Incidental Mutation 'R1898:Cpne6'
ID 212156
Institutional Source Beutler Lab
Gene Symbol Cpne6
Ensembl Gene ENSMUSG00000022212
Gene Name copine VI
Synonyms neuronal copine
MMRRC Submission 039918-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.338) question?
Stock # R1898 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 55747902-55754888 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 55754485 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 538 (I538F)
Ref Sequence ENSEMBL: ENSMUSP00000132999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062232] [ENSMUST00000074225] [ENSMUST00000111404] [ENSMUST00000163767] [ENSMUST00000165262] [ENSMUST00000165725] [ENSMUST00000171643] [ENSMUST00000178694] [ENSMUST00000228287]
AlphaFold Q9Z140
Predicted Effect probably benign
Transcript: ENSMUST00000062232
SMART Domains Protein: ENSMUSP00000054457
Gene: ENSMUSG00000040632

DomainStartEndE-ValueType
low complexity region 41 54 N/A INTRINSIC
Pfam:Maf_N 67 101 7.3e-18 PFAM
BRLZ 157 221 1.6e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000074225
AA Change: I539F

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000073847
Gene: ENSMUSG00000022212
AA Change: I539F

DomainStartEndE-ValueType
C2 21 126 6.65e-3 SMART
C2 155 258 7.51e-11 SMART
VWA 304 506 4.37e-14 SMART
low complexity region 543 557 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111404
SMART Domains Protein: ENSMUSP00000107035
Gene: ENSMUSG00000040632

DomainStartEndE-ValueType
low complexity region 41 54 N/A INTRINSIC
Pfam:Maf_N 67 102 2e-15 PFAM
BRLZ 157 221 1.6e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000163767
AA Change: I539F

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000126493
Gene: ENSMUSG00000022212
AA Change: I539F

DomainStartEndE-ValueType
C2 21 126 6.65e-3 SMART
C2 155 258 7.51e-11 SMART
VWA 304 506 4.37e-14 SMART
low complexity region 543 557 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000165262
AA Change: I538F

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000132999
Gene: ENSMUSG00000022212
AA Change: I538F

DomainStartEndE-ValueType
C2 21 126 6.65e-3 SMART
C2 155 258 7.51e-11 SMART
VWA 304 505 2.34e-14 SMART
low complexity region 542 556 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165725
SMART Domains Protein: ENSMUSP00000130799
Gene: ENSMUSG00000022212

DomainStartEndE-ValueType
C2 21 126 1.22e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000171643
AA Change: I539F

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000128555
Gene: ENSMUSG00000022212
AA Change: I539F

DomainStartEndE-ValueType
C2 21 126 6.65e-3 SMART
C2 155 258 7.51e-11 SMART
VWA 304 506 4.37e-14 SMART
low complexity region 543 557 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169869
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170155
Predicted Effect probably benign
Transcript: ENSMUST00000178694
SMART Domains Protein: ENSMUSP00000136445
Gene: ENSMUSG00000040632

