Incidental Mutation 'R4287:Ccdc82'
ID 322068
Institutional Source Beutler Lab
Gene Symbol Ccdc82
Ensembl Gene ENSMUSG00000079084
Gene Name coiled-coil domain containing 82
Synonyms 2310043N13Rik
MMRRC Submission 041652-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R4287 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 13246573-13292867 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 13253043 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 303 (Q303K)
Ref Sequence ENSEMBL: ENSMUSP00000150947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110583] [ENSMUST00000216578] [ENSMUST00000217444]
AlphaFold Q6PG04
Predicted Effect probably benign
Transcript: ENSMUST00000110583
AA Change: Q303K

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000106212
Gene: ENSMUSG00000079084
AA Change: Q303K

DomainStartEndE-ValueType
low complexity region 38 70 N/A INTRINSIC
Pfam:DUF4196 98 211 1.8e-50 PFAM
low complexity region 218 231 N/A INTRINSIC
Pfam:DUF4211 273 432 1e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169961
SMART Domains Protein: ENSMUSP00000126058
Gene: ENSMUSG00000079084

DomainStartEndE-ValueType
low complexity region 38 70 N/A INTRINSIC
Pfam:DUF4196 98 211 2.2e-55 PFAM
low complexity region 218 231 N/A INTRINSIC
low complexity region 250 273 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215735
Predicted Effect probably benign
Transcript: ENSMUST00000216578
Predicted Effect probably benign
Transcript: ENSMUST00000217444
AA Change: Q303K

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
Meta Mutation Damage Score 0.1032 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 98% (40/41)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc5 A G 5: 122,938,664 (GRCm39) V362A probably benign Het
Ash1l T A 3: 88,973,722 (GRCm39) C2594S probably damaging Het
Cog1 A G 11: 113,544,853 (GRCm39) Y345C probably damaging Het
Fpgt T C 3: 154,796,997 (GRCm39) probably benign Het
Glrb A T 3: 80,752,539 (GRCm39) V408D possibly damaging Het
Gm7135 A G 1: 97,328,123 (GRCm39) noncoding transcript Het
Il1rn T C 2: 24,239,557 (GRCm39) L151P probably damaging Het
Itgav G T 2: 83,555,184 (GRCm39) E36* probably null Het
Kidins220 G A 12: 25,106,845 (GRCm39) E1433K possibly damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Klra3 A G 6: 130,311,265 (GRCm39) C39R probably benign Het
Lce1i A G 3: 92,684,742 (GRCm39) S145P unknown Het
Memo1 T C 17: 74,562,293 (GRCm39) probably null Het
Mpp3 G A 11: 101,914,289 (GRCm39) A102V probably damaging Het
Mug2 T A 6: 122,040,632 (GRCm39) D727E probably benign Het
Ndufb8 T C 19: 44,541,130 (GRCm39) I107V probably benign Het
Or5h18 A T 16: 58,847,976 (GRCm39) M98K probably benign Het
Pnn C T 12: 59,118,956 (GRCm39) T513I possibly damaging Het
Ric8a A G 7: 140,441,335 (GRCm39) Y210C probably damaging Het
Ripor2 G A 13: 24,908,992 (GRCm39) V1037M probably damaging Het
Rreb1 A T 13: 38,115,907 (GRCm39) T1089S probably benign Het
Rrs1 C T 1: 9,616,440 (GRCm39) S231L probably damaging Het
Rrs1 C T 1: 9,616,448 (GRCm39) R234C possibly damaging Het
Sec23ip A G 7: 128,379,057 (GRCm39) D838G probably benign Het
Setbp1 T C 18: 78,902,276 (GRCm39) I464V probably benign Het
Slc25a51 C T 4: 45,399,768 (GRCm39) V141M probably benign Het
Slc41a3 A T 6: 90,617,904 (GRCm39) H310L probably benign Het
Smurf1 A G 5: 144,828,268 (GRCm39) S363P probably benign Het
Tln1 C T 4: 43,543,509 (GRCm39) R1269Q probably benign Het
Tmed3 A G 9: 89,586,951 (GRCm39) S10P probably benign Het
Tomm70a T G 16: 56,960,985 (GRCm39) Y313D probably damaging Het
Umodl1 A G 17: 31,207,039 (GRCm39) E810G probably benign Het
Unc5c T C 3: 141,420,435 (GRCm39) I52T probably damaging Het
Unc5d T A 8: 29,209,824 (GRCm39) Y432F probably benign Het
Vmn2r97 A T 17: 19,168,337 (GRCm39) probably benign Het
Zfp629 T C 7: 127,211,110 (GRCm39) Y233C probably damaging Het
Zfp986 T C 4: 145,619,088 (GRCm39) probably null Het
Other mutations in Ccdc82
AlleleSourceChrCoordTypePredicted EffectPPH Score
Nervosa UTSW 9 13,289,706 (GRCm39) nonsense probably null
R1276:Ccdc82 UTSW 9 13,281,903 (GRCm39) missense probably benign 0.03
R1580:Ccdc82 UTSW 9 13,252,385 (GRCm39) missense probably damaging 1.00
R1662:Ccdc82 UTSW 9 13,262,397 (GRCm39) missense probably damaging 1.00
R3619:Ccdc82 UTSW 9 13,251,931 (GRCm39) missense probably benign 0.05
R3858:Ccdc82 UTSW 9 13,251,704 (GRCm39) start gained probably benign
R3963:Ccdc82 UTSW 9 13,252,011 (GRCm39) missense possibly damaging 0.78
R4674:Ccdc82 UTSW 9 13,252,260 (GRCm39) missense probably benign 0.45
R5591:Ccdc82 UTSW 9 13,272,822 (GRCm39) critical splice donor site probably null
R6122:Ccdc82 UTSW 9 13,266,880 (GRCm39) missense probably benign 0.01
R6175:Ccdc82 UTSW 9 13,272,798 (GRCm39) missense probably damaging 1.00
R6434:Ccdc82 UTSW 9 13,251,659 (GRCm39) intron probably benign
R6457:Ccdc82 UTSW 9 13,272,745 (GRCm39) missense possibly damaging 0.73
R6825:Ccdc82 UTSW 9 13,251,601 (GRCm39) intron probably benign
R7191:Ccdc82 UTSW 9 13,252,097 (GRCm39) nonsense probably null
R8716:Ccdc82 UTSW 9 13,252,922 (GRCm39) nonsense probably null
R8850:Ccdc82 UTSW 9 13,289,706 (GRCm39) nonsense probably null
R9020:Ccdc82 UTSW 9 13,281,915 (GRCm39) missense probably damaging 1.00
R9345:Ccdc82 UTSW 9 13,281,891 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- AAGGACTCTTGTTCAGGCAC -3'
(R):5'- ATGTAAAAGAATGCCAGCCTCC -3'

Sequencing Primer
(F):5'- GCACTGGTGAGGAGGATG -3'
(R):5'- CCTGATAAAAATGCTTGTTTCCTGGG -3'
Posted On 2015-06-20