Incidental Mutation 'R7787:Cpne5'
ID 628600
Institutional Source Beutler Lab
Gene Symbol Cpne5
Ensembl Gene ENSMUSG00000024008
Gene Name copine V
Synonyms A830083G22Rik
MMRRC Submission 045843-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7787 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 29375495-29456764 bp(-) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) A to T at 29407261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000024805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024805] [ENSMUST00000137727]
AlphaFold Q8JZW4
Predicted Effect probably null
Transcript: ENSMUST00000024805
SMART Domains Protein: ENSMUSP00000024805
Gene: ENSMUSG00000024008

DomainStartEndE-ValueType
C2 23 131 2.09e-9 SMART
C2 161 283 1.88e-11 SMART
low complexity region 290 297 N/A INTRINSIC
VWA 326 519 1.52e-13 SMART
low complexity region 564 588 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137727
SMART Domains Protein: ENSMUSP00000117982
Gene: ENSMUSG00000024008

DomainStartEndE-ValueType
C2 23 131 2.09e-9 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (74/74)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik T A 7: 27,263,926 (GRCm39) I38N probably damaging Het
Abcb4 G A 5: 8,959,220 (GRCm39) V216M probably damaging Het
Abcc2 G A 19: 43,772,685 (GRCm39) V32M probably damaging Het
Adgrb3 C A 1: 25,471,625 (GRCm39) V714F probably damaging Het
Ahnak T A 19: 8,986,679 (GRCm39) D2654E unknown Het
Ak8 T A 2: 28,602,324 (GRCm39) I86N probably damaging Het
Apob G A 12: 8,040,780 (GRCm39) R635Q probably damaging Het
Atp10b G A 11: 43,150,700 (GRCm39) R1466H possibly damaging Het
Bltp1 A C 3: 36,939,557 (GRCm39) H137P probably damaging Het
Btnl9 T C 11: 49,066,866 (GRCm39) T252A unknown Het
Cacna1e T A 1: 154,358,314 (GRCm39) I648F probably damaging Het
Camkk1 A G 11: 72,917,412 (GRCm39) D121G probably benign Het
Cc2d1a C A 8: 84,860,144 (GRCm39) Q904H possibly damaging Het
Cd1d1 A G 3: 86,904,903 (GRCm39) S212P probably damaging Het
Cfap69 C T 5: 5,639,260 (GRCm39) C638Y probably damaging Het
Cilk1 G C 9: 78,074,902 (GRCm39) V586L probably benign Het
Clca4a A G 3: 144,659,594 (GRCm39) V754A probably benign Het
Cnpy4 T A 5: 138,190,900 (GRCm39) H187Q probably benign Het
Crnkl1 A T 2: 145,767,515 (GRCm39) N359K probably benign Het
Cyb561 A T 11: 105,828,466 (GRCm39) L63H probably damaging Het
Dock4 A G 12: 40,775,676 (GRCm39) T540A probably benign Het
Edc4 T A 8: 106,614,146 (GRCm39) Y7* probably null Het
Fstl5 A C 3: 76,337,131 (GRCm39) D230A probably damaging Het
Fthl17b C T X: 8,829,043 (GRCm39) R9Q possibly damaging Het
Fthl17b C T X: 8,829,047 (GRCm39) V8M possibly damaging Het
H2bw2 G A X: 135,828,471 (GRCm39) R120K unknown Het
Hecw1 T C 13: 14,493,494 (GRCm39) Q337R probably damaging Het
Hmcn1 A T 1: 150,632,343 (GRCm39) Y865N probably damaging Het
Hyal6 A G 6: 24,743,735 (GRCm39) Y477C probably damaging Het
Ifi205 C T 1: 173,842,640 (GRCm39) G352E probably damaging Het
Ifi205 T A 1: 173,842,644 (GRCm39) S351C probably damaging Het
Irak3 C A 10: 120,012,256 (GRCm39) Q169H probably benign Het
Itgb1 T A 8: 129,453,499 (GRCm39) N99K probably benign Het
Kng2 A G 16: 22,818,598 (GRCm39) F298S probably damaging Het
Kri1 T C 9: 21,192,380 (GRCm39) E256G Het
Lamc3 T C 2: 31,790,551 (GRCm39) I257T probably damaging Het
Mas1 A C 17: 13,061,374 (GRCm39) N16K possibly damaging Het
Mdn1 T A 4: 32,741,794 (GRCm39) L3855Q probably damaging Het
Muc4 C G 16: 32,575,221 (GRCm39) Q1269E probably benign Het
Mybph G A 1: 134,125,246 (GRCm39) G258D probably benign Het
Mycbp2 A C 14: 103,364,533 (GRCm39) H4358Q probably damaging Het
Nat10 T C 2: 103,552,208 (GRCm39) D1012G unknown Het
Nub1 C A 5: 24,913,801 (GRCm39) Q561K probably benign Het
Nynrin A G 14: 56,107,980 (GRCm39) N1029S probably benign Het
Or52x1 A T 7: 104,853,252 (GRCm39) C99* probably null Het
Or56a4 T G 7: 104,806,401 (GRCm39) I163L probably benign Het
Or5k15 A G 16: 58,709,953 (GRCm39) F210S probably benign Het
Or6e1 A G 14: 54,520,169 (GRCm39) L61P probably damaging Het
Or8g19 C T 9: 39,055,548 (GRCm39) L51F probably benign Het
Pcsk1 T A 13: 75,280,277 (GRCm39) Y701N possibly damaging Het
