Incidental Mutation 'R5154:Cpne8'
ID 396608
Institutional Source Beutler Lab
Gene Symbol Cpne8
Ensembl Gene ENSMUSG00000052560
Gene Name copine VIII
Synonyms 1500031E20Rik, 1200003E11Rik
MMRRC Submission 042736-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # R5154 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 90371684-90563591 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 90384121 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 480 (I480L)
Ref Sequence ENSEMBL: ENSMUSP00000067774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064391] [ENSMUST00000088649]
AlphaFold Q9DC53
Predicted Effect probably benign
Transcript: ENSMUST00000064391
AA Change: I480L

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000067774
Gene: ENSMUSG00000052560
AA Change: I480L

DomainStartEndE-ValueType
C2 37 145 9.76e-10 SMART
C2 170 277 1.06e-10 SMART
low complexity region 284 291 N/A INTRINSIC
VWA 320 518 1.34e-9 SMART
low complexity region 559 569 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000088649
SMART Domains Protein: ENSMUSP00000086024
Gene: ENSMUSG00000052560

DomainStartEndE-ValueType
C2 37 139 8.78e-3 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the copine family of highly conserved, calcium-dependent phospholipid binding proteins. The encoded protein has two characteristic C2 domains and a VWFA domain and may play a role in membrane trafficking. A related pseudogene is found on chromosome 8. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A C 4: 39,450,938 (GRCm39) H48P probably damaging Het
Angptl7 C T 4: 148,581,882 (GRCm39) R168H probably damaging Het
Ankrd11 A C 8: 123,619,878 (GRCm39) F1325V probably damaging Het
Ankrd13c A G 3: 157,694,297 (GRCm39) D266G possibly damaging Het
Apold1 A T 6: 134,960,636 (GRCm39) H30L possibly damaging Het
Arel1 A G 12: 84,978,547 (GRCm39) F362L probably benign Het
Arhgef4 T A 1: 34,771,455 (GRCm39) M1254K probably benign Het
Arid2 T A 15: 96,299,866 (GRCm39) V1793E probably damaging Het
Bcl7a T C 5: 123,507,422 (GRCm39) S156P probably damaging Het
Cbr3 A G 16: 93,482,027 (GRCm39) I128V probably benign Het
Cct6b G A 11: 82,630,521 (GRCm39) P299L probably damaging Het
Cd180 A T 13: 102,842,282 (GRCm39) N443Y probably damaging Het
Cd80 A G 16: 38,294,342 (GRCm39) K75R probably benign Het
Cdk1 A T 10: 69,176,298 (GRCm39) probably benign Het
Cep192 T A 18: 67,983,755 (GRCm39) F1565I probably damaging Het
Chtf18 T C 17: 25,942,694 (GRCm39) T412A probably damaging Het
Cit T C 5: 116,126,464 (GRCm39) L1590P probably damaging Het
Clcn2 T A 16: 20,522,053 (GRCm39) R845S probably benign Het
Cndp2 C T 18: 84,686,727 (GRCm39) V432I probably benign Het
Cnnm2 A T 19: 46,751,571 (GRCm39) R454W probably benign Het
Cr2 A G 1: 194,841,754 (GRCm39) W400R probably damaging Het
Cul5 A G 9: 53,537,167 (GRCm39) L528P probably damaging Het
Dlgap5 C T 14: 47,651,177 (GRCm39) V119M probably damaging Het
Dnah12 T C 14: 26,571,320 (GRCm39) S190P probably benign Het
Dnah3 T A 7: 119,551,642 (GRCm39) K2881N probably damaging Het
Dnmt3a A T 12: 3,946,008 (GRCm39) I288F probably damaging Het
