Incidental Mutation 'R9072:Cpne5'
ID 700837
Institutional Source Beutler Lab
Gene Symbol Cpne5
Ensembl Gene ENSMUSG00000024008
Gene Name copine V
Synonyms A830083G22Rik
MMRRC Submission 068894-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9072 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 29375495-29456764 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 29430677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 78 (R78C)
Ref Sequence ENSEMBL: ENSMUSP00000024805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024805] [ENSMUST00000137727]
AlphaFold Q8JZW4
Predicted Effect probably damaging
Transcript: ENSMUST00000024805
AA Change: R78C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000024805
Gene: ENSMUSG00000024008
AA Change: R78C

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 damaging
Transcript: ENSMUST00000137727
AA Change: R78C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117982
Gene: ENSMUSG00000024008
AA Change: R78C

DomainStartEndE-ValueType
C2 23 131 2.09e-9 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (63/63)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A C 11: 9,240,834 (GRCm39) E899A possibly damaging Het
Best2 T A 8: 85,737,418 (GRCm39) I230F probably damaging Het
C2cd2 T C 16: 97,676,403 (GRCm39) E448G probably damaging Het
C2cd3 T G 7: 100,040,291 (GRCm39) S287A probably benign Het
Camta2 G A 11: 70,567,234 (GRCm39) P677S probably benign Het
Cand2 C T 6: 115,769,490 (GRCm39) R767C probably damaging Het
Celsr3 G A 9: 108,704,293 (GRCm39) E259K probably benign Het
Cep250 C G 2: 155,834,035 (GRCm39) Q1987E probably benign Het
Chn1 T C 2: 73,443,430 (GRCm39) D440G probably benign Het
Cmbl A T 15: 31,585,449 (GRCm39) D111V possibly damaging Het
Col5a3 T A 9: 20,682,453 (GRCm39) I1664F unknown Het
Cp T C 3: 20,033,158 (GRCm39) S662P possibly damaging Het
Cst5 A G 2: 149,249,261 (GRCm39) T104A probably benign Het
Cyp11b2 A G 15: 74,725,662 (GRCm39) F195S possibly damaging Het
Dcaf17 T C 2: 70,920,136 (GRCm39) Y475H probably benign Het
Edem2 G C 2: 155,571,212 (GRCm39) L16V unknown Het
Eeig1 A G 2: 32,455,674 (GRCm39) S267G probably benign Het
Ext2 A G 2: 93,644,144 (GRCm39) W46R probably benign Het
Gal3st3 T A 19: 5,352,605 (GRCm39) S11T probably benign Het
Garin5b A T 7: 4,762,253 (GRCm39) H265Q Het
Gfi1 T A 5: 107,865,725 (GRCm39) I451F possibly damaging Het
Gfpt2 T C 11: 49,714,185 (GRCm39) L314P probably damaging Het
Gm3250 A T 10: 77,618,127 (GRCm39) C84S unknown Het
Hmcn1 A T 1: 150,565,320 (GRCm39) V2269E probably benign Het
Ighv1-55 T C 12: 115,172,013 (GRCm39) H18R probably benign Het
Iqgap3 G A 3: 87,998,883 (GRCm39) G328E probably benign Het
Klf6 G T 13: 5,917,233 (GRCm39) C303F probably benign Het
Klhl35 A T 7: 99,122,129 (GRCm39) S77C probably damaging Het
Ktn1 T G 14: 47,941,694 (GRCm39) V822G probably benign Het
Lbhd2 G T 12: 111,375,040 (GRCm39) G21W probably damaging Het
Lrp1b G A 2: 40,615,457 (GRCm39) R3649* probably null Het
Map2 C A 1: 66,453,312 (GRCm39) T734N probably damaging Het
Mas1 A G 17: 13,060,839 (GRCm39) F195L possibly damaging Het
Med1 A T 11: 98,080,009 (GRCm39) M44K possibly damaging Het
Morc3 T C 16: 93,667,482 (GRCm39) V620A probably benign Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Naip2 C T 13: 100,291,459 (GRCm39) D1160N probably benign Het
Nucb2 T A 7: 116,125,631 (GRCm39) I159N probably damaging Het
Olfm5 A G 7: 103,802,984 (GRCm39) L493P probably benign Het
Or1e1 T G 11: 73,244,797 (GRCm39) F73V probably damaging Het
Or2ag15 A T 7: 106,340,759 (GRCm39) C127* probably null Het
Or56b1 C T 7: 104,285,291 (GRCm39) R137C probably benign Het
Pcdhb22 T A 18: 37,651,813 (GRCm39) C94S probably damaging Het
Pcdhga5 A G 18: 37,829,537 (GRCm39) I662V probably benign Het
Plcb2 G A 2: 118,547,878 (GRCm39) T472M possibly damaging Het
Plcb4 A G 2: 135,849,795 (GRCm39) E1142G possibly damaging Het
Pmm1 C T 15: 81,839,896 (GRCm39) R143H probably damaging Het
Polr2l T C 7: 141,053,285 (GRCm39) Y43C probably damaging Het
Prkcb T A 7: 122,127,771 (GRCm39) N298K probably benign Het
Ptar1 T A 19: 23,695,414 (GRCm39) C294S probably benign Het
Ptprq T C 10: 107,401,736 (GRCm39) I1919V Het
Slc25a18 C T 6: 120,769,022 (GRCm39) R180C probably benign Het
Slc27a3 A C 3: 90,295,768 (GRCm39) S285R probably damaging Het
Smg1 C T 7: 117,783,032 (GRCm39) V1092I unknown Het
Spata19 T G 9: 27,309,024 (GRCm39) I54R possibly damaging Het
St6galnac5 T C 3: 152,551,956 (GRCm39) T204A probably benign Het
Tdpoz8 T A 3: 92,981,341 (GRCm39) C46S probably benign Het
Trpc3 T C 3: 36,694,831 (GRCm39) I708V probably benign Het
Ttn T C 2: 76,775,183 (GRCm39) E1999G unknown Het
Ube3b C T 5: 114,542,607 (GRCm39) T488M probably damaging Het
Vmn1r235 A T 17: 21,482,271 (GRCm39) I199F probably benign Het
Vsig8 A T 1: 172,388,340 (GRCm39) N215Y possibly damaging Het
Wapl A G 14: 34,399,417 (GRCm39) K162R possibly damaging Het
Wdpcp A G 11: 21,614,014 (GRCm39) T60A probably benign Het
Wdr26 A T 1: 181,010,351 (GRCm39) I566N probably damaging Het
Wdr46 C T 17: 34,163,555 (GRCm39) T371M probably benign Het
Zdbf2 T C 1: 63,344,923 (GRCm39) S1101P 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
R7787:Cpne5 UTSW 17 29,407,261 (GRCm39) splice site probably null
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
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'- ATTTCCCACACCCTAGCAGG -3'
(R):5'- TTTTCACGCCTGTAGGAGG -3'

Sequencing Primer
(F):5'- CAGGGCTGGGGTAGATGTCATC -3'
(R):5'- GCAGAGCCCAGCGTGTG -3'
Posted On 2022-02-07