Incidental Mutation 'R1580:Ccdc82'
ID 171361
Institutional Source Beutler Lab
Gene Symbol Ccdc82
Ensembl Gene ENSMUSG00000079084
Gene Name coiled-coil domain containing 82
Synonyms 2310043N13Rik
MMRRC Submission 039617-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R1580 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 13246573-13292867 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 13252385 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 226 (R226C)
Ref Sequence ENSEMBL: ENSMUSP00000150947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110583] [ENSMUST00000216578] [ENSMUST00000217444]
AlphaFold Q6PG04
Predicted Effect probably damaging
Transcript: ENSMUST00000110583
AA Change: R226C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106212
Gene: ENSMUSG00000079084
AA Change: R226C

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 damaging
Transcript: ENSMUST00000217444
AA Change: R226C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.2202 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.4%
  • 20x: 89.8%
Validation Efficiency 96% (43/45)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C T 1: 71,305,124 (GRCm39) V2044I possibly damaging Het
Adgrv1 A G 13: 81,614,279 (GRCm39) probably null Het
Arhgef38 T C 3: 132,839,465 (GRCm39) Q526R probably benign Het
Atp2c2 A G 8: 120,479,726 (GRCm39) N752D probably benign Het
Atp6v0a1 T C 11: 100,920,030 (GRCm39) I221T probably damaging Het
Atp8b5 T C 4: 43,355,673 (GRCm39) V551A possibly damaging Het
B3galnt1 A G 3: 69,483,040 (GRCm39) S74P possibly damaging Het
Bcl2l13 A G 6: 120,842,675 (GRCm39) I123V probably benign Het
Brms1l A T 12: 55,915,007 (GRCm39) K305N probably damaging Het
Chst9 T G 18: 15,586,122 (GRCm39) K147T probably benign Het
Clec16a A G 16: 10,413,762 (GRCm39) R390G probably damaging Het
Clec5a G T 6: 40,562,153 (GRCm39) H4N probably benign Het
Csmd1 T A 8: 15,975,299 (GRCm39) Q2970L probably damaging Het
Cyp2a4 T C 7: 26,007,076 (GRCm39) I61T possibly damaging Het
Cyp3a16 T A 5: 145,378,884 (GRCm39) K379I possibly damaging Het
Cyp3a16 T C 5: 145,378,885 (GRCm39) K379E probably damaging Het
Dok2 A G 14: 71,014,397 (GRCm39) D195G probably benign Het
Emilin1 A G 5: 31,074,764 (GRCm39) E335G probably damaging Het
Gm7361 G T 5: 26,462,768 (GRCm39) L3F probably damaging Het
Haus1 T C 18: 77,854,620 (GRCm39) D50G probably damaging Het
Igf1r T C 7: 67,857,617 (GRCm39) V1099A probably benign Het
Kif15 T C 9: 122,789,021 (GRCm39) V71A probably benign Het
Klk10 C T 7: 43,432,286 (GRCm39) A73V probably damaging Het
Lins1 C A 7: 66,364,239 (GRCm39) D711E probably benign Het
Mbtps1 C T 8: 120,265,639 (GRCm39) V303I possibly damaging Het
Mest G A 6: 30,745,822 (GRCm39) probably benign Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Or14c43 A G 7: 86,114,658 (GRCm39) E13G probably benign Het
Or6c210 G T 10: 129,496,184 (GRCm39) V170F probably benign Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Rtf2 A G 2: 172,287,285 (GRCm39) D68G probably damaging Het
Sbspon C A 1: 15,962,692 (GRCm39) C62F probably damaging Het
Spata31f3 T C 4: 42,874,020 (GRCm39) probably null Het
Spg7 T A 8: 123,816,977 (GRCm39) probably benign Het
Trabd2b T C 4: 114,437,531 (GRCm39) V236A possibly damaging Het
Vmn2r10 A T 5: 109,154,117 (GRCm39) N62K possibly damaging Het
Vmn2r45 T G 7: 8,474,746 (GRCm39) S761R possibly damaging Het
Zfp580 C T 7: 5,056,284 (GRCm39) R215C probably damaging Het
Zfpm2 A G 15: 40,966,605 (GRCm39) D898G possibly damaging 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
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
R4287:Ccdc82 UTSW 9 13,253,043 (GRCm39) missense probably benign 0.13
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'- CACACTGGGCAAATCCTAGAGGAAG -3'
(R):5'- CATCGTGCCTTTAAAACAGCCAGC -3'

Sequencing Primer
(F):5'- AAAAAGGCTGTCCTCTGTGATG -3'
(R):5'- GCCAGCATGGCTTTAAAATTAAATC -3'
Posted On 2014-04-13