Dse T A 10: 34,029,657 (GRCm39) T478S possibly damaging Het
Edn1 C T 13: 42,458,499 (GRCm39) T104I probably benign Het
Eef2 GCCC GCCCC 10: 81,014,601 (GRCm39) probably null Het
Eprs1 A G 1: 185,145,662 (GRCm39) H1157R probably damaging Het
Fam168b G A 1: 34,857,180 (GRCm39) T179I possibly damaging Het
Fzd5 A G 1: 64,775,131 (GRCm39) V210A probably benign Het
Gm9742 T C 13: 8,085,081 (GRCm39) noncoding transcript Het
Gpc1 G A 1: 92,784,751 (GRCm39) G308D probably damaging Het
Gpr141 C T 13: 19,936,412 (GRCm39) R121K probably benign Het
Greb1l A G 18: 10,458,312 (GRCm39) T30A probably benign Het
Grk3 A T 5: 113,089,583 (GRCm39) I281N probably damaging Het
Hnrnpdl A T 5: 100,184,371 (GRCm39) Y289* probably null Het
Hsf2 T G 10: 57,380,808 (GRCm39) V214G probably benign Het
Igf2bp1 G A 11: 95,854,373 (GRCm39) Q563* probably null Het
Il31ra T A 13: 112,660,531 (GRCm39) D605V possibly damaging Het
Insm2 G A 12: 55,646,982 (GRCm39) C242Y probably damaging Het
Ints3 C T 3: 90,322,868 (GRCm39) V121I probably benign Het
Kcnt2 A T 1: 140,278,994 (GRCm39) L48F possibly damaging Het
Kit G A 5: 75,801,200 (GRCm39) V529M probably damaging Het
Mark2 G A 19: 7,260,439 (GRCm39) P13S probably damaging Het
Mthfsd A G 8: 121,825,479 (GRCm39) V364A probably damaging Het
Mtmr11 C G 3: 96,071,636 (GRCm39) S185R probably benign Het
Myot A G 18: 44,487,281 (GRCm39) I373V probably benign Het
N4bp3 A T 11: 51,536,139 (GRCm39) V231D probably benign Het
Or5t17 T C 2: 86,832,382 (GRCm39) V23A probably benign Het
Or8k39 A T 2: 86,563,121 (GRCm39) Y278* probably null Het
Pdcd6ip A G 9: 113,520,610 (GRCm39) F125L probably damaging Het
Prpf39 A T 12: 65,095,051 (GRCm39) Q124L probably benign Het
Reln A T 5: 22,193,763 (GRCm39) N1398K probably damaging Het
Rhod A T 19: 4,482,122 (GRCm39) D97E probably damaging Het
Rxra T C 2: 27,647,880 (GRCm39) probably null Het
Slc1a3 T C 15: 8,672,433 (GRCm39) I349V probably benign Het
Slc37a2 A T 9: 37,142,939 (GRCm39) *502R probably null Het
Slc9b1 T C 3: 135,078,940 (GRCm39) I199T probably damaging Het
Spart C T 3: 55,024,750 (GRCm39) P115L probably damaging Het
Tnpo1 A T 13: 99,006,813 (GRCm39) C205S possibly damaging Het
Tubb1 T A 2: 174,298,657 (GRCm39) I113N probably benign Het
Tyrp1 G A 4: 80,768,954 (GRCm39) V483I probably benign Het
Vwde T C 6: 13,215,757 (GRCm39) S100G probably benign Het
Zfhx3 A T 8: 109,527,207 (GRCm39) I1035F probably damaging Het
Zfp618 G T 4: 63,051,446 (GRCm39) K742N probably damaging Het
Zfp873 T C 10: 81,896,025 (GRCm39) V252A possibly damaging Het
Other mutations in Cpne8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Cpne8 APN 15 90,381,261 (GRCm39) splice site probably benign
IGL00545:Cpne8 APN 15 90,424,462 (GRCm39) missense probably benign
IGL00951:Cpne8 APN 15 90,486,096 (GRCm39) intron probably benign
IGL01069:Cpne8 APN 15 90,499,313 (GRCm39) critical splice donor site probably null
IGL01294:Cpne8 APN 15 90,385,648 (GRCm39) missense probably damaging 0.96
IGL01720:Cpne8 APN 15 90,385,703 (GRCm39) missense probably benign 0.01
IGL01843:Cpne8 APN 15 90,453,700 (GRCm39) missense probably benign 0.17
