Incidental Mutation 'R4933:Ccp110'
ID 380722
Institutional Source Beutler Lab
Gene Symbol Ccp110
Ensembl Gene ENSMUSG00000033904
Gene Name centriolar coiled coil protein 110
Synonyms 6330503K22Rik, CP110
MMRRC Submission 042533-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.877) question?
Stock # R4933 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 118712552-118737024 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118725319 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 688 (E688G)
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: E688G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000038881
Gene: ENSMUSG00000033904
AA Change: E688G

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: E688G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102167
Gene: ENSMUSG00000033904
AA Change: E688G

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: E524G
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140831
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149056
Predicted Effect probably benign
Transcript: ENSMUST00000208766
Meta Mutation Damage Score 0.0914 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.3%
Validation Efficiency 97% (73/75)
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
2610021A01Rik A G 7: 41,626,802 E643G probably damaging Het
4430402I18Rik G T 19: 28,941,775 H195N possibly damaging Het
Abca2 T C 2: 25,444,827 V1937A probably benign Het
Acot10 A T 15: 20,666,330 N108K possibly damaging Het
Agtpbp1 A T 13: 59,500,572 M478K probably benign Het
Akirin1 G A 4: 123,736,858 S191F probably damaging Het
Aurkb T C 11: 69,048,144 probably benign Het
Cabyr T C 18: 12,744,492 probably benign Het
Champ1 T A 8: 13,879,137 S432T probably benign Het
Crybg1 T A 10: 43,999,213 N633I probably damaging Het
Dagla A T 19: 10,269,715 probably null Het
Dkkl1 A T 7: 45,211,525 L10Q probably null Het
Dnah8 G A 17: 30,748,568 D2585N probably benign Het
E430018J23Rik A G 7: 127,393,349 Y30H probably damaging Het
Fndc7 G T 3: 108,876,670 Q208K probably benign Het
Gins4 A T 8: 23,234,780 C53S probably damaging Het
Gja8 T A 3: 96,919,035 probably benign Het
Golph3l T A 3: 95,617,423 N328K probably benign Het
Haus6 A C 4: 86,585,287 probably benign Het
Hdac5 A G 11: 102,200,563 probably benign Het
Ide A G 19: 37,277,756 Y883H unknown Het
Igf2r A G 17: 12,691,877 probably null Het
Kdm3b T C 18: 34,810,393 Y723H probably damaging Het
Kif21b G A 1: 136,151,325 probably null Het
Lancl1 A T 1: 67,021,034 N77K probably benign Het
Lyst T A 13: 13,637,764 N920K probably damaging Het
Lyst G A 13: 13,759,378 V3554I probably benign Het
Map1a G A 2: 121,305,905 A2163T probably damaging Het
Mapk7 G T 11: 61,493,908 probably benign Het
Myo10 C A 15: 25,781,118 Q154K probably damaging Het
Olfr13 C T 6: 43,174,321 L112F probably benign Het
Olfr132 A G 17: 38,130,550 I214T probably damaging Het
Pcdhgb2 G A 18: 37,692,214 V753M probably benign Het
Pnn T A 12: 59,070,227 L195Q probably damaging Het
Pot1a A G 6: 25,771,541 V227A possibly damaging Het
Ppp1r21 T A 17: 88,547,621 D109E probably benign Het
Prr15l G A 11: 96,934,762 G73S probably damaging Het
Rnf148 A G 6: 23,654,340 F219S probably benign Het
Rnpep C A 1: 135,267,026 probably benign Het
Ryr1 T C 7: 29,104,298 T643A probably damaging Het
Ryr2 A T 13: 11,945,945 C36S probably damaging Het
Shc3 G T 13: 51,442,769 T406N probably benign Het
Slit3 G T 11: 35,688,593 G1199V probably damaging Het
Sptbn5 G A 2: 120,050,120 noncoding transcript Het
St8sia6 T C 2: 13,665,442 N236D probably damaging Het
Stpg1 A T 4: 135,506,416 Q3L probably benign Het
Sult3a1 T A 10: 33,866,554 I59N probably damaging Het
Svs1 T C 6: 48,987,492 S145P probably damaging Het
Vmn1r208 T G 13: 22,772,788 I180L probably benign Het
Vmn2r51 A T 7: 10,098,320 N446K probably damaging Het
Vmn2r63 A T 7: 42,903,978 I618N probably damaging Het
Wrn T C 8: 33,322,343 N182S probably benign Het
Zfp296 G T 7: 19,579,712 C164F possibly damaging Het
Zmynd8 A G 2: 165,834,951 V249A possibly damaging Het
Zswim2 A G 2: 83,925,227 L110P probably damaging Het
Other mutations in Ccp110
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Ccp110 APN 7 118722424 missense possibly damaging 0.79
IGL00481:Ccp110 APN 7 118729997 missense possibly damaging 0.70
IGL00725:Ccp110 APN 7 118730723 missense probably damaging 0.99
IGL00899:Ccp110 APN 7 118722684 missense probably benign
IGL01837:Ccp110 APN 7 118725461 critical splice donor site probably null
PIT4469001:Ccp110 UTSW 7 118722377 missense probably benign 0.06
R1217:Ccp110 UTSW 7 118729944 splice site probably benign
R1640:Ccp110 UTSW 7 118715528 splice site probably null
R1700:Ccp110 UTSW 7 118735313 missense probably damaging 0.99
R1768:Ccp110 UTSW 7 118726024 splice site probably null
R4737:Ccp110 UTSW 7 118724548 missense possibly damaging 0.96
R4859:Ccp110 UTSW 7 118725430 missense possibly damaging 0.93
R4970:Ccp110 UTSW 7 118722391 missense possibly damaging 0.85
R4999:Ccp110 UTSW 7 118730012 nonsense probably null
R5212:Ccp110 UTSW 7 118729696 missense probably damaging 0.99
R5600:Ccp110 UTSW 7 118729725 critical splice donor site probably null
R6953:Ccp110 UTSW 7 118722421 missense possibly damaging 0.85
R6998:Ccp110 UTSW 7 118732897 missense possibly damaging 0.91
R7076:Ccp110 UTSW 7 118732405 missense probably damaging 1.00
R7092:Ccp110 UTSW 7 118735271 missense probably benign 0.26
R7336:Ccp110 UTSW 7 118722210 missense probably damaging 0.99
R7343:Ccp110 UTSW 7 118724575 missense probably benign 0.03
R7866:Ccp110 UTSW 7 118723018 missense probably benign 0.07
R8306:Ccp110 UTSW 7 118722680 missense probably benign 0.12
R8951:Ccp110 UTSW 7 118721792 missense possibly damaging 0.70
R8961:Ccp110 UTSW 7 118722887 missense probably damaging 0.96
R9036:Ccp110 UTSW 7 118725457 missense probably damaging 0.98
R9252:Ccp110 UTSW 7 118722450 missense probably benign
Predicted Primers PCR Primer
(F):5'- TACAAAGTGAAATCAGCTGAACCAG -3'
(R):5'- GGTGGAATGGGCATTAAATTACCAG -3'

Sequencing Primer
(F):5'- ACCAGTTATCCTAACTTTGAGGGAGG -3'
(R):5'- TGGGCATTAAATTACCAGAAGAAACC -3'
Posted On 2016-04-15