Incidental Mutation 'R5876:Cpne4'
ID 455541
Institutional Source Beutler Lab
Gene Symbol Cpne4
Ensembl Gene ENSMUSG00000032564
Gene Name copine IV
Synonyms 3632411M23Rik, 4933406O10Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R5876 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 104443900-104911747 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 104802969 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 204 (S204R)
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: S204R

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000049663
Gene: ENSMUSG00000032564
AA Change: S204R

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 probably damaging
Transcript: ENSMUST00000077190
AA Change: S204R

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000076432
Gene: ENSMUSG00000032564
AA Change: S204R

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: S204R

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000213452
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034E13Rik A G 18: 52,796,654 (GRCm39) D64G possibly damaging Het
Ano2 T A 6: 126,016,242 (GRCm39) M925K possibly damaging Het
Arnt2 T C 7: 83,996,720 (GRCm39) T69A probably damaging Het
Asap2 T A 12: 21,262,810 (GRCm39) N229K possibly damaging Het
Atp13a3 T A 16: 30,181,552 (GRCm39) N23Y probably benign Het
Cbr4 G A 8: 61,943,627 (GRCm39) G91R possibly damaging Het
Cdc27 A T 11: 104,406,244 (GRCm39) C624S probably benign Het
Cdc42bpg T A 19: 6,360,845 (GRCm39) I201N probably damaging Het
Cdh5 A G 8: 104,869,209 (GRCm39) Y645C probably damaging Het
Celsr2 C T 3: 108,321,259 (GRCm39) V518I probably damaging Het
Clca4b T C 3: 144,617,821 (GRCm39) T761A possibly damaging Het
Dcaf1 T C 9: 106,740,849 (GRCm39) W1279R probably damaging Het
Dennd4a C T 9: 64,819,037 (GRCm39) P1731S probably damaging Het
Dmxl1 T A 18: 50,004,051 (GRCm39) V892D possibly damaging Het
Fam131b A G 6: 42,298,182 (GRCm39) probably null Het
Fam83b T A 9: 76,399,132 (GRCm39) D657V possibly damaging Het
Fam83e T A 7: 45,371,787 (GRCm39) probably null Het
Fbxo4 A T 15: 4,007,301 (GRCm39) I121N probably damaging Het
Gabrg2 A G 11: 41,859,647 (GRCm39) S202P probably damaging Het
Grid2 T A 6: 64,640,146 (GRCm39) I788N probably damaging Het
Grik4 T A 9: 42,599,319 (GRCm39) N53Y probably damaging Het
Hipk2 A C 6: 38,707,802 (GRCm39) probably null Het
Hps5 T C 7: 46,438,620 (GRCm39) T38A probably damaging Het
Hs1bp3 A G 12: 8,391,843 (GRCm39) D315G possibly damaging Het
Kdm4a C T 4: 117,996,073 (GRCm39) M985I probably damaging Het
Kdm5d A G Y: 900,525 (GRCm39) Y190C probably damaging Het
Krt86 T C 15: 101,374,491 (GRCm39) S295P probably damaging Het
Matr3 T A 18: 35,720,791 (GRCm39) D413E probably benign Het
Mbd5 T A 2: 49,164,657 (GRCm39) F319L probably damaging Het
Mcoln1 T A 8: 3,560,910 (GRCm39) Y411N probably damaging Het
Mpdz C A 4: 81,203,711 (GRCm39) E1863* probably null Het
Mrps9 A G 1: 42,934,538 (GRCm39) E173G probably damaging Het
Or7a42 A T 10: 78,791,191 (GRCm39) I51F probably benign Het
Osmr T C 15: 6,850,528 (GRCm39) T692A probably benign Het
Pkhd1l1 A T 15: 44,441,984 (GRCm39) H3641L possibly damaging Het
Pml T C 9: 58,140,465 (GRCm39) T421A possibly damaging Het
Podxl A G 6: 31,505,391 (GRCm39) probably null Het
Ppargc1b C G 18: 61,442,164 (GRCm39) D591H probably damaging Het
Prkag3 A G 1: 74,787,975 (GRCm39) probably benign Het
