Incidental Mutation 'R0735:Cpne1'
ID 68208
Institutional Source Beutler Lab
Gene Symbol Cpne1
Ensembl Gene ENSMUSG00000074643
Gene Name copine I
Synonyms 1810028N16Rik
MMRRC Submission 038916-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.400) question?
Stock # R0735 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 155913765-155953847 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 155920670 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079312] [ENSMUST00000079312] [ENSMUST00000109607] [ENSMUST00000109607] [ENSMUST00000109608] [ENSMUST00000109608] [ENSMUST00000132494] [ENSMUST00000133921] [ENSMUST00000133921] [ENSMUST00000147627] [ENSMUST00000142960] [ENSMUST00000142960] [ENSMUST00000154889] [ENSMUST00000136296] [ENSMUST00000153634] [ENSMUST00000183518] [ENSMUST00000184899] [ENSMUST00000184152] [ENSMUST00000184265] [ENSMUST00000183972]
AlphaFold Q8C166
Predicted Effect probably null
Transcript: ENSMUST00000079312
SMART Domains Protein: ENSMUSP00000078292
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
C2 137 242 8.76e-12 SMART
VWA 282 468 8.96e-2 SMART
Predicted Effect probably null
Transcript: ENSMUST00000079312
SMART Domains Protein: ENSMUSP00000078292
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
C2 137 242 8.76e-12 SMART
VWA 282 468 8.96e-2 SMART
Predicted Effect probably null
Transcript: ENSMUST00000109607
SMART Domains Protein: ENSMUSP00000105236
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
C2 137 242 8.76e-12 SMART
VWA 282 484 9.5e-15 SMART
Predicted Effect probably null
Transcript: ENSMUST00000109607
SMART Domains Protein: ENSMUSP00000105236
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
C2 137 242 8.76e-12 SMART
VWA 282 484 9.5e-15 SMART
Predicted Effect probably null
Transcript: ENSMUST00000109608
SMART Domains Protein: ENSMUSP00000105237
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
C2 137 242 8.76e-12 SMART
VWA 282 484 9.5e-15 SMART
Predicted Effect probably null
Transcript: ENSMUST00000109608
SMART Domains Protein: ENSMUSP00000105237
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
C2 137 242 8.76e-12 SMART
VWA 282 484 9.5e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126513
Predicted Effect probably benign
Transcript: ENSMUST00000127956
SMART Domains Protein: ENSMUSP00000114923
Gene: ENSMUSG00000098950

DomainStartEndE-ValueType
low complexity region 10 28 N/A INTRINSIC
low complexity region 73 172 N/A INTRINSIC
RRM 217 287 1.05e-1 SMART
RRM 343 415 2.73e-7 SMART
RRM 457 529 8.73e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132494
SMART Domains Protein: ENSMUSP00000139175
Gene: ENSMUSG00000098950

DomainStartEndE-ValueType
Pfam:RRM_6 5 70 1.5e-5 PFAM
low complexity region 98 116 N/A INTRINSIC
low complexity region 161 260 N/A INTRINSIC
RRM 305 375 1.05e-1 SMART
RRM 431 503 2.73e-7 SMART
RRM 545 617 8.73e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000133921
SMART Domains Protein: ENSMUSP00000122644
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
Pfam:C2 139 178 3.3e-3 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000133921
SMART Domains Protein: ENSMUSP00000122644
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
Pfam:C2 139 178 3.3e-3 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147627
SMART Domains Protein: ENSMUSP00000116982
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
C2 137 242 8.76e-12 SMART
Pfam:Copine 303 350 1.3e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142975
Predicted Effect probably null
Transcript: ENSMUST00000142960
SMART Domains Protein: ENSMUSP00000121299
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
C2 6 112 2.4e-11 SMART
C2 123 206 3e-2 SMART
Predicted Effect probably null
Transcript: ENSMUST00000142960
SMART Domains Protein: ENSMUSP00000121299
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
C2 6 112 2.4e-11 SMART
C2 123 206 3e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183353
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147956
Predicted Effect probably benign
Transcript: ENSMUST00000140109
SMART Domains Protein: ENSMUSP00000121998
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
Pfam:Copine 1 148 2.1e-50 PFAM
Pfam:vWA-TerF-like 5 111 2.5e-7 PFAM
low complexity region 167 185 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183733
Predicted Effect probably benign
Transcript: ENSMUST00000162612
SMART Domains Protein: ENSMUSP00000125190
Gene: ENSMUSG00000098950

