Incidental Mutation 'R0462:Cpne5'
ID 41435
Institutional Source Beutler Lab
Gene Symbol Cpne5
Ensembl Gene ENSMUSG00000024008
Gene Name copine V
Synonyms A830083G22Rik
MMRRC Submission 038662-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0462 (G1)
Quality Score 206
Status Not validated
Chromosome 17
Chromosomal Location 29375495-29456764 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29395163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 251 (E251G)
Ref Sequence ENSEMBL: ENSMUSP00000024805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024805]
AlphaFold Q8JZW4
Predicted Effect probably benign
Transcript: ENSMUST00000024805
AA Change: E251G

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000024805
Gene: ENSMUSG00000024008
AA Change: E251G

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 noncoding transcript
Transcript: ENSMUST00000124917
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126993
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 A T 11: 101,304,917 (GRCm39) D190E probably damaging Het
Acnat2 A G 4: 49,383,084 (GRCm39) probably null Het
Acot10 T G 15: 20,666,712 (GRCm39) T10P possibly damaging Het
Aldh7a1 T C 18: 56,667,286 (GRCm39) probably null Het
Alkbh7 G A 17: 57,305,443 (GRCm39) V87I probably benign Het
Ano2 A T 6: 125,689,238 (GRCm39) H121L probably benign Het
Apob A T 12: 8,050,896 (GRCm39) Y1040F probably damaging Het
Arhgap25 A T 6: 87,436,942 (GRCm39) V636E possibly damaging Het
Atad2b A T 12: 4,991,973 (GRCm39) T191S possibly damaging Het
Atpsckmt T C 15: 31,617,018 (GRCm39) M161T probably damaging Het
Btbd9 A T 17: 30,749,191 (GRCm39) V41D possibly damaging Het
Bzw2 G A 12: 36,174,023 (GRCm39) R25C probably damaging Het
Carmil1 T C 13: 24,206,494 (GRCm39) S1326G probably benign Het
Cdh18 A G 15: 23,366,971 (GRCm39) R226G probably damaging Het
Cdh3 A G 8: 107,282,012 (GRCm39) N800S possibly damaging Het
Cep152 A T 2: 125,425,854 (GRCm39) V837E possibly damaging Het
Cep85 G A 4: 133,858,732 (GRCm39) T713M possibly damaging Het
Chd7 T C 4: 8,850,821 (GRCm39) Y1736H probably damaging Het
Chst3 T C 10: 60,022,535 (GRCm39) E104G probably benign Het
Cic T A 7: 24,986,565 (GRCm39) S1299T probably damaging Het
Cic C A 7: 24,986,566 (GRCm39) S1299Y probably damaging Het
Cmah T A 13: 24,620,724 (GRCm39) S319R possibly damaging Het
Cnbd1 A G 4: 18,895,044 (GRCm39) F233L probably benign Het
Csf2rb2 G A 15: 78,169,373 (GRCm39) P485L probably damaging Het
Dimt1 T C 13: 107,085,264 (GRCm39) M70T possibly damaging Het
Dlk2 A G 17: 46,614,024 (GRCm39) *383W probably null Het
Dnah2 G A 11: 69,350,027 (GRCm39) R2369C probably damaging Het
Dock2 A G 11: 34,218,052 (GRCm39) F1173L possibly damaging Het
Dok7 A G 5: 35,223,806 (GRCm39) H115R possibly damaging Het
Dpy19l1 A G 9: 24,325,645 (GRCm39) I720T probably benign Het
Eps8 A T 6: 137,491,309 (GRCm39) D356E probably benign Het
Exoc1 A G 5: 76,691,464 (GRCm39) N263D probably benign Het
Fbxl3 T C 14: 103,320,322 (GRCm39) D375G probably damaging Het
Fcgbpl1 A T 7: 27,836,765 (GRCm39) D228V probably damaging Het
Flg2 A T 3: 93,108,744 (GRCm39) E257D probably benign Het
Fstl4 A G 11: 53,077,229 (GRCm39) D662G probably benign Het
Gbp10 G T 5: 105,366,390 (GRCm39) Q505K possibly damaging Het
Gemin2 C T 12: 59,060,305 (GRCm39) P15S probably damaging Het
Grhl2 A G 15: 37,344,919 (GRCm39) M514V probably benign Het
Hgs A G 11: 120,369,970 (GRCm39) N413D possibly damaging Het
Il12rb2 T C 6: 67,280,594 (GRCm39) S538G possibly damaging Het
