Incidental Mutation 'R0698:Cpne4'
ID 62915
Institutional Source Beutler Lab
Gene Symbol Cpne4
Ensembl Gene ENSMUSG00000032564
Gene Name copine IV
Synonyms 3632411M23Rik, 4933406O10Rik
MMRRC Submission 038882-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R0698 (G1)
Quality Score 156
Status Not validated
Chromosome 9
Chromosomal Location 104443900-104911747 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104802994 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 213 (S213P)
Ref Sequence ENSEMBL: ENSMUSP00000076432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057742] [ENSMUST00000077190] [ENSMUST00000213120] [ENSMUST00000213452]
AlphaFold Q8BLR2
Predicted Effect possibly damaging
Transcript: ENSMUST00000057742
AA Change: S213P

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000049663
Gene: ENSMUSG00000032564
AA Change: S213P

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: S213P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000076432
Gene: ENSMUSG00000032564
AA Change: S213P

DomainStartEndE-ValueType
C2 24 130 4.29e-6 SMART
C2 144 275 1.94e1 SMART
VWA 223 425 9.73e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000213120
AA Change: S213P

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000213452
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.8%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy5 C T 16: 35,110,452 (GRCm39) T873M possibly damaging Het
Ap4e1 G A 2: 126,905,283 (GRCm39) E985K probably benign Het
Arhgap18 T C 10: 26,788,625 (GRCm39) I579T probably damaging Het
Arhgef11 G T 3: 87,640,766 (GRCm39) A1308S probably benign Het
Arhgef5 A G 6: 43,250,275 (GRCm39) E342G probably damaging Het
Atm T C 9: 53,426,539 (GRCm39) E573G probably damaging Het
Baz1b T C 5: 135,227,075 (GRCm39) V92A probably damaging Het
Cmya5 A G 13: 93,232,065 (GRCm39) S1008P probably damaging Het
Col6a1 A G 10: 76,552,114 (GRCm39) V459A unknown Het
Dock10 T A 1: 80,507,895 (GRCm39) Q1672L probably damaging Het
Grm8 C T 6: 27,363,913 (GRCm39) C534Y probably damaging Het
Ints7 A G 1: 191,326,576 (GRCm39) M183V probably damaging Het
Invs T G 4: 48,396,364 (GRCm39) S346A probably benign Het
Krtap9-3 C A 11: 99,488,663 (GRCm39) C73F probably damaging Het
Lrrtm4 T C 6: 79,999,911 (GRCm39) L441P probably damaging Het
Map4 C T 9: 109,897,856 (GRCm39) R81* probably null Het
Med1 A G 11: 98,046,515 (GRCm39) probably benign Het
Necab1 T C 4: 15,005,041 (GRCm39) N141S probably benign Het
Or1d2 A T 11: 74,255,968 (GRCm39) I158F probably benign Het
Pcdhb2 A T 18: 37,430,419 (GRCm39) E797D probably benign Het
Pclo T C 5: 14,762,530 (GRCm39) Y3668H unknown Het
Peg10 T A 6: 4,756,835 (GRCm39) probably benign Het
Psd2 A G 18: 36,145,764 (GRCm39) I723V probably benign Het
Ptprn2 C T 12: 116,685,750 (GRCm39) R70* probably null Het
R3hdm1 A G 1: 128,109,476 (GRCm39) Y309C probably damaging Het
Rab13 C T 3: 90,132,043 (GRCm39) T69M probably damaging Het
Rpl32 T C 6: 115,782,551 (GRCm39) N126S probably benign Het
Sis C A 3: 72,817,831 (GRCm39) A1461S probably damaging Het
Slc2a13 T C 15: 91,205,870 (GRCm39) D439G probably benign Het
Spta1 T C 1: 174,008,670 (GRCm39) L258P probably damaging Het
Synj1 T C 16: 90,757,503 (GRCm39) T882A probably benign Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Tada3 A T 6: 113,343,968 (GRCm39) L227Q probably damaging Het
Tet2 A T 3: 133,173,145 (GRCm39) S1706T probably benign Het
Ttc6 G A 12: 57,720,002 (GRCm39) V858I probably benign Het
Tut4 T A 4: 108,412,730 (GRCm39) M1477K probably benign Het
Vps13c C A 9: 67,797,005 (GRCm39) A464E probably benign Het
Zbtb17 T C 4: 141,193,407 (GRCm39) probably null Het
Zcwpw1 G A 5: 137,815,783 (GRCm39) E429K 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
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
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'- AGTTTGCATCAAGCCACCTGTCC -3'
(R):5'- TTTCTGAAACACCCCAGTCACTGTC -3'

Sequencing Primer
(F):5'- AGCCACCTGTCCCAGATG -3'
(R):5'- TAGCTCTGGAAGAAGAAATAGCCTC -3'
Posted On 2013-07-30