Incidental Mutation 'IGL01659:Cdr2'
ID103101
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdr2
Ensembl Gene ENSMUSG00000030878
Gene Namecerebellar degeneration-related 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01659
Quality Score
Status
Chromosome7
Chromosomal Location120957036-120982312 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 120958549 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Glutamic Acid at position 251 (A251E)
Ref Sequence ENSEMBL: ENSMUSP00000033169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033169] [ENSMUST00000140247]
Predicted Effect probably damaging
Transcript: ENSMUST00000033169
AA Change: A251E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000033169
Gene: ENSMUSG00000030878
AA Change: A251E

DomainStartEndE-ValueType
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
Coding Region Coverage
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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A T 8: 24,870,774 probably benign Het
Ankrd11 A G 8: 122,895,371 S581P probably damaging Het
Arl13b T C 16: 62,802,750 S370G possibly damaging Het
Clec4a4 A T 6: 123,023,935 E202D probably damaging Het
Col14a1 T A 15: 55,446,172 probably benign Het
Dhfr A T 13: 92,355,670 probably null Het
Flnc A G 6: 29,448,671 T1303A probably damaging Het
Mug1 A T 6: 121,870,660 probably benign Het
Napepld A G 5: 21,675,716 V227A probably damaging Het
Nf1 A G 11: 79,559,449 E487G probably benign Het
Nlrp2 A G 7: 5,328,035 L454P probably damaging Het
Olfr1049 A T 2: 86,255,185 C169* probably null Het
Rad51 T A 2: 119,118,702 I61K probably benign Het
Rfx8 A T 1: 39,670,573 H431Q probably damaging Het
Sspo A G 6: 48,474,443 N2725S probably damaging Het
Trim16 A G 11: 62,820,695 E64G probably benign Het
Zfp879 T C 11: 50,838,454 Y39C probably damaging Het
Other mutations in Cdr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R2362:Cdr2 UTSW 7 120970331 missense possibly damaging 0.77
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 unclassified probably null
R7073:Cdr2 UTSW 7 120982024 missense probably damaging 1.00
Posted On2014-01-21