DomainStartEndE-ValueType
low complexity region 41 54 N/A INTRINSIC
Pfam:Maf_N 67 102 2e-15 PFAM
BRLZ 157 221 1.6e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226858
Predicted Effect probably benign
Transcript: ENSMUST00000228287
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228351
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.8%
  • 10x: 95.3%
  • 20x: 92.9%
Validation Efficiency
MGI Phenotype FUNCTION: Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encodes a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 C A 4: 53,071,977 (GRCm39) R1195L probably benign Het
Abca14 A G 7: 119,850,392 (GRCm39) Y748C probably damaging Het
Abca6 A G 11: 110,099,625 (GRCm39) F974S probably damaging Het
Acyp1 T C 12: 85,335,114 (GRCm39) K2E probably benign Het
Ahcy T A 2: 154,904,173 (GRCm39) S355C probably benign Het
AI182371 A G 2: 34,990,661 (GRCm39) V12A probably damaging Het
Ankrd36 T C 11: 5,525,683 (GRCm39) I215T probably benign Het
Aox1 C T 1: 58,117,601 (GRCm39) R828C probably damaging Het
Atp1a4 T A 1: 172,062,615 (GRCm39) I631F probably damaging Het
Brd10 T C 19: 29,712,532 (GRCm39) N789S possibly damaging Het
Brinp3 T G 1: 146,776,987 (GRCm39) V478G possibly damaging Het
Cadm2 G A 16: 66,612,271 (GRCm39) S106L probably damaging Het
Celf2 C T 2: 6,608,975 (GRCm39) V95M probably damaging Het
Chka A T 19: 3,942,205 (GRCm39) E404D probably damaging Het
Clec5a A C 6: 40,558,870 (GRCm39) V72G probably benign Het
Cnn1 T C 9: 22,012,560 (GRCm39) probably null Het
Coq6 A G 12: 84,413,737 (GRCm39) E89G probably benign Het
Crx G A 7: 15,602,148 (GRCm39) P177S probably damaging Het
Cysltr2 G T 14: 73,266,973 (GRCm39) P246T probably damaging Het
Decr1 A G 4: 15,929,801 (GRCm39) I164T probably damaging Het
Dmtf1 A T 5: 9,178,091 (GRCm39) V315E probably damaging Het
Dnah7b A G 1: 46,275,874 (GRCm39) N2587S probably benign Het
E2f6 C A 12: 16,874,581 (GRCm39) T221K probably benign Het
Fat3 T G 9: 15,871,426 (GRCm39) D3655A probably damaging Het
Fbxw28 G A 9: 109,152,452 (GRCm39) T384I probably benign Het
Fes T A 7: 80,029,659 (GRCm39) I608F probably damaging Het
Flnc G A 6: 29,438,665 (GRCm39) W186* probably null Het
Gabrb2 A G 11: 42,484,659 (GRCm39) K239E possibly damaging Het
Gen1 T C 12: 11,291,609 (GRCm39) R727G probably benign Het
Glb1 T A 9: 114,253,103 (GRCm39) V184E probably damaging Het
Gngt1 A T 6: 3,996,724 (GRCm39) I57F possibly damaging Het
Ice1 T C 13: 70,750,426 (GRCm39) I87V possibly damaging Het
Itih1 A G 14: 30,654,244 (GRCm39) Y674H probably benign Het
Itsn1 T A 16: 91,696,468 (GRCm39) C24S probably damaging Het
Loxl1 A G 9: 58,204,961 (GRCm39) V418A probably damaging Het
Myh10 A G 11: 68,662,732 (GRCm39) N595S probably damaging Het
Myo5c C T 9: 75,204,908 (GRCm39) T1587I probably damaging Het
Npat T A 9: 53,474,937 (GRCm39) F910I probably damaging Het
Nradd T C 9: 110,450,676 (GRCm39) Y167C probably damaging Het
Nt5dc1 T C 10: 34,189,631 (GRCm39) E352G probably benign Het
Numa1 T C 7: 101,641,927 (GRCm39) probably null Het
Odc1 T A 12: 17,598,842 (GRCm39) S241T probably damaging Het
Or11g2 A T 14: 50,856,231 (GRCm39) D184V probably damaging Het
Or14j7 A T 17: 38,234,516 (GRCm39) N20Y possibly damaging Het
Pcnx3 T C 19: 5,722,615 (GRCm39) D951G probably damaging Het
Pigg T C 5: 108,484,408 (GRCm39) F685L probably benign Het
Pnpla7 T A 2: 24,943,796 (GRCm39) probably benign Het
Pramel16 C T 4: 143,677,298 (GRCm39) V94M probably damaging Het
Rcsd1 C T 1: 165,486,998 (GRCm39) A72T probably benign Het
Rp1l1 A T 14: 64,269,039 (GRCm39) T1542S probably benign Het
Sct A T 7: 140,858,761 (GRCm39) L57Q probably damaging Het
Serpinb3b T C 1: 107,082,317 (GRCm39) S316G possibly damaging Het
Shprh T C 10: 11,062,613 (GRCm39) L1240S probably damaging Het
Slc4a1 C T 11: 102,241,133 (GRCm39) E924K probably damaging Het
Sp7 A T 15: 102,267,453 (GRCm39) Y118N possibly damaging Het
Srebf2 A G 15: 82,087,936 (GRCm39) T219A probably damaging Het