Proz A G 8: 13,123,448 (GRCm39) R240G probably benign Het
Ptpn13 C A 5: 103,624,826 (GRCm39) D43E probably damaging Het
Rbm5 T G 9: 107,637,525 (GRCm39) K135N probably damaging Het
Ska1 G A 18: 74,330,599 (GRCm39) T201M probably damaging Het
Slc35f5 A C 1: 125,515,100 (GRCm39) probably null Het
Slc9a3 T C 13: 74,309,842 (GRCm39) L510P probably damaging Het
Speer4a2 T C 5: 26,289,716 (GRCm39) E237G probably damaging Het
Svil A G 18: 5,082,828 (GRCm39) K1231E probably damaging Het
Tanc2 T C 11: 105,813,439 (GRCm39) S1628P possibly damaging Het
Tm9sf3 T A 19: 41,229,023 (GRCm39) D260V probably damaging Het
Ttc9 G T 12: 81,678,396 (GRCm39) R73L probably damaging Het
Vps13b A G 15: 35,917,207 (GRCm39) I3684V probably damaging Het
Vps8 T C 16: 21,280,189 (GRCm39) probably null Het
Vwa3b T A 1: 37,115,520 (GRCm39) I328N probably damaging Het
Wdr1 C T 5: 38,687,366 (GRCm39) V222M probably benign Het
Xpnpep1 T A 19: 52,985,439 (GRCm39) T530S probably damaging Het
Zc3h6 C T 2: 128,835,197 (GRCm39) S111F probably benign Het
Zfp768 G A 7: 126,943,718 (GRCm39) P137S probably benign Het
Other mutations in Cpne4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01650:Cpne4 APN 9 104,778,710 (GRCm39) missense probably damaging 1.00
IGL01871:Cpne4 APN 9 104,802,956 (GRCm39) missense possibly damaging 0.93
IGL02097:Cpne4 APN 9 104,563,701 (GRCm39) missense probably damaging 1.00
IGL02698:Cpne4 APN 9 104,909,984 (GRCm39) missense probably damaging 1.00
IGL02933:Cpne4 APN 9 104,896,966 (GRCm39) missense possibly damaging 0.64
R0471:Cpne4 UTSW 9 104,899,481 (GRCm39) splice site probably null
R0528:Cpne4 UTSW 9 104,563,640 (GRCm39) missense probably damaging 0.99
R0698:Cpne4 UTSW 9 104,802,994 (GRCm39) missense probably damaging 1.00
R1025:Cpne4 UTSW 9 104,871,057 (GRCm39) missense possibly damaging 0.64
R1054:Cpne4 UTSW 9 104,899,600 (GRCm39) missense probably benign 0.01
R1300:Cpne4 UTSW 9 104,870,333 (GRCm39) missense probably damaging 1.00
R1422:Cpne4 UTSW 9 104,777,484 (GRCm39) missense probably damaging 0.98
R1439:Cpne4 UTSW 9 104,866,831 (GRCm39) missense probably damaging 0.99
R1634:Cpne4 UTSW 9 104,866,778 (GRCm39) missense possibly damaging 0.94
R1777:Cpne4 UTSW 9 104,749,887 (GRCm39) missense probably damaging 1.00
R2992:Cpne4 UTSW 9 104,899,564 (GRCm39) missense probably damaging 1.00
R4094:Cpne4 UTSW 9 104,563,734 (GRCm39) missense probably damaging 1.00
R4729:Cpne4 UTSW 9 104,799,755 (GRCm39) missense probably damaging 0.96
R4943:Cpne4 UTSW 9 104,896,972 (GRCm39) missense probably damaging 1.00
R5119:Cpne4 UTSW 9 104,778,720 (GRCm39) splice site probably null
R5787:Cpne4 UTSW 9 104,899,600 (GRCm39) missense probably benign 0.01
R5839:Cpne4 UTSW 9 104,803,027 (GRCm39) missense probably damaging 1.00
R7386:Cpne4 UTSW 9 104,749,939 (GRCm39) missense possibly damaging 0.82
R7849:Cpne4 UTSW 9 104,563,718 (GRCm39) missense probably damaging 0.99
R7887:Cpne4 UTSW 9 104,909,990 (GRCm39) missense probably damaging 1.00
R8910:Cpne4 UTSW 9 104,799,706 (GRCm39) intron probably benign
R9267:Cpne4 UTSW 9 104,884,833 (GRCm39) missense probably damaging 0.97
R9368:Cpne4 UTSW 9 104,563,738 (GRCm39) missense probably damaging 0.99
R9407:Cpne4 UTSW 9 104,749,963 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCCTCAAGTTTGCATCAAGC -3'
(R):5'- AGCTCTGGAAGAAGAAATAGCCTC -3'

Sequencing Primer
(F):5'- AGTTTGCATCAAGCCACCTG -3'
(R):5'- CTGGAAGAAGAAATAGCCTCACTTTC -3'
Posted On 2017-02-10