Incidental Mutation 'IGL01326:Cdr2l'
ID74263
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: 0.183) question?
Stock #IGL01326
Quality Score
Status
Chromosome11
Chromosomal Location115381916-115396132 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 115390970 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 100 (R100S)
Ref Sequence ENSEMBL: ENSMUSP00000052096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053288]
Predicted Effect probably benign
Transcript: ENSMUST00000053288
AA Change: R100S

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000052096
Gene: ENSMUSG00000050910
AA Change: R100S

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 G A 3: 138,286,911 V263M probably damaging Het
Akap13 T A 7: 75,725,348 H1909Q probably benign Het
Atg2b C T 12: 105,622,144 A1936T probably damaging Het
Atp8b3 G T 10: 80,524,376 L954M probably damaging Het
C8a T C 4: 104,856,420 Y171C probably damaging Het
Cd6 A G 19: 10,791,102 S508P probably benign Het
Cdk4 A G 10: 127,064,623 D86G possibly damaging Het
Cndp1 T A 18: 84,622,232 T283S probably benign Het
Cr2 T C 1: 195,141,221 Y1023C probably null Het
Csmd3 A G 15: 47,849,785 F1494L probably benign Het
Eng G T 2: 32,672,382 G231W probably benign Het
Erp44 A G 4: 48,218,126 V181A probably benign Het
Fam102b A G 3: 108,979,785 V299A possibly damaging Het
Fkbp15 A G 4: 62,323,250 S553P probably damaging Het
Glg1 A G 8: 111,182,573 V495A probably damaging Het
Gm9631 A T 11: 121,945,628 D28E possibly damaging Het
Gnptab G T 10: 88,433,065 L543F probably damaging Het
Hist1h4c A T 13: 23,698,370 I27N probably damaging Het
Khdrbs2 T G 1: 32,657,477 L329R possibly damaging Het
Kidins220 C A 12: 25,038,499 H1080Q probably damaging Het
Maml1 G A 11: 50,265,888 P487S probably benign Het
Marc2 T C 1: 184,833,851 probably benign Het
Me1 C T 9: 86,598,718 probably null Het
Morc2a C T 11: 3,681,775 R569C probably benign Het
Mrc1 A G 2: 14,266,524 Q413R probably damaging Het
Mrgprx1 A T 7: 48,021,769 C77S probably benign Het
Myo1d A T 11: 80,684,321 probably benign Het
Nr4a1 T G 15: 101,274,059 L538R probably damaging Het
Olfm1 T C 2: 28,229,552 Y385H probably damaging Het
Olfr1034 A G 2: 86,047,283 E267G probably damaging Het
Olfr1238 A T 2: 89,406,331 F249L possibly damaging Het
Pkd1 T A 17: 24,576,174 Y2278* probably null Het
Plcg2 T C 8: 117,573,999 probably benign Het
Prkdc G T 16: 15,829,692 C3660F probably benign Het
Ptpn11 T C 5: 121,143,136 D493G probably damaging Het
Rad23b T A 4: 55,383,601 F278I possibly damaging Het
Saxo2 T C 7: 82,648,405 I9V probably benign Het
Scn7a T C 2: 66,752,260 I98V probably benign Het
Serac1 T A 17: 6,074,253 probably benign Het
Simc1 T C 13: 54,524,660 C274R probably benign Het
Sirt3 A G 7: 140,864,093 probably benign Het
Tctn3 A G 19: 40,597,436 L555P probably damaging Het
Ttc14 A G 3: 33,801,358 I151V probably benign Het
Ush2a T A 1: 188,263,321 Y96* probably null Het
Usp42 T C 5: 143,721,215 T270A possibly damaging Het
Vmn1r31 A G 6: 58,472,799 I27T probably benign Het
Vmn2r93 G A 17: 18,316,644 A530T possibly damaging Het
Other mutations in Cdr2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01017:Cdr2l APN 11 115392738 missense probably damaging 0.99
IGL01411:Cdr2l APN 11 115382366 missense probably damaging 0.99
IGL01459:Cdr2l APN 11 115390552 missense probably damaging 1.00
IGL02971:Cdr2l APN 11 115390900 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
R8427:Cdr2l UTSW 11 115394039 missense probably damaging 1.00
R8807:Cdr2l UTSW 11 115393915 missense probably damaging 1.00
Posted On2013-10-07