Incidental Mutation 'IGL03000:Cpne7'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpne7
Ensembl Gene ENSMUSG00000034796
Gene Namecopine VII
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03000
Quality Score
Chromosomal Location123117374-123135182 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 123126696 bp
Amino Acid Change Phenylalanine to Leucine at position 247 (F247L)
Ref Sequence ENSEMBL: ENSMUSP00000042159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037900] [ENSMUST00000127664]
Predicted Effect probably benign
Transcript: ENSMUST00000037900
AA Change: F247L

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000042159
Gene: ENSMUSG00000034796
AA Change: F247L

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

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,321,800 S445G probably benign Het
Abca5 C T 11: 110,317,814 V226I probably benign Het
Ankrd34c A T 9: 89,729,186 D367E probably benign Het
Bmp6 G T 13: 38,498,911 probably benign Het
Cacna2d2 T C 9: 107,524,198 probably null Het
Cblb T G 16: 52,204,542 D933E probably damaging Het
Ccny A G 18: 9,353,489 S95P probably benign Het
Cep192 A G 18: 67,852,044 I1658V probably damaging Het
Cntn6 A T 6: 104,804,386 T478S probably damaging Het
Csf1r A G 18: 61,109,652 E29G probably damaging Het
Dctn3 T A 4: 41,719,912 I65F possibly damaging Het
Dock1 A G 7: 134,789,240 E743G probably benign Het
Dus2 C A 8: 106,048,684 T281N probably damaging Het
Gbx1 G T 5: 24,504,926 T307K probably benign Het
Gtf2ird2 A T 5: 134,194,906 N93I probably benign Het
Heatr1 A G 13: 12,434,411 D1930G probably damaging Het
Hif3a T C 7: 17,048,639 I334V probably benign Het
Ints1 G T 5: 139,766,506 N756K probably benign Het
Kcnn2 T C 18: 45,560,568 F404L probably damaging Het
Kmt2c G A 5: 25,284,172 R4590W probably damaging Het
Limk1 A T 5: 134,670,501 V134E probably damaging Het
Mep1a A G 17: 43,474,990 V736A probably benign Het
Mex3a T A 3: 88,536,295 I226N probably damaging Het
Mgl2 A T 11: 70,134,200 K16* probably null Het
Mms22l G T 4: 24,581,161 V864L probably damaging Het
Mroh4 T A 15: 74,616,114 M320L probably benign Het
Mylk3 G A 8: 85,359,177 P243S probably damaging Het
Nbea A C 3: 56,004,627 D1246E possibly damaging Het
Ndnf A G 6: 65,703,315 T193A possibly damaging Het
Nfasc T C 1: 132,621,509 probably benign Het
Olfr421-ps1 A G 1: 174,151,560 T15A probably benign Het
Ptprq A T 10: 107,542,657 F2008I probably damaging Het
Rhag A G 17: 40,828,522 K116R probably benign Het
Rictor T A 15: 6,769,240 probably benign Het
Slc35f5 C A 1: 125,574,742 T277N probably damaging Het
Sorcs2 A G 5: 36,065,331 probably benign Het
Ssh2 T A 11: 77,421,206 probably benign Het
Togaram2 T C 17: 71,717,370 S830P probably benign Het
Trim30d T C 7: 104,473,269 T112A probably benign Het
Ttc34 T C 4: 154,865,431 V947A probably damaging Het
Ttn A G 2: 76,812,609 probably benign Het
Ubr5 A T 15: 38,024,852 V560D probably damaging Het
Ush2a A T 1: 188,549,856 E1856V possibly damaging Het
Zfp142 T C 1: 74,573,618 M457V probably benign Het
Zfp711 C T X: 112,624,858 Q137* probably null Het
Zkscan17 T C 11: 59,487,160 Y399C probably damaging Het
Zswim6 T G 13: 107,727,114 noncoding transcript Het
Zswim6 T A 13: 107,727,115 noncoding transcript Het
Other mutations in Cpne7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01919:Cpne7 APN 8 123125643 missense probably damaging 0.99
IGL02111:Cpne7 APN 8 123125653 intron probably benign
IGL02245:Cpne7 APN 8 123117618 missense probably damaging 1.00
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 On2016-08-02