Incidental Mutation 'R0496:Cpne1'
ID 43906
Institutional Source Beutler Lab
Gene Symbol Cpne1
Ensembl Gene ENSMUSG00000074643
Gene Name copine I
Synonyms 1810028N16Rik
MMRRC Submission 038692-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.400) question?
Stock # R0496 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 155913765-155953847 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 155921339 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 16 (H16Y)
Ref Sequence ENSEMBL: ENSMUSP00000138888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079312] [ENSMUST00000109607] [ENSMUST00000109608] [ENSMUST00000132494] [ENSMUST00000133921] [ENSMUST00000153634] [ENSMUST00000136296] [ENSMUST00000147627] [ENSMUST00000142960] [ENSMUST00000154889] [ENSMUST00000184152] [ENSMUST00000184265] [ENSMUST00000183972] [ENSMUST00000183518] [ENSMUST00000184899]
AlphaFold Q8C166
Predicted Effect possibly damaging
Transcript: ENSMUST00000079312
AA Change: H16Y

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000078292
Gene: ENSMUSG00000074643
AA Change: H16Y

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
C2 137 242 8.76e-12 SMART
VWA 282 468 8.96e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000109607
AA Change: H16Y

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105236
Gene: ENSMUSG00000074643
AA Change: H16Y

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
C2 137 242 8.76e-12 SMART
VWA 282 484 9.5e-15 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000109608
AA Change: H16Y

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105237
Gene: ENSMUSG00000074643
AA Change: H16Y

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
C2 137 242 8.76e-12 SMART
VWA 282 484 9.5e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127956
SMART Domains Protein: ENSMUSP00000114923
Gene: ENSMUSG00000098950

DomainStartEndE-ValueType
low complexity region 10 28 N/A INTRINSIC
low complexity region 73 172 N/A INTRINSIC
RRM 217 287 1.05e-1 SMART
RRM 343 415 2.73e-7 SMART
RRM 457 529 8.73e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132494
SMART Domains Protein: ENSMUSP00000139175
Gene: ENSMUSG00000098950

DomainStartEndE-ValueType
Pfam:RRM_6 5 70 1.5e-5 PFAM
low complexity region 98 116 N/A INTRINSIC
low complexity region 161 260 N/A INTRINSIC
RRM 305 375 1.05e-1 SMART
RRM 431 503 2.73e-7 SMART
RRM 545 617 8.73e-6 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000133921
AA Change: H16Y

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122644
Gene: ENSMUSG00000074643
AA Change: H16Y

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
Pfam:C2 139 178 3.3e-3 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000153634
AA Change: H16Y

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115167
Gene: ENSMUSG00000074643
AA Change: H16Y

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
C2 123 218 7.88e-5 SMART
Pfam:Copine 279 325 4.1e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000136296
AA Change: H16Y

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122994
Gene: ENSMUSG00000074643
AA Change: H16Y

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
C2 123 218 7.88e-5 SMART
Pfam:Copine 279 378 2.3e-41 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000147627
AA Change: H16Y

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000116982
Gene: ENSMUSG00000074643
AA Change: H16Y

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
C2 137 242 8.76e-12 SMART
Pfam:Copine 303 350 1.3e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000142960
AA Change: H16Y

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121299
Gene: ENSMUSG00000074643
AA Change: H16Y

DomainStartEndE-ValueType
C2 6 112 2.4e-11 SMART
C2 123 206 3e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000154889
AA Change: H16Y

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118140
Gene: ENSMUSG00000074643
AA Change: H16Y

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147956
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183353
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142975
Predicted Effect probably benign
Transcript: ENSMUST00000140109
SMART Domains Protein: ENSMUSP00000121998
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
Pfam:Copine 1 148 2.1e-50 PFAM
Pfam:vWA-TerF-like 5 111 2.5e-7 PFAM
low complexity region 167 185 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159952
SMART Domains Protein: ENSMUSP00000124101
Gene: ENSMUSG00000098950

DomainStartEndE-ValueType
SCOP:d1eg5a_ 3 82 2e-15 SMART
PDB:1P3W|A 3 86 3e-34 PDB
low complexity region 93 106 N/A INTRINSIC
Blast:RRM_2 124 160 2e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000162612
SMART Domains Protein: ENSMUSP00000125190
Gene: ENSMUSG00000098950

