Incidental Mutation 'IGL03347:Cpne1'
ID 419509
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 # IGL03347
Quality Score
Status
Chromosome 2
Chromosomal Location 155913765-155953847 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 155921096 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 65 (Y65N)
Ref Sequence ENSEMBL: ENSMUSP00000138888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079312] [ENSMUST00000109607] [ENSMUST00000109608] [ENSMUST00000132494] [ENSMUST00000142960] [ENSMUST00000154889] [ENSMUST00000153634] [ENSMUST00000136296] [ENSMUST00000147627] [ENSMUST00000133921] [ENSMUST00000184265] [ENSMUST00000184152] [ENSMUST00000184899] [ENSMUST00000183972] [ENSMUST00000183518]
AlphaFold Q8C166
Predicted Effect probably damaging
Transcript: ENSMUST00000079312
AA Change: Y65N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078292
Gene: ENSMUSG00000074643
AA Change: Y65N

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: Y65N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105236
Gene: ENSMUSG00000074643
AA Change: Y65N

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: Y65N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105237
Gene: ENSMUSG00000074643
AA Change: Y65N

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: Y65N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121299
Gene: ENSMUSG00000074643
AA Change: Y65N

DomainStartEndE-ValueType
C2 6 112 2.4e-11 SMART
C2 123 206 3e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000154889
AA Change: Y65N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118140
Gene: ENSMUSG00000074643
AA Change: Y65N

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000153634
AA Change: Y65N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115167
Gene: ENSMUSG00000074643
AA Change: Y65N

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: Y65N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122994
Gene: ENSMUSG00000074643
AA Change: Y65N

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: Y65N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116982
Gene: ENSMUSG00000074643
AA Change: Y65N

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 damaging
Transcript: ENSMUST00000133921
AA Change: Y65N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122644
Gene: ENSMUSG00000074643
AA Change: Y65N

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 noncoding transcript
Transcript: ENSMUST00000147956
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: 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: 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 damaging
Transcript: ENSMUST00000184265
AA Change: Y65N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138888
Gene: ENSMUSG00000074643
AA Change: Y65N

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000184152
AA Change: Y65N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139035
Gene: ENSMUSG00000074643
AA Change: Y65N

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
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: ENSMUST00000183972
Predicted Effect probably benign
Transcript: ENSMUST00000183733
Predicted Effect probably benign
Transcript: ENSMUST00000183518
SMART Domains Protein: ENSMUSP00000139010
Gene: ENSMUSG00000098950

DomainStartEndE-ValueType
Blast:RRM_2 4 40 4e-15 BLAST
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts8 T A 9: 30,870,534 (GRCm39) S670T possibly damaging Het
Adamts9 G T 6: 92,864,413 (GRCm39) Y185* probably null Het
Ahcyl A G 16: 45,974,852 (GRCm39) V175A probably benign Het
Arid3a T A 10: 79,787,113 (GRCm39) S512R possibly damaging Het
Atf6b T C 17: 34,872,214 (GRCm39) V524A probably damaging Het
Camk2d A G 3: 126,590,550 (GRCm39) T254A probably damaging Het
Camsap2 G T 1: 136,208,724 (GRCm39) Q923K possibly damaging Het
Car10 G A 11: 92,991,122 (GRCm39) probably benign Het
Ccdc39 A G 3: 33,891,992 (GRCm39) L160P probably damaging Het
Cdh20 A T 1: 110,065,973 (GRCm39) D749V possibly damaging Het
Cox6a2 A T 7: 127,804,900 (GRCm39) probably benign Het
Dnm1 T C 2: 32,243,199 (GRCm39) D8G probably benign Het
Emsy A G 7: 98,259,892 (GRCm39) S140P probably damaging Het
Fam13b G A 18: 34,595,104 (GRCm39) probably benign Het
Fbn2 T C 18: 58,146,737 (GRCm39) R2720G probably damaging Het
Fkbpl A G 17: 34,865,287 (GRCm39) probably benign Het
Gpr179 A G 11: 97,242,664 (GRCm39) L60P probably damaging Het
Iftap A G 2: 101,413,864 (GRCm39) probably null Het
Igsf10 A T 3: 59,239,321 (GRCm39) S287T possibly damaging Het
Kat2b G A 17: 53,931,379 (GRCm39) probably null Het
Kazald1 A G 19: 45,066,855 (GRCm39) D218G possibly damaging Het
Mbtd1 A G 11: 93,814,005 (GRCm39) E216G probably benign Het
Mtmr9 C A 14: 63,781,016 (GRCm39) V25L probably benign Het
Myo16 A G 8: 10,426,120 (GRCm39) probably null Het
Nfkbil1 A T 17: 35,439,559 (GRCm39) V318E probably damaging Het
Or2ag15 A T 7: 106,340,177 (GRCm39) probably benign Het
Or5g9 T C 2: 85,552,151 (GRCm39) V134A probably benign Het
Pidd1 A G 7: 141,019,081 (GRCm39) V800A probably damaging Het
Ptprs G A 17: 56,742,972 (GRCm39) S390L probably benign Het
Ralgapb G A 2: 158,307,880 (GRCm39) V729I possibly damaging Het
Sfrp5 T A 19: 42,187,207 (GRCm39) M288L probably benign Het
Slc26a1 C A 5: 108,821,676 (GRCm39) G71V probably damaging Het
Srcin1 A T 11: 97,416,170 (GRCm39) S1021T probably damaging Het
Supt6 A T 11: 78,123,011 (GRCm39) M124K possibly damaging Het
Thada A G 17: 84,705,633 (GRCm39) F1157S probably damaging Het
Tmcc2 A G 1: 132,285,390 (GRCm39) S424P probably damaging Het
Trim37 G A 11: 87,092,447 (GRCm39) R752Q possibly damaging Het
Unc80 A T 1: 66,734,625 (GRCm39) Q238L probably damaging Het
Vmn2r23 C A 6: 123,681,333 (GRCm39) H80Q probably benign Het
Wnt9a A T 11: 59,221,740 (GRCm39) T213S probably damaging Het
Zfp953 T A 13: 67,491,490 (GRCm39) Q154L probably benign 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
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 2016-08-02