DomainStartEndE-ValueType
SCOP:d1eg5a_ 3 82 1e-15 SMART
PDB:1P3W|A 3 86 2e-34 PDB
low complexity region 93 106 N/A INTRINSIC
Blast:RRM_2 124 161 1e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000159952
SMART Domains Protein: ENSMUSP00000124101
Gene: ENSMUSG00000098950

DomainStartEndE-ValueType
SCOP:d1eg5a_ 3 82 2e-15 SMART
PDB:1P3W|A 3 86 3e-34 PDB
low complexity region 93 106 N/A INTRINSIC
Blast:RRM_2 124 160 2e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000160165
SMART Domains Protein: ENSMUSP00000124858
Gene: ENSMUSG00000098950

DomainStartEndE-ValueType
PDB:1P3W|A 3 28 1e-6 PDB
low complexity region 36 50 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154889
SMART Domains Protein: ENSMUSP00000118140
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136296
SMART Domains Protein: ENSMUSP00000122994
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
C2 123 218 7.88e-5 SMART
Pfam:Copine 279 378 2.3e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153634
SMART Domains Protein: ENSMUSP00000115167
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
C2 123 218 7.88e-5 SMART
Pfam:Copine 279 325 4.1e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183518
SMART Domains Protein: ENSMUSP00000139010
Gene: ENSMUSG00000098950

DomainStartEndE-ValueType
Blast:RRM_2 4 40 4e-15 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184933
Predicted Effect probably benign
Transcript: ENSMUST00000184899
SMART Domains Protein: ENSMUSP00000139177
Gene: ENSMUSG00000098950

