Incidental Mutation 'R2992:Cpne4'
ID 257940
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 # R2992 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 104443900-104911747 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104899564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 416 (I416F)
Ref Sequence ENSEMBL: ENSMUSP00000049663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057742] [ENSMUST00000077190] [ENSMUST00000213452]
AlphaFold Q8BLR2
Predicted Effect probably damaging
Transcript: ENSMUST00000057742
AA Change: I416F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000049663
Gene: ENSMUSG00000032564
AA Change: I416F

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 unknown
Transcript: ENSMUST00000077190
AA Change: I334F
SMART Domains Protein: ENSMUSP00000076432
Gene: ENSMUSG00000032564
AA Change: I334F

DomainStartEndE-ValueType
C2 24 130 4.29e-6 SMART
C2 144 275 1.94e1 SMART
VWA 223 425 9.73e-12 SMART
Predicted Effect unknown
Transcript: ENSMUST00000213452
AA Change: I167F
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Baat A T 4: 49,499,675 (GRCm39) Y210* probably null Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cep295 T A 9: 15,244,043 (GRCm39) K1471I probably damaging Het
Cul7 C G 17: 46,962,526 (GRCm39) D52E probably benign Het
Isg20 C T 7: 78,569,632 (GRCm39) A201V probably benign Het
Kdm6b ACTGCTGCTGCTGCTGCTGCTGCTG ACTGCTGCTGCTGCTGCTGCTG 11: 69,297,133 (GRCm39) probably benign Het
Mmp16 G T 4: 18,011,657 (GRCm39) G191C probably damaging Het
Or51aa5 C T 7: 103,166,977 (GRCm39) V205M probably damaging Het
Or6c2b C A 10: 128,947,404 (GRCm39) E297* probably null Het
Or9m2 T C 2: 87,821,121 (GRCm39) V222A probably benign Het
Patl2 T C 2: 121,956,235 (GRCm39) S210G probably damaging Het
Plekha6 T C 1: 133,222,396 (GRCm39) I994T probably damaging Het
Rap1gap2 C A 11: 74,298,148 (GRCm39) A491S possibly damaging Het
Rhobtb2 A G 14: 70,035,772 (GRCm39) S100P probably damaging Het
Snx13 T C 12: 35,155,190 (GRCm39) L418P probably damaging Het
Spink5 A C 18: 44,129,696 (GRCm39) E429A probably damaging 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
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
R5876:Cpne4 UTSW 9 104,802,969 (GRCm39) missense probably damaging 0.98
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'- TGTCTTGAGATCCTACAAGTGG -3'
(R):5'- GTGTCCACCCTAAGCTTCAC -3'

Sequencing Primer
(F):5'- CTATCTGGAGAAAGTTAATGTGTTGC -3'
(R):5'- TCCTCCAATAAAGAGACTGTGAAG -3'
Posted On 2015-01-11