Incidental Mutation 'IGL03277:Cpne2'
ID 415466
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpne2
Ensembl Gene ENSMUSG00000034361
Gene Name copine II
Synonyms 3322401K10Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # IGL03277
Quality Score
Status
Chromosome 8
Chromosomal Location 95259618-95297159 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95275000 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 3 (Y3H)
Ref Sequence ENSEMBL: ENSMUSP00000105163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048653] [ENSMUST00000109537]
AlphaFold P59108
Predicted Effect probably benign
Transcript: ENSMUST00000048653
AA Change: Y3H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000045755
Gene: ENSMUSG00000034361
AA Change: Y3H

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: Y3H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000105163
Gene: ENSMUSG00000034361
AA Change: Y3H

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: ENSMUST00000136550
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156894
Coding Region Coverage
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amt A G 9: 108,178,418 (GRCm39) T342A probably benign Het
Atosa G A 9: 74,916,514 (GRCm39) R371Q probably damaging Het
B3glct T C 5: 149,650,299 (GRCm39) L134P probably damaging Het
Bms1 A T 6: 118,382,083 (GRCm39) M485K probably benign Het
Chd6 T C 2: 160,824,981 (GRCm39) N1226S probably null Het
Dmxl2 A G 9: 54,311,504 (GRCm39) V1739A probably damaging Het
Dnah7a T A 1: 53,669,481 (GRCm39) T543S probably benign Het
Dock11 T G X: 35,277,603 (GRCm39) V1000G probably benign Het
Ednrb T A 14: 104,080,735 (GRCm39) N60Y probably benign Het
Eif3d A G 15: 77,843,849 (GRCm39) M499T possibly damaging Het
Elmod1 G A 9: 53,833,272 (GRCm39) L178F probably damaging Het
Hrh4 T C 18: 13,148,940 (GRCm39) S101P probably damaging Het
Ift172 A G 5: 31,424,642 (GRCm39) V684A possibly damaging Het
Mtx2 A G 2: 74,698,748 (GRCm39) T124A probably damaging Het
Nat3 T A 8: 68,000,341 (GRCm39) H73Q probably benign Het
Ndst2 A G 14: 20,780,234 (GRCm39) L2P possibly damaging Het
Nipsnap3a G T 4: 52,997,219 (GRCm39) A162S probably benign Het
Or2a57 T G 6: 43,212,876 (GRCm39) C111W probably damaging Het
Or5m5 T C 2: 85,814,517 (GRCm39) I111T probably damaging Het
Peg3 T C 7: 6,714,673 (GRCm39) D183G probably damaging Het
Prlr A G 15: 10,328,887 (GRCm39) E454G probably benign Het
Prom1 G A 5: 44,190,313 (GRCm39) Q364* probably null Het
Scgb2b7 A T 7: 31,404,506 (GRCm39) C65S probably damaging Het
Sema5b A G 16: 35,471,682 (GRCm39) D425G probably damaging Het
Slc16a7 A T 10: 125,066,560 (GRCm39) C360S probably benign Het
Slc38a7 T A 8: 96,575,104 (GRCm39) I59F probably damaging Het
Slc5a6 A G 5: 31,195,372 (GRCm39) C449R possibly damaging Het
Slc9b1 T C 3: 135,096,269 (GRCm39) Y357H possibly damaging Het
Snx17 A T 5: 31,353,084 (GRCm39) probably benign Het
Stk32b A C 5: 37,786,320 (GRCm39) M48R probably damaging Het
Tspan9 A G 6: 127,944,038 (GRCm39) probably null Het
Tst A T 15: 78,289,521 (GRCm39) N171K probably damaging Het
Vmn1r180 T A 7: 23,652,710 (GRCm39) I291N probably damaging Het
Vmn2r32 T A 7: 7,477,251 (GRCm39) D380V probably benign Het
Wdfy4 T C 14: 32,790,861 (GRCm39) T2189A probably benign Het
Zbtb20 A G 16: 43,438,800 (GRCm39) N640S possibly damaging Het
Zfp142 A G 1: 74,610,193 (GRCm39) S1098P 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
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
R4856:Cpne2 UTSW 8 95,290,592 (GRCm39) missense probably benign 0.00
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
Posted On 2016-08-02