Incidental Mutation 'IGL02291:Cpne1'
ID 290330
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpne1
Ensembl Gene ENSMUSG00000074643
Gene Name copine I
Synonyms 1810028N16Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.400) question?
Stock # IGL02291
Quality Score
Status
Chromosome 2
Chromosomal Location 155913765-155953847 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 155920340 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 179 (V179A)
Ref Sequence ENSEMBL: ENSMUSP00000116982 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079312] [ENSMUST00000109607] [ENSMUST00000109608] [ENSMUST00000132494] [ENSMUST00000142960] [ENSMUST00000153634] [ENSMUST00000136296] [ENSMUST00000147627] [ENSMUST00000154889] [ENSMUST00000133921] [ENSMUST00000184899] [ENSMUST00000184152] [ENSMUST00000183518] [ENSMUST00000183972] [ENSMUST00000184265]
AlphaFold Q8C166
Predicted Effect probably damaging
Transcript: ENSMUST00000079312
AA Change: V179A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000078292
Gene: ENSMUSG00000074643
AA Change: V179A

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 damaging
Transcript: ENSMUST00000109607
AA Change: V179A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105236
Gene: ENSMUSG00000074643
AA Change: V179A

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 damaging
Transcript: ENSMUST00000109608
AA Change: V179A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105237
Gene: ENSMUSG00000074643
AA Change: V179A

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 damaging
Transcript: ENSMUST00000142960
AA Change: V179A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121299
Gene: ENSMUSG00000074643
AA Change: V179A

DomainStartEndE-ValueType
C2 6 112 2.4e-11 SMART
C2 123 206 3e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000153634
AA Change: V155A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115167
Gene: ENSMUSG00000074643
AA Change: V155A

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 damaging
Transcript: ENSMUST00000136296
AA Change: V155A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122994
Gene: ENSMUSG00000074643
AA Change: V155A

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 damaging
Transcript: ENSMUST00000147627
AA Change: V179A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116982
Gene: ENSMUSG00000074643
AA Change: V179A

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 noncoding transcript
Transcript: ENSMUST00000147956
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: 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: 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: 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: 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: 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 noncoding transcript
Transcript: ENSMUST00000183353
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: ENSMUST00000183518
SMART Domains Protein: ENSMUSP00000139010
Gene: ENSMUSG00000098950

DomainStartEndE-ValueType
Blast:RRM_2 4 40 4e-15 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000183733
Predicted Effect probably benign
Transcript: ENSMUST00000183972
Predicted Effect probably benign
Transcript: ENSMUST00000184265
SMART Domains Protein: ENSMUSP00000138888
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
Coding Region Coverage
Validation Efficiency
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap10 T A 8: 78,109,344 (GRCm39) probably benign Het
Cfap161 C T 7: 83,440,847 (GRCm39) G135D probably benign Het
Cpsf1 A T 15: 76,487,021 (GRCm39) I219N probably damaging Het
Creb3l4 T G 3: 90,149,290 (GRCm39) R139S probably benign Het
Fer1l4 T C 2: 155,861,458 (GRCm39) K1929E probably damaging Het
Gm5431 A G 11: 48,779,791 (GRCm39) L655P probably damaging Het
Igsf3 T G 3: 101,346,845 (GRCm39) H613Q probably damaging Het
Kcnab1 T C 3: 65,264,503 (GRCm39) Y251H possibly damaging Het
Kmt2d T C 15: 98,763,373 (GRCm39) probably benign Het
Krt17 A T 11: 100,147,319 (GRCm39) V404E probably benign Het
Lipo2 A G 19: 33,723,192 (GRCm39) I199T possibly damaging Het
Mks1 T A 11: 87,750,493 (GRCm39) probably benign Het
Nlrp1a A T 11: 71,013,415 (GRCm39) probably null Het
Nup210 T C 6: 91,078,250 (GRCm39) D100G probably damaging Het
Or13a21 A T 7: 139,999,200 (GRCm39) L162Q probably damaging Het
Or1o11 G A 17: 37,757,176 (GRCm39) V255I possibly damaging Het
Or2y1g T A 11: 49,171,812 (GRCm39) I279N probably damaging Het
Or7h8 T C 9: 20,124,098 (GRCm39) I151T probably benign Het
Psmd5 A G 2: 34,747,811 (GRCm39) V282A probably benign Het
Rasal3 A T 17: 32,612,711 (GRCm39) probably benign Het
Rnf10 T C 5: 115,398,255 (GRCm39) N93D probably damaging Het
Semp2l2a T A 8: 13,887,704 (GRCm39) N129I probably benign Het
Slc7a9 G A 7: 35,156,439 (GRCm39) G294R probably damaging Het
Taf7 C T 18: 37,776,415 (GRCm39) G51R possibly damaging Het
Tas2r126 G A 6: 42,412,221 (GRCm39) M251I probably benign Het
Trim33 T C 3: 103,234,181 (GRCm39) F473S probably damaging Het
Vmn1r127 A G 7: 21,052,999 (GRCm39) L263P possibly damaging Het
Vmn1r234 G A 17: 21,449,193 (GRCm39) V36I probably benign Het
Vmn2r84 T A 10: 130,226,617 (GRCm39) H407L probably damaging Het
Other mutations in Cpne1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02118:Cpne1 APN 2 155,919,563 (GRCm39) missense possibly damaging 0.90
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
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
Posted On 2015-04-16