Incidental Mutation 'R2513:Cpne7'
ID 253633
Institutional Source Beutler Lab
Gene Symbol Cpne7
Ensembl Gene ENSMUSG00000034796
Gene Name copine VII
Synonyms
MMRRC Submission 040419-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2513 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 123844113-123861921 bp(+) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) A to C at 123844406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000042159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037900] [ENSMUST00000127664]
AlphaFold Q0VE82
Predicted Effect probably null
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 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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,383,809 (GRCm39) T719A possibly damaging Het
Abcc1 A G 16: 14,290,873 (GRCm39) probably null Het
Aftph C T 11: 20,658,676 (GRCm39) probably null Het
Als2 C A 1: 59,254,276 (GRCm39) K360N probably benign Het
Atg2a T A 19: 6,308,076 (GRCm39) probably null Het
Axl T C 7: 25,486,941 (GRCm39) D22G probably benign Het
Baiap2 G A 11: 119,890,052 (GRCm39) A438T probably benign Het
Bean1 G C 8: 104,908,643 (GRCm39) A7P probably benign Het
Birc6 C G 17: 74,954,724 (GRCm39) P3431R probably damaging Het
Camk1d A G 2: 5,719,047 (GRCm39) M1T probably null Het
Carmil3 T C 14: 55,741,295 (GRCm39) Y1027H probably damaging Het
Ccdc6 G A 10: 70,023,658 (GRCm39) probably benign Het
Cemip C A 7: 83,591,233 (GRCm39) V1280L probably benign Het
Cfap58 C A 19: 47,950,981 (GRCm39) N447K probably benign Het
Chd3 A G 11: 69,251,471 (GRCm39) L520P probably damaging Het
Col1a2 T A 6: 4,531,223 (GRCm39) probably null Het
Ctla4 T C 1: 60,951,723 (GRCm39) V84A probably damaging Het
Dap3 A G 3: 88,835,565 (GRCm39) V263A probably benign Het
Dhx57 T A 17: 80,549,378 (GRCm39) probably null Het
Dlg5 C A 14: 24,214,593 (GRCm39) K663N probably damaging Het
Dsg3 C A 18: 20,656,719 (GRCm39) F196L possibly damaging Het
Eif2ak4 C A 2: 118,257,064 (GRCm39) D402E probably damaging Het
Fance T C 17: 28,537,068 (GRCm39) V24A probably benign Het
Fasn A T 11: 120,705,574 (GRCm39) L1149Q probably damaging Het
Fcgbpl1 C G 7: 27,831,060 (GRCm39) S91C probably damaging Het
Flg T A 3: 93,187,093 (GRCm39) S182T possibly damaging Het
Gm128 T A 3: 95,147,293 (GRCm39) S334C possibly damaging Het
Gm3727 A C 14: 7,264,561 (GRCm38) H31Q probably damaging Het
Gm4841 T G 18: 60,403,977 (GRCm39) T39P probably damaging Het
Golgb1 G T 16: 36,735,513 (GRCm39) V1587L possibly damaging Het
Golm1 G A 13: 59,790,072 (GRCm39) P243S probably benign Het
Gstcd C A 3: 132,788,081 (GRCm39) A206S possibly damaging Het
Gstcd C A 3: 132,788,082 (GRCm39) K205N possibly damaging Het
Gtf3c1 A G 7: 125,280,345 (GRCm39) V355A probably benign Het
Hhatl T C 9: 121,618,236 (GRCm39) D173G probably benign Het
Kcnu1 T A 8: 26,395,994 (GRCm39) C660S probably benign Het
Kctd8 T C 5: 69,267,988 (GRCm39) D374G probably benign Het
Kif21a T C 15: 90,878,594 (GRCm39) I229V possibly damaging Het
L3mbtl1 A T 2: 162,809,505 (GRCm39) I702F probably benign Het
Lce1d T C 3: 92,593,066 (GRCm39) probably benign Het
Lrig1 C T 6: 94,594,347 (GRCm39) probably null Het
Lrp12 A T 15: 39,739,507 (GRCm39) D563E probably damaging Het
Lrp2 C T 2: 69,336,718 (GRCm39) probably null Het
Map3k5 G A 10: 19,970,201 (GRCm39) V703I possibly damaging Het
Mecr A G 4: 131,581,076 (GRCm39) R110G probably benign Het
Mtrr T A 13: 68,715,092 (GRCm39) K445* probably null Het
Nanos1 T A 19: 60,744,990 (GRCm39) L96Q probably benign Het
Or13a24 T G 7: 140,154,069 (GRCm39) M1R probably null Het
Or51t4 T A 7: 102,598,700 (GRCm39) F333I probably benign Het
Or6c214 T A 10: 129,591,021 (GRCm39) L99F probably damaging Het
Otog T C 7: 45,955,014 (GRCm39) probably null Het
Pcdhb3 G T 18: 37,434,294 (GRCm39) V87F probably benign Het
Pcdhb3 T A 18: 37,434,292 (GRCm39) L86* probably null Het
Pcdhb3 A T 18: 37,434,293 (GRCm39) L86F probably damaging Het
Pdgfd A G 9: 6,359,894 (GRCm39) K322E probably damaging Het
Picalm T C 7: 89,846,217 (GRCm39) S648P probably damaging Het
Pigr T C 1: 130,774,357 (GRCm39) S446P possibly damaging Het
