Incidental Mutation 'R2186:Ccdc80'
ID 237792
Institutional Source Beutler Lab
Gene Symbol Ccdc80
Ensembl Gene ENSMUSG00000022665
Gene Name coiled-coil domain containing 80
Synonyms DRO1, Urb, Ssg1, 2610001E17Rik
MMRRC Submission 040188-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R2186 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 44913770-44948287 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44938468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 725 (Y725C)
Ref Sequence ENSEMBL: ENSMUSP00000097097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061050] [ENSMUST00000099498]
AlphaFold Q8R2G6
Predicted Effect probably damaging
Transcript: ENSMUST00000061050
AA Change: Y725C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058752
Gene: ENSMUSG00000022665
AA Change: Y725C

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:DUF4174 141 270 2.2e-31 PFAM
low complexity region 294 308 N/A INTRINSIC
low complexity region 335 380 N/A INTRINSIC
low complexity region 482 497 N/A INTRINSIC
coiled coil region 554 587 N/A INTRINSIC
Pfam:DUF4174 614 748 3.1e-36 PFAM
Pfam:DUF4174 770 901 2.1e-36 PFAM
low complexity region 917 940 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000099498
AA Change: Y725C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097097
Gene: ENSMUSG00000022665
AA Change: Y725C

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:DUF4174 140 271 8.9e-34 PFAM
low complexity region 294 308 N/A INTRINSIC
low complexity region 335 380 N/A INTRINSIC
low complexity region 482 497 N/A INTRINSIC
coiled coil region 554 587 N/A INTRINSIC
Pfam:DUF4174 613 749 1.4e-21 PFAM
Pfam:DUF4174 769 902 3.5e-39 PFAM
low complexity region 917 940 N/A INTRINSIC
Meta Mutation Damage Score 0.4509 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (51/51)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit increased adiposity, hyperglycemia, glucose intolerance, impaired insulin secretion, and altered energy intake and expenditure when fed a high-fat diet. Mice homozygous for a different null allele develop thyroid adenomas and ovarian carcinomas. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,099,340 (GRCm39) N29S probably damaging Het
Ap1b1 T C 11: 4,965,737 (GRCm39) V92A possibly damaging Het
Asgr1 G A 11: 69,947,075 (GRCm39) R66Q probably benign Het
Atp8b4 T A 2: 126,200,780 (GRCm39) Q796L probably damaging Het
Camk4 A C 18: 33,315,394 (GRCm39) D307A probably damaging Het
Catsperb T A 12: 101,447,041 (GRCm39) I223K probably benign Het
Cep164 T A 9: 45,679,876 (GRCm39) Q1119L probably damaging Het
Cep85l G A 10: 53,224,714 (GRCm39) P292S probably damaging Het
Cfap53 A G 18: 74,462,576 (GRCm39) probably null Het
Cilk1 C T 9: 78,038,769 (GRCm39) T6M probably benign Het
Cts8 C A 13: 61,399,545 (GRCm39) C138F probably damaging Het
Dis3l C A 9: 64,246,894 (GRCm39) E54* probably null Het
Dnaja1 T A 4: 40,732,853 (GRCm39) D367E probably benign Het
Duoxa2 T C 2: 122,129,655 (GRCm39) I45T probably damaging Het
EU599041 C T 7: 42,875,333 (GRCm39) noncoding transcript Het
