Incidental Mutation 'R4856:Cpne2'
ID 373968
Institutional Source Beutler Lab
Gene Symbol Cpne2
Ensembl Gene ENSMUSG00000034361
Gene Name copine II
Synonyms 3322401K10Rik
MMRRC Submission 042467-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R4856 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 95259618-95297159 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 95290592 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 392 (D392E)
Ref Sequence ENSEMBL: ENSMUSP00000045755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048653] [ENSMUST00000109537]
AlphaFold P59108
Predicted Effect probably benign
Transcript: ENSMUST00000048653
AA Change: D392E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000045755
Gene: ENSMUSG00000034361
AA Change: D392E

DomainStartEndE-ValueType
C2 24 130 1.82e-9 SMART
C2 155 261 8.25e-8 SMART
low complexity region 269 278 N/A INTRINSIC
VWA 305 507 7.26e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109537
AA Change: D392E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105163
Gene: ENSMUSG00000034361
AA Change: D392E

DomainStartEndE-ValueType
C2 24 130 1.82e-9 SMART
C2 155 261 8.25e-8 SMART
low complexity region 269 278 N/A INTRINSIC
VWA 305 506 8.94e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156377
Predicted Effect probably benign
Transcript: ENSMUST00000212550
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
Validation Efficiency
MGI Phenotype FUNCTION: Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encodes a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp2 G A 6: 140,589,799 (GRCm39) probably null Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp2b4 T A 1: 133,634,518 (GRCm39) I1177L probably benign Het
Bub3 A T 7: 131,163,297 (GRCm39) D76V probably damaging Het
Cacna2d4 G A 6: 119,255,217 (GRCm39) R578Q possibly damaging Het
Caprin2 A C 6: 148,774,509 (GRCm39) S268A probably benign Het
Card6 T C 15: 5,134,623 (GRCm39) probably null Het
Cdk13 A G 13: 17,894,319 (GRCm39) S1103P probably benign Het
Cfap221 T C 1: 119,861,934 (GRCm39) T614A probably damaging Het
Cfap221 T A 1: 119,912,488 (GRCm39) Y133F probably damaging Het
Clcc1 A G 3: 108,584,154 (GRCm39) T513A probably benign Het
Clec4g T A 8: 3,766,419 (GRCm39) probably benign Het
Cntln A C 4: 84,889,466 (GRCm39) E316D probably benign Het
Cry1 G T 10: 84,984,634 (GRCm39) P147T probably damaging Het
Cyp4a29 T C 4: 115,110,078 (GRCm39) V440A probably benign Het
Ddx46 A G 13: 55,786,012 (GRCm39) D64G unknown Het
Dhx34 A G 7: 15,949,367 (GRCm39) S354P possibly damaging Het
Ecm2 A T 13: 49,676,263 (GRCm39) I327F possibly damaging Het
Elavl3 T C 9: 21,937,614 (GRCm39) K189E possibly damaging Het
Enam A T 5: 88,636,593 (GRCm39) R82* probably null Het
Erf A G 7: 24,945,636 (GRCm39) V45A probably damaging Het
Fat3 T A 9: 15,932,626 (GRCm39) I1436F probably benign Het
Flnc T C 6: 29,447,889 (GRCm39) Y1231H probably damaging Het
Ggta1 T A 2: 35,292,803 (GRCm39) H180L possibly damaging Het
