Incidental Mutation 'R7740:Ccdc80'
ID 596520
Institutional Source Beutler Lab
Gene Symbol Ccdc80
Ensembl Gene ENSMUSG00000022665
Gene Name coiled-coil domain containing 80
Synonyms DRO1, Urb, Ssg1, 2610001E17Rik
MMRRC Submission 045796-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R7740 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 44913770-44948287 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44924888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 674 (H674R)
Ref Sequence ENSEMBL: ENSMUSP00000058752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061050] [ENSMUST00000099498]
AlphaFold Q8R2G6
Predicted Effect possibly damaging
Transcript: ENSMUST00000061050
AA Change: H674R

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000058752
Gene: ENSMUSG00000022665
AA Change: H674R

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 possibly damaging
Transcript: ENSMUST00000099498
AA Change: H674R

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097097
Gene: ENSMUSG00000022665
AA Change: H674R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (65/65)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik G A 5: 109,885,370 (GRCm39) Q163* probably null Het
Anxa6 T A 11: 54,898,725 (GRCm39) T150S probably damaging Het
Bpifb6 T A 2: 153,744,929 (GRCm39) L45Q probably damaging Het
Brwd1 T C 16: 95,828,568 (GRCm39) D1121G probably damaging Het
C1ql3 A G 2: 13,015,483 (GRCm39) I59T possibly damaging Het
Cdhr1 T G 14: 36,811,337 (GRCm39) E258A probably damaging Het
Ces2g T A 8: 105,692,962 (GRCm39) F333L probably damaging Het
Chn2 C T 6: 54,277,156 (GRCm39) T445I probably benign Het
Cpe T C 8: 65,050,562 (GRCm39) D382G possibly damaging Het
Crb1 T A 1: 139,165,428 (GRCm39) I960L probably benign Het
Cyp4a14 A T 4: 115,350,806 (GRCm39) V156D probably damaging Het
Ddx23 A T 15: 98,556,315 (GRCm39) M1K probably null Het
Dnajc7 T C 11: 100,482,387 (GRCm39) I202V probably benign Het
Dsn1 T A 2: 156,839,636 (GRCm39) D255V possibly damaging Het
Dvl3 A T 16: 20,346,000 (GRCm39) probably null Het
Epm2a A G 10: 11,266,684 (GRCm39) D143G possibly damaging Het
Erc1 T A 6: 119,738,149 (GRCm39) M565L probably benign Het
Fancm T C 12: 65,173,321 (GRCm39) C1878R possibly damaging Het
Gapvd1 T C 2: 34,590,834 (GRCm39) E946G probably damaging Het
Gm9195 C T 14: 72,678,113 (GRCm39) R2352K possibly damaging Het
Greb1 C A 12: 16,790,122 (GRCm39) probably benign Het
Haus5 G A 7: 30,362,678 (GRCm39) A44V possibly damaging Het
Herc4 A G 10: 63,105,457 (GRCm39) Y146C probably benign Het
Herc6 T G 6: 57,636,802 (GRCm39) probably null Het
Hivep2 G T 10: 14,003,414 (GRCm39) G4V probably damaging Het
Hsdl2 G T 4: 59,612,724 (GRCm39) G425V probably damaging Het
Igkv1-110 C T 6: 68,247,974 (GRCm39) L28F probably benign Het
Il21r T A 7: 125,231,727 (GRCm39) L385Q possibly damaging Het
Krtap5-1 ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG 7: 141,850,333 (GRCm39) probably benign Het
Krtap5-2 C T 7: 141,728,699 (GRCm39) C149Y unknown Het
Lingo2 T A 4: 35,709,248 (GRCm39) N244I probably damaging Het
Lrrk2 C T 15: 91,651,527 (GRCm39) R1728C probably damaging Het
Macf1 A G 4: 123,578,096 (GRCm39) probably benign Het
Malrd1 G A 2: 15,619,026 (GRCm39) V297I not run Het
Mars1 T A 10: 127,136,444 (GRCm39) E460D probably benign Het
Nr1i3 A G 1: 171,044,396 (GRCm39) I174V probably benign Het
Odf2 C T 2: 29,820,636 (GRCm39) T814M probably damaging Het
Or10q1 T C 19: 13,727,328 (GRCm39) V286A probably benign Het
Or4k1 T C 14: 50,377,803 (GRCm39) M98V probably benign Het
Or4k52 A T 2: 111,610,793 (GRCm39) I43F possibly damaging Het
Pcdhga8 T C 18: 37,860,470 (GRCm39) S509P probably benign Het
Pdzd2 A G 15: 12,374,102 (GRCm39) L2011S probably benign Het
Pole T A 5: 110,478,907 (GRCm39) S1930T probably benign Het
Poteg T A 8: 27,952,052 (GRCm39) probably null Het
Ptprk T A 10: 28,372,920 (GRCm39) C724S probably damaging Het
Rabgap1l T C 1: 160,509,673 (GRCm39) E468G probably benign Het
Rbm12b1 G T 4: 12,145,954 (GRCm39) R642L probably benign Het
Relch T C 1: 105,658,986 (GRCm39) V914A probably damaging Het
S1pr4 A T 10: 81,334,855 (GRCm39) Y206* probably null Het
Sim2 A G 16: 93,915,819 (GRCm39) I261V probably benign Het
Slc22a12 C A 19: 6,587,199 (GRCm39) A448S probably benign Het
Slc4a2 A G 5: 24,636,666 (GRCm39) probably null Het
Slc6a7 T C 18: 61,133,495 (GRCm39) E567G possibly damaging Het
St6gal1 T C 16: 23,139,785 (GRCm39) probably benign Het
Syne3 T C 12: 104,920,546 (GRCm39) K550R probably benign Het
Tekt1 T A 11: 72,250,544 (GRCm39) T51S probably benign Het
Tm9sf4 T A 2: 153,050,663 (GRCm39) V640E probably damaging Het
Tnfsf8 G T 4: 63,752,683 (GRCm39) H127Q possibly damaging Het
Tomm20 A G 8: 127,666,633 (GRCm39) L80S probably damaging Het
Top2a T C 11: 98,884,640 (GRCm39) D1526G probably benign Het
Trmt1l T C 1: 151,316,639 (GRCm39) V200A possibly damaging Het
Trpa1 A G 1: 14,982,625 (GRCm39) V77A possibly damaging Het
Vmn2r12 A T 5: 109,239,615 (GRCm39) V316D probably damaging Het
Vmn2r14 A T 5: 109,368,324 (GRCm39) L223M probably benign Het
Zfp2 T C 11: 50,791,605 (GRCm39) H146R probably damaging Het
Zfp52 T C 17: 21,781,252 (GRCm39) S367P probably damaging 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
R2186:Ccdc80 UTSW 16 44,938,468 (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
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'- GGCCTCATCATGACTTGAGC -3'
(R):5'- AGCCAGAATGTTCCTGGTATGG -3'

Sequencing Primer
(F):5'- GCCTCATCATGACTTGAGCACTATG -3'
(R):5'- TAGATAGATAGAATCTCTGTCCCCAC -3'
Posted On 2019-11-26