Incidental Mutation 'R1538:Cpne6'
ID 169736
Institutional Source Beutler Lab
Gene Symbol Cpne6
Ensembl Gene ENSMUSG00000022212
Gene Name copine VI
Synonyms neuronal copine
MMRRC Submission 039577-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.338) question?
Stock # R1538 (G1)
Quality Score 212
Status Not validated
Chromosome 14
Chromosomal Location 55747902-55754888 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55752677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 289 (V289A)
Ref Sequence ENSEMBL: ENSMUSP00000128555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062232] [ENSMUST00000074225] [ENSMUST00000111404] [ENSMUST00000163767] [ENSMUST00000165262] [ENSMUST00000165725] [ENSMUST00000171643] [ENSMUST00000178694]
AlphaFold Q9Z140
Predicted Effect probably benign
Transcript: ENSMUST00000062232
SMART Domains Protein: ENSMUSP00000054457
Gene: ENSMUSG00000040632

DomainStartEndE-ValueType
low complexity region 41 54 N/A INTRINSIC
Pfam:Maf_N 67 101 7.3e-18 PFAM
BRLZ 157 221 1.6e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000074225
AA Change: V289A

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000073847
Gene: ENSMUSG00000022212
AA Change: V289A

DomainStartEndE-ValueType
C2 21 126 6.65e-3 SMART
C2 155 258 7.51e-11 SMART
VWA 304 506 4.37e-14 SMART
low complexity region 543 557 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111404
SMART Domains Protein: ENSMUSP00000107035
Gene: ENSMUSG00000040632

DomainStartEndE-ValueType
low complexity region 41 54 N/A INTRINSIC
Pfam:Maf_N 67 102 2e-15 PFAM
BRLZ 157 221 1.6e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000163767
AA Change: V289A

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126493
Gene: ENSMUSG00000022212
AA Change: V289A

DomainStartEndE-ValueType
C2 21 126 6.65e-3 SMART
C2 155 258 7.51e-11 SMART
VWA 304 506 4.37e-14 SMART
low complexity region 543 557 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000165262
AA Change: V289A

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000132999
Gene: ENSMUSG00000022212
AA Change: V289A

DomainStartEndE-ValueType
C2 21 126 6.65e-3 SMART
C2 155 258 7.51e-11 SMART
VWA 304 505 2.34e-14 SMART
low complexity region 542 556 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165725
SMART Domains Protein: ENSMUSP00000130799
Gene: ENSMUSG00000022212

DomainStartEndE-ValueType
C2 21 126 1.22e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169869
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170155
Predicted Effect possibly damaging
Transcript: ENSMUST00000171643
AA Change: V289A

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128555
Gene: ENSMUSG00000022212
AA Change: V289A

DomainStartEndE-ValueType
C2 21 126 6.65e-3 SMART
C2 155 258 7.51e-11 SMART
VWA 304 506 4.37e-14 SMART
low complexity region 543 557 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178694
SMART Domains Protein: ENSMUSP00000136445
Gene: ENSMUSG00000040632

