Incidental Mutation 'R5212:Ccp110'
ID 403179
Institutional Source Beutler Lab
Gene Symbol Ccp110
Ensembl Gene ENSMUSG00000033904
Gene Name centriolar coiled coil protein 110
Synonyms 6330503K22Rik, CP110
MMRRC Submission 042786-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.889) question?
Stock # R5212 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 118311775-118336247 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 118328919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 845 (A845V)
Ref Sequence ENSEMBL: ENSMUSP00000102167 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038650] [ENSMUST00000106557]
AlphaFold Q7TSH4
Predicted Effect probably damaging
Transcript: ENSMUST00000038650
AA Change: A845V

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000038881
Gene: ENSMUSG00000033904
AA Change: A845V

DomainStartEndE-ValueType
Pfam:CALM_bind 29 135 7.4e-21 PFAM
low complexity region 241 253 N/A INTRINSIC
low complexity region 325 337 N/A INTRINSIC
coiled coil region 642 699 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106557
AA Change: A845V

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102167
Gene: ENSMUSG00000033904
AA Change: A845V

DomainStartEndE-ValueType
low complexity region 50 62 N/A INTRINSIC
low complexity region 241 253 N/A INTRINSIC
low complexity region 325 337 N/A INTRINSIC
coiled coil region 642 699 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000123178
AA Change: A681V
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140831
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149056
Predicted Effect unknown
Transcript: ENSMUST00000208766
AA Change: A45V
Meta Mutation Damage Score 0.1805 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (58/60)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit pleiotropic phenotypes due to impaired sonic hedgehog (Shh) signaling and failure of primary cilia formation in multiple tissues. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,771,611 (GRCm39) S267T possibly damaging Het
Abca9 T C 11: 109,998,052 (GRCm39) D1514G probably benign Het
Adamtsl4 T A 3: 95,584,980 (GRCm39) D896V probably damaging Het
Amer2 A G 14: 60,617,269 (GRCm39) Y362C probably damaging Het
Arglu1 T A 8: 8,733,843 (GRCm39) R158W probably damaging Het
Arhgef7 A G 8: 11,778,388 (GRCm39) E46G probably benign Het
Atg2b A G 12: 105,613,055 (GRCm39) V1172A probably benign Het
Bhlhe23 T A 2: 180,417,886 (GRCm39) K217N probably damaging Het
Birc6 A C 17: 74,977,369 (GRCm39) N4388T probably damaging Het
Cd63 A G 10: 128,747,722 (GRCm39) Y105C probably damaging Het
Cdk11b T C 4: 155,723,072 (GRCm39) probably null Het
Clip1 T A 5: 123,768,744 (GRCm39) R618S probably benign Het
Crybg1 A T 10: 43,843,739 (GRCm39) F1731L possibly damaging Het
Dock1 A C 7: 134,390,923 (GRCm39) K728Q possibly damaging Het
Emc2 A G 15: 43,374,240 (GRCm39) E180G probably damaging Het
F13b A T 1: 139,440,725 (GRCm39) I394F probably benign Het
Fnta A G 8: 26,499,735 (GRCm39) I155T probably benign Het
Fshr T A 17: 89,293,685 (GRCm39) E331V probably benign Het
Fshr T A 17: 89,293,684 (GRCm39) E331D probably benign Het
Gas2l1 A T 11: 5,011,108 (GRCm39) C574S probably benign Het
Ggnbp2 T A 11: 84,744,847 (GRCm39) probably benign Het
Gm3371 A C 14: 44,641,111 (GRCm39) probably benign Het
Gm7489 T A 15: 53,749,016 (GRCm39) probably benign Het
Hand1 A C 11: 57,722,273 (GRCm39) F114V probably damaging Het
Itga4 A C 2: 79,110,939 (GRCm39) H259P probably damaging Het
Jakmip1 A T 5: 37,262,245 (GRCm39) H183L probably benign Het
Kifbp A T 10: 62,398,908 (GRCm39) probably benign Het
Krt8 G T 15: 101,906,402 (GRCm39) A369D possibly damaging Het
Krt82 T C 15: 101,453,484 (GRCm39) S301G probably damaging Het
Lig3 A G 11: 82,678,504 (GRCm39) T248A probably benign Het
