Incidental Mutation 'R1612:Cdr2l'
ID 176885
Institutional Source Beutler Lab
Gene Symbol Cdr2l
Ensembl Gene ENSMUSG00000050910
Gene Name cerebellar degeneration-related protein 2-like
Synonyms D030068L24Rik
MMRRC Submission 039649-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R1612 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 115272742-115286958 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 115284232 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 189 (E189D)
Ref Sequence ENSEMBL: ENSMUSP00000052096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053288]
AlphaFold A2A6T1
Predicted Effect probably benign
Transcript: ENSMUST00000053288
AA Change: E189D

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000052096
Gene: ENSMUSG00000050910
AA Change: E189D

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 97% (69/71)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579G24Rik A G 3: 79,538,451 (GRCm39) T66A probably benign Het
Actb A G 5: 142,891,350 (GRCm39) F31S probably damaging Het
Adamts7 T C 9: 90,070,750 (GRCm39) S624P possibly damaging Het
Adh7 T C 3: 137,934,642 (GRCm39) I355T possibly damaging Het
Arhgef40 A G 14: 52,241,538 (GRCm39) E106G probably damaging Het
Brd10 A G 19: 29,695,245 (GRCm39) V1483A possibly damaging Het
Cabp7 T C 11: 4,689,198 (GRCm39) D149G probably damaging Het
Cass4 A T 2: 172,268,998 (GRCm39) Q362L possibly damaging Het
Cd14 G A 18: 36,858,718 (GRCm39) Q246* probably null Het
Col6a6 A G 9: 105,654,748 (GRCm39) V991A probably damaging Het
Coq7 A G 7: 118,109,134 (GRCm39) W305R unknown Het
Cracr2a G T 6: 127,580,892 (GRCm39) G23* probably null Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Epcam T C 17: 87,947,366 (GRCm39) L40P possibly damaging Het
Eps8 G A 6: 137,477,616 (GRCm39) P531S probably benign Het
Faap100 C A 11: 120,267,914 (GRCm39) L286F probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fbn2 A T 18: 58,194,824 (GRCm39) C1446S probably damaging Het
Fmo3 A G 1: 162,795,454 (GRCm39) V127A probably damaging Het
Frem3 A G 8: 81,341,490 (GRCm39) D1261G probably damaging Het
Gabbr1 A G 17: 37,381,561 (GRCm39) Y775C probably damaging Het
Gbp11 G T 5: 105,474,462 (GRCm39) Q405K possibly damaging Het
Gdi2 T A 13: 3,610,051 (GRCm39) V260E probably benign Het
Glp2r C T 11: 67,633,033 (GRCm39) V98M possibly damaging Het
Gm13741 T C 2: 87,486,431 (GRCm39) Y278C probably damaging Het
Gm7732 G A 17: 21,350,177 (GRCm39) noncoding transcript Het
Gnptab T A 10: 88,264,344 (GRCm39) probably null Het
Hbs1l T G 10: 21,234,734 (GRCm39) F596V probably damaging Het
Krt78 A T 15: 101,860,279 (GRCm39) probably null Het
Krt87 A T 15: 101,386,092 (GRCm39) L223Q probably benign Het
Lcmt2 T C 2: 120,969,601 (GRCm39) Y274C probably damaging Het
Limd1 A G 9: 123,347,219 (GRCm39) Y620C probably damaging Het
Lvrn G T 18: 47,027,770 (GRCm39) A862S probably damaging Het
Map4k2 A G 19: 6,393,371 (GRCm39) E206G probably damaging Het
Med16 A G 10: 79,735,079 (GRCm39) S461P probably damaging Het
Mrfap1 C A 5: 36,953,706 (GRCm39) A78S probably damaging Het
Nav2 T A 7: 49,220,959 (GRCm39) N1715K probably damaging Het
Ndc1 A G 4: 107,252,265 (GRCm39) probably benign Het
Ngly1 G T 14: 16,290,867 (GRCm38) G450* probably null Het