Exoc5 T C 14: 49,252,936 (GRCm39) M561V probably benign Het
Fam184a T C 10: 53,514,290 (GRCm39) I296V probably damaging Het
Fbxl18 C T 5: 142,864,516 (GRCm39) V686M probably damaging Het
Fryl A G 5: 73,222,318 (GRCm39) S2088P probably damaging Het
Fus G A 7: 127,584,706 (GRCm39) probably benign Het
Gpr183 T A 14: 122,191,727 (GRCm39) I265L probably benign Het
Herc1 T G 9: 66,347,183 (GRCm39) L2013V probably benign Het
Iqca1 T C 1: 90,009,066 (GRCm39) K430R probably benign Het
Iqca1l C T 5: 24,759,524 (GRCm39) G82E probably damaging Het
Itpripl2 A G 7: 118,090,500 (GRCm39) C20R probably damaging Het
Kmt2c C A 5: 25,492,110 (GRCm39) C852F probably damaging Het
Lamb1 A T 12: 31,368,466 (GRCm39) K1199* probably null Het
Lrba A G 3: 86,211,643 (GRCm39) Y421C probably damaging Het
Lrig2 A G 3: 104,375,914 (GRCm39) L96P probably benign Het
Mcc A G 18: 44,945,145 (GRCm39) F29S possibly damaging Het
Mlh1 T C 9: 111,087,634 (GRCm39) probably benign Het
Pals1 T C 12: 78,866,145 (GRCm39) probably benign Het
Rbm33 A G 5: 28,599,228 (GRCm39) T867A unknown Het
Sdk1 T A 5: 142,032,047 (GRCm39) S1041T probably benign Het
Serpinb2 A G 1: 107,451,694 (GRCm39) probably null Het
Serpinb9d A G 13: 33,387,030 (GRCm39) N366S possibly damaging Het
Sf3b1 A G 1: 55,046,792 (GRCm39) S251P probably benign Het
Slc45a1 T C 4: 150,722,708 (GRCm39) Y392C probably benign Het
Tlr4 T A 4: 66,758,220 (GRCm39) C338S possibly damaging Het
Trio A G 15: 27,824,061 (GRCm39) probably null Het
Vnn1 A T 10: 23,773,299 (GRCm39) I109L probably benign Het
Wnk1 A G 6: 119,925,528 (GRCm39) V1312A probably benign Het
Zbed6 A G 1: 133,585,817 (GRCm39) S507P probably damaging Het
Zfp28 A G 7: 6,397,497 (GRCm39) H644R probably damaging Het
Zfp286 A G 11: 62,671,287 (GRCm39) V262A probably damaging Het
Zfp292 A T 4: 34,807,962 (GRCm39) M1694K probably benign Het
Other mutations in Ccdc80
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00977:Ccdc80 APN 16 44,916,627 (GRCm39) missense probably benign 0.07
IGL01781:Ccdc80 APN 16 44,946,493 (GRCm39) missense probably damaging 1.00
IGL01945:Ccdc80 APN 16 44,938,608 (GRCm39) missense probably damaging 0.99
IGL02163:Ccdc80 APN 16 44,916,477 (GRCm39) missense probably benign
IGL02223:Ccdc80 APN 16 44,915,966 (GRCm39) missense probably damaging 1.00
IGL02573:Ccdc80 APN 16 44,915,952 (GRCm39) missense probably damaging 1.00
IGL02675:Ccdc80 APN 16 44,936,695 (GRCm39) missense probably damaging 1.00
IGL02689:Ccdc80 APN 16 44,916,772 (GRCm39) nonsense probably null
R0219:Ccdc80 UTSW 16 44,916,846 (GRCm39) missense probably damaging 1.00
R0383:Ccdc80 UTSW 16 44,915,732 (GRCm39) missense probably damaging 1.00
R1537:Ccdc80 UTSW 16 44,916,299 (GRCm39) missense probably benign 0.21
R1726:Ccdc80 UTSW 16 44,916,368 (GRCm39) missense probably benign 0.04
R1885:Ccdc80 UTSW 16 44,917,083 (GRCm39) missense probably benign 0.09
R2021:Ccdc80 UTSW 16 44,943,275 (GRCm39) missense probably damaging 1.00
R2140:Ccdc80 UTSW 16 44,947,809 (GRCm39) missense probably damaging 1.00
R3896:Ccdc80 UTSW 16 44,916,984 (GRCm39) missense probably benign 0.11
R3941:Ccdc80 UTSW 16 44,916,455 (GRCm39) missense probably benign