DomainStartEndE-ValueType
low complexity region 41 54 N/A INTRINSIC
Pfam:Maf_N 67 102 2e-15 PFAM
BRLZ 157 221 1.6e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228351
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.6%
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. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Allele List at MGI
Other mutations in this stock
Total: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G T 3: 137,771,162 (GRCm39) R117L probably benign Het
4930447C04Rik G A 12: 72,928,120 (GRCm39) A537V possibly damaging Het
4930579F01Rik A C 3: 137,889,517 (GRCm39) D33E probably damaging Het
Acnat1 T C 4: 49,447,835 (GRCm39) K249E possibly damaging Het
Ankrd13a T C 5: 114,942,295 (GRCm39) I526T possibly damaging Het
Aplp1 C A 7: 30,135,452 (GRCm39) E535D probably benign Het
Armc8 T A 9: 99,387,343 (GRCm39) H425L probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Asprv1 C T 6: 86,605,618 (GRCm39) Q155* probably null Het
Atl1 A G 12: 69,972,962 (GRCm39) Q94R probably benign Het
Atp2a2 A G 5: 122,595,440 (GRCm39) L970P probably damaging Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
Bod1l A G 5: 41,973,772 (GRCm39) M2514T probably benign Het
Cacfd1 T A 2: 26,908,951 (GRCm39) D97E probably benign Het
Cacna1e A G 1: 154,437,504 (GRCm39) L344P probably damaging Het
Cacna2d2 C A 9: 107,394,615 (GRCm39) R596S probably damaging Het
Catip C A 1: 74,403,811 (GRCm39) S176* probably null Het
Cdcp1 G A 9: 123,002,653 (GRCm39) S806L probably damaging Het
Cdk6 A T 5: 3,570,675 (GRCm39) I289L probably benign Het
Cers3 C T 7: 66,431,571 (GRCm39) T182I probably damaging Het
Cfap46 T A 7: 139,262,924 (GRCm39) N43I probably null Het
Clec4n A T 6: 123,206,992 (GRCm39) R5S possibly damaging Het
Cnr2 G T 4: 135,644,012 (GRCm39) S30I probably benign Het
Col18a1 C T 10: 76,907,170 (GRCm39) G870E probably damaging Het
Crym G A 7: 119,796,938 (GRCm39) L141F probably benign Het
Cxxc5 T C 18: 35,991,622 (GRCm39) S8P unknown Het
Dido1 A C 2: 180,326,763 (GRCm39) S453R possibly damaging Het
Dnah2 A C 11: 69,368,028 (GRCm39) S1770R probably benign Het
Dnah7a A G 1: 53,535,148 (GRCm39) V2704A possibly damaging Het
Eml5 T C 12: 98,760,535 (GRCm39) N1738S probably damaging Het
Eri3 A G 4: 117,439,836 (GRCm39) T138A possibly damaging Het
Ext2 C T 2: 93,537,632 (GRCm39) E585K probably damaging Het
Fbxw19 T A 9: 109,324,056 (GRCm39) S38C probably damaging Het
Fcgbpl1 A T 7: 27,854,917 (GRCm39) I1848F probably damaging Het
Fmo6 G A 1: 162,753,675 (GRCm39) P156S probably damaging Het
Frem3 A T 8: 81,339,764 (GRCm39) I686F probably benign Het
Frem3 T C 8: 81,339,339 (GRCm39) L544P probably damaging Het
Gabra1 T C 11: 42,031,177 (GRCm39) Y251C probably benign Het
Gemin4 G T 11: 76,101,987 (GRCm39) Q925K probably benign Het
Gm18856 T A 13: 14,139,274 (GRCm39) probably benign Het
Gnb1 A T 4: 155,636,171 (GRCm39) T164S probably benign Het
Gpx6 A G 13: 21,497,822 (GRCm39) D31G possibly damaging Het
Gzmd A C 14: 56,367,802 (GRCm39) I157S probably benign Het
Il31ra T A 13: 112,684,000 (GRCm39) N43I possibly damaging Het
Irak3 T C 10: 120,001,035 (GRCm39) T297A probably benign Het
Kank2 T C 9: 21,685,927 (GRCm39) D649G probably damaging Het
Kif3b AGAGGAGGAGGAGGAGG AGAGGAGGAGGAGG 2: 153,159,382 (GRCm39) probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Klhl18 A G 9: 110,275,815 (GRCm39) F111S probably damaging Het