DomainStartEndE-ValueType
SCOP:d1eg5a_ 3 82 1e-15 SMART
PDB:1P3W|A 3 86 2e-34 PDB
low complexity region 93 106 N/A INTRINSIC
Blast:RRM_2 124 161 1e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000160165
SMART Domains Protein: ENSMUSP00000124858
Gene: ENSMUSG00000098950

DomainStartEndE-ValueType
PDB:1P3W|A 3 28 1e-6 PDB
low complexity region 36 50 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000184152
AA Change: H16Y

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139035
Gene: ENSMUSG00000074643
AA Change: H16Y

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000184265
AA Change: H16Y

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138888
Gene: ENSMUSG00000074643
AA Change: H16Y

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184933
Predicted Effect probably benign
Transcript: ENSMUST00000183972
Predicted Effect probably benign
Transcript: ENSMUST00000183518
SMART Domains Protein: ENSMUSP00000139010
Gene: ENSMUSG00000098950

DomainStartEndE-ValueType
Blast:RRM_2 4 40 4e-15 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000184899
SMART Domains Protein: ENSMUSP00000139177
Gene: ENSMUSG00000098950

DomainStartEndE-ValueType
Blast:RRM_2 4 54 2e-25 BLAST
SCOP:d2u1a__ 9 68 6e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183733
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency 98% (99/101)
MGI Phenotype FUNCTION: This gene encodes a protein that contains two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. Its activity is also upregulated in mouse embryos. This gene and the gene for RNA binding motif protein 12 overlap at map location 2 H2. Two alternatively spliced variants that encode the same isoform have been identified for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,774,005 (GRCm39) K1065E probably damaging Het
4933402N03Rik T C 7: 130,747,860 (GRCm39) N44S probably benign Het
Abca13 A G 11: 9,241,701 (GRCm39) D1188G probably benign Het
Abcb11 C T 2: 69,108,228 (GRCm39) probably benign Het
Abcc8 A T 7: 45,758,244 (GRCm39) I1274N probably damaging Het
Adamtsl1 G A 4: 86,259,435 (GRCm39) C827Y probably damaging Het
Agap3 T A 5: 24,706,241 (GRCm39) V369E probably damaging Het
Ankrd13b G A 11: 77,363,867 (GRCm39) R195C probably damaging Het
Ap3b1 A G 13: 94,609,446 (GRCm39) probably benign Het
Arhgef40 A T 14: 52,242,364 (GRCm39) probably benign Het
Atad5 A G 11: 79,991,182 (GRCm39) I692V probably benign Het
Atp5f1b G T 10: 127,922,043 (GRCm39) R310L possibly damaging Het
AY358078 A T 14: 52,040,989 (GRCm39) M103L unknown Het
Bcl9l T G 9: 44,420,815 (GRCm39) V1370G probably benign Het
Bglap3 T A 3: 88,276,444 (GRCm39) Q38L probably damaging Het
Bltp1 A G 3: 37,041,784 (GRCm39) T2721A probably damaging Het
Ccn2 G T 10: 24,473,413 (GRCm39) M317I possibly damaging Het
Cd38 T C 5: 44,026,233 (GRCm39) F6L probably damaging Het
Cela3a A C 4: 137,131,779 (GRCm39) V138G probably damaging Het
Cemip2 A T 19: 21,774,709 (GRCm39) N117I possibly damaging Het
Clvs1 T A 4: 9,424,241 (GRCm39) I229N probably damaging Het
Ctc1 T C 11: 68,926,333 (GRCm39) L1069P probably damaging Het
Dgkd G A 1: 87,864,622 (GRCm39) S996N probably null Het
