Incidental Mutation 'IGL02702:Cpne2'
ID304183
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpne2
Ensembl Gene ENSMUSG00000034361
Gene Namecopine II
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.181) question?
Stock #IGL02702
Quality Score
Status
Chromosome8
Chromosomal Location94532990-94570531 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 94570023 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 530 (V530A)
Ref Sequence ENSEMBL: ENSMUSP00000105163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034226] [ENSMUST00000048653] [ENSMUST00000109537]
Predicted Effect probably benign
Transcript: ENSMUST00000034226
SMART Domains Protein: ENSMUSP00000034226
Gene: ENSMUSG00000031774

DomainStartEndE-ValueType
Pfam:Nefa_Nip30_N 15 116 6.4e-36 PFAM
low complexity region 172 178 N/A INTRINSIC
low complexity region 188 199 N/A INTRINSIC
low complexity region 219 232 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000048653
AA Change: V531A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000045755
Gene: ENSMUSG00000034361
AA Change: V531A

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: V530A

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000105163
Gene: ENSMUSG00000034361
AA Change: V530A

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
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 C T 6: 88,838,138 V337I probably benign Het
Adam11 G A 11: 102,777,038 V750I probably benign Het
Alms1 T C 6: 85,599,849 V129A probably benign Het
Cacna1d T A 14: 30,123,533 K560* probably null Het
Cntn1 A G 15: 92,291,601 probably benign Het
Fbxo21 T C 5: 118,000,510 L507P probably damaging Het
Fndc4 T C 5: 31,293,735 K204R probably damaging Het
Gnrhr G T 5: 86,182,269 N297K possibly damaging Het
Grin2b A G 6: 135,739,132 F729S probably damaging Het
Hdac3 C A 18: 37,941,094 R359L probably benign Het
Met T C 6: 17,534,143 S662P possibly damaging Het
Mphosph9 T A 5: 124,259,989 E1081D probably damaging Het
Mycbp2 T G 14: 103,220,124 T1546P probably benign Het
Nlrp9a T A 7: 26,564,956 M767K possibly damaging Het
Olfm5 A G 7: 104,154,357 Y300H probably damaging Het
Olfr911-ps1 T A 9: 38,524,560 V276D probably damaging Het
Pcf11 A T 7: 92,661,618 N178K possibly damaging Het
Polr3a T C 14: 24,470,877 I571M probably benign Het
Ppef2 T A 5: 92,231,819 R557W probably benign Het
Prelid3a T A 18: 67,473,794 D85E probably damaging Het
Rb1cc1 A G 1: 6,240,023 E215G probably damaging Het
Rbm12 C T 2: 156,095,560 probably benign Het
Recql4 C T 15: 76,707,285 G501R probably damaging Het
Sema3e T C 5: 14,233,726 probably benign Het
Shisa6 A C 11: 66,219,962 L318V probably damaging Het
Slu7 T C 11: 43,438,892 probably benign Het
Spink12 T C 18: 44,104,769 V38A probably benign Het
Syne2 A G 12: 76,097,924 D1549G probably damaging Het
Tet1 A G 10: 62,879,752 V88A possibly damaging Het
Tmem200a C T 10: 25,993,603 G256D probably damaging Het
Ttn G T 2: 76,884,491 probably benign Het
Ugt2b34 T C 5: 86,892,891 I391V probably benign Het
Zfp292 A T 4: 34,809,415 L1215I probably benign Het
Zfp410 C A 12: 84,325,776 N125K probably damaging Het
Other mutations in Cpne2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01688:Cpne2 APN 8 94554753 missense possibly damaging 0.84
IGL03277:Cpne2 APN 8 94548372 missense probably benign 0.00
R0018:Cpne2 UTSW 8 94556053 missense possibly damaging 0.93
R0018:Cpne2 UTSW 8 94556053 missense possibly damaging 0.93
R0126:Cpne2 UTSW 8 94554933 missense probably damaging 1.00
R0135:Cpne2 UTSW 8 94554925 unclassified probably benign
R0167:Cpne2 UTSW 8 94568579 unclassified probably benign
R0661:Cpne2 UTSW 8 94556039 missense possibly damaging 0.78
R0671:Cpne2 UTSW 8 94548342 start gained probably benign
R4691:Cpne2 UTSW 8 94558221 missense probably damaging 0.99
R4856:Cpne2 UTSW 8 94563964 missense probably benign 0.00
R4886:Cpne2 UTSW 8 94563964 missense probably benign 0.00
R6632:Cpne2 UTSW 8 94554955 missense probably benign 0.00
R6699:Cpne2 UTSW 8 94563959 missense probably damaging 0.99
R6968:Cpne2 UTSW 8 94548502 missense probably damaging 1.00
R7117:Cpne2 UTSW 8 94555544 missense probably damaging 1.00
R7505:Cpne2 UTSW 8 94548466 missense possibly damaging 0.90
R7571:Cpne2 UTSW 8 94551780 missense probably benign
R7583:Cpne2 UTSW 8 94555581 missense probably benign
R7612:Cpne2 UTSW 8 94557420 missense probably benign 0.01
R7745:Cpne2 UTSW 8 94568684 missense probably damaging 1.00
R7845:Cpne2 UTSW 8 94551204 missense probably benign 0.16
R7928:Cpne2 UTSW 8 94551204 missense probably benign 0.16
X0025:Cpne2 UTSW 8 94557451 missense probably damaging 1.00
Posted On2015-04-16