Incidental Mutation 'IGL01064:Cpne6'
ID52643
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: 0.363) question?
Stock #IGL01064
Quality Score
Status
Chromosome14
Chromosomal Location55510445-55517431 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 55512730 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 106 (F106S)
Ref Sequence ENSEMBL: ENSMUSP00000130799 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074225] [ENSMUST00000076236] [ENSMUST00000163767] [ENSMUST00000165262] [ENSMUST00000165725] [ENSMUST00000171643] [ENSMUST00000226757] [ENSMUST00000228877]
Predicted Effect probably damaging
Transcript: ENSMUST00000074225
AA Change: F106S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000073847
Gene: ENSMUSG00000022212
AA Change: F106S

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: ENSMUST00000076236
SMART Domains Protein: ENSMUSP00000075587
Gene: ENSMUSG00000022211

DomainStartEndE-ValueType
low complexity region 138 151 N/A INTRINSIC
internal_repeat_1 203 297 7.56e-6 PROSPERO
Blast:LRR 333 362 5e-10 BLAST
Blast:LRR 423 446 1e-5 BLAST
low complexity region 447 462 N/A INTRINSIC
low complexity region 468 479 N/A INTRINSIC
internal_repeat_1 496 593 7.56e-6 PROSPERO
Pfam:CARMIL_C 778 1065 5.3e-76 PFAM
low complexity region 1068 1117 N/A INTRINSIC
low complexity region 1137 1146 N/A INTRINSIC
low complexity region 1204 1216 N/A INTRINSIC
low complexity region 1318 1329 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000163767
AA Change: F106S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000126493
Gene: ENSMUSG00000022212
AA Change: F106S

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: F106S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000132999
Gene: ENSMUSG00000022212
AA Change: F106S

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 damaging
Transcript: ENSMUST00000165725
AA Change: F106S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000130799
Gene: ENSMUSG00000022212
AA Change: F106S

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: F106S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000128555
Gene: ENSMUSG00000022212
AA Change: F106S

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: ENSMUST00000226388
Predicted Effect probably benign
Transcript: ENSMUST00000226757
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227312
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227563
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228760
Predicted Effect probably benign
Transcript: ENSMUST00000228877
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,483,855 T4137S probably benign Het
Abcb1a T C 5: 8,732,388 Y924H possibly damaging Het
Ash1l T G 3: 89,072,484 C2772G probably damaging Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cysltr1 A T X: 106,578,736 I48N probably damaging Het
Dsg1a A T 18: 20,340,206 I779F probably damaging Het
Fpr-rs4 T A 17: 18,022,517 L262H probably damaging Het
Gart G A 16: 91,623,007 R871C probably damaging Het
Get4 C T 5: 139,252,522 R20C probably damaging Het
Gm13030 G A 4: 138,873,558 probably benign Het
Gm17654 A T 14: 43,578,998 H49Q unknown Het
Gpnmb A G 6: 49,055,659 I506V probably benign Het
Ist1 T C 8: 109,682,611 I86V probably damaging Het
Kcnip1 C T 11: 33,633,192 D198N probably damaging Het
Kif5c A G 2: 49,694,816 I184V possibly damaging Het
Mink1 A T 11: 70,603,481 M236L probably benign Het
Muc5ac A T 7: 141,807,473 N1507I probably benign Het
Nrxn2 G T 19: 6,517,053 E1326D probably damaging Het
Olfr1329 A T 4: 118,916,894 M191K possibly damaging Het
Olfr1469 T C 19: 13,411,226 I219T probably benign Het
Olfr635 A T 7: 103,979,792 Y200F probably benign Het
Patj T C 4: 98,496,973 S326P possibly damaging Het
Pdha2 T C 3: 141,211,015 H244R possibly damaging Het
Pkhd1 C T 1: 20,534,530 probably benign Het
Ptk7 A T 17: 46,573,566 L746* probably null Het
Rad54b G A 4: 11,604,866 G438D probably damaging Het
Rbm27 T C 18: 42,319,814 V536A possibly damaging Het
Rundc3b T A 5: 8,569,553 M135L probably damaging Het
Sorcs2 T C 5: 36,065,352 Y353C probably damaging Het
Srcap T C 7: 127,559,892 probably benign Het
Sytl5 A G X: 9,905,595 H66R probably benign Het
Tlr7 T A X: 167,308,211 E93V probably damaging Het
Tmem156 A G 5: 65,079,984 L76S probably damaging Het
Tmem246 C T 4: 49,586,860 V103M possibly damaging Het
Tomm70a T C 16: 57,152,612 F571S probably damaging Het
Trmt10b A G 4: 45,314,347 Y261C possibly damaging Het
Other mutations in Cpne6
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02695:Cpne6 APN 14 55514580 missense probably damaging 1.00
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
R7707:Cpne6 UTSW 14 55516314 missense probably damaging 1.00
R7934:Cpne6 UTSW 14 55512609 missense possibly damaging 0.74
R7935:Cpne6 UTSW 14 55512609 missense possibly damaging 0.74
R7998:Cpne6 UTSW 14 55516294 missense probably damaging 0.98
R8083:Cpne6 UTSW 14 55513241 missense probably benign 0.42
R8141:Cpne6 UTSW 14 55512609 missense possibly damaging 0.74
R8144:Cpne6 UTSW 14 55512609 missense possibly damaging 0.74
R8145:Cpne6 UTSW 14 55514568 missense probably benign 0.10
R8190:Cpne6 UTSW 14 55512028 missense probably benign 0.03
R8919:Cpne6 UTSW 14 55512647 missense probably benign 0.00
Posted On2013-06-21