DomainStartEndE-ValueType
Blast:RRM_2 4 54 2e-25 BLAST
SCOP:d2u1a__ 9 68 6e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000184152
SMART Domains Protein: ENSMUSP00000139035
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000184265
SMART Domains Protein: ENSMUSP00000138888
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183972
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.7%
  • 10x: 96.7%
  • 20x: 91.8%
Validation Efficiency 95% (73/77)
MGI Phenotype FUNCTION: This gene encodes a protein that contains two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. Its activity is also upregulated in mouse embryos. This gene and the gene for RNA binding motif protein 12 overlap at map location 2 H2. Two alternatively spliced variants that encode the same isoform have been identified for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 T A 14: 29,711,669 (GRCm39) M405K probably benign Het
Adam10 G A 9: 70,655,533 (GRCm39) V334I possibly damaging Het
Adgra2 G T 8: 27,607,346 (GRCm39) G686C probably damaging Het
Akap11 A T 14: 78,747,518 (GRCm39) I1623N probably damaging Het
Astn1 A T 1: 158,299,959 (GRCm39) T100S possibly damaging Het
B3galt1 A C 2: 67,948,923 (GRCm39) I213L possibly damaging Het
B4galnt4 A G 7: 140,644,236 (GRCm39) K101E probably benign Het
Brd10 A T 19: 29,695,038 (GRCm39) I1552K possibly damaging Het
Camsap2 A G 1: 136,220,626 (GRCm39) S324P probably damaging Het
Chrnb4 A G 9: 54,951,084 (GRCm39) S60P probably damaging Het
Cubn G A 2: 13,496,500 (GRCm39) probably benign Het
Cul7 T A 17: 46,974,116 (GRCm39) L1467H probably damaging Het
Cxcl15 T C 5: 90,949,153 (GRCm39) M106T probably benign Het
Cyp2c23 A T 19: 44,005,249 (GRCm39) M140K probably damaging Het
Dgke A G 11: 88,950,901 (GRCm39) F104S probably benign Het
Dhx36 T A 3: 62,380,150 (GRCm39) M849L probably benign Het
Dnah7a C T 1: 53,583,670 (GRCm39) E1522K possibly damaging Het
Edil3 G T 13: 89,325,297 (GRCm39) V219F probably damaging Het
Egln1 A G 8: 125,675,234 (GRCm39) V187A possibly damaging Het
Fam193a T C 5: 34,596,722 (GRCm39) I455T possibly damaging Het
Fdft1 A T 14: 63,400,869 (GRCm39) I88N probably damaging Het
Fem1c G A 18: 46,638,227 (GRCm39) R592C probably benign Het
Frs2 T A 10: 116,910,487 (GRCm39) S292C probably damaging Het
Gpr107 T A 2: 31,062,006 (GRCm39) F145I probably benign Het
Gpr153 T A 4: 152,363,830 (GRCm39) C83* probably null Het
H2-Q7 T G 17: 35,659,162 (GRCm39) probably null Het
Hsp90b1 A T 10: 86,531,612 (GRCm39) probably benign Het
Kcnk1 C A 8: 126,752,028 (GRCm39) N211K probably damaging Het
Klb T C 5: 65,537,070 (GRCm39) V800A probably benign Het
Lat2 T C 5: 134,635,637 (GRCm39) Y59C probably damaging Het
Mlkl A T 8: 112,054,433 (GRCm39) probably benign Het
Mroh2a G A 1: 88,171,672 (GRCm39) R770Q probably damaging Het
Mtbp T A 15: 55,426,338 (GRCm39) C93* probably null Het
Myo7a A G 7: 97,730,387 (GRCm39) probably benign Het
Myt1 G A 2: 181,449,180 (GRCm39) probably benign Het
Ogfrl1 T C 1: 23,414,835 (GRCm39) Q224R possibly damaging Het
Or10j2 A G 1: 173,098,569 (GRCm39) T276A probably benign Het
Or56b2 A T 7: 104,338,026 (GRCm39) H268L probably damaging Het
Osbpl2 A G 2: 179,792,083 (GRCm39) probably benign Het
Pira13 T C 7: 3,824,781 (GRCm39) T533A possibly damaging Het
Plb1 C T 5: 32,442,264 (GRCm39) T252M possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rbsn T C 6: 92,166,674 (GRCm39) T657A probably benign Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Rps6kb2 C A 19: 4,207,882 (GRCm39) S348I probably benign Het
Rsrp1 C T 4: 134,651,568 (GRCm39) R111W unknown Het
Ryr3 T C 2: 112,563,327 (GRCm39) T2933A probably benign Het
Scara5 A G 14: 65,968,468 (GRCm39) D247G possibly damaging Het
Slc7a11 C T 3: 50,378,545 (GRCm39) S231N probably benign Het
Sod2 A T 17: 13,229,451 (GRCm39) N91Y probably damaging Het
