Incidental Mutation 'IGL00951:Cpne8'
ID 29081
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpne8
Ensembl Gene ENSMUSG00000052560
Gene Name copine VIII
Synonyms 1500031E20Rik, 1200003E11Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # IGL00951
Quality Score
Status
Chromosome 15
Chromosomal Location 90371684-90563591 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 90486096 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000086024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064391] [ENSMUST00000088649]
AlphaFold Q9DC53
Predicted Effect probably benign
Transcript: ENSMUST00000064391
SMART Domains Protein: ENSMUSP00000067774
Gene: ENSMUSG00000052560

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
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armc8 C A 9: 99,387,757 (GRCm39) R388L probably benign Het
Bcan T C 3: 87,901,481 (GRCm39) E407G probably damaging Het
Brms1l A G 12: 55,912,834 (GRCm39) I276V possibly damaging Het
Brpf1 C A 6: 113,299,514 (GRCm39) D1182E probably damaging Het
Clpb A G 7: 101,400,467 (GRCm39) M268V probably benign Het
Ddx25 A T 9: 35,464,131 (GRCm39) probably null Het
Dgki A G 6: 36,977,094 (GRCm39) M672T probably damaging Het
Fhdc1 T C 3: 84,371,620 (GRCm39) T112A possibly damaging Het
Galnt7 A T 8: 58,036,858 (GRCm39) M177K probably damaging Het
Gucy1a1 T C 3: 82,018,498 (GRCm39) D113G probably benign Het
Hp T C 8: 110,304,129 (GRCm39) D24G possibly damaging Het
Jak2 A G 19: 29,276,983 (GRCm39) R847G probably damaging Het
Lama2 A T 10: 26,906,281 (GRCm39) D2391E probably benign Het
Mpzl1 A G 1: 165,433,391 (GRCm39) F87L probably damaging Het
Ms4a4d A T 19: 11,532,285 (GRCm39) I144F probably benign Het
Or5h18 G A 16: 58,848,216 (GRCm39) T18I probably benign Het
Or5h23 A C 16: 58,906,756 (GRCm39) L30R possibly damaging Het
Or5i1 A T 2: 87,612,883 (GRCm39) I2F probably benign Het
Or6c219 A G 10: 129,781,581 (GRCm39) S2P probably damaging Het
Or6d14 G A 6: 116,534,027 (GRCm39) V214I probably benign Het
Prr16 A G 18: 51,436,411 (GRCm39) R297G probably damaging Het
Ralgps1 A C 2: 33,163,614 (GRCm39) L148V probably damaging Het
Rara A G 11: 98,858,992 (GRCm39) D150G probably benign Het
Rb1 A T 14: 73,559,512 (GRCm39) V64D probably damaging Het
Ros1 A G 10: 52,019,348 (GRCm39) Y742H probably damaging Het
Rpl7a A G 2: 26,802,441 (GRCm39) D160G possibly damaging Het
Sdccag8 A G 1: 176,705,568 (GRCm39) M461V possibly damaging Het
Tagln T A 9: 45,842,170 (GRCm39) N141I probably benign Het
Tas2r140 A T 6: 40,468,913 (GRCm39) R248* probably null Het
Ube2j2 C T 4: 156,030,834 (GRCm39) probably benign Het
Ulk1 A G 5: 110,940,270 (GRCm39) C384R possibly damaging Het
Ush2a A T 1: 187,995,662 (GRCm39) E144D probably benign Het
Vkorc1l1 C T 5: 130,011,108 (GRCm39) T144I probably benign Het
Zfp235 T C 7: 23,836,505 (GRCm39) F17S 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
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
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
Posted On 2013-04-17