Incidental Mutation 'R5021:Cpne1'
ID 389179
Institutional Source Beutler Lab
Gene Symbol Cpne1
Ensembl Gene ENSMUSG00000074643
Gene Name copine I
Synonyms 1810028N16Rik
MMRRC Submission 042612-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.400) question?
Stock # R5021 (G1)
Quality Score 154
Status Not validated
Chromosome 2
Chromosomal Location 155913765-155953847 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 155940193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059647] [ENSMUST00000079312] [ENSMUST00000109604] [ENSMUST00000109607] [ENSMUST00000109608] [ENSMUST00000132494] [ENSMUST00000128499] [ENSMUST00000131377] [ENSMUST00000138068] [ENSMUST00000154889] [ENSMUST00000133921] [ENSMUST00000142960] [ENSMUST00000147627] [ENSMUST00000153634] [ENSMUST00000136296] [ENSMUST00000183518] [ENSMUST00000184899] [ENSMUST00000184152] [ENSMUST00000184265] [ENSMUST00000183972]
AlphaFold Q8C166
Predicted Effect silent
Transcript: ENSMUST00000059647
SMART Domains Protein: ENSMUSP00000050461
Gene: ENSMUSG00000089824

DomainStartEndE-ValueType
Pfam:RRM_6 5 70 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
low complexity region 655 767 N/A INTRINSIC
low complexity region 781 812 N/A INTRINSIC
low complexity region 866 908 N/A INTRINSIC
RRM 917 990 1.03e-7 SMART
Predicted Effect probably benign
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 silent
Transcript: ENSMUST00000109604
SMART Domains Protein: ENSMUSP00000105233
Gene: ENSMUSG00000089824

DomainStartEndE-ValueType
Pfam:RRM_6 5 70 1.1e-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
low complexity region 655 767 N/A INTRINSIC
low complexity region 781 812 N/A INTRINSIC
low complexity region 866 908 N/A INTRINSIC
RRM 917 990 1.03e-7 SMART
Predicted Effect probably benign
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 benign
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 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 silent
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 silent
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 silent
Transcript: ENSMUST00000128499
SMART Domains Protein: ENSMUSP00000118067
Gene: ENSMUSG00000089824

DomainStartEndE-ValueType
PDB:2DB1|A 2 86 6e-8 PDB
Blast:RRM_2 4 72 1e-30 BLAST
low complexity region 98 116 N/A INTRINSIC
Predicted Effect silent
Transcript: ENSMUST00000131377
SMART Domains Protein: ENSMUSP00000120731
Gene: ENSMUSG00000089824

DomainStartEndE-ValueType
PDB:2DB1|A 2 86 1e-7 PDB
Blast:RRM_2 4 72 4e-29 BLAST
low complexity region 98 116 N/A INTRINSIC
low complexity region 161 260 N/A INTRINSIC
Predicted Effect silent
Transcript: ENSMUST00000138068
SMART Domains Protein: ENSMUSP00000119519
Gene: ENSMUSG00000089824

DomainStartEndE-ValueType
PDB:2DB1|A 2 86 5e-8 PDB
Blast:RRM_2 4 72 1e-30 BLAST
low complexity region 98 116 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: 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 noncoding transcript
Transcript: ENSMUST00000142975
Predicted Effect probably benign
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 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 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: 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 silent
Transcript: ENSMUST00000183518
SMART Domains Protein: ENSMUSP00000139010
Gene: ENSMUSG00000098950

DomainStartEndE-ValueType
Blast:RRM_2 4 40 4e-15 BLAST
Predicted Effect silent
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 silent
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: 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: 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: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 89.8%
Validation Efficiency 95% (39/41)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano5 A T 7: 51,205,933 (GRCm39) T242S probably benign Het
B3gnt4 G C 5: 123,649,010 (GRCm39) R125P probably damaging Het
Blvrb A C 7: 27,147,543 (GRCm39) M1L probably benign Het
Cep112 T A 11: 108,361,154 (GRCm39) H169Q possibly damaging Het
Clcn1 A T 6: 42,287,922 (GRCm39) K718* probably null Het
Clhc1 A G 11: 29,510,627 (GRCm39) N226S probably benign Het
Cspg4 G A 9: 56,805,014 (GRCm39) V1942I probably benign Het
Decr2 A T 17: 26,301,980 (GRCm39) L250Q probably damaging Het
Depdc5 A G 5: 33,136,758 (GRCm39) T1343A probably damaging Het
Eed A T 7: 89,621,513 (GRCm39) L45M probably damaging Het
Ep300 T A 15: 81,524,224 (GRCm39) S1351T unknown Het
Fam184b T A 5: 45,730,604 (GRCm39) Q476L probably benign Het
Gm10722 A C 9: 3,001,041 (GRCm39) Y39S probably benign Het
Herc1 A T 9: 66,377,608 (GRCm39) K3458M possibly damaging Het
Ift122 A G 6: 115,841,333 (GRCm39) D39G probably benign Het
Igf2bp1 A G 11: 95,864,832 (GRCm39) Y206H probably damaging Het
Ighv1-19 T C 12: 114,672,686 (GRCm39) I6V probably benign Het
Itm2c T C 1: 85,833,059 (GRCm39) I131T probably damaging Het
Kcnd3 A T 3: 105,566,070 (GRCm39) D417V probably damaging Het
Klf4 T C 4: 55,530,970 (GRCm39) E38G probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lct T C 1: 128,228,302 (GRCm39) M1064V probably benign Het
Map4 C T 9: 109,867,157 (GRCm39) Q265* probably null Het
Mcf2l T G 8: 13,061,808 (GRCm39) V893G probably damaging Het
Mlst8 C T 17: 24,696,193 (GRCm39) D179N possibly damaging Het
Mup6 T A 4: 59,964,352 (GRCm39) N18K probably damaging Het
Nbeal2 G A 9: 110,466,531 (GRCm39) R764W probably damaging Het
Ncoa6 A T 2: 155,248,869 (GRCm39) S1478R probably benign Het
Pcdhga1 C A 18: 37,796,876 (GRCm39) R627S probably damaging Het
Sacm1l A G 9: 123,411,393 (GRCm39) D394G probably damaging Het
Schip1 A G 3: 68,402,585 (GRCm39) T221A probably benign Het
Slc35c1 A G 2: 92,289,366 (GRCm39) Y47H possibly damaging Het
Tspan32 A G 7: 142,568,715 (GRCm39) D70G probably damaging Het
Vmn2r68 T C 7: 84,882,942 (GRCm39) Y270C possibly damaging Het
Zfp777 A G 6: 48,019,061 (GRCm39) V291A 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
R0735:Cpne1 UTSW 2 155,920,670 (GRCm39) critical splice donor site probably null
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
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
Posted On 2016-06-06