Incidental Mutation 'IGL02111:Cpne7'
ID280174
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpne7
Ensembl Gene ENSMUSG00000034796
Gene Namecopine VII
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02111
Quality Score
Status
Chromosome8
Chromosomal Location123117374-123135182 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) T to C at 123125653 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037900] [ENSMUST00000127664]
Predicted Effect probably benign
Transcript: ENSMUST00000037900
SMART Domains Protein: ENSMUSP00000042159
Gene: ENSMUSG00000034796

DomainStartEndE-ValueType
low complexity region 8 17 N/A INTRINSIC
C2 21 127 7.18e-8 SMART
C2 142 259 5.92e-9 SMART
VWA 304 510 7.2e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123191
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127431
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131659
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134235
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184815
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. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530077C05Rik T C 9: 22,424,179 I31T probably benign Het
Adgrg3 G A 8: 95,034,999 R130Q probably damaging Het
Adipor2 A T 6: 119,370,196 L42* probably null Het
Ankrd45 A G 1: 161,163,351 K259E probably damaging Het
Apoc3 T C 9: 46,234,474 K79R possibly damaging Het
Arhgap40 T C 2: 158,539,844 Y416H probably damaging Het
Armc5 A G 7: 128,244,083 T683A probably benign Het
Bora T C 14: 99,047,377 V21A probably damaging Het
Cacna1b C T 2: 24,606,991 S2189N probably damaging Het
Cct2 G A 10: 117,053,112 T57I probably damaging Het
Cd200r1 A T 16: 44,788,781 N34Y probably damaging Het
Cd300ld2 T A 11: 115,012,393 probably benign Het
Cntnap5a G A 1: 116,089,352 R225H probably benign Het
Cntnap5c A T 17: 58,102,108 D447V probably damaging Het
Dap3 G A 3: 88,929,418 T92I probably benign Het
Dnmbp A G 19: 43,867,555 L254P probably damaging Het
Egfem1 G A 3: 29,650,896 probably null Het
Fam120b T C 17: 15,402,585 L275P possibly damaging Het
Fam161a A T 11: 23,020,026 H68L probably benign Het
Fam193a A G 5: 34,410,657 E100G possibly damaging Het
Ftmt A T 18: 52,332,053 D147V possibly damaging Het
Gm10136 T C 19: 29,003,722 K41E probably benign Het
Gm10797 C T 10: 67,572,567 noncoding transcript Het
Hsf1 A G 15: 76,496,081 probably benign Het
Ipo8 A G 6: 148,799,780 V514A probably damaging Het
Itfg2 T C 6: 128,410,381 H422R probably benign Het
Lrp4 G T 2: 91,506,059 L1738F probably damaging Het
Mettl17 A G 14: 51,891,386 E371G probably damaging Het
Mfsd6 A T 1: 52,708,344 L454Q probably damaging Het
Myh10 A T 11: 68,790,112 E956V probably damaging Het
Ncoa1 A T 12: 4,274,944 M1K probably null Het
Olfr1163 T A 2: 88,071,227 N52Y probably benign Het
Olfr677 A G 7: 105,056,945 D233G probably benign Het
Olfr709-ps1 A C 7: 106,926,616 V281G probably damaging Het
Otop1 T A 5: 38,277,701 C89S probably benign Het
Pitrm1 G T 13: 6,573,145 R775L probably benign Het
Prpf19 A G 19: 10,905,094 T512A probably benign Het
Prpf4b T A 13: 34,883,961 S258T probably benign Het
Rhbdl2 T C 4: 123,822,837 Y196H probably damaging Het
Rnf187 T C 11: 58,937,180 D148G probably damaging Het
Sbds A G 5: 130,250,941 I74T probably damaging Het
Sec63 T C 10: 42,810,888 V468A probably damaging Het
Slc35b3 A T 13: 38,955,782 M23K probably damaging Het
Slc6a9 A T 4: 117,864,013 Y208F probably benign Het
Slfn8 A T 11: 83,004,498 L494Q probably damaging Het
Sorcs1 T G 19: 50,230,245 M600L probably benign Het
Supt7l T C 5: 31,515,678 probably null Het
Tecrl T A 5: 83,354,792 Q70L probably damaging Het
Tedc2 A T 17: 24,218,166 probably benign Het
Tespa1 A G 10: 130,355,484 D99G probably damaging Het
Tmem126b G T 7: 90,469,061 Q204K probably damaging Het
Tmem181c-ps A T 17: 6,620,367 noncoding transcript Het
Tmem184a G T 5: 139,813,101 T31K possibly damaging Het
Tmprss11e T A 5: 86,719,801 I137F possibly damaging Het
Tmprss13 C T 9: 45,336,105 T255I probably damaging Het
Top1mt G A 15: 75,665,706 probably benign Het
Treh C T 9: 44,682,961 T168I probably benign Het
Ttn A T 2: 76,767,328 I11420N probably benign Het
Zp2 T C 7: 120,132,418 K705E possibly damaging Het
Zw10 T C 9: 49,068,754 I395T probably damaging Het
Other mutations in Cpne7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01919:Cpne7 APN 8 123125643 missense probably damaging 0.99
IGL02245:Cpne7 APN 8 123117618 missense probably damaging 1.00
IGL03000:Cpne7 APN 8 123126696 missense probably benign 0.07
R0501:Cpne7 UTSW 8 123126255 missense possibly damaging 0.95
R0727:Cpne7 UTSW 8 123126286 missense probably damaging 0.98
R1750:Cpne7 UTSW 8 123134524 missense probably damaging 1.00
R1991:Cpne7 UTSW 8 123127437 missense possibly damaging 0.94
R2103:Cpne7 UTSW 8 123127437 missense possibly damaging 0.94
R2219:Cpne7 UTSW 8 123124438 missense probably benign 0.12
R2350:Cpne7 UTSW 8 123124469 missense probably damaging 1.00
R2513:Cpne7 UTSW 8 123117667 splice site probably null
R4657:Cpne7 UTSW 8 123134575 makesense probably null
R4961:Cpne7 UTSW 8 123133759 missense probably damaging 0.99
R6148:Cpne7 UTSW 8 123127432 missense probably benign 0.00
R7566:Cpne7 UTSW 8 123133813 missense probably damaging 1.00
R7712:Cpne7 UTSW 8 123124181 missense probably damaging 0.98
Posted On2015-04-16