Mutagenetix > Incidental Mutation

Incidental Mutation 'R6384:Cdr2'

515504

Institutional Source

Beutler Lab

Gene Symbol

Cdr2

Ensembl Gene

ENSMUSG00000030878

Gene Name

cerebellar degeneration-related 2

Synonyms

MMRRC Submission

044533-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6384 (G1)

Quality Score

87.0076

Status

Not validated

Chromosome

Chromosomal Location

120556259-120581535 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 120581351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150654 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033166] [ENSMUST00000033169] [ENSMUST00000138177] [ENSMUST00000140247] [ENSMUST00000149535] [ENSMUST00000216241]

AlphaFold

P97817

Predicted Effect

probably null
Transcript: ENSMUST00000033166

SMART Domains

Protein: ENSMUSP00000033166
Gene: ENSMUSG00000030877

Domain	Start	End	E-Value	Type
Pfam:MFS_2	9	439	5.1e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000033169

SMART Domains

Protein: ENSMUSP00000033169
Gene: ENSMUSG00000030878

Domain	Start	End	E-Value	Type
low complexity region	22	31	N/A	INTRINSIC
coiled coil region	37	141	N/A	INTRINSIC
coiled coil region	191	258	N/A	INTRINSIC
coiled coil region	345	374	N/A	INTRINSIC
low complexity region	403	421	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000138177

Predicted Effect

probably benign
Transcript: ENSMUST00000140247

Predicted Effect

probably null
Transcript: ENSMUST00000149535

SMART Domains

Protein: ENSMUSP00000115341
Gene: ENSMUSG00000030877

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
transmembrane domain	75	97	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207722

Predicted Effect

probably null
Transcript: ENSMUST00000216241

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a reporter allele are viable, fertile, and overtly normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	A	5: 121,790,066 (GRCm39)	T97S	probably benign	Het
Adam34	T	A	8: 44,103,836 (GRCm39)	D603V	probably benign	Het
Adamts5	C	T	16: 85,659,716 (GRCm39)	V859I	probably benign	Het
Alb	T	A	5: 90,620,499 (GRCm39)	D536E	possibly damaging	Het
Amz2	A	G	11: 109,319,860 (GRCm39)	Y82C	probably damaging	Het
Asxl1	T	C	2: 153,233,744 (GRCm39)		probably null	Het
Bach1	C	T	16: 87,516,745 (GRCm39)	Q429*	probably null	Het
Bcl6	A	G	16: 23,793,615 (GRCm39)	Y111H	probably damaging	Het
Ccnj	T	C	19: 40,834,451 (GRCm39)	V338A	probably benign	Het
Cdca3	C	T	6: 124,809,382 (GRCm39)	P174L	probably damaging	Het
Cdk17	T	C	10: 93,047,827 (GRCm39)	L25P	probably damaging	Het
Cyp2c38	A	T	19: 39,380,737 (GRCm39)		probably null	Het
Ednra	T	C	8: 78,415,723 (GRCm39)	N175D	probably damaging	Het
Elp3	T	C	14: 65,797,660 (GRCm39)	Y337C	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Eps15l1	A	T	8: 73,122,554 (GRCm39)		probably null	Het
F11r	A	G	1: 171,288,508 (GRCm39)	N117S	probably benign	Het
Foxp2	C	T	6: 15,437,947 (GRCm39)	T716I	probably damaging	Het
Gnaq	A	G	19: 16,293,377 (GRCm39)		probably null	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Gpr158	T	C	2: 21,831,099 (GRCm39)	M733T	probably damaging	Het
Hdac7	G	A	15: 97,709,387 (GRCm39)	Q48*	probably null	Het
Hmga2	G	A	10: 120,206,612 (GRCm39)		probably benign	Het
Itgb7	A	G	15: 102,132,886 (GRCm39)	V142A	probably benign	Het
Kif5a	T	C	10: 127,078,644 (GRCm39)	N334D	probably damaging	Het
Lrrc47	T	C	4: 154,100,317 (GRCm39)	S298P	probably benign	Het
Map3k1	A	T	13: 111,887,064 (GRCm39)	S1415R	probably damaging	Het
Mdn1	T	A	4: 32,670,607 (GRCm39)	L424Q	probably damaging	Het
Numb	A	C	12: 83,850,748 (GRCm39)	L154R	probably damaging	Het
Or8g27	T	C	9: 39,129,274 (GRCm39)	V207A	probably benign	Het
Or8k30	A	G	2: 86,339,381 (GRCm39)	K193E	probably benign	Het
Pdcd5	G	T	7: 35,346,334 (GRCm39)	A92E	possibly damaging	Het
Pdcl2	C	T	5: 76,478,855 (GRCm39)		probably null	Het
Rbfa	T	C	18: 80,235,996 (GRCm39)	Y251C	probably damaging	Het
Rgsl1	G	A	1: 153,703,291 (GRCm39)	T120I	possibly damaging	Het
Serpina3g	A	G	12: 104,206,655 (GRCm39)	Q152R	probably null	Het
Setx	T	C	2: 29,063,570 (GRCm39)	S2289P	probably damaging	Het
Slc6a16	A	G	7: 44,907,017 (GRCm39)		probably null	Het
Slco1a6	C	T	6: 142,055,105 (GRCm39)	D280N	probably benign	Het
Syde2	T	A	3: 145,704,568 (GRCm39)	Y240N	probably damaging	Het
Synpo2	G	A	3: 122,906,698 (GRCm39)	Q873*	probably null	Het
Tlr2	A	G	3: 83,744,301 (GRCm39)	V594A	probably benign	Het
Ttc16	C	T	2: 32,657,561 (GRCm39)	A512T	probably damaging	Het
Tubb5	T	C	17: 36,148,938 (GRCm39)	E3G	probably damaging	Het
Vmn2r112	T	C	17: 22,824,136 (GRCm39)	Y464H	probably damaging	Het
Xcr1	T	A	9: 123,684,847 (GRCm39)	H305L	probably damaging	Het
Yars1	T	G	4: 129,090,771 (GRCm39)		probably null	Het

