G	1: 191,328,348 (GRCm39)	D207G	probably damaging	Het
Iqsec1	A	G	6: 90,647,473 (GRCm39)	L743P	probably damaging	Het
Kansl1l	A	T	1: 66,801,308 (GRCm39)	S553T	probably damaging	Het
Klhl14	G	T	18: 21,690,880 (GRCm39)	Y523*	probably null	Het
Krtap14	A	G	16: 88,622,515 (GRCm39)	S155P	probably damaging	Het
Lrrc3b	A	G	14: 15,358,273 (GRCm38)	V111A	probably benign	Het
Maml2	A	G	9: 13,531,320 (GRCm39)	N178S		Het
Megf8	G	A	7: 25,041,710 (GRCm39)	C1208Y	probably damaging	Het
Mocos	A	G	18: 24,819,759 (GRCm39)	D667G	probably damaging	Het
Nid2	A	G	14: 19,860,158 (GRCm39)	T1359A	possibly damaging	Het
Nup210	T	C	6: 91,007,106 (GRCm39)	E1357G	probably damaging	Het
Or2d2	A	T	7: 106,727,766 (GRCm39)	M278K	probably benign	Het
Or4a2	A	T	2: 89,248,297 (GRCm39)	H153Q	probably damaging	Het
Or9s15	T	A	1: 92,524,876 (GRCm39)	F212I	probably benign	Het
Pign	A	G	1: 105,525,487 (GRCm39)	V447A	possibly damaging	Het
Pomp	T	C	5: 147,806,229 (GRCm39)	L57P	probably benign	Het
Pou2af2	C	T	9: 51,202,992 (GRCm39)	G54D	possibly damaging	Het
Rbms3	T	A	9: 116,885,861 (GRCm39)	Y128F	probably damaging	Het
Slc12a4	A	G	8: 106,678,228 (GRCm39)	F322L	probably benign	Het
Slc16a9	T	A	10: 70,119,762 (GRCm39)	C468*	probably null	Het
Slc22a18	A	G	7: 143,046,668 (GRCm39)	I271V	probably benign	Het
Slc25a41	A	G	17: 57,346,933 (GRCm39)	V20A	possibly damaging	Het
Smim7	A	T	8: 73,324,857 (GRCm39)	L6Q	probably damaging	Het
Snx29	T	C	16: 11,218,845 (GRCm39)	V227A	probably damaging	Het
Sowaha	A	T	11: 53,369,290 (GRCm39)	L482Q	probably damaging	Het
Srp19	A	G	18: 34,467,523 (GRCm39)	Y68C	probably damaging	Het
Tecr	A	G	8: 84,298,884 (GRCm39)	S298P	probably damaging	Het
Terb2	T	A	2: 122,035,379 (GRCm39)	I200N	probably damaging	Het
Togaram1	G	A	12: 65,030,286 (GRCm39)	S1030N	probably damaging	Het
Trav7n-4	A	G	14: 53,329,193 (GRCm39)	M68V	probably benign	Het
Tshz1	A	C	18: 84,031,375 (GRCm39)	L1011R	possibly damaging	Het
Tubb3	A	G	8: 124,148,396 (GRCm39)	E443G	possibly damaging	Het
Uba5	A	T	9: 103,932,396 (GRCm39)	I189K	probably damaging	Het
Vasn	A	G	16: 4,467,909 (GRCm39)	T619A	probably benign	Het
Wbp1l	A	G	19: 46,642,761 (GRCm39)	D254G	probably benign	Het
Zzef1	T	C	11: 72,741,571 (GRCm39)	F738L	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
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
R9333:Crbn	UTSW	6	106,776,984 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CGCGTTAATGATGCAGAGATAAGC -3'
(R):5'- CATTGCAGATAATCACCTTCCGTG -3'

Sequencing Primer
(F):5'- GCAGAGATAAGCAACAATATACTTGC -3'
(R):5'- CACCTTCCGTGAGATGTGAATAC -3'

Posted On

2019-06-07