Mutagenetix > Incidental Mutation

Incidental Mutation 'R2362:Cdr2'

247185

Institutional Source

Beutler Lab

Gene Symbol

Cdr2

Ensembl Gene

ENSMUSG00000030878

Gene Name

cerebellar degeneration-related 2

Synonyms

MMRRC Submission

040343-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2362 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120957036-120982312 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 120970331 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 62 (I62L)

Ref Sequence

ENSEMBL: ENSMUSP00000033169 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033169] [ENSMUST00000140247]

AlphaFold

P97817

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033169
AA Change: I62L

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000033169
Gene: ENSMUSG00000030878
AA Change: I62L

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 benign
Transcript: ENSMUST00000140247

Meta Mutation Damage Score

0.4003

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

100% (35/35)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	A	T	6: 132,627,479	M1K	probably null	Het
Aadat	A	G	8: 60,532,298		probably benign	Het
Acsm5	T	C	7: 119,528,426		probably benign	Het
Avl9	A	T	6: 56,736,570	N271I	probably benign	Het
Ccdc30	T	A	4: 119,324,056	N636I	probably damaging	Het
Clk3	T	C	9: 57,754,619	I382V	possibly damaging	Het
Ctsr	T	A	13: 61,162,796	E45V	probably damaging	Het
Cyp2b19	A	G	7: 26,764,377	Y318C	probably damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dapk1	A	G	13: 60,730,931	N578S	probably damaging	Het
Dlg5	A	T	14: 24,158,687	M817K	probably benign	Het
Dtx4	A	G	19: 12,492,535	V76A	probably damaging	Het
Eps15	T	C	4: 109,361,230	V430A	probably benign	Het
Fam160b2	A	G	14: 70,586,365	Y568H	probably benign	Het
Fxyd5	T	C	7: 31,036,471	N104S	probably benign	Het
Gm5155	T	G	7: 17,902,473		noncoding transcript	Het
Ift122	A	G	6: 115,884,350	D193G	probably damaging	Het
Lrrcc1	A	G	3: 14,563,024	E542G	probably damaging	Het
Macc1	T	C	12: 119,447,658		probably benign	Het
Ndst3	T	A	3: 123,552,678	Y234F	possibly damaging	Het
Olfr1477	A	T	19: 13,502,508	H55L	probably damaging	Het
Pes1	T	C	11: 3,977,123	F429S	probably damaging	Het
Polr3e	C	G	7: 120,942,564	D623E	probably damaging	Het
Rapgef6	T	C	11: 54,694,272	Y1494H	probably damaging	Het
Rbm14	T	C	19: 4,801,707		probably benign	Het
Rnf103	A	G	6: 71,510,017	D544G	probably benign	Het
Slc10a7	A	G	8: 78,509,632	I20V	probably damaging	Het
Sort1	C	T	3: 108,346,665	T549I	possibly damaging	Het
Stambpl1	G	A	19: 34,236,354	V328I	probably benign	Het
Thbd	A	G	2: 148,406,364	L528P	probably damaging	Het
Wbp11	A	T	6: 136,824,332	M63K	probably damaging	Het
Wdr11	T	A	7: 129,634,836	I1178N	probably benign	Het

Other mutations in Cdr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01659:Cdr2	APN	7	120958549	missense	probably damaging	0.99
R0394:Cdr2	UTSW	7	120958731	missense	probably benign	0.00
R0975:Cdr2	UTSW	7	120958391	missense	probably benign	0.07
R1781:Cdr2	UTSW	7	120958045	missense	probably benign	0.01
R1906:Cdr2	UTSW	7	120982001	missense	probably damaging	1.00
R2124:Cdr2	UTSW	7	120982027	missense	probably damaging	1.00
R2273:Cdr2	UTSW	7	120958509	missense	possibly damaging	0.71
R2274:Cdr2	UTSW	7	120958509	missense	possibly damaging	0.71
R2275:Cdr2	UTSW	7	120958509	missense	possibly damaging	0.71
R4783:Cdr2	UTSW	7	120958421	missense	probably benign	0.00
R5269:Cdr2	UTSW	7	120958334	missense	possibly damaging	0.95
R5403:Cdr2	UTSW	7	120958745	nonsense	probably null
R5650:Cdr2	UTSW	7	120958336	missense	probably damaging	0.96
R5923:Cdr2	UTSW	7	120982001	missense	probably damaging	1.00
R6384:Cdr2	UTSW	7	120982128	splice site	probably null
R7073:Cdr2	UTSW	7	120982024	missense	probably damaging	1.00
R9004:Cdr2	UTSW	7	120958499	missense	probably benign	0.01
R9111:Cdr2	UTSW	7	120960122	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- AGCATACTTACCTACTAGGCACATC -3'
(R):5'- ACCTGACTTGCATGTGTGGG -3'

Sequencing Primer
(F):5'- CTAGGCACATCTAAAGAAAGTGTC -3'
(R):5'- GGGCTTGCTTCATTTACTTTAAGAAC -3'

Posted On

2014-10-30