Madcam1 C G 10: 79,504,179 (GRCm39) T255S probably benign Het
Med20 T C 17: 47,929,775 (GRCm39) Y71H probably benign Het
Mtss2 A G 8: 111,455,850 (GRCm39) I107V probably damaging Het
Nans T C 4: 46,502,547 (GRCm39) F328S possibly damaging Het
Ncbp3 A G 11: 72,944,373 (GRCm39) probably benign Het
Nek8 T C 11: 78,063,342 (GRCm39) M1V probably null Het
Nufip1 A T 14: 76,370,538 (GRCm39) N413I possibly damaging Het
Pbx3 T C 2: 34,178,793 (GRCm39) probably benign Het
Plppr3 C T 10: 79,698,279 (GRCm39) G419R probably benign Het
Rfx1 G T 8: 84,793,221 (GRCm39) probably benign Het
Rnpepl1 C T 1: 92,839,045 (GRCm39) A68V probably benign Het
Rsbn1l A T 5: 21,101,212 (GRCm39) M776K probably benign Het
Setd7 A T 3: 51,450,238 (GRCm39) Y63N probably damaging Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Snap47 T C 11: 59,319,178 (GRCm39) E320G probably damaging Het
Spaca6 C A 17: 18,058,656 (GRCm39) P68Q probably benign Het
Tdrd3 G C 14: 87,743,651 (GRCm39) R527P probably damaging Het
Tmprss2 G T 16: 97,377,492 (GRCm39) Q202K probably benign Het
Tmprss6 A G 15: 78,330,460 (GRCm39) V69A probably damaging Het
Trav6-1 A T 14: 52,876,161 (GRCm39) Q27L probably benign Het
Ttn C T 2: 76,731,957 (GRCm39) probably benign Het
Ttn T C 2: 76,619,945 (GRCm39) I15908V probably benign Het
Ttn T A 2: 76,628,019 (GRCm39) D12931V probably damaging Het
Ush2a T A 1: 188,176,902 (GRCm39) probably null Het
Wls A G 3: 159,578,645 (GRCm39) N69S probably benign Het
Other mutations in Ccp110
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Ccp110 APN 7 118,321,647 (GRCm39) missense possibly damaging 0.79
IGL00481:Ccp110 APN 7 118,329,220 (GRCm39) missense possibly damaging 0.70
IGL00725:Ccp110 APN 7 118,329,946 (GRCm39) missense probably damaging 0.99
IGL00899:Ccp110 APN 7 118,321,907 (GRCm39) missense probably benign
IGL01837:Ccp110 APN 7 118,324,684 (GRCm39) critical splice donor site probably null
PIT4469001:Ccp110 UTSW 7 118,321,600 (GRCm39) missense probably benign 0.06
R1217:Ccp110 UTSW 7 118,329,167 (GRCm39) splice site probably benign
R1640:Ccp110 UTSW 7 118,314,751 (GRCm39) splice site probably null
R1700:Ccp110 UTSW 7 118,334,536 (GRCm39) missense probably damaging 0.99
R1768:Ccp110 UTSW 7 118,325,247 (GRCm39) splice site probably null
R4737:Ccp110 UTSW 7 118,323,771 (GRCm39) missense possibly damaging 0.96
R4859:Ccp110 UTSW 7 118,324,653 (GRCm39) missense possibly damaging 0.93
R4933:Ccp110 UTSW 7 118,324,542 (GRCm39) missense probably damaging 0.96
R4970:Ccp110 UTSW 7 118,321,614 (GRCm39) missense possibly damaging 0.85
R4999:Ccp110 UTSW 7 118,329,235 (GRCm39) nonsense probably null
R5600:Ccp110 UTSW 7 118,328,948 (GRCm39) critical splice donor site probably null
R6953:Ccp110 UTSW 7 118,321,644 (GRCm39) missense possibly damaging 0.85
R6998:Ccp110 UTSW 7 118,332,120 (GRCm39) missense possibly damaging 0.91
R7076:Ccp110 UTSW 7 118,331,628 (GRCm39) missense probably damaging 1.00
R7092:Ccp110 UTSW 7 118,334,494 (GRCm39) missense probably benign 0.26
R7336:Ccp110 UTSW 7 118,321,433 (GRCm39) missense probably damaging 0.99
R7343:Ccp110 UTSW 7 118,323,798 (GRCm39) missense probably benign 0.03
R7866:Ccp110 UTSW 7 118,322,241 (GRCm39) missense probably benign 0.07
R8306:Ccp110 UTSW 7 118,321,903 (GRCm39) missense probably benign 0.12
R8951:Ccp110 UTSW 7 118,321,015 (GRCm39) missense possibly damaging 0.70
R8961:Ccp110 UTSW 7 118,322,110 (GRCm39) missense probably damaging 0.96
R9036:Ccp110 UTSW 7 118,324,680 (GRCm39) missense probably damaging 0.98
R9252:Ccp110 UTSW 7 118,321,673 (GRCm39) missense probably benign
R9652:Ccp110 UTSW 7 118,334,553 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- CTATGGCTGCTTGATATGTCATC -3'
(R):5'- TGTGAAAGACGAAACCAGTGTC -3'

Sequencing Primer
(F):5'- GGCTGCTTGATATGTCATCAGTAATC -3'
(R):5'- GTGAAAGACGAAACCAGTGTCTACAC -3'
Posted On 2016-07-22