Incidental Mutation 'R6535:Cpne6'
ID 520349
Institutional Source Beutler Lab
Gene Symbol Cpne6
Ensembl Gene ENSMUSG00000022212
Gene Name copine VI
Synonyms neuronal copine
MMRRC Submission 044661-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.338) question?
Stock # R6535 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 55747902-55754888 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 55751122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 177 (E177V)
Ref Sequence ENSEMBL: ENSMUSP00000128555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074225] [ENSMUST00000163767] [ENSMUST00000165262] [ENSMUST00000165725] [ENSMUST00000171643]
AlphaFold Q9Z140
Predicted Effect probably benign
Transcript: ENSMUST00000074225
AA Change: E177V

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000073847
Gene: ENSMUSG00000022212
AA Change: E177V

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: ENSMUST00000163767
AA Change: E177V

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000126493
Gene: ENSMUSG00000022212
AA Change: E177V

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: ENSMUST00000165262
AA Change: E177V

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000132999
Gene: ENSMUSG00000022212
AA Change: E177V

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 noncoding transcript
Transcript: ENSMUST00000169869
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170155
Predicted Effect probably benign
Transcript: ENSMUST00000171643
AA Change: E177V

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000128555
Gene: ENSMUSG00000022212
AA Change: E177V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf5 G A 17: 43,750,920 (GRCm39) S495N probably benign Het
Ank3 G T 10: 69,713,684 (GRCm39) A448S probably damaging Het
Apobec3 A G 15: 79,781,950 (GRCm39) *47W probably null Het
B4gat1 T C 19: 5,089,558 (GRCm39) V185A possibly damaging Het
Cers1 T A 8: 70,782,804 (GRCm39) V58D probably damaging Het
Chrm1 T A 19: 8,656,437 (GRCm39) Y381N possibly damaging Het
Cpt1a T A 19: 3,415,788 (GRCm39) probably null Het
Ctsq A T 13: 61,183,140 (GRCm39) I334N probably damaging Het
Dennd6b A G 15: 89,070,570 (GRCm39) L400P probably damaging Het
Fam135b A G 15: 71,493,924 (GRCm39) S2P probably damaging Het
Hip1 T C 5: 135,457,351 (GRCm39) probably null Het
Lama2 A C 10: 26,980,127 (GRCm39) L1896R probably damaging Het
Ly6g6g T C 15: 74,644,074 (GRCm39) S81G probably damaging Het
Macf1 A T 4: 123,365,728 (GRCm39) V3011D possibly damaging Het
Macrod1 A G 19: 7,034,515 (GRCm39) D86G probably damaging Het
Mettl8 G T 2: 70,803,733 (GRCm39) H185N possibly damaging Het
Mipol1 A C 12: 57,352,886 (GRCm39) Q75P possibly damaging Het
Pi4ka C T 16: 17,118,900 (GRCm39) V125M probably damaging Het
Pole A C 5: 110,472,673 (GRCm39) Y1618S probably damaging Het
Prrc2a A G 17: 35,381,241 (GRCm39) V21A unknown Het
Rhbdl1 A T 17: 26,054,799 (GRCm39) Y111* probably null Het
Sbk3 A C 7: 4,972,840 (GRCm39) M110R possibly damaging Het
Scn8a G A 15: 100,857,588 (GRCm39) probably benign Het
Tcstv2c T C 13: 120,616,190 (GRCm39) S10P probably damaging Het
Tshz3 T C 7: 36,468,214 (GRCm39) S68P probably damaging Het
Vmn1r88 C T 7: 12,912,112 (GRCm39) T156I probably benign Het
Wrn T C 8: 33,826,131 (GRCm39) H177R probably 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
R1898:Cpne6 UTSW 14 55,754,485 (GRCm39) missense possibly damaging 0.88
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
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'- ATCCACGCCCCATTAGAGAG -3'
(R):5'- ATGCTCCAGGGCTTTACCTTG -3'

Sequencing Primer
(F):5'- GCCCCATTAGAGAGAGCCATAG -3'
(R):5'- TGGATGTCACAGCTGCAC -3'
Posted On 2018-06-06