Grin2c T C 11: 115,151,616 (GRCm39) T115A probably damaging Het
H6pd C T 4: 150,067,235 (GRCm39) V384M possibly damaging Het
Hba-x A G 11: 32,227,008 (GRCm39) E39G probably benign Het
Hnrnpul2 C T 19: 8,807,191 (GRCm39) P618S probably benign Het
Hpse2 C T 19: 42,777,396 (GRCm39) R590H probably damaging Het
Ighv1-54 C A 12: 115,157,423 (GRCm39) G75C probably damaging Het
Ighv8-11 C A 12: 115,530,774 (GRCm39) R118L possibly damaging Het
Iqcm A T 8: 76,615,228 (GRCm39) R436S possibly damaging Het
Islr T C 9: 58,064,889 (GRCm39) D206G probably damaging Het
Itih1 A G 14: 30,658,658 (GRCm39) probably null Het
Jam2 G A 16: 84,598,490 (GRCm39) D34N probably benign Het
Klhl14 A T 18: 21,691,029 (GRCm39) probably null Het
Lama2 TTTGCGCATT TTT 10: 26,919,639 (GRCm39) probably null Het
Lrrc66 A G 5: 73,765,910 (GRCm39) F378L probably benign Het
Map10 T A 8: 126,397,431 (GRCm39) Y275N probably damaging Het
Mpi T C 9: 57,452,590 (GRCm39) Y314C probably damaging Het
Mpp3 A G 11: 101,915,962 (GRCm39) Y55H probably benign Het
Nectin4 T C 1: 171,212,383 (GRCm39) V327A possibly damaging Het
Nlrp12 T A 7: 3,289,072 (GRCm39) D480V probably damaging Het
Nolc1 GAGCAGCAGCAGCAGCAGCAGCAGCAGC GAGCAGCAGCAGCAGCAGCAGCAGC 19: 46,071,594 (GRCm39) probably benign Het
Notch2 A T 3: 98,009,735 (GRCm39) Y554F probably damaging Het
Nrsn2 T C 2: 152,211,531 (GRCm39) K167E probably benign Het
Olr1 T A 6: 129,470,559 (GRCm39) K203* probably null Het
Or14j8 A T 17: 38,262,962 (GRCm39) S318T probably benign Het
Or2ag13 T A 7: 106,473,177 (GRCm39) I92F probably damaging Het
Or5b117 T C 19: 13,431,885 (GRCm39) probably null Het
Or8b3 A T 9: 38,314,764 (GRCm39) N195I probably damaging Het
Or9i2 T A 19: 13,815,643 (GRCm39) E298V probably damaging Het
Osbpl9 T C 4: 108,925,564 (GRCm39) N485S probably benign Het
Pbk T A 14: 66,052,650 (GRCm39) H164Q probably damaging Het
Pfn2 G T 3: 57,754,874 (GRCm39) N10K probably damaging Het
Pik3ca A G 3: 32,491,312 (GRCm39) D133G probably damaging Het
Pramel27 G T 4: 143,579,873 (GRCm39) R486L probably benign Het
Prl6a1 A T 13: 27,502,983 (GRCm39) D193V probably damaging Het
Rad21 G T 15: 51,831,896 (GRCm39) P395Q probably damaging Het
Reps1 T A 10: 17,999,373 (GRCm39) I720N probably damaging Het
Rpn2 T C 2: 157,159,964 (GRCm39) probably null Het
Rreb1 G A 13: 38,115,034 (GRCm39) V798M possibly damaging Het
Sardh C T 2: 27,134,489 (GRCm39) R9H probably benign Het
Scgb3a2 C T 18: 43,899,819 (GRCm39) P36S probably damaging Het
Scn10a C A 9: 119,523,375 (GRCm39) G6V possibly damaging Het
Scn10a C T 9: 119,523,376 (GRCm39) G6R possibly damaging Het
Scn3a T C 2: 65,291,376 (GRCm39) D1790G probably damaging Het
Sec24b A T 3: 129,777,619 (GRCm39) H1226Q probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc12a3 G A 8: 95,078,438 (GRCm39) probably null Het
Slitrk6 T C 14: 110,989,315 (GRCm39) T131A probably damaging Het
Spata1 C G 3: 146,175,529 (GRCm39) D326H probably damaging Het
Tex52 A T 6: 128,361,951 (GRCm39) probably null Het
Tma16 A C 8: 66,934,129 (GRCm39) C75W probably damaging Het