Tenm3 G T 8: 48,763,796 (GRCm39) P753T probably damaging Het
Tonsl A T 15: 76,523,053 (GRCm39) probably null Het
Trio A T 15: 27,742,466 (GRCm39) S2675T possibly damaging Het
Tspan12 T C 6: 21,795,693 (GRCm39) T166A probably damaging Het
Ttll4 A G 1: 74,736,641 (GRCm39) D1122G probably benign Het
Vmn1r77 G A 7: 11,775,550 (GRCm39) A41T probably damaging Het
Xpo7 A T 14: 70,933,064 (GRCm39) F276Y probably benign Het
Zdhhc1 A T 8: 106,205,378 (GRCm39) probably null Het
Zfp319 C A 8: 96,055,417 (GRCm39) C262F probably damaging Het
Zfp442 C T 2: 150,250,582 (GRCm39) C383Y probably damaging Het
Zfp57 G T 17: 37,320,650 (GRCm39) R168L possibly damaging Het
Other mutations in Cpne6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01064:Cpne6 APN 14 55,750,187 (GRCm39) missense probably damaging 1.00
IGL01306:Cpne6 APN 14 55,752,706 (GRCm39) missense probably damaging 1.00
IGL01548:Cpne6 APN 14 55,750,183 (GRCm39) missense probably damaging 0.99
IGL01867:Cpne6 APN 14 55,751,137 (GRCm39) missense probably benign 0.16
IGL01902:Cpne6 APN 14 55,750,207 (GRCm39) missense possibly damaging 0.80
IGL02669:Cpne6 APN 14 55,751,283 (GRCm39) missense probably benign 0.09
IGL02695:Cpne6 APN 14 55,752,037 (GRCm39) missense probably damaging 1.00
IGL03082:Cpne6 APN 14 55,753,760 (GRCm39) missense probably damaging 1.00
ANU23:Cpne6 UTSW 14 55,752,706 (GRCm39) missense probably damaging 1.00
ANU23:Cpne6 UTSW 14 55,749,459 (GRCm39) missense probably benign 0.05
R0504:Cpne6 UTSW 14 55,752,059 (GRCm39) missense probably damaging 0.99
R1472:Cpne6 UTSW 14 55,752,092 (GRCm39) missense probably benign 0.00
R1538:Cpne6 UTSW 14 55,752,677 (GRCm39) missense possibly damaging 0.92
R2679:Cpne6 UTSW 14 55,753,786 (GRCm39) missense possibly damaging 0.94
R4235:Cpne6 UTSW 14 55,751,057 (GRCm39) intron probably benign
R4453:Cpne6 UTSW 14 55,750,054 (GRCm39) missense probably damaging 1.00
R4471:Cpne6 UTSW 14 55,754,089 (GRCm39) missense probably damaging 1.00
R4823:Cpne6 UTSW 14 55,754,467 (GRCm39) missense probably damaging 1.00
R5171:Cpne6 UTSW 14 55,749,605 (GRCm39) missense possibly damaging 0.71
R5243:Cpne6 UTSW 14 55,750,204 (GRCm39) missense probably damaging 1.00
R5999:Cpne6 UTSW 14 55,750,516 (GRCm39) missense probably benign
R6111:Cpne6 UTSW 14 55,752,091 (GRCm39) missense probably benign 0.18
R6475:Cpne6 UTSW 14 55,751,110 (GRCm39) missense probably damaging 1.00
R6535:Cpne6 UTSW 14 55,751,122 (GRCm39) missense probably benign 0.30
R6787:Cpne6 UTSW 14 55,752,701 (GRCm39) missense probably damaging 1.00
R7318:Cpne6 UTSW 14 55,751,751 (GRCm39) missense possibly damaging 0.95
R7453:Cpne6 UTSW 14 55,749,473 (GRCm39) missense probably benign 0.08
R7707:Cpne6 UTSW 14 55,753,771 (GRCm39) missense probably damaging 1.00
R7934:Cpne6 UTSW 14 55,750,066 (GRCm39) missense possibly damaging 0.74
R7935:Cpne6 UTSW 14 55,750,066 (GRCm39) missense possibly damaging 0.74
R7998:Cpne6 UTSW 14 55,753,751 (GRCm39) missense probably damaging 0.98
R8083:Cpne6 UTSW 14 55,750,698 (GRCm39) missense probably benign 0.42
R8141:Cpne6 UTSW 14 55,750,066 (GRCm39) missense possibly damaging 0.74
R8144:Cpne6 UTSW 14 55,750,066 (GRCm39) missense possibly damaging 0.74
R8145:Cpne6 UTSW 14 55,752,025 (GRCm39) missense probably benign 0.10
R8190:Cpne6 UTSW 14 55,749,485 (GRCm39) missense probably benign 0.03
R8919:Cpne6 UTSW 14 55,750,104 (GRCm39) missense probably benign 0.00
R8966:Cpne6 UTSW 14 55,750,060 (GRCm39) missense probably damaging 0.99
R8983:Cpne6 UTSW 14 55,753,711 (GRCm39) missense probably damaging 1.00
R9426:Cpne6 UTSW 14 55,751,176 (GRCm39) critical splice donor site probably null
R9540:Cpne6 UTSW 14 55,750,108 (GRCm39) missense probably benign 0.14
R9772:Cpne6 UTSW 14 55,754,117 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- GGGCTTCTCAACAACTCGTG -3'
(R):5'- CATTACGCCAGCCAAGATGG -3'

Sequencing Primer
(F):5'- ATGTCCTCCAAAGGTCACTGG -3'
(R):5'- CCAAGATGGGCTATTCAGAAGCTC -3'
Posted On 2014-06-30