Lratd2 A G 15: 60,695,498 (GRCm39) C83R probably damaging Het
Lrp5 A G 19: 3,697,585 (GRCm39) S319P possibly damaging Het
Mettl15 T C 2: 108,962,010 (GRCm39) probably null Het
Mtarc1 T C 1: 184,534,199 (GRCm39) E223G probably damaging Het
Ncoa1 T C 12: 4,320,748 (GRCm39) Q1107R possibly damaging Het
Ncoa7 T G 10: 30,570,207 (GRCm39) M251L probably damaging Het
Nos2 A T 11: 78,847,396 (GRCm39) M1023L probably benign Het
Nup107 T C 10: 117,626,399 (GRCm39) K25E probably damaging Het
Or10q1b A T 19: 13,682,860 (GRCm39) Y223F probably damaging Het
Or52s1b A G 7: 102,822,193 (GRCm39) I217T probably damaging Het
Or5k14 T A 16: 58,693,261 (GRCm39) N84I probably damaging Het
Or5p58 T A 7: 107,694,493 (GRCm39) I95F probably damaging Het
Or6b6 A T 7: 106,571,190 (GRCm39) Y120* probably null Het
Or6c206 T C 10: 129,097,082 (GRCm39) I84T probably damaging Het
Parm1 G A 5: 91,742,306 (GRCm39) E225K possibly damaging Het
Pdzd2 A C 15: 12,373,047 (GRCm39) S2363A probably damaging Het
Piezo1 A G 8: 123,218,142 (GRCm39) L1199P probably damaging Het
Prpsap1 A T 11: 116,370,534 (GRCm39) M141K probably benign Het
Prss29 A T 17: 25,539,257 (GRCm39) M1L possibly damaging Het
Pter T A 2: 12,983,417 (GRCm39) S141T probably benign Het
Ptpru A T 4: 131,501,662 (GRCm39) D1181E probably damaging Het
Rab3ip T A 10: 116,775,159 (GRCm39) Q66H probably damaging Het
Rgs12 A T 5: 35,178,511 (GRCm39) T779S probably damaging Het
Rgs22 A G 15: 36,048,922 (GRCm39) F786S probably damaging Het
Rnasel A T 1: 153,636,540 (GRCm39) D640V possibly damaging Het
Rp1 T C 1: 4,415,899 (GRCm39) T1738A probably damaging Het
Sacs T C 14: 61,447,508 (GRCm39) S3185P probably damaging Het
Scnn1a T A 6: 125,315,856 (GRCm39) D321E possibly damaging Het
Sec31b G C 19: 44,507,025 (GRCm39) L1014V probably benign Het
Serpinb10 A G 1: 107,468,690 (GRCm39) Y111C probably damaging Het
Shld2 C G 14: 33,990,833 (GRCm39) Q24H probably damaging Het
Siglecg A G 7: 43,067,313 (GRCm39) K627E possibly damaging Het
Sigmar1 T C 4: 41,740,845 (GRCm39) I95V probably benign Het
Sirpb1b T A 3: 15,613,819 (GRCm39) T88S possibly damaging Het
Spire2 T G 8: 124,084,895 (GRCm39) L245R probably damaging Het
Stard9 C A 2: 120,527,192 (GRCm39) P1150T probably benign Het
Stat6 C A 10: 127,489,125 (GRCm39) T380N probably damaging Het
Sult3a1 G A 10: 33,746,166 (GRCm39) G162E probably benign Het
Surf4 T C 2: 26,823,710 (GRCm39) probably null Het
Tacc2 T C 7: 130,227,149 (GRCm39) M1278T probably benign Het
Tacr2 T A 10: 62,097,106 (GRCm39) probably null Het
Tcaf1 A T 6: 42,655,923 (GRCm39) V351E probably damaging Het
Tmcc2 A G 1: 132,308,718 (GRCm39) S59P probably damaging Het
Tmem17 G A 11: 22,467,266 (GRCm39) S60N possibly damaging Het
Tmem63b C G 17: 45,989,904 (GRCm39) R88P possibly damaging Het
Tmprss7 A T 16: 45,499,753 (GRCm39) I307N probably benign Het
Treml2 A T 17: 48,609,786 (GRCm39) T73S possibly damaging Het
Trrap A G 5: 144,774,012 (GRCm39) H2876R possibly damaging Het
Tyw3 A G 3: 154,302,506 (GRCm39) I53T probably damaging Het
Ugp2 A G 11: 21,283,791 (GRCm39) I92T possibly damaging Het
Vmn2r66 A T 7: 84,644,166 (GRCm39) M748K possibly damaging Het
Vmn2r82 T C 10: 79,192,578 (GRCm39) S52P possibly damaging Het
Wdr37 A T 13: 8,886,828 (GRCm39) S320T probably benign Het
Zbtb16 A T 9: 48,743,583 (GRCm39) M243K probably benign Het