Pik3cb A C 9: 98,943,895 (GRCm39) L636W probably damaging Het
Pla2g2f A T 4: 138,481,473 (GRCm39) L92Q probably damaging Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Prkar2b C T 12: 32,025,928 (GRCm39) V191I possibly damaging Het
Prune1 C A 3: 95,165,430 (GRCm39) A281S probably benign Het
Ptges3l A T 11: 101,314,868 (GRCm39) C42S possibly damaging Het
Reg3b A T 6: 78,348,802 (GRCm39) I33L probably benign Het
Rel A G 11: 23,695,823 (GRCm39) I188T probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Ripor1 G T 8: 106,344,254 (GRCm39) V463L probably benign Het
Rrm1 T A 7: 102,109,896 (GRCm39) D510E probably damaging Het
Setd7 A G 3: 51,440,436 (GRCm39) S202P probably damaging Het
Shank3 T A 15: 89,432,889 (GRCm39) D1211E probably benign Het
Slc30a1 A T 1: 191,639,674 (GRCm39) T186S possibly damaging Het
Slc4a4 G A 5: 89,304,257 (GRCm39) V523I probably benign Het
Slc9a2 T A 1: 40,781,768 (GRCm39) probably null Het
Smg6 A G 11: 74,820,502 (GRCm39) T258A probably damaging Het
Sptlc1 C T 13: 53,491,676 (GRCm39) D408N possibly damaging Het
Tasor2 G T 13: 3,632,150 (GRCm39) L784I possibly damaging Het
Tbl3 T C 17: 24,923,524 (GRCm39) probably null Het
Tdo2 T C 3: 81,876,812 (GRCm39) D139G possibly damaging Het
Ticam1 T A 17: 56,578,612 (GRCm39) H161L possibly damaging Het
Tnfaip3 T A 10: 18,881,407 (GRCm39) D293V probably benign Het
Trim72 G A 7: 127,603,878 (GRCm39) V75M possibly damaging Het
Trip11 T A 12: 101,803,986 (GRCm39) N1632I possibly damaging Het
Tspan18 A T 2: 93,050,440 (GRCm39) M61K possibly damaging Het
Tuba8 A T 6: 121,202,932 (GRCm39) E415V probably damaging Het
Ung A G 5: 114,275,253 (GRCm39) H214R probably benign Het
Uqcrc1 T C 9: 108,765,836 (GRCm39) L17P probably damaging Het
Usp24 A G 4: 106,236,602 (GRCm39) probably null Het
Vps39 A C 2: 120,169,268 (GRCm39) Y245D probably damaging Het
Whrn T A 4: 63,353,649 (GRCm39) T373S probably benign Het
Zc2hc1a C T 3: 7,581,596 (GRCm39) probably null Het
Other mutations in Cpne7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01919:Cpne7 APN 8 123,852,382 (GRCm39) missense probably damaging 0.99
IGL02111:Cpne7 APN 8 123,852,392 (GRCm39) intron probably benign
IGL02245:Cpne7 APN 8 123,844,357 (GRCm39) missense probably damaging 1.00
IGL03000:Cpne7 APN 8 123,853,435 (GRCm39) missense probably benign 0.07
R0501:Cpne7 UTSW 8 123,852,994 (GRCm39) missense possibly damaging 0.95
R0727:Cpne7 UTSW 8 123,853,025 (GRCm39) missense probably damaging 0.98
R1750:Cpne7 UTSW 8 123,861,263 (GRCm39) missense probably damaging 1.00
R1991:Cpne7 UTSW 8 123,854,176 (GRCm39) missense possibly damaging 0.94
R2103:Cpne7 UTSW 8 123,854,176 (GRCm39) missense possibly damaging 0.94
R2219:Cpne7 UTSW 8 123,851,177 (GRCm39) missense probably benign 0.12
R2350:Cpne7 UTSW 8 123,851,208 (GRCm39) missense probably damaging 1.00
R4657:Cpne7 UTSW 8 123,861,314 (GRCm39) makesense probably null
R4961:Cpne7 UTSW 8 123,860,498 (GRCm39) missense probably damaging 0.99
R6148:Cpne7 UTSW 8 123,854,171 (GRCm39) missense probably benign 0.00
R7566:Cpne7 UTSW 8 123,860,552 (GRCm39) missense probably damaging 1.00
R7712:Cpne7 UTSW 8 123,850,920 (GRCm39) missense probably damaging 0.98
R7984:Cpne7 UTSW 8 123,846,461 (GRCm39) missense possibly damaging 0.91
R8185:Cpne7 UTSW 8 123,854,168 (GRCm39) missense probably benign 0.04
R8978:Cpne7 UTSW 8 123,861,177 (GRCm39) critical splice acceptor site probably null
R9031:Cpne7 UTSW 8 123,856,951 (GRCm39) missense probably damaging 1.00
R9043:Cpne7 UTSW 8 123,856,951 (GRCm39) missense probably damaging 1.00
R9044:Cpne7 UTSW 8 123,856,951 (GRCm39) missense probably damaging 1.00
R9079:Cpne7 UTSW 8 123,856,951 (GRCm39) missense probably damaging 1.00
R9080:Cpne7 UTSW 8 123,856,951 (GRCm39) missense probably damaging 1.00
R9083:Cpne7 UTSW 8 123,856,951 (GRCm39) missense probably damaging 1.00
R9084:Cpne7 UTSW 8 123,856,951 (GRCm39) missense probably damaging 1.00
R9443:Cpne7 UTSW 8 123,853,411 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GATCGAAACCCCTCTTCAAGG -3'
(R):5'- AGCACTTTTCCACCGAGGTTC -3'

Sequencing Primer
(F):5'- TCTTCAAGGGGCGGCTCTC -3'
(R):5'- GAGGTTCCTTTCTGCCGCTG -3'
Posted On 2014-12-04