Incidental Mutation 'IGL02992:Cpne3'
ID406980
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpne3
Ensembl Gene ENSMUSG00000028228
Gene Namecopine III
Synonyms5730450C07Rik, 5430428M23Rik, PRO1071, CPN3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.176) question?
Stock #IGL02992
Quality Score
Status
Chromosome4
Chromosomal Location19519254-19570108 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 19532486 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 309 (D309G)
Ref Sequence ENSEMBL: ENSMUSP00000029885 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029885]
Predicted Effect probably benign
Transcript: ENSMUST00000029885
AA Change: D309G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029885
Gene: ENSMUSG00000028228
AA Change: D309G

DomainStartEndE-ValueType
C2 7 114 1.06e-10 SMART
C2 139 245 9.53e-13 SMART
low complexity region 253 262 N/A INTRINSIC
VWA 289 495 7.54e-18 SMART
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310035C23Rik T A 1: 105,719,464 L684M possibly damaging Het
Abca4 A G 3: 122,128,286 K1164E probably damaging Het
Arhgap42 G A 9: 8,998,248 probably benign Het
Arhgef12 T C 9: 42,999,077 D612G probably damaging Het
Daw1 T C 1: 83,197,213 probably benign Het
Daxx T A 17: 33,911,748 C246S probably damaging Het
Dpp7 T C 2: 25,354,577 D264G possibly damaging Het
Dync2h1 T A 9: 7,137,074 H1472L probably benign Het
Fastkd2 T C 1: 63,737,924 probably benign Het
Fcrls T G 3: 87,259,466 R73S probably damaging Het
Gatb A G 3: 85,618,916 D367G probably damaging Het
Gm20547 T A 17: 34,857,119 E654V probably damaging Het
Gm839 T A 6: 89,212,527 noncoding transcript Het
Gtf2ird2 A T 5: 134,217,614 M905L possibly damaging Het
Hoxb2 A T 11: 96,353,084 I174F probably damaging Het
Hrh3 A G 2: 180,100,815 V308A probably benign Het
Ints9 A G 14: 64,980,164 K47E probably benign Het
Irak3 A T 10: 120,182,661 Y61N probably damaging Het
Itpr1 A G 6: 108,381,315 E614G probably damaging Het
Lgals3 A T 14: 47,385,525 I214L probably benign Het
Msh4 G T 3: 153,872,325 T444K possibly damaging Het
Myh7b C A 2: 155,621,410 Q521K probably damaging Het
Naip5 T A 13: 100,223,028 I567F probably damaging Het
Nf1 A G 11: 79,434,933 probably benign Het
Nlrc3 C T 16: 3,954,023 probably benign Het
Nlrc5 A C 8: 94,506,573 E1353A possibly damaging Het
Nr1h3 T A 2: 91,190,566 I260F probably damaging Het
Pcnx G A 12: 81,964,120 R1211Q probably damaging Het
Pde10a A G 17: 8,949,461 K605E probably damaging Het
Pdzd2 T C 15: 12,382,622 E1215G possibly damaging Het
Pex12 A G 11: 83,297,927 S81P probably damaging Het
Pik3c2b C A 1: 133,066,980 Y227* probably null Het
Ppef2 C T 5: 92,235,900 W450* probably null Het
Prkg2 T G 5: 99,024,506 S117R probably benign Het
Prl3d2 A T 13: 27,127,283 E179D probably benign Het
Rxfp2 T C 5: 150,051,556 V210A probably benign Het
Scn10a T C 9: 119,609,560 T1748A possibly damaging Het
Sept10 T C 10: 59,192,178 N107S possibly damaging Het
Smu1 T A 4: 40,739,550 N420I probably damaging Het
Sos1 A G 17: 80,419,016 F835L probably benign Het
Spg11 T C 2: 122,058,398 D2164G probably damaging Het
Svbp A G 4: 119,195,930 E8G probably damaging Het
Tgm3 T A 2: 130,041,979 M519K probably damaging Het
Tspan12 A G 6: 21,799,877 probably null Het
Vps52 T C 17: 33,958,350 V122A probably damaging Het
Wipf1 T C 2: 73,434,083 Y458C probably damaging Het
Zfp369 T A 13: 65,294,451 D286E possibly damaging Het
Other mutations in Cpne3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01131:Cpne3 APN 4 19543318 missense probably damaging 1.00
IGL01325:Cpne3 APN 4 19535229 missense probably benign 0.00
IGL01467:Cpne3 APN 4 19553737 missense probably benign
IGL02043:Cpne3 APN 4 19543340 splice site probably null
IGL03330:Cpne3 APN 4 19553774 missense possibly damaging 0.63
LCD18:Cpne3 UTSW 4 19563382 intron probably benign
R0507:Cpne3 UTSW 4 19532544 splice site probably benign
R0652:Cpne3 UTSW 4 19532486 missense probably benign
R1499:Cpne3 UTSW 4 19526336 missense probably damaging 1.00
R1881:Cpne3 UTSW 4 19535266 missense probably benign 0.03
R2007:Cpne3 UTSW 4 19553833 missense probably damaging 1.00
R2147:Cpne3 UTSW 4 19536562 missense probably benign
R2507:Cpne3 UTSW 4 19553871 missense probably damaging 1.00
R4525:Cpne3 UTSW 4 19523206 missense probably damaging 1.00
R4880:Cpne3 UTSW 4 19540827 missense probably benign
R5219:Cpne3 UTSW 4 19526366 missense probably damaging 1.00
R5518:Cpne3 UTSW 4 19553779 missense probably benign 0.10
R5883:Cpne3 UTSW 4 19552314 missense possibly damaging 0.67
R6850:Cpne3 UTSW 4 19535231 missense possibly damaging 0.91
R6979:Cpne3 UTSW 4 19533098 missense probably benign 0.01
R7395:Cpne3 UTSW 4 19528239 missense probably damaging 0.96
R7948:Cpne3 UTSW 4 19528186 critical splice donor site probably null
R8002:Cpne3 UTSW 4 19528232 missense probably damaging 0.99
R8056:Cpne3 UTSW 4 19532426 missense possibly damaging 0.60
Posted On2016-08-02