Incidental Mutation 'IGL02971:Cdr2l'
ID365813
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdr2l
Ensembl Gene ENSMUSG00000050910
Gene Namecerebellar degeneration-related protein 2-like
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.165) question?
Stock #IGL02971
Quality Score
Status
Chromosome11
Chromosomal Location115381916-115396132 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 115390900 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 77 (N77S)
Ref Sequence ENSEMBL: ENSMUSP00000052096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053288]
Predicted Effect probably damaging
Transcript: ENSMUST00000053288
AA Change: N77S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052096
Gene: ENSMUSG00000050910
AA Change: N77S

DomainStartEndE-ValueType
coiled coil region 31 143 N/A INTRINSIC
coiled coil region 188 267 N/A INTRINSIC
low complexity region 303 310 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930018P22Rik C T 2: 104,123,219 T130I probably benign Het
Ahi1 T C 10: 21,000,551 L787P possibly damaging Het
Atf3 A G 1: 191,177,443 S10P probably benign Het
Cnp A G 11: 100,576,699 D156G probably benign Het
Cntn3 A T 6: 102,168,933 D982E probably damaging Het
Col22a1 A G 15: 72,006,738 L190S probably damaging Het
Csmd3 C T 15: 47,913,929 probably benign Het
Dnah5 A G 15: 28,384,461 D3117G probably damaging Het
Dock5 T C 14: 67,757,109 E1834G probably null Het
Eea1 A G 10: 96,041,527 T1368A probably benign Het
Fam83f T C 15: 80,672,149 V78A probably benign Het
Fcgbp G A 7: 28,101,473 V1315I probably damaging Het
Fsd2 A T 7: 81,548,923 Y364* probably null Het
Gm21976 G A 13: 98,302,549 G16R probably null Het
Guca2b A G 4: 119,657,688 S59P probably damaging Het
Hars2 A G 18: 36,786,178 E123G probably damaging Het
Hdac2 A T 10: 37,000,374 K462* probably null Het
Huwe1 T A X: 151,927,626 probably benign Het
Iqgap3 T A 3: 88,090,304 N262K probably benign Het
Kat6b A G 14: 21,669,758 S1502G probably damaging Het
Mapkapk3 A T 9: 107,257,080 D328E probably benign Het
Mgea5 A G 19: 45,762,243 F671S probably damaging Het
Naca C T 10: 128,041,568 probably benign Het
Npffr1 T C 10: 61,614,139 V64A probably damaging Het
Olfr331 A G 11: 58,502,385 L57P probably damaging Het
Olfr918 T A 9: 38,673,268 M72L probably damaging Het
Pcca A G 14: 122,889,533 D718G probably damaging Het
Pde6a A C 18: 61,264,255 D670A probably damaging Het
Pramel7 T A 2: 87,490,073 E292V probably benign Het
Prmt9 A C 8: 77,565,069 M357L probably benign Het
Ptgfr A T 3: 151,835,326 S182T probably benign Het
Rtraf A T 14: 19,816,192 M152K possibly damaging Het
Satb1 T C 17: 51,742,689 D579G possibly damaging Het
Serpinb6a A G 13: 33,931,470 probably null Het
Slc5a9 T C 4: 111,890,300 I297V possibly damaging Het
Slf1 T A 13: 77,047,104 probably benign Het
St8sia2 C T 7: 73,966,811 V139M probably damaging Het
Tas2r114 T C 6: 131,689,280 M262V probably benign Het
Tmem147 A G 7: 30,729,422 probably benign Het
Tmem220 A G 11: 67,034,107 probably null Het
Uspl1 A G 5: 149,188,346 N35S possibly damaging Het
Vmn1r170 A T 7: 23,606,334 I54F possibly damaging Het
Vmn2r121 T G X: 124,127,894 I810L probably damaging Het
Wbp2nl A T 15: 82,305,744 T46S possibly damaging Het
Zfp955b T A 17: 33,300,966 M57K probably benign Het
Other mutations in Cdr2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01017:Cdr2l APN 11 115392738 missense probably damaging 0.99
IGL01326:Cdr2l APN 11 115390970 missense probably benign 0.04
IGL01411:Cdr2l APN 11 115382366 missense probably damaging 0.99
IGL01459:Cdr2l APN 11 115390552 missense probably damaging 1.00
R0135:Cdr2l UTSW 11 115393671 missense probably damaging 1.00
R1181:Cdr2l UTSW 11 115394179 missense probably damaging 1.00
R1598:Cdr2l UTSW 11 115393377 missense probably damaging 0.99
R1612:Cdr2l UTSW 11 115393406 missense probably benign 0.01
R1919:Cdr2l UTSW 11 115392777 missense probably damaging 1.00
R2090:Cdr2l UTSW 11 115391001 missense probably damaging 1.00
R2286:Cdr2l UTSW 11 115392800 frame shift probably null
R4938:Cdr2l UTSW 11 115393825 missense possibly damaging 0.86
R5114:Cdr2l UTSW 11 115393360 missense probably damaging 1.00
R5355:Cdr2l UTSW 11 115393570 missense possibly damaging 0.87
R6783:Cdr2l UTSW 11 115393669 missense possibly damaging 0.56
R7156:Cdr2l UTSW 11 115390966 missense probably benign 0.15
R8330:Cdr2l UTSW 11 115394113 missense probably benign 0.21
Posted On2015-12-18