Dnah9 A T 11: 65,965,961 (GRCm39) M1685K probably null Het
Dnajb12 C T 10: 59,715,623 (GRCm39) R42* probably null Het
Dock5 T C 14: 68,054,967 (GRCm39) Q633R probably damaging Het
Dync2h1 A G 9: 7,155,180 (GRCm39) M868T probably benign Het
Enpp1 G T 10: 24,547,950 (GRCm39) H208Q probably benign Het
Epha7 T A 4: 28,821,292 (GRCm39) D152E probably damaging Het
Fancd2 T C 6: 113,532,091 (GRCm39) probably benign Het
Gart G A 16: 91,419,925 (GRCm39) probably benign Het
Gm10964 A T 3: 103,646,745 (GRCm39) probably null Het
Gpbar1 T C 1: 74,318,140 (GRCm39) F128L probably benign Het
Gsx2 T A 5: 75,237,726 (GRCm39) M226K probably benign Het
Gucd1 T C 10: 75,347,100 (GRCm39) D50G possibly damaging Het
Has1 A G 17: 18,064,008 (GRCm39) Y544H probably benign Het
Hc A T 2: 34,903,583 (GRCm39) Y1024N probably damaging Het
Hoxa13 CCG CCGCG 6: 52,237,618 (GRCm39) probably null Het
Ift122 T A 6: 115,882,863 (GRCm39) H659Q probably benign Het
Itga2 T C 13: 114,990,435 (GRCm39) Q902R probably benign Het
Itgb2l T C 16: 96,235,901 (GRCm39) K181E possibly damaging Het
Jak3 A T 8: 72,135,041 (GRCm39) H558L probably damaging Het
Kcnh8 A G 17: 53,032,886 (GRCm39) T58A probably benign Het
Klhl6 GT G 16: 19,775,716 (GRCm39) 279 probably null Het
Krt33a C T 11: 99,903,155 (GRCm39) probably benign Het
Magi2 A T 5: 20,866,357 (GRCm39) probably benign Het
Map4 G A 9: 109,868,918 (GRCm39) probably benign Het
Map4k4 T A 1: 40,045,982 (GRCm39) S754T probably damaging Het
Mapk8ip3 A G 17: 25,133,424 (GRCm39) probably benign Het
Mib1 A G 18: 10,804,773 (GRCm39) S918G probably benign Het
Mipol1 T A 12: 57,503,963 (GRCm39) V377D probably damaging Het
Mlh1 T C 9: 111,070,624 (GRCm39) T364A probably benign Het
Mta1 C T 12: 113,094,941 (GRCm39) Q400* probably null Het
Mthfd1l C G 10: 4,040,006 (GRCm39) R806G probably benign Het
Myh13 C A 11: 67,239,641 (GRCm39) N730K probably damaging Het
Myom1 A G 17: 71,391,301 (GRCm39) K937E probably damaging Het
Naxd T C 8: 11,560,224 (GRCm39) probably benign Het
Negr1 G T 3: 156,721,904 (GRCm39) K159N probably damaging Het
Nwd2 G T 5: 63,963,686 (GRCm39) W1090L probably damaging Het
Or1e1f T C 11: 73,855,706 (GRCm39) S91P probably benign Het
Or2j3 A G 17: 38,615,549 (GRCm39) S268P probably damaging Het
Or51v14 C T 7: 103,261,204 (GRCm39) A119T probably benign Het
Or52r1c T C 7: 102,734,797 (GRCm39) I19T probably damaging Het
Or5d41 A T 2: 88,054,499 (GRCm39) Y292* probably null Het
Pcsk6 G A 7: 65,576,997 (GRCm39) S58N probably benign Het
Pdzrn3 G A 6: 101,127,531 (GRCm39) T1045I possibly damaging Het
Pitrm1 T C 13: 6,618,750 (GRCm39) L641P probably damaging Het
Pkd1l1 G T 11: 8,879,430 (GRCm39) H474N probably damaging Het
Pltp A G 2: 164,694,381 (GRCm39) probably benign Het
Qtrt1 C T 9: 21,330,844 (GRCm39) T324M probably benign Het
Racgap1 A T 15: 99,537,713 (GRCm39) probably benign Het
Rhbg A G 3: 88,161,805 (GRCm39) V50A probably benign Het
Rnf135 G A 11: 80,074,776 (GRCm39) V12M probably damaging Het
Rnf7l G T 10: 63,257,381 (GRCm39) C46* probably null Het
Rufy2 T C 10: 62,828,949 (GRCm39) V117A probably damaging Het
Safb A G 17: 56,912,630 (GRCm39) M866V probably benign Het
Slc35c2 G T 2: 165,122,735 (GRCm39) T183K probably damaging Het