PIT4431001:Cpne8 UTSW 15 90,436,178 (GRCm39) missense probably damaging 0.98
R0016:Cpne8 UTSW 15 90,385,608 (GRCm39) splice site probably benign
R0016:Cpne8 UTSW 15 90,385,608 (GRCm39) splice site probably benign
R0032:Cpne8 UTSW 15 90,453,771 (GRCm39) splice site probably benign
R0032:Cpne8 UTSW 15 90,453,771 (GRCm39) splice site probably benign
R0096:Cpne8 UTSW 15 90,384,118 (GRCm39) missense probably benign 0.24
R0545:Cpne8 UTSW 15 90,381,278 (GRCm39) missense probably damaging 1.00
R0637:Cpne8 UTSW 15 90,532,824 (GRCm39) missense probably damaging 1.00
R0834:Cpne8 UTSW 15 90,424,462 (GRCm39) missense probably benign
R0894:Cpne8 UTSW 15 90,533,474 (GRCm39) missense probably damaging 0.97
R1568:Cpne8 UTSW 15 90,503,845 (GRCm39) missense probably damaging 0.98
R1629:Cpne8 UTSW 15 90,456,175 (GRCm39) missense probably benign 0.03
R1747:Cpne8 UTSW 15 90,469,118 (GRCm39) missense probably benign 0.00
R1761:Cpne8 UTSW 15 90,532,821 (GRCm39) missense probably damaging 1.00
R1884:Cpne8 UTSW 15 90,532,831 (GRCm39) splice site probably benign
R2357:Cpne8 UTSW 15 90,503,877 (GRCm39) missense probably damaging 0.99
R2434:Cpne8 UTSW 15 90,393,714 (GRCm39) missense probably benign 0.07
R4043:Cpne8 UTSW 15 90,456,204 (GRCm39) missense probably damaging 1.00
R4875:Cpne8 UTSW 15 90,532,771 (GRCm39) splice site probably benign
R4969:Cpne8 UTSW 15 90,503,929 (GRCm39) missense probably damaging 1.00
R4981:Cpne8 UTSW 15 90,563,438 (GRCm39) missense probably benign 0.05
R5086:Cpne8 UTSW 15 90,532,771 (GRCm39) splice site probably benign
R5199:Cpne8 UTSW 15 90,532,812 (GRCm39) missense probably benign 0.10
R5424:Cpne8 UTSW 15 90,400,260 (GRCm39) missense probably benign 0.00
R5528:Cpne8 UTSW 15 90,503,893 (GRCm39) missense possibly damaging 0.95
R5946:Cpne8 UTSW 15 90,373,191 (GRCm39) makesense probably null
R6158:Cpne8 UTSW 15 90,456,191 (GRCm39) missense probably damaging 1.00
R6977:Cpne8 UTSW 15 90,381,294 (GRCm39) missense probably benign 0.10
R7486:Cpne8 UTSW 15 90,400,109 (GRCm39) critical splice donor site probably null
R7522:Cpne8 UTSW 15 90,486,022 (GRCm39) missense probably benign 0.09
R7684:Cpne8 UTSW 15 90,533,450 (GRCm39) missense probably damaging 1.00
R7726:Cpne8 UTSW 15 90,385,621 (GRCm39) missense possibly damaging 0.94
R7799:Cpne8 UTSW 15 90,424,450 (GRCm39) missense probably damaging 1.00
R8162:Cpne8 UTSW 15 90,503,881 (GRCm39) missense probably benign
R8353:Cpne8 UTSW 15 90,425,496 (GRCm39) missense possibly damaging 0.80
R8405:Cpne8 UTSW 15 90,456,235 (GRCm39) missense possibly damaging 0.67
R8842:Cpne8 UTSW 15 90,456,218 (GRCm39) missense probably benign
R8856:Cpne8 UTSW 15 90,486,044 (GRCm39) missense probably benign 0.06
R8922:Cpne8 UTSW 15 90,456,213 (GRCm39) missense probably damaging 1.00
R9058:Cpne8 UTSW 15 90,381,276 (GRCm39) missense probably damaging 1.00
R9550:Cpne8 UTSW 15 90,453,760 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- CCAATGGCAGTTCTTAATTTGCGTG -3'
(R):5'- GCACTTGCTAATTCACTGTAAGAG -3'

Sequencing Primer
(F):5'- TTTGCGTGTGAGCTATATTTATACC -3'
(R):5'- TCTGTGAAAATGTCAGAAAATCAGG -3'
Posted On 2016-06-21