Spesp1 A T 9: 62,179,967 (GRCm39) S314T probably benign Het
St3gal1 C A 15: 66,985,536 (GRCm39) M39I probably benign Het
Stat6 A T 10: 127,494,110 (GRCm39) I646F probably damaging Het
Tdrd1 A T 19: 56,854,410 (GRCm39) K1119* probably null Het
Thbs2 A G 17: 14,900,077 (GRCm39) I600T probably benign Het
Tor1a A G 2: 30,853,850 (GRCm39) V160A probably damaging Het
Trdmt1 T G 2: 13,528,249 (GRCm39) D104A probably benign Het
Trim58 T C 11: 58,542,219 (GRCm39) V393A probably benign Het
Trip4 C T 9: 65,792,200 (GRCm39) probably benign Het
Trip6 T C 5: 137,309,083 (GRCm39) E341G probably benign Het
Ttn T A 2: 76,545,539 (GRCm39) I32595F probably damaging Het
Ubr4 T A 4: 139,155,339 (GRCm39) probably null Het
Ush2a G A 1: 188,596,890 (GRCm39) V3877I probably benign Het
Vmn1r29 G T 6: 58,284,717 (GRCm39) G146C probably damaging Het
Vmn2r53 A G 7: 12,315,707 (GRCm39) V704A probably benign Het
Vmn2r7 C T 3: 64,623,788 (GRCm39) M268I probably benign Het
Wnt7b G A 15: 85,421,696 (GRCm39) T248M probably damaging Het
Xab2 G A 8: 3,663,649 (GRCm39) P394S possibly damaging Het
Zfp663 A G 2: 165,200,995 (GRCm39) V13A probably damaging Het
Other mutations in Cpne1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02118:Cpne1 APN 2 155,919,563 (GRCm39) missense possibly damaging 0.90
IGL02291:Cpne1 APN 2 155,920,340 (GRCm39) missense probably damaging 1.00
IGL02719:Cpne1 APN 2 155,920,137 (GRCm39) missense probably damaging 1.00
IGL03011:Cpne1 APN 2 155,919,917 (GRCm39) missense probably damaging 0.99
IGL03347:Cpne1 APN 2 155,921,096 (GRCm39) missense probably damaging 1.00
johannesburg UTSW 2 155,919,561 (GRCm39) missense probably damaging 1.00
FR4304:Cpne1 UTSW 2 155,913,945 (GRCm39) frame shift probably null
FR4449:Cpne1 UTSW 2 155,915,422 (GRCm39) intron probably benign
FR4976:Cpne1 UTSW 2 155,913,945 (GRCm39) frame shift probably null
R0496:Cpne1 UTSW 2 155,921,339 (GRCm39) missense probably damaging 0.99
R0792:Cpne1 UTSW 2 155,919,339 (GRCm39) missense probably benign 0.00
R1874:Cpne1 UTSW 2 155,920,302 (GRCm39) missense probably damaging 0.99
R2015:Cpne1 UTSW 2 155,920,308 (GRCm39) missense probably damaging 1.00
R2518:Cpne1 UTSW 2 155,915,891 (GRCm39) missense probably damaging 0.99
R3000:Cpne1 UTSW 2 155,915,342 (GRCm39) makesense probably null
R3875:Cpne1 UTSW 2 155,918,202 (GRCm39) missense probably damaging 1.00
R5021:Cpne1 UTSW 2 155,940,193 (GRCm39) intron probably benign
R5385:Cpne1 UTSW 2 155,916,284 (GRCm39) missense probably damaging 0.99
R5654:Cpne1 UTSW 2 155,919,561 (GRCm39) missense probably damaging 1.00
R5959:Cpne1 UTSW 2 155,920,143 (GRCm39) missense probably benign 0.00
R6775:Cpne1 UTSW 2 155,920,340 (GRCm39) missense probably damaging 1.00
R7049:Cpne1 UTSW 2 155,920,727 (GRCm39) missense probably damaging 0.97
R7488:Cpne1 UTSW 2 155,919,857 (GRCm39) missense probably benign 0.00
R8212:Cpne1 UTSW 2 155,920,134 (GRCm39) missense probably damaging 0.96
R8332:Cpne1 UTSW 2 155,920,317 (GRCm39) missense probably benign 0.00
R8870:Cpne1 UTSW 2 155,920,873 (GRCm39) missense probably benign 0.30
R8921:Cpne1 UTSW 2 155,913,965 (GRCm39) missense probably benign 0.20
R9094:Cpne1 UTSW 2 155,921,080 (GRCm39) missense probably damaging 0.99
R9095:Cpne1 UTSW 2 155,918,210 (GRCm39) critical splice acceptor site probably null
R9311:Cpne1 UTSW 2 155,919,723 (GRCm39) missense probably damaging 0.99
R9380:Cpne1 UTSW 2 155,920,721 (GRCm39) missense probably benign 0.01
RF034:Cpne1 UTSW 2 155,915,430 (GRCm39) intron probably benign
RF037:Cpne1 UTSW 2 155,915,430 (GRCm39) intron probably benign
RF043:Cpne1 UTSW 2 155,915,430 (GRCm39) intron probably benign
Z1176:Cpne1 UTSW 2 155,919,564 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CGATCCTTGTCAGGAAACTGCTCAC -3'
(R):5'- TATCCAGCCAGACGCTGACCTTAC -3'

Sequencing Primer
(F):5'- TCAGGAAACTGCTCACCTGAATG -3'
(R):5'- ACCCTTGATGTTGAAGCCTG -3'
Posted On 2013-09-03