R3971:Ccdc80 UTSW 16 44,916,183 (GRCm39) missense probably benign 0.22
R4082:Ccdc80 UTSW 16 44,943,290 (GRCm39) missense probably damaging 1.00
R4322:Ccdc80 UTSW 16 44,915,951 (GRCm39) missense probably damaging 1.00
R4578:Ccdc80 UTSW 16 44,915,849 (GRCm39) missense probably damaging 1.00
R4604:Ccdc80 UTSW 16 44,915,928 (GRCm39) missense probably damaging 1.00
R4868:Ccdc80 UTSW 16 44,924,776 (GRCm39) missense probably damaging 1.00
R4896:Ccdc80 UTSW 16 44,916,261 (GRCm39) missense probably benign
R4921:Ccdc80 UTSW 16 44,938,530 (GRCm39) missense probably damaging 1.00
R4979:Ccdc80 UTSW 16 44,936,650 (GRCm39) missense possibly damaging 0.90
R5452:Ccdc80 UTSW 16 44,938,528 (GRCm39) missense probably damaging 1.00
R5454:Ccdc80 UTSW 16 44,947,588 (GRCm39) nonsense probably null
R5594:Ccdc80 UTSW 16 44,936,626 (GRCm39) missense probably benign 0.00
R5661:Ccdc80 UTSW 16 44,947,808 (GRCm39) missense probably damaging 1.00
R5701:Ccdc80 UTSW 16 44,936,741 (GRCm39) missense possibly damaging 0.51
R6106:Ccdc80 UTSW 16 44,917,073 (GRCm39) missense probably benign 0.00
R6393:Ccdc80 UTSW 16 44,916,828 (GRCm39) missense possibly damaging 0.88
R6633:Ccdc80 UTSW 16 44,915,271 (GRCm39) missense possibly damaging 0.95
R6943:Ccdc80 UTSW 16 44,915,445 (GRCm39) missense probably benign 0.00
R7021:Ccdc80 UTSW 16 44,924,804 (GRCm39) missense probably damaging 1.00
R7030:Ccdc80 UTSW 16 44,943,252 (GRCm39) missense possibly damaging 0.60
R7208:Ccdc80 UTSW 16 44,917,073 (GRCm39) missense probably benign 0.12
R7486:Ccdc80 UTSW 16 44,946,542 (GRCm39) missense probably damaging 1.00
R7490:Ccdc80 UTSW 16 44,916,763 (GRCm39) missense probably damaging 1.00
R7539:Ccdc80 UTSW 16 44,915,445 (GRCm39) missense probably benign 0.01
R7562:Ccdc80 UTSW 16 44,943,266 (GRCm39) missense probably damaging 1.00
R7723:Ccdc80 UTSW 16 44,946,798 (GRCm39) splice site probably null
R7739:Ccdc80 UTSW 16 44,916,186 (GRCm39) missense probably benign 0.06
R7740:Ccdc80 UTSW 16 44,924,888 (GRCm39) missense possibly damaging 0.67
R8034:Ccdc80 UTSW 16 44,943,238 (GRCm39) missense probably damaging 0.96
R8150:Ccdc80 UTSW 16 44,947,792 (GRCm39) missense probably damaging 1.00
R8420:Ccdc80 UTSW 16 44,915,612 (GRCm39) missense possibly damaging 0.70
R8843:Ccdc80 UTSW 16 44,947,470 (GRCm39) intron probably benign
R8983:Ccdc80 UTSW 16 44,924,780 (GRCm39) missense possibly damaging 0.92
R9263:Ccdc80 UTSW 16 44,915,949 (GRCm39) missense probably damaging 0.99
R9570:Ccdc80 UTSW 16 44,915,449 (GRCm39) missense probably benign 0.13
R9584:Ccdc80 UTSW 16 44,915,675 (GRCm39) missense probably damaging 0.99
X0012:Ccdc80 UTSW 16 44,916,788 (GRCm39) missense probably benign 0.26
Z1176:Ccdc80 UTSW 16 44,936,707 (GRCm39) missense probably damaging 1.00
Z1176:Ccdc80 UTSW 16 44,916,570 (GRCm39) missense probably benign 0.43
Z1176:Ccdc80 UTSW 16 44,916,149 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ATTAGTGCCAGCAGTATGGG -3'
(R):5'- GCTAGCCTCATTTGGGAACAC -3'

Sequencing Primer
(F):5'- TAAATGTACCAATTGCTTCCTGGGG -3'
(R):5'- CCTCATTTGGGAACACAAAGATG -3'
Posted On 2014-10-02