Incidental Mutation 'IGL02695:Cpne6'
ID303888
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpne6
Ensembl Gene ENSMUSG00000022212
Gene Namecopine VI
Synonymsneuronal copine
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.400) question?
Stock #IGL02695
Quality Score
Status
Chromosome14
Chromosomal Location55510445-55517431 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 55514580 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 265 (I265F)
Ref Sequence ENSEMBL: ENSMUSP00000132999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062232] [ENSMUST00000074225] [ENSMUST00000111404] [ENSMUST00000163767] [ENSMUST00000165262] [ENSMUST00000165725] [ENSMUST00000171643] [ENSMUST00000178694]
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 probably damaging
Transcript: ENSMUST00000074225
AA Change: I265F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000073847
Gene: ENSMUSG00000022212
AA Change: I265F

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 probably damaging
Transcript: ENSMUST00000163767
AA Change: I265F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126493
Gene: ENSMUSG00000022212
AA Change: I265F

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 damaging
Transcript: ENSMUST00000165262
AA Change: I265F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132999
Gene: ENSMUSG00000022212
AA Change: I265F

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 damaging
Transcript: ENSMUST00000171643
AA Change: I265F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128555
Gene: ENSMUSG00000022212
AA Change: I265F

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: 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: ENSMUST00000228351
Coding Region Coverage
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 A T 14: 66,050,480 M389K probably benign Het
Adamts4 C A 1: 171,252,634 T252K probably damaging Het
Adgrb2 G A 4: 130,018,832 G1293D probably damaging Het
Ankfn1 T C 11: 89,391,819 E1013G probably damaging Het
Ankrd34b C A 13: 92,439,612 H451N possibly damaging Het
Cd300c2 C T 11: 115,001,553 probably benign Het
Cntnap3 T G 13: 64,772,132 Q637P probably benign Het
Dot1l C A 10: 80,777,608 T18K probably damaging Het
Fam83c T C 2: 155,831,515 D251G probably benign Het
Fyb A G 15: 6,580,921 K325R probably damaging Het
Gas2l2 T A 11: 83,422,642 I615F probably damaging Het
Gigyf2 A G 1: 87,416,827 N494S probably benign Het
Gm6614 A G 6: 141,987,760 V433A probably damaging Het
Gnaz T C 10: 74,992,142 probably null Het
Haus5 A T 7: 30,663,277 L36Q probably damaging Het
Hecw2 C T 1: 53,926,209 G486D possibly damaging Het
Hmcn2 T C 2: 31,408,973 F2777S possibly damaging Het
Il1rl1 T C 1: 40,446,558 S290P possibly damaging Het
Itgam G T 7: 128,085,941 A409S possibly damaging Het
Kdm5b T A 1: 134,604,485 M467K possibly damaging Het
Lama2 A C 10: 27,000,775 V2725G probably benign Het
Lhpp G A 7: 132,650,334 R234Q probably damaging Het
Maf1 T C 15: 76,352,755 S65P possibly damaging Het
Mgat5 T A 1: 127,412,131 H416Q probably damaging Het
Mta2 A G 19: 8,948,364 T408A probably benign Het
Neb T A 2: 52,255,591 I2974F probably damaging Het
Neb C T 2: 52,211,596 probably benign Het
Olfr153 C T 2: 87,532,117 T28I probably benign Het
Olfr348 C T 2: 36,787,320 S265L possibly damaging Het
Olfr656 A G 7: 104,618,471 H264R probably damaging Het
Olfr710 A G 7: 106,944,663 S113P possibly damaging Het
Pcca T A 14: 122,582,738 probably benign Het
Prlr T C 15: 10,328,365 F309L probably benign Het
Slc28a1 A T 7: 81,167,991 Y536F probably benign Het
Stab1 T A 14: 31,159,271 N601Y probably damaging Het
Stil G T 4: 115,016,175 V332F probably damaging Het
Stk11 A G 10: 80,125,477 probably null Het
Tmem59 A G 4: 107,193,314 N147S probably benign Het
Other mutations in Cpne6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01064:Cpne6 APN 14 55512730 missense probably damaging 1.00
IGL01306:Cpne6 APN 14 55515249 missense probably damaging 1.00
IGL01548:Cpne6 APN 14 55512726 missense probably damaging 0.99
IGL01867:Cpne6 APN 14 55513680 missense probably benign 0.16
IGL01902:Cpne6 APN 14 55512750 missense possibly damaging 0.80
IGL02669:Cpne6 APN 14 55513826 missense probably benign 0.09
IGL03082:Cpne6 APN 14 55516303 missense probably damaging 1.00
ANU23:Cpne6 UTSW 14 55512002 missense probably benign 0.05
ANU23:Cpne6 UTSW 14 55515249 missense probably damaging 1.00
R0504:Cpne6 UTSW 14 55514602 missense probably damaging 0.99
R1472:Cpne6 UTSW 14 55514635 missense probably benign 0.00
R1538:Cpne6 UTSW 14 55515220 missense possibly damaging 0.92
R1898:Cpne6 UTSW 14 55517028 missense possibly damaging 0.88
R2679:Cpne6 UTSW 14 55516329 missense possibly damaging 0.94
R4235:Cpne6 UTSW 14 55513600 intron probably benign
R4453:Cpne6 UTSW 14 55512597 missense probably damaging 1.00
R4471:Cpne6 UTSW 14 55516632 missense probably damaging 1.00
R4823:Cpne6 UTSW 14 55517010 missense probably damaging 1.00
R5171:Cpne6 UTSW 14 55512148 missense possibly damaging 0.71
R5243:Cpne6 UTSW 14 55512747 missense probably damaging 1.00
R5999:Cpne6 UTSW 14 55513059 missense probably benign
R6111:Cpne6 UTSW 14 55514634 missense probably benign 0.18
R6475:Cpne6 UTSW 14 55513653 missense probably damaging 1.00
R6535:Cpne6 UTSW 14 55513665 missense probably benign 0.30
R6787:Cpne6 UTSW 14 55515244 missense probably damaging 1.00
R7318:Cpne6 UTSW 14 55514294 missense possibly damaging 0.95
R7453:Cpne6 UTSW 14 55512016 missense probably benign 0.08
Posted On2015-04-16