Other mutations in Cdr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01659:Cdr2	APN	7	120,557,772 (GRCm39)	missense	probably damaging	0.99
R0394:Cdr2	UTSW	7	120,557,954 (GRCm39)	missense	probably benign	0.00
R0975:Cdr2	UTSW	7	120,557,614 (GRCm39)	missense	probably benign	0.07
R1781:Cdr2	UTSW	7	120,557,268 (GRCm39)	missense	probably benign	0.01
R1906:Cdr2	UTSW	7	120,581,224 (GRCm39)	missense	probably damaging	1.00
R2124:Cdr2	UTSW	7	120,581,250 (GRCm39)	missense	probably damaging	1.00
R2273:Cdr2	UTSW	7	120,557,732 (GRCm39)	missense	possibly damaging	0.71
R2274:Cdr2	UTSW	7	120,557,732 (GRCm39)	missense	possibly damaging	0.71
R2275:Cdr2	UTSW	7	120,557,732 (GRCm39)	missense	possibly damaging	0.71
R2362:Cdr2	UTSW	7	120,569,554 (GRCm39)	missense	possibly damaging	0.77
R4783:Cdr2	UTSW	7	120,557,644 (GRCm39)	missense	probably benign	0.00
R5269:Cdr2	UTSW	7	120,557,557 (GRCm39)	missense	possibly damaging	0.95
R5403:Cdr2	UTSW	7	120,557,968 (GRCm39)	nonsense	probably null
R5650:Cdr2	UTSW	7	120,557,559 (GRCm39)	missense	probably damaging	0.96
R5923:Cdr2	UTSW	7	120,581,224 (GRCm39)	missense	probably damaging	1.00
R7073:Cdr2	UTSW	7	120,581,247 (GRCm39)	missense	probably damaging	1.00
R9004:Cdr2	UTSW	7	120,557,722 (GRCm39)	missense	probably benign	0.01
R9111:Cdr2	UTSW	7	120,559,345 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

Posted On

2018-05-04