Incidental Mutation 'IGL01871:Cpne4'
ID 178720
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpne4
Ensembl Gene ENSMUSG00000032564
Gene Name copine IV
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock # IGL01871
Quality Score
Status
Chromosome 9
Chromosomal Location 104547286-105034544 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 104925757 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 200 (M200R)
Ref Sequence ENSEMBL: ENSMUSP00000076432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057742] [ENSMUST00000077190] [ENSMUST00000213120] [ENSMUST00000213452]
AlphaFold Q8BLR2
Predicted Effect probably benign
Transcript: ENSMUST00000057742
AA Change: M200R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000049663
Gene: ENSMUSG00000032564
AA Change: M200R

DomainStartEndE-ValueType
C2 24 130 4.29e-6 SMART
C2 144 261 4.22e-5 SMART
low complexity region 269 279 N/A INTRINSIC
VWA 305 507 2.61e-12 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000077190
AA Change: M200R

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000076432
Gene: ENSMUSG00000032564
AA Change: M200R

DomainStartEndE-ValueType
C2 24 130 4.29e-6 SMART
C2 144 275 1.94e1 SMART
VWA 223 425 9.73e-12 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000213120
AA Change: M200R

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000213452
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the highly conserved copine family. It encodes a calcium-dependent, phospholipid-binding protein, which may be involved in membrane trafficking, mitogenesis and development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,472,394 probably null Het
Aqp7 G A 4: 41,045,321 R20* probably null Het
Asxl2 G T 12: 3,502,112 V1285L probably benign Het
Bdp1 A T 13: 100,066,053 S688T probably benign Het
Cc2d2a A T 5: 43,688,969 I357F probably damaging Het
Clasp1 A T 1: 118,570,889 I884F probably damaging Het
Cyp2d10 T A 15: 82,403,885 D180V probably damaging Het
Dicer1 A T 12: 104,704,180 V1042D probably damaging Het
Dlc1 G A 8: 36,850,180 T447I probably damaging Het
Efl1 T C 7: 82,763,319 M972T possibly damaging Het
Erbin A G 13: 103,834,766 S781P probably damaging Het
Fam46b A G 4: 133,486,309 I164V possibly damaging Het
Galnt4 G A 10: 99,109,241 G276D probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gmppa A G 1: 75,437,017 I41V probably damaging Het
Golga1 C T 2: 39,050,198 probably benign Het
H2-Ob G T 17: 34,242,545 W86L probably damaging Het
Hnrnpr G A 4: 136,339,574 R482H unknown Het
L2hgdh T C 12: 69,722,095 E81G probably damaging Het
Mre11a T C 9: 14,811,897 V389A possibly damaging Het
Mxra8 A G 4: 155,842,801 T372A probably benign Het
Ncapg T A 5: 45,688,581 S593R probably benign Het
Ndufaf1 C T 2: 119,658,287 W250* probably null Het
Neb T C 2: 52,153,069 E6783G probably damaging Het
Nmt2 T C 2: 3,312,674 Y175H probably damaging Het
Olfml2b T C 1: 170,662,355 probably benign Het
Pitpnm3 T A 11: 72,056,138 M812L probably damaging Het
Pou2f3 A G 9: 43,134,473 probably benign Het
Prkdc A G 16: 15,783,087 T2871A probably benign Het
Rapgef4 A G 2: 72,198,360 T392A possibly damaging Het
Rhov G T 2: 119,270,738 Q71K probably benign Het
Slc22a15 T C 3: 101,860,794 probably benign Het
Spaca1 T A 4: 34,040,894 N22Y probably damaging Het
Stmnd1 A G 13: 46,289,713 E107G probably damaging Het
Timm22 T C 11: 76,407,437 V78A probably damaging Het
Usp47 T C 7: 112,077,786 probably benign Het
Utp4 A C 8: 106,912,317 K419T probably benign Het
Zfp410 T C 12: 84,325,791 probably null Het
Other mutations in Cpne4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01650:Cpne4 APN 9 104901511 missense probably damaging 1.00
IGL02097:Cpne4 APN 9 104686502 missense probably damaging 1.00
IGL02698:Cpne4 APN 9 105032785 missense probably damaging 1.00
IGL02933:Cpne4 APN 9 105019767 missense possibly damaging 0.64
R0471:Cpne4 UTSW 9 105022282 splice site probably null
R0528:Cpne4 UTSW 9 104686441 missense probably damaging 0.99
R0698:Cpne4 UTSW 9 104925795 missense probably damaging 1.00
R1025:Cpne4 UTSW 9 104993858 missense possibly damaging 0.64
R1054:Cpne4 UTSW 9 105022401 missense probably benign 0.01
R1300:Cpne4 UTSW 9 104993134 missense probably damaging 1.00
R1422:Cpne4 UTSW 9 104900285 missense probably damaging 0.98
R1439:Cpne4 UTSW 9 104989632 missense probably damaging 0.99
R1634:Cpne4 UTSW 9 104989579 missense possibly damaging 0.94
R1777:Cpne4 UTSW 9 104872688 missense probably damaging 1.00
R2992:Cpne4 UTSW 9 105022365 missense probably damaging 1.00
R4094:Cpne4 UTSW 9 104686535 missense probably damaging 1.00
R4729:Cpne4 UTSW 9 104922556 missense probably damaging 0.96
R4943:Cpne4 UTSW 9 105019773 missense probably damaging 1.00
R5119:Cpne4 UTSW 9 104901521 splice site probably null
R5787:Cpne4 UTSW 9 105022401 missense probably benign 0.01
R5839:Cpne4 UTSW 9 104925828 missense probably damaging 1.00
R5876:Cpne4 UTSW 9 104925770 missense probably damaging 0.98
R7386:Cpne4 UTSW 9 104872740 missense possibly damaging 0.82
R7849:Cpne4 UTSW 9 104686519 missense probably damaging 0.99
R7887:Cpne4 UTSW 9 105032791 missense probably damaging 1.00
R8910:Cpne4 UTSW 9 104922507 intron probably benign
R9267:Cpne4 UTSW 9 105007634 missense probably damaging 0.97
R9368:Cpne4 UTSW 9 104686539 missense probably damaging 0.99
R9407:Cpne4 UTSW 9 104872764 missense probably damaging 1.00
Posted On 2014-05-07