Or13c25 T A 4: 52,911,501 (GRCm39) M98L probably benign Het
Or5k3 T C 16: 58,969,987 (GRCm39) M258T probably benign Het
Pde3b T A 7: 114,118,791 (GRCm39) Y643* probably null Het
Pdilt T G 7: 119,086,198 (GRCm39) N506H possibly damaging Het
Pear1 C T 3: 87,659,160 (GRCm39) probably null Het
Pfkp A T 13: 6,638,625 (GRCm39) M582K probably damaging Het
Pigl T A 11: 62,403,820 (GRCm39) F251I probably benign Het
Plk3 A G 4: 116,989,004 (GRCm39) Y252H probably damaging Het
Prdx3 A G 19: 60,862,872 (GRCm39) S12P possibly damaging Het
Prkag2 T C 5: 25,082,026 (GRCm39) I96V probably benign Het
Pwwp3a T A 10: 80,068,889 (GRCm39) probably benign Het
Rgs3 G A 4: 62,544,172 (GRCm39) V146M probably damaging Het
Serpinh1 T C 7: 98,998,138 (GRCm39) D164G probably damaging Het
Slc35d2 T C 13: 64,259,324 (GRCm39) probably benign Het
Slc6a6 A G 6: 91,718,008 (GRCm39) N316D probably damaging Het
Snx14 A T 9: 88,258,958 (GRCm39) M973K possibly damaging Het
Sptan1 C G 2: 29,893,348 (GRCm39) R1126G probably damaging Het
Stpg3 T C 2: 25,103,866 (GRCm39) T157A probably benign Het
Tmem39b A T 4: 129,580,715 (GRCm39) M259K possibly damaging Het
Tomm40l A T 1: 171,049,471 (GRCm39) probably null Het
Tsen34 G T 7: 3,698,395 (GRCm39) G180W probably damaging Het
Ube2l6 C T 2: 84,636,717 (GRCm39) R54W probably damaging Het
Vdac1 A T 11: 52,274,897 (GRCm39) T182S probably benign Het
Wdr3 T C 3: 100,058,515 (GRCm39) probably benign Het
Wsb1 T A 11: 79,139,411 (GRCm39) Q95L probably benign Het
Other mutations in Cdr2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01017:Cdr2l APN 11 115,283,564 (GRCm39) missense probably damaging 0.99
IGL01326:Cdr2l APN 11 115,281,796 (GRCm39) missense probably benign 0.04
IGL01411:Cdr2l APN 11 115,273,192 (GRCm39) missense probably damaging 0.99
IGL01459:Cdr2l APN 11 115,281,378 (GRCm39) missense probably damaging 1.00
IGL02971:Cdr2l APN 11 115,281,726 (GRCm39) missense probably damaging 1.00
R0135:Cdr2l UTSW 11 115,284,497 (GRCm39) missense probably damaging 1.00
R1181:Cdr2l UTSW 11 115,285,005 (GRCm39) missense probably damaging 1.00
R1598:Cdr2l UTSW 11 115,284,203 (GRCm39) missense probably damaging 0.99
R1919:Cdr2l UTSW 11 115,283,603 (GRCm39) missense probably damaging 1.00
R2090:Cdr2l UTSW 11 115,281,827 (GRCm39) missense probably damaging 1.00
R2286:Cdr2l UTSW 11 115,283,626 (GRCm39) frame shift probably null
R4938:Cdr2l UTSW 11 115,284,651 (GRCm39) missense possibly damaging 0.86
R5114:Cdr2l UTSW 11 115,284,186 (GRCm39) missense probably damaging 1.00
R5355:Cdr2l UTSW 11 115,284,396 (GRCm39) missense possibly damaging 0.87
R6783:Cdr2l UTSW 11 115,284,495 (GRCm39) missense possibly damaging 0.56
R7156:Cdr2l UTSW 11 115,281,792 (GRCm39) missense probably benign 0.15
R8330:Cdr2l UTSW 11 115,284,939 (GRCm39) missense probably benign 0.21
R8427:Cdr2l UTSW 11 115,284,865 (GRCm39) missense probably damaging 1.00
R8807:Cdr2l UTSW 11 115,284,741 (GRCm39) missense probably damaging 1.00
R9081:Cdr2l UTSW 11 115,284,939 (GRCm39) missense probably damaging 1.00
R9166:Cdr2l UTSW 11 115,283,537 (GRCm39) missense probably benign 0.42
Predicted Primers PCR Primer
(F):5'- AAACCTGCTTGTCCGACGCTTC -3'
(R):5'- GCATTAGAGTCATCTCCACTGCCTG -3'

Sequencing Primer
(F):5'- GTATAGGTCATCGTACTCAGACAC -3'
(R):5'- TGCAGCTCCAGCAACTCG -3'
Posted On 2014-04-24