Pglyrp4 C G 3: 90,640,295 (GRCm39) H182D probably damaging Het
Phaf1 T G 8: 105,957,820 (GRCm39) V42G probably damaging Het
Pkp4 C A 2: 59,152,881 (GRCm39) D576E probably damaging Het
Plec A G 15: 76,083,811 (GRCm39) V17A unknown Het
Polq T A 16: 36,837,671 (GRCm39) N194K probably damaging Het
Pou4f1 A T 14: 104,703,460 (GRCm39) M324K unknown Het
Ppa2 G T 3: 133,036,259 (GRCm39) G138W probably damaging Het
Prob1 A T 18: 35,785,285 (GRCm39) F990I possibly damaging Het
Proser1 T A 3: 53,380,969 (GRCm39) I182N probably damaging Het
Sgk3 T C 1: 9,952,016 (GRCm39) L214P probably damaging Het
Sipa1l1 T C 12: 82,496,762 (GRCm39) S1765P possibly damaging Het
Slc15a2 G A 16: 36,572,228 (GRCm39) S712L probably benign Het
Slc38a9 T C 13: 112,825,880 (GRCm39) L106P probably damaging Het
Slc43a2 G A 11: 75,453,900 (GRCm39) R271H probably damaging Het
Spsb4 T A 9: 96,877,643 (GRCm39) I227F probably damaging Het
Srgap3 C T 6: 112,752,520 (GRCm39) M321I probably benign Het
Stam2 T C 2: 52,596,418 (GRCm39) I340V probably benign Het
Tbc1d5 T A 17: 51,181,711 (GRCm39) R341* probably null Het
Terf2ip A C 8: 112,742,087 (GRCm39) E260D probably damaging Het
Tert G T 13: 73,797,051 (GRCm39) K1096N probably damaging Het
Ttc32 T A 12: 9,088,083 (GRCm39) D103E probably benign Het
Ube3d T A 9: 86,254,395 (GRCm39) Q362L possibly damaging Het
Unc5c G A 3: 141,474,313 (GRCm39) G295D probably damaging Het
Wnt7b T A 15: 85,428,112 (GRCm39) I117F probably damaging Het
Zcchc7 T C 4: 44,895,043 (GRCm39) probably null Het
Zfp619 A G 7: 39,186,226 (GRCm39) Q752R possibly damaging Het
Zkscan3 T C 13: 21,572,034 (GRCm39) K533E possibly damaging Het
Other mutations in Cpne5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02626:Cpne5 APN 17 29,379,311 (GRCm39) missense probably damaging 1.00
R0329:Cpne5 UTSW 17 29,430,634 (GRCm39) missense probably damaging 1.00
R0330:Cpne5 UTSW 17 29,430,634 (GRCm39) missense probably damaging 1.00
R0462:Cpne5 UTSW 17 29,395,163 (GRCm39) missense probably benign 0.12
R0699:Cpne5 UTSW 17 29,428,667 (GRCm39) missense probably damaging 1.00
R0891:Cpne5 UTSW 17 29,421,893 (GRCm39) splice site probably benign
R1872:Cpne5 UTSW 17 29,423,667 (GRCm39) missense probably benign 0.12
R2167:Cpne5 UTSW 17 29,381,306 (GRCm39) missense probably damaging 1.00
R3901:Cpne5 UTSW 17 29,378,082 (GRCm39) missense unknown
R4037:Cpne5 UTSW 17 29,378,087 (GRCm39) missense unknown
R4478:Cpne5 UTSW 17 29,428,450 (GRCm39) missense probably damaging 0.99
R4588:Cpne5 UTSW 17 29,383,687 (GRCm39) missense probably benign 0.10
R4853:Cpne5 UTSW 17 29,380,172 (GRCm39) missense probably benign 0.01
R5630:Cpne5 UTSW 17 29,445,190 (GRCm39) missense probably damaging 1.00
R5686:Cpne5 UTSW 17 29,402,991 (GRCm39) missense possibly damaging 0.83
R7019:Cpne5 UTSW 17 29,445,196 (GRCm39) missense probably damaging 1.00
R7086:Cpne5 UTSW 17 29,378,051 (GRCm39) missense unknown
R7472:Cpne5 UTSW 17 29,423,714 (GRCm39) missense probably benign 0.02
R7596:Cpne5 UTSW 17 29,445,191 (GRCm39) missense possibly damaging 0.90
R7649:Cpne5 UTSW 17 29,445,172 (GRCm39) missense probably damaging 1.00
R8406:Cpne5 UTSW 17 29,428,455 (GRCm39) missense probably benign 0.00
R8444:Cpne5 UTSW 17 29,407,357 (GRCm39) missense probably benign 0.07
R8795:Cpne5 UTSW 17 29,423,662 (GRCm39) critical splice donor site probably benign
R8821:Cpne5 UTSW 17 29,430,668 (GRCm39) missense probably benign 0.00
R9049:Cpne5 UTSW 17 29,379,332 (GRCm39) missense probably damaging 1.00
R9072:Cpne5 UTSW 17 29,430,677 (GRCm39) missense probably damaging 0.99
R9091:Cpne5 UTSW 17 29,444,163 (GRCm39) critical splice donor site probably null
R9270:Cpne5 UTSW 17 29,444,163 (GRCm39) critical splice donor site probably null
R9334:Cpne5 UTSW 17 29,423,673 (GRCm39) missense probably benign 0.04
R9600:Cpne5 UTSW 17 29,380,520 (GRCm39) missense probably damaging 1.00
Z1177:Cpne5 UTSW 17 29,378,156 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAAGCTTTTCTGCCCTAGC -3'
(R):5'- TAGGAGGCTTGTACCAGGTG -3'

Sequencing Primer
(F):5'- TAGCCCTGTTTTCTACTCCCTAGGG -3'
(R):5'- ACCAGGTGTACTTATAATGCTACCC -3'
Posted On 2020-05-18