Incidental Mutation 'IGL01306:Cpne6'
ID 73444
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpne6
Ensembl Gene ENSMUSG00000022212
Gene Name copine VI
Synonyms neuronal copine
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.338) question?
Stock # IGL01306
Quality Score
Status
Chromosome 14
Chromosomal Location 55747902-55754888 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 55752706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 299 (I299F)
Ref Sequence ENSEMBL: ENSMUSP00000128555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062232] [ENSMUST00000074225] [ENSMUST00000111404] [ENSMUST00000163767] [ENSMUST00000165262] [ENSMUST00000165725] [ENSMUST00000171643] [ENSMUST00000178694]
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 probably damaging
Transcript: ENSMUST00000074225
AA Change: I299F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000073847
Gene: ENSMUSG00000022212
AA Change: I299F

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: I299F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126493
Gene: ENSMUSG00000022212
AA Change: I299F

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: I299F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000132999
Gene: ENSMUSG00000022212
AA Change: I299F

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 probably damaging
Transcript: ENSMUST00000171643
AA Change: I299F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128555
Gene: ENSMUSG00000022212
AA Change: I299F

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: ENSMUST00000170155
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169869
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228351
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
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12b G A 12: 70,215,822 (GRCm39) G88S probably damaging Het
Acot10 A G 15: 20,666,051 (GRCm39) F230S probably benign Het
Ago4 T C 4: 126,409,677 (GRCm39) probably null Het
Akap12 G T 10: 4,303,273 (GRCm39) A28S probably benign Het
Anks1 C A 17: 28,205,227 (GRCm39) T262K probably damaging Het
Arfgap3 A G 15: 83,197,710 (GRCm39) Y349H possibly damaging Het
Bltp1 T C 3: 37,059,162 (GRCm39) probably benign Het
Camsap2 T A 1: 136,225,528 (GRCm39) E199D probably benign Het
Ccdc13 A T 9: 121,656,429 (GRCm39) M128K probably benign Het
Ccdc38 T C 10: 93,405,797 (GRCm39) probably null Het
Cep95 G A 11: 106,704,641 (GRCm39) V499I probably benign Het
Cse1l T A 2: 166,769,428 (GRCm39) Y278* probably null Het
Dip2c A G 13: 9,625,179 (GRCm39) N558D possibly damaging Het
Edar A T 10: 58,464,460 (GRCm39) C60S probably damaging Het
Fat2 T C 11: 55,201,698 (GRCm39) N459D probably benign Het
Fbxw8 C T 5: 118,251,785 (GRCm39) V243M possibly damaging Het
Fem1b G A 9: 62,704,810 (GRCm39) A150V possibly damaging Het
Gal3st1 A G 11: 3,948,405 (GRCm39) Y204C probably damaging Het
Gm5422 A T 10: 31,125,432 (GRCm39) noncoding transcript Het
Grin2c T C 11: 115,147,020 (GRCm39) T392A probably benign Het
Itpk1 T C 12: 102,572,362 (GRCm39) E117G probably damaging Het
Kif12 G T 4: 63,084,121 (GRCm39) P627Q probably damaging Het
Krtap15-1 T A 16: 88,626,255 (GRCm39) F88L probably benign Het
Mlh1 T C 9: 111,081,980 (GRCm39) N248D possibly damaging Het
Or2i1 T C 17: 37,507,833 (GRCm39) N342S probably benign Het
Or4k15 A G 14: 50,364,039 (GRCm39) N2D probably benign Het
Or52z12 T C 7: 103,233,900 (GRCm39) Y224H probably damaging Het
Per2 T C 1: 91,376,555 (GRCm39) H106R probably damaging Het
Pfkl T A 10: 77,827,229 (GRCm39) T486S probably benign Het
Prkdc T C 16: 15,485,595 (GRCm39) V474A possibly damaging Het
Scamp4 C A 10: 80,445,256 (GRCm39) Q34K probably damaging Het
Serpinb3b A G 1: 107,082,395 (GRCm39) Y290H probably damaging Het
Sft2d2 G T 1: 165,011,564 (GRCm39) A110E probably benign Het
Siglecf T A 7: 43,001,377 (GRCm39) L115* probably null Het
Slc6a11 C T 6: 114,111,626 (GRCm39) T103M probably damaging Het
Slco1a1 T A 6: 141,892,313 (GRCm39) K18* probably null Het
Spata1 A T 3: 146,193,154 (GRCm39) Y112* probably null Het
Tbc1d32 G A 10: 56,056,620 (GRCm39) T440I probably benign Het
Vmn2r111 T A 17: 22,787,965 (GRCm39) E462V probably damaging Het
Wnt16 C T 6: 22,297,934 (GRCm39) R267C probably damaging Het
Xylt1 A C 7: 117,148,125 (GRCm39) S230R probably benign Het
Other mutations in Cpne6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01064:Cpne6 APN 14 55,750,187 (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
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
Posted On 2013-10-07