Tmem67 G A 4: 12,089,416 (GRCm39) probably benign Het
Trgv4 T C 13: 19,369,236 (GRCm39) V29A probably benign Het
Trmt10a A T 3: 137,854,146 (GRCm39) K75* probably null Het
Ttc3 T C 16: 94,191,142 (GRCm39) V228A probably benign Het
Ttn T C 2: 76,561,644 (GRCm39) D28954G probably damaging Het
Uggt2 A G 14: 119,273,376 (GRCm39) probably null Het
Vars1 T A 17: 35,234,702 (GRCm39) V1177E probably benign Het
Vmn1r59 T C 7: 5,457,532 (GRCm39) D76G possibly damaging Het
Vmn2r114 G T 17: 23,527,008 (GRCm39) A508E probably benign Het
Vps41 G A 13: 19,013,425 (GRCm39) V348M probably damaging Het
Zbtb43 T C 2: 33,343,944 (GRCm39) H427R probably damaging Het
Other mutations in Cpne2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01688:Cpne2 APN 8 95,281,381 (GRCm39) missense possibly damaging 0.84
IGL02702:Cpne2 APN 8 95,296,651 (GRCm39) missense probably benign 0.03
IGL03277:Cpne2 APN 8 95,275,000 (GRCm39) missense probably benign 0.00
R0018:Cpne2 UTSW 8 95,282,681 (GRCm39) missense possibly damaging 0.93
R0018:Cpne2 UTSW 8 95,282,681 (GRCm39) missense possibly damaging 0.93
R0126:Cpne2 UTSW 8 95,281,561 (GRCm39) missense probably damaging 1.00
R0135:Cpne2 UTSW 8 95,281,553 (GRCm39) unclassified probably benign
R0167:Cpne2 UTSW 8 95,295,207 (GRCm39) unclassified probably benign
R0661:Cpne2 UTSW 8 95,282,667 (GRCm39) missense possibly damaging 0.78
R0671:Cpne2 UTSW 8 95,274,970 (GRCm39) start gained probably benign
R4691:Cpne2 UTSW 8 95,284,849 (GRCm39) missense probably damaging 0.99
R4886:Cpne2 UTSW 8 95,290,592 (GRCm39) missense probably benign 0.00
R6632:Cpne2 UTSW 8 95,281,583 (GRCm39) missense probably benign 0.00
R6699:Cpne2 UTSW 8 95,290,587 (GRCm39) missense probably damaging 0.99
R6968:Cpne2 UTSW 8 95,275,130 (GRCm39) missense probably damaging 1.00
R7117:Cpne2 UTSW 8 95,282,172 (GRCm39) missense probably damaging 1.00
R7505:Cpne2 UTSW 8 95,275,094 (GRCm39) missense possibly damaging 0.90
R7571:Cpne2 UTSW 8 95,278,408 (GRCm39) missense probably benign
R7583:Cpne2 UTSW 8 95,282,209 (GRCm39) missense probably benign
R7612:Cpne2 UTSW 8 95,284,048 (GRCm39) missense probably benign 0.01
R7745:Cpne2 UTSW 8 95,295,312 (GRCm39) missense probably damaging 1.00
R7845:Cpne2 UTSW 8 95,277,832 (GRCm39) missense probably benign 0.16
R8278:Cpne2 UTSW 8 95,281,316 (GRCm39) missense probably damaging 1.00
R8319:Cpne2 UTSW 8 95,280,040 (GRCm39) missense probably benign 0.01
R8954:Cpne2 UTSW 8 95,284,774 (GRCm39) missense probably damaging 1.00
R9082:Cpne2 UTSW 8 95,295,237 (GRCm39) missense probably benign 0.45
R9275:Cpne2 UTSW 8 95,281,643 (GRCm39) missense possibly damaging 0.95
R9588:Cpne2 UTSW 8 95,286,781 (GRCm39) missense possibly damaging 0.92
R9734:Cpne2 UTSW 8 95,295,228 (GRCm39) missense probably benign 0.34
X0025:Cpne2 UTSW 8 95,284,079 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACCCTTAGGCTCTTGAGTATGC -3'
(R):5'- AGCACACATCCCGATCTGTTG -3'

Sequencing Primer
(F):5'- AGGCTCTTGAGTATGCCCTTAGC -3'
(R):5'- GTGCCACCCACAGCTAG -3'
Posted On 2016-03-01