Kdm5a A G 6: 120,379,561 (GRCm39) D623G probably damaging Het
Kifbp A T 10: 62,395,235 (GRCm39) I469N probably damaging Het
Matk G T 10: 81,095,527 (GRCm39) V116F probably damaging Het
Mcm3 T C 1: 20,875,556 (GRCm39) T694A probably benign Het
Mctp1 C A 13: 76,949,520 (GRCm39) H260Q probably damaging Het
Mios T A 6: 8,215,743 (GRCm39) I313K probably benign Het
Muc4 T A 16: 32,582,910 (GRCm39) Y2562N possibly damaging Het
Naip5 T A 13: 100,358,240 (GRCm39) I999F probably damaging Het
Or11h4 T A 14: 50,974,554 (GRCm39) I22L probably benign Het
Or14j7 A T 17: 38,234,667 (GRCm39) D70V probably damaging Het
Or1x6 A G 11: 50,939,336 (GRCm39) Y134C probably damaging Het
Or52a5 A T 7: 103,426,770 (GRCm39) S261T probably benign Het
Or7g12 A T 9: 18,900,198 (GRCm39) I305F probably benign Het
Or8g52 T A 9: 39,630,706 (GRCm39) F61Y probably benign Het
Pafah1b1 A G 11: 74,568,541 (GRCm39) V396A probably benign Het
Pard6b T A 2: 167,929,467 (GRCm39) I91N possibly damaging Het
Pdzd2 T C 15: 12,592,246 (GRCm39) S133G probably damaging Het
Plcg2 T G 8: 118,312,044 (GRCm39) S445R probably benign Het
Plekhd1 G T 12: 80,768,352 (GRCm39) V396L probably damaging Het
Ppp4r2 A G 6: 100,843,518 (GRCm39) D294G possibly damaging Het
Ppwd1 T C 13: 104,359,468 (GRCm39) probably null Het
Prr22 A G 17: 57,077,551 (GRCm39) probably benign Het
Psme4 A G 11: 30,798,117 (GRCm39) D1370G probably damaging Het
Rac3 T A 11: 120,613,684 (GRCm39) V86D probably damaging Het
Rnf207 T C 4: 152,397,829 (GRCm39) S335G possibly damaging Het
Rxfp3 A G 15: 11,037,063 (GRCm39) L103P probably damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Smpdl3a G T 10: 57,670,827 (GRCm39) C17F probably benign Het
Spaca7b T A 8: 11,711,749 (GRCm39) probably benign Het
Spata31g1 T A 4: 42,973,429 (GRCm39) F921I probably benign Het
Spen A T 4: 141,200,962 (GRCm39) I2555N probably damaging Het
Srpk2 G T 5: 23,723,424 (GRCm39) T564K probably damaging Het
Stard4 C T 18: 33,338,202 (GRCm39) R116H probably damaging Het
Supt7l A T 5: 31,677,640 (GRCm39) S175R probably damaging Het
Sycp1 A T 3: 102,726,422 (GRCm39) Y932N possibly damaging Het
Tas2r122 T C 6: 132,688,141 (GRCm39) M251V probably benign Het
Tbx15 A T 3: 99,223,634 (GRCm39) E274V probably damaging Het
Tex52 A G 6: 128,361,917 (GRCm39) E298G probably benign Het
Tmem101 T C 11: 102,046,693 (GRCm39) M59V probably benign Het
Tmem132b T C 5: 125,862,990 (GRCm39) V665A probably damaging Het
Trim23 T C 13: 104,334,541 (GRCm39) V347A probably damaging Het
Ush2a A G 1: 188,643,136 (GRCm39) H4166R probably benign Het
Vmn2r101 G T 17: 19,810,431 (GRCm39) V406L probably benign Het
Vrk3 A G 7: 44,413,624 (GRCm39) D166G possibly damaging Het
Washc4 T A 10: 83,392,777 (GRCm39) M259K probably benign Het
Wdr70 T C 15: 8,108,645 (GRCm39) D167G probably benign Het
Zfp1005 A G 2: 150,111,122 (GRCm39) E604G possibly damaging Het
Zfp28 A T 7: 6,395,239 (GRCm39) Q248L possibly damaging Het
Zfp39 A G 11: 58,781,232 (GRCm39) I510T probably benign Het
Zfp710 T A 7: 79,740,089 (GRCm39) *646R probably null Het
Zfp90 C T 8: 107,151,892 (GRCm39) S535L possibly damaging Het
Zfp949 C T 9: 88,450,787 (GRCm39) T119I 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
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
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'- ATGGTGAGCCTCTGCTGAACTGTG -3'
(R):5'- GCCTCTGCCCCTAAGACCTTAAAAG -3'

Sequencing Primer
(F):5'- GGCATTTCAGAGCATTCCCAG -3'
(R):5'- TTTGCATGGCATCCTTCCTG -3'
Posted On 2013-05-23