Zfr C T 15: 12,150,329 (GRCm39) T432I possibly damaging Het
Other mutations in Cpne6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01064:Cpne6 APN 14 55,750,187 (GRCm39) missense probably damaging 1.00
IGL01306:Cpne6 APN 14 55,752,706 (GRCm39) missense probably damaging 1.00
IGL01548:Cpne6 APN 14 55,750,183 (GRCm39) missense probably damaging 0.99
IGL01867:Cpne6 APN 14 55,751,137 (GRCm39) missense probably benign 0.16
IGL01902:Cpne6 APN 14 55,750,207 (GRCm39) missense possibly damaging 0.80
IGL02669:Cpne6 APN 14 55,751,283 (GRCm39) missense probably benign 0.09
IGL02695:Cpne6 APN 14 55,752,037 (GRCm39) missense probably damaging 1.00
IGL03082:Cpne6 APN 14 55,753,760 (GRCm39) missense probably damaging 1.00
ANU23:Cpne6 UTSW 14 55,752,706 (GRCm39) missense probably damaging 1.00
ANU23:Cpne6 UTSW 14 55,749,459 (GRCm39) missense probably benign 0.05
R0504:Cpne6 UTSW 14 55,752,059 (GRCm39) missense probably damaging 0.99
R1472:Cpne6 UTSW 14 55,752,092 (GRCm39) missense probably benign 0.00
R1898:Cpne6 UTSW 14 55,754,485 (GRCm39) missense possibly damaging 0.88
R2679:Cpne6 UTSW 14 55,753,786 (GRCm39) missense possibly damaging 0.94
R4235:Cpne6 UTSW 14 55,751,057 (GRCm39) intron probably benign
R4453:Cpne6 UTSW 14 55,750,054 (GRCm39) missense probably damaging 1.00
R4471:Cpne6 UTSW 14 55,754,089 (GRCm39) missense probably damaging 1.00
R4823:Cpne6 UTSW 14 55,754,467 (GRCm39) missense probably damaging 1.00
R5171:Cpne6 UTSW 14 55,749,605 (GRCm39) missense possibly damaging 0.71
R5243:Cpne6 UTSW 14 55,750,204 (GRCm39) missense probably damaging 1.00
R5999:Cpne6 UTSW 14 55,750,516 (GRCm39) missense probably benign
R6111:Cpne6 UTSW 14 55,752,091 (GRCm39) missense probably benign 0.18
R6475:Cpne6 UTSW 14 55,751,110 (GRCm39) missense probably damaging 1.00
R6535:Cpne6 UTSW 14 55,751,122 (GRCm39) missense probably benign 0.30
R6787:Cpne6 UTSW 14 55,752,701 (GRCm39) missense probably damaging 1.00
R7318:Cpne6 UTSW 14 55,751,751 (GRCm39) missense possibly damaging 0.95
R7453:Cpne6 UTSW 14 55,749,473 (GRCm39) missense probably benign 0.08
R7707:Cpne6 UTSW 14 55,753,771 (GRCm39) missense probably damaging 1.00
R7934:Cpne6 UTSW 14 55,750,066 (GRCm39) missense possibly damaging 0.74
R7935:Cpne6 UTSW 14 55,750,066 (GRCm39) missense possibly damaging 0.74
R7998:Cpne6 UTSW 14 55,753,751 (GRCm39) missense probably damaging 0.98
R8083:Cpne6 UTSW 14 55,750,698 (GRCm39) missense probably benign 0.42
R8141:Cpne6 UTSW 14 55,750,066 (GRCm39) missense possibly damaging 0.74
R8144:Cpne6 UTSW 14 55,750,066 (GRCm39) missense possibly damaging 0.74
R8145:Cpne6 UTSW 14 55,752,025 (GRCm39) missense probably benign 0.10
R8190:Cpne6 UTSW 14 55,749,485 (GRCm39) missense probably benign 0.03
R8919:Cpne6 UTSW 14 55,750,104 (GRCm39) missense probably benign 0.00
R8966:Cpne6 UTSW 14 55,750,060 (GRCm39) missense probably damaging 0.99
R8983:Cpne6 UTSW 14 55,753,711 (GRCm39) missense probably damaging 1.00
R9426:Cpne6 UTSW 14 55,751,176 (GRCm39) critical splice donor site probably null
R9540:Cpne6 UTSW 14 55,750,108 (GRCm39) missense probably benign 0.14
R9772:Cpne6 UTSW 14 55,754,117 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- GTGCTTGACCATGAGTGTCTGACTG -3'
(R):5'- TGCGGCATCCATGAGAACCAAC -3'

Sequencing Primer
(F):5'- CCATGAGTGTCTGACTGTCTGTC -3'
(R):5'- CCATAGGCGGCCTCATAATG -3'
Posted On 2014-04-13