Incidental Mutation 'R1568:Cpne8'
ID 175446
Institutional Source Beutler Lab
Gene Symbol Cpne8
Ensembl Gene ENSMUSG00000052560
Gene Name copine VIII
Synonyms 1500031E20Rik, 1200003E11Rik
MMRRC Submission 039607-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # R1568 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 90371684-90563591 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 90503845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 107 (R107S)
Ref Sequence ENSEMBL: ENSMUSP00000086024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064391] [ENSMUST00000088649]
AlphaFold Q9DC53
Predicted Effect probably benign
Transcript: ENSMUST00000064391
AA Change: R107S

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000067774
Gene: ENSMUSG00000052560
AA Change: R107S

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 damaging
Transcript: ENSMUST00000088649
AA Change: R107S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000086024
Gene: ENSMUSG00000052560
AA Change: R107S

DomainStartEndE-ValueType
C2 37 139 8.78e-3 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.9%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 T G 8: 25,137,799 (GRCm39) probably null Het
Adgb A T 10: 10,318,409 (GRCm39) Y138* probably null Het
Adra1d T C 2: 131,388,092 (GRCm39) R488G possibly damaging Het
Ahnak G A 19: 8,979,739 (GRCm39) G341E probably damaging Het
Ankmy1 T C 1: 92,808,838 (GRCm39) D690G probably damaging Het
Arhgef38 C T 3: 132,838,225 (GRCm39) E21K probably damaging Het
Atp8b2 T C 3: 89,857,155 (GRCm39) M402V probably damaging Het
Atp8b4 G T 2: 126,167,314 (GRCm39) H1062N probably benign Het
Bdnf A G 2: 109,554,139 (GRCm39) H131R probably damaging Het
Cblb C T 16: 51,956,192 (GRCm39) T265M probably damaging Het
Cenpe T A 3: 134,945,519 (GRCm39) M1011K probably benign Het
Clca3a2 A T 3: 144,781,410 (GRCm39) Y711* probably null Het
Clca4a A G 3: 144,658,690 (GRCm39) Y842H probably benign Het
Clspn T A 4: 126,475,310 (GRCm39) M1021K probably benign Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Dna2 C T 10: 62,784,966 (GRCm39) R28W probably benign Het
Dnah5 T A 15: 28,409,323 (GRCm39) N3580K probably damaging Het
Dsp T C 13: 38,359,123 (GRCm39) I298T probably damaging Het
Dync2h1 T C 9: 7,157,553 (GRCm39) K858R probably null Het
Fasn A T 11: 120,704,075 (GRCm39) V1448E possibly damaging Het
Ghdc A G 11: 100,659,331 (GRCm39) I322T probably benign Het
Gins2 T C 8: 121,308,939 (GRCm39) D105G probably damaging Het
Insr A T 8: 3,215,576 (GRCm39) D975E probably benign Het
Klrc3 T C 6: 129,616,510 (GRCm39) D169G probably benign Het
Krt76 T A 15: 101,793,443 (GRCm39) S532C unknown Het
Lamp3 A T 16: 19,492,275 (GRCm39) M323K probably damaging Het
Lgmn T C 12: 102,360,868 (GRCm39) I423M possibly damaging Het
Lpgat1 A T 1: 191,508,538 (GRCm39) T359S possibly damaging Het
Lrguk T A 6: 34,063,373 (GRCm39) I466N probably damaging Het
Magi3 A C 3: 103,996,843 (GRCm39) M234R probably benign Het
Myh14 G A 7: 44,261,122 (GRCm39) R1042* probably null Het
Nfia T G 4: 97,999,461 (GRCm39) Y378D possibly damaging Het
Npffr1 T A 10: 61,462,012 (GRCm39) S383T possibly damaging Het
Or4f57 C A 2: 111,790,585 (GRCm39) V278F probably benign Het
Or52n4 T A 7: 104,293,977 (GRCm39) I199F probably benign Het
Or5b112 C A 19: 13,319,539 (GRCm39) P139Q probably benign Het
Or9s14 T C 1: 92,535,676 (GRCm39) L39P probably damaging Het
Osr1 G A 12: 9,629,798 (GRCm39) probably null Het
Pde4b A C 4: 102,454,896 (GRCm39) R375S probably damaging Het
Pde8a A G 7: 80,942,011 (GRCm39) E150G probably damaging Het
Pkhd1l1 A T 15: 44,408,897 (GRCm39) probably null Het
Ppp3ca A G 3: 136,634,305 (GRCm39) T422A probably benign Het
Proser1 T C 3: 53,385,180 (GRCm39) V354A possibly damaging Het
Rgs20 G T 1: 5,091,050 (GRCm39) R127S probably benign Het
Sanbr T C 11: 23,539,971 (GRCm39) K48E probably damaging Het
Sec22a T C 16: 35,167,998 (GRCm39) D171G probably benign Het
Secisbp2 A G 13: 51,827,143 (GRCm39) E417G possibly damaging Het
Serpinb6b T C 13: 33,158,895 (GRCm39) L32S probably damaging Het
Sf3b1 C G 1: 55,058,554 (GRCm39) E12Q possibly damaging Het
Slc39a10 A T 1: 46,865,375 (GRCm39) S487T probably benign Het
Slc6a1 G T 6: 114,284,731 (GRCm39) G263V probably damaging Het
Spag6 A G 2: 18,737,925 (GRCm39) D265G probably benign Het
Spata31e2 T C 1: 26,724,950 (GRCm39) T77A probably benign Het
Sybu G T 15: 44,582,228 (GRCm39) S132* probably null Het
Virma T C 4: 11,528,776 (GRCm39) S1288P probably damaging Het
Vmn1r229 T A 17: 21,035,067 (GRCm39) V104D probably damaging Het
Vmn1r238 T C 18: 3,123,358 (GRCm39) T19A probably benign Het
Vmn2r86 C T 10: 130,289,010 (GRCm39) V164I probably benign Het
Wfdc13 G T 2: 164,528,854 (GRCm39) A64S probably damaging Het
Zfp873 C A 10: 81,896,113 (GRCm39) H318Q probably damaging Het
Zyg11a A G 4: 108,040,843 (GRCm39) probably null 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
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
R5154:Cpne8 UTSW 15 90,384,121 (GRCm39) missense probably benign 0.10
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'- TGTGCTCCAGCTCTGGCTGAATAG -3'
(R):5'- CGGTAGTTTGGTCTTCAGGCACATC -3'

Sequencing Primer
(F):5'- GCTCTGGCTGAATAGAATAAAACTG -3'
(R):5'- AGGCACATCTCTCTGAAGCTG -3'
Posted On 2014-04-24