Incidental Mutation 'R7799:Cpne8'
ID 600451
Institutional Source Beutler Lab
Gene Symbol Cpne8
Ensembl Gene ENSMUSG00000052560
Gene Name copine VIII
Synonyms 1500031E20Rik, 1200003E11Rik
MMRRC Submission 045854-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # R7799 (G1)
Quality Score 103.008
Status Validated
Chromosome 15
Chromosomal Location 90371684-90563591 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 90424450 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 313 (D313V)
Ref Sequence ENSEMBL: ENSMUSP00000067774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064391] [ENSMUST00000088649]
AlphaFold Q9DC53
Predicted Effect probably damaging
Transcript: ENSMUST00000064391
AA Change: D313V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067774
Gene: ENSMUSG00000052560
AA Change: D313V

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (50/51)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,775,362 (GRCm39) V1517A probably benign Het
Adam17 C A 12: 21,390,493 (GRCm39) G410C probably damaging Het
Adcy3 A G 12: 4,254,762 (GRCm39) D698G probably damaging Het
Afap1 T A 5: 36,131,742 (GRCm39) N356K possibly damaging Het
Afm A G 5: 90,671,713 (GRCm39) N132D probably benign Het
Bsdc1 T A 4: 129,359,141 (GRCm39) probably null Het
Ccdc121rt2 T G 5: 112,597,698 (GRCm39) Y82D not run Het
Ccdc47 T C 11: 106,101,143 (GRCm39) E173G possibly damaging Het
Cit T G 5: 116,001,027 (GRCm39) F142C probably benign Het
Cnga3 A G 1: 37,300,852 (GRCm39) D524G probably damaging Het
Ell3 TCTCCTC TCTC 2: 121,269,937 (GRCm39) probably benign Het
Flrt1 C A 19: 7,073,229 (GRCm39) L439F possibly damaging Het
Gkn1 A T 6: 87,325,163 (GRCm39) I82N probably damaging Het
Gm14410 C A 2: 176,885,613 (GRCm39) C217F probably damaging Het
Gm14412 G T 2: 177,007,590 (GRCm39) H102N probably benign Het
Gm3159 A T 14: 4,397,585 (GRCm38) probably benign Het
Golm2 T C 2: 121,764,022 (GRCm39) V434A probably benign Het
Helz2 A G 2: 180,879,782 (GRCm39) M612T probably benign Het
Iars1 T A 13: 49,876,494 (GRCm39) I853N probably damaging Het
Kcna4 A C 2: 107,126,237 (GRCm39) I324L possibly damaging Het
Kcnh1 T C 1: 192,117,183 (GRCm39) S690P probably damaging Het
Kpna3 T C 14: 61,622,182 (GRCm39) Y194C probably damaging Het
Lrrc56 T C 7: 140,789,515 (GRCm39) S511P probably damaging Het
Ltbp1 A G 17: 75,559,351 (GRCm39) Y280C probably damaging Het
Macf1 A G 4: 123,420,906 (GRCm39) I116T probably benign Het
Mmp16 A T 4: 18,112,112 (GRCm39) N496I probably damaging Het
Mon2 T C 10: 122,878,236 (GRCm39) D229G probably benign Het
Or2b2 T A 13: 21,887,369 (GRCm39) L66Q probably damaging Het
Or2j6 A T 7: 139,980,377 (GRCm39) M194K probably damaging Het
Or52s1 A G 7: 102,861,186 (GRCm39) I40V probably benign Het
Or5p61 T A 7: 107,758,637 (GRCm39) I148F probably benign Het
Or5w14 G T 2: 87,541,428 (GRCm39) T274K possibly damaging Het
Pkp1 A G 1: 135,817,695 (GRCm39) F147L possibly damaging Het
Ppp1r3e T C 14: 55,114,672 (GRCm39) Q30R probably damaging Het
Ppp2r5b C A 19: 6,282,628 (GRCm39) R174L probably benign Het
Pramel58 A G 5: 94,831,287 (GRCm39) D98G possibly damaging Het
Qrfprl G T 6: 65,433,121 (GRCm39) A314S possibly damaging Het
Rbm15 C T 3: 107,239,459 (GRCm39) R313H probably damaging Het
Rgs18 A G 1: 144,629,603 (GRCm39) F219L probably damaging Het
Ryr1 T C 7: 28,702,985 (GRCm39) probably null Het
Sirpd T A 3: 15,361,723 (GRCm39) probably null Het
Sirt4 T G 5: 115,617,805 (GRCm39) I284L probably benign Het
Slc25a11 A G 11: 70,536,005 (GRCm39) V243A probably benign Het
Syde1 A G 10: 78,425,741 (GRCm39) I142T probably benign Het
Synj2 A G 17: 6,088,098 (GRCm39) E1383G probably benign Het
Syt4 A T 18: 31,573,245 (GRCm39) C423* probably null Het
Tfr2 T A 5: 137,569,986 (GRCm39) Y131N possibly damaging Het
Tgm1 C T 14: 55,949,932 (GRCm39) R92Q unknown Het
Thoc1 A T 18: 9,984,441 (GRCm39) D309V probably damaging Het
Vmn2r24 C T 6: 123,757,422 (GRCm39) H97Y probably benign Het
Wbp1 A T 6: 83,097,176 (GRCm39) Y89* probably null Het
Wnk1 A G 6: 119,926,137 (GRCm39) L1358P probably benign Het
Zfp14 T C 7: 29,738,368 (GRCm39) T206A possibly damaging Het
Zfp748 T C 13: 67,689,608 (GRCm39) T551A probably benign Het
Zfp9 A T 6: 118,441,843 (GRCm39) V273E probably 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
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
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'- CCACTAAAATCTGTAGTGGCCAG -3'
(R):5'- GACAAATGCACATCTTAGCGG -3'

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