Mutagenetix > Incidental Mutation

Incidental Mutation 'R4674:Crbn'

348695

Institutional Source

Beutler Lab

Gene Symbol

Crbn

Ensembl Gene

ENSMUSG00000005362

Gene Name

cereblon

Synonyms

2900045O07Rik, 2610203G15Rik

MMRRC Submission

041929-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.337) question?

Stock #

R4674 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106757162-106777038 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106767932 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 173 (Q173L)

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: Q185L

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000013882
Gene: ENSMUSG00000005362
AA Change: Q185L

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: Q186L

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000108865
Gene: ENSMUSG00000005362
AA Change: Q186L

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: Q173L

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144723
Gene: ENSMUSG00000005362
AA Change: Q173L

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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	C	5: 8,860,615 (GRCm39)	I112T	probably benign	Het
Acvr1b	T	C	15: 101,100,939 (GRCm39)	I367T	possibly damaging	Het
Akr1b8	G	A	6: 34,333,359 (GRCm39)		probably null	Het
Ash1l	T	C	3: 88,979,783 (GRCm39)	V2769A	possibly damaging	Het
Asxl3	A	T	18: 22,650,795 (GRCm39)	D928V	probably damaging	Het
Atp1a4	A	T	1: 172,085,223 (GRCm39)	V66E	possibly damaging	Het
Cald1	AAGAGAGAGAGAGAG	AAGAGAGAGAGAG	6: 34,723,108 (GRCm39)		probably null	Het
Cbx2	T	A	11: 118,919,935 (GRCm39)	I500N	probably damaging	Het
Ccdc82	A	T	9: 13,252,260 (GRCm39)	H184L	probably benign	Het
Cd84	A	T	1: 171,700,887 (GRCm39)	H216L	possibly damaging	Het
Ceacam15	T	C	7: 16,407,410 (GRCm39)	T36A	probably benign	Het
Cebpd	A	G	16: 15,705,385 (GRCm39)	D66G	probably damaging	Het
Clec1b	C	A	6: 129,377,097 (GRCm39)	L47I	probably damaging	Het
Cracr2b	A	G	7: 141,043,451 (GRCm39)	D43G	probably damaging	Het
Cspg4	T	C	9: 56,805,489 (GRCm39)	V2100A	probably damaging	Het
Cyp46a1	T	C	12: 108,324,345 (GRCm39)	L374P	probably damaging	Het
Dhx16	T	A	17: 36,196,831 (GRCm39)	V607E	probably damaging	Het
Dido1	A	G	2: 180,329,352 (GRCm39)	S357P	probably damaging	Het
Dnah6	T	A	6: 73,169,405 (GRCm39)	I399F	probably benign	Het
Dock10	T	C	1: 80,584,337 (GRCm39)	E123G	possibly damaging	Het
Dstyk	A	G	1: 132,391,128 (GRCm39)	D843G	probably benign	Het
Efcab12	C	A	6: 115,800,610 (GRCm39)	V138F	probably damaging	Het
Egf	A	G	3: 129,511,689 (GRCm39)	F493L	probably damaging	Het
Ephx1	A	G	1: 180,822,256 (GRCm39)	F220S	probably damaging	Het
Exoc6	T	C	19: 37,597,530 (GRCm39)	F644L	probably damaging	Het
F13b	A	G	1: 139,429,542 (GRCm39)	Y20C	unknown	Het
Fam184b	T	A	5: 45,740,230 (GRCm39)	K319*	probably null	Het
Flrt2	T	A	12: 95,747,462 (GRCm39)	L600*	probably null	Het
Gbgt1	T	C	2: 28,388,453 (GRCm39)	F46S	possibly damaging	Het
Gli2	T	C	1: 118,763,759 (GRCm39)	E1464G	probably damaging	Het
Hdac9	A	G	12: 34,423,959 (GRCm39)	V501A	possibly damaging	Het
Heca	T	C	10: 17,791,057 (GRCm39)	H333R	probably benign	Het
Hirip3	G	A	7: 126,463,834 (GRCm39)		probably null	Het
Igsf8	G	A	1: 172,146,479 (GRCm39)	W51*	probably null	Het
Kif21a	C	A	15: 90,824,748 (GRCm39)	R1342L	possibly damaging	Het
Krt73	T	C	15: 101,710,510 (GRCm39)	N75D	probably benign	Het
Macf1	T	A	4: 123,366,190 (GRCm39)	Y1292F	probably benign	Het
Macroh2a1	A	C	13: 56,230,997 (GRCm39)	C297G	possibly damaging	Het
Mapk14	A	G	17: 28,963,996 (GRCm39)		probably null	Het
Mgat5	T	A	1: 127,318,495 (GRCm39)	V330D	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Naip1	A	T	13: 100,580,682 (GRCm39)	F188L	probably damaging	Het
Ncoa3	T	C	2: 165,901,731 (GRCm39)	S1035P	probably benign	Het
Ndn	T	A	7: 61,998,570 (GRCm39)	W139R	probably damaging	Het
Nes	T	C	3: 87,879,102 (GRCm39)	V198A	possibly damaging	Het
Or4c107	G	T	2: 88,789,216 (GRCm39)	M135I	probably damaging	Het
Or4c35	A	G	2: 89,808,250 (GRCm39)	I43V	possibly damaging	Het
Or51ab3	T	G	7: 103,201,183 (GRCm39)	L64V	probably damaging	Het
Or52p1	T	A	7: 104,267,631 (GRCm39)	C248*	probably null	Het
Or5b111	T	A	19: 13,291,178 (GRCm39)	H157L	probably benign	Het
Or5p72	T	C	7: 108,022,309 (GRCm39)	V177A	possibly damaging	Het
Pcf11	G	A	7: 92,308,985 (GRCm39)		probably benign	Het
Pde1a	TCC	TC	2: 79,728,525 (GRCm39)		probably benign	Het
Pipox	T	G	11: 77,784,596 (GRCm39)	Q4P	probably benign	Het
Pla2g4c	C	T	7: 13,077,439 (GRCm39)	T327I	probably null	Het
Plppr1	C	T	4: 49,323,384 (GRCm39)	R225W	probably damaging	Het
Pnpla6	T	A	8: 3,571,412 (GRCm39)	V145D	probably damaging	Het
Pnpla7	T	C	2: 24,942,329 (GRCm39)	Y83H	probably damaging	Het
Rif1	T	A	2: 51,996,954 (GRCm39)	L970Q	probably null	Het
Rimklb	C	A	6: 122,433,242 (GRCm39)	E303*	probably null	Het
Rpl13a	A	T	7: 44,776,242 (GRCm39)		probably benign	Het
Rttn	T	A	18: 89,029,135 (GRCm39)		probably null	Het
Sf3b3	G	A	8: 111,571,137 (GRCm39)	R10W	probably damaging	Het
Skint4	G	A	4: 111,975,430 (GRCm39)	C130Y	probably damaging	Het
Snap91	A	G	9: 86,674,070 (GRCm39)	S593P	possibly damaging	Het
Ssb	A	G	2: 69,699,194 (GRCm39)	Q209R	probably benign	Het
Stap1	A	T	5: 86,229,044 (GRCm39)	I71L	probably benign	Het
Syna	C	A	5: 134,587,209 (GRCm39)	R580L	probably damaging	Het
Tacc2	T	A	7: 130,226,591 (GRCm39)	M1111K	possibly damaging	Het
Tanc2	T	C	11: 105,758,306 (GRCm39)	L689P	probably damaging	Het
Tasor2	T	C	13: 3,623,686 (GRCm39)	E1406G	possibly damaging	Het
Tcstv7b	T	C	13: 120,702,362 (GRCm39)	W53R	probably damaging	Het
Tdrd5	A	C	1: 156,105,005 (GRCm39)	C463W	probably damaging	Het
Tet1	A	G	10: 62,674,627 (GRCm39)	F1150L	probably damaging	Het
Tia1	T	A	6: 86,397,382 (GRCm39)	F118L	probably damaging	Het
Trav3-1	A	T	14: 52,818,460 (GRCm39)	T45S	possibly damaging	Het
Uaca	A	T	9: 60,761,711 (GRCm39)	Y235F	possibly damaging	Het
Ube4b	T	C	4: 149,415,827 (GRCm39)	N44S	possibly damaging	Het
Vmn2r93	T	A	17: 18,525,255 (GRCm39)	H304Q	probably benign	Het
Wdr18	A	G	10: 79,801,069 (GRCm39)	I161V	probably benign	Het
Zfp112	A	G	7: 23,826,399 (GRCm39)	H789R	probably damaging	Het
Zfp873	A	G	10: 81,895,814 (GRCm39)	T182A	possibly damaging	Het
Zscan2	T	A	7: 80,525,150 (GRCm39)	S290R	probably damaging	Het
Zup1	A	T	10: 33,824,980 (GRCm39)	D167E	possibly 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
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'- GGGAGCTACAGTGTCAACAG -3'
(R):5'- AGATGTGTCAAGATAATCTGTAGCCTC -3'

Sequencing Primer
(F):5'- GAGCTACAGTGTCAACAGAATATC -3'
(R):5'- CAAGATAATCTGTAGCCTCTATGATG -3'

Posted On

2015-10-08