Slc39a7 A G 17: 34,248,512 (GRCm39) L377P probably damaging Het
Slit1 G A 19: 41,596,750 (GRCm39) probably benign Het
Spaca9 G A 2: 28,583,022 (GRCm39) H133Y probably damaging Het
Spout1 A G 2: 30,064,983 (GRCm39) F339S probably benign Het
St6gal2 A G 17: 55,789,015 (GRCm39) I16M probably damaging Het
Stat2 T C 10: 128,112,378 (GRCm39) M6T probably benign Het
Swt1 T A 1: 151,287,021 (GRCm39) H157L probably benign Het
Syne2 A G 12: 76,085,714 (GRCm39) N147D possibly damaging Het
Tmem222 A T 4: 133,004,902 (GRCm39) M45K possibly damaging Het
Tmem30a T A 9: 79,684,567 (GRCm39) H95L probably damaging Het
Tns3 A C 11: 8,497,262 (GRCm39) probably benign Het
Trpm3 A G 19: 22,676,142 (GRCm39) I103V probably benign Het
Ube2n T C 10: 95,377,206 (GRCm39) F57S probably benign Het
Vil1 T C 1: 74,460,499 (GRCm39) S219P possibly damaging Het
Wdfy4 A G 14: 32,862,695 (GRCm39) probably benign Het
Wdr7 T C 18: 63,924,914 (GRCm39) S966P probably benign Het
Wnt8a A G 18: 34,677,900 (GRCm39) N103D probably damaging Het
Zfp523 G A 17: 28,419,419 (GRCm39) E186K possibly damaging Het
Zfp791 A T 8: 85,836,609 (GRCm39) D418E probably benign Het
Zscan20 A G 4: 128,485,682 (GRCm39) V192A probably benign Het
Other mutations in Cpne1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02118:Cpne1 APN 2 155,919,563 (GRCm39) missense possibly damaging 0.90
IGL02291:Cpne1 APN 2 155,920,340 (GRCm39) missense probably damaging 1.00
IGL02719:Cpne1 APN 2 155,920,137 (GRCm39) missense probably damaging 1.00
IGL03011:Cpne1 APN 2 155,919,917 (GRCm39) missense probably damaging 0.99
IGL03347:Cpne1 APN 2 155,921,096 (GRCm39) missense probably damaging 1.00
johannesburg UTSW 2 155,919,561 (GRCm39) missense probably damaging 1.00
FR4304:Cpne1 UTSW 2 155,913,945 (GRCm39) frame shift probably null
FR4449:Cpne1 UTSW 2 155,915,422 (GRCm39) intron probably benign
FR4976:Cpne1 UTSW 2 155,913,945 (GRCm39) frame shift probably null
R0735:Cpne1 UTSW 2 155,920,670 (GRCm39) critical splice donor site probably null
R0792:Cpne1 UTSW 2 155,919,339 (GRCm39) missense probably benign 0.00
R1874:Cpne1 UTSW 2 155,920,302 (GRCm39) missense probably damaging 0.99
R2015:Cpne1 UTSW 2 155,920,308 (GRCm39) missense probably damaging 1.00
R2518:Cpne1 UTSW 2 155,915,891 (GRCm39) missense probably damaging 0.99
R3000:Cpne1 UTSW 2 155,915,342 (GRCm39) makesense probably null
R3875:Cpne1 UTSW 2 155,918,202 (GRCm39) missense probably damaging 1.00
R5021:Cpne1 UTSW 2 155,940,193 (GRCm39) intron probably benign
R5385:Cpne1 UTSW 2 155,916,284 (GRCm39) missense probably damaging 0.99
R5654:Cpne1 UTSW 2 155,919,561 (GRCm39) missense probably damaging 1.00
R5959:Cpne1 UTSW 2 155,920,143 (GRCm39) missense probably benign 0.00
R6775:Cpne1 UTSW 2 155,920,340 (GRCm39) missense probably damaging 1.00
R7049:Cpne1 UTSW 2 155,920,727 (GRCm39) missense probably damaging 0.97
R7488:Cpne1 UTSW 2 155,919,857 (GRCm39) missense probably benign 0.00
R8212:Cpne1 UTSW 2 155,920,134 (GRCm39) missense probably damaging 0.96
R8332:Cpne1 UTSW 2 155,920,317 (GRCm39) missense probably benign 0.00
R8870:Cpne1 UTSW 2 155,920,873 (GRCm39) missense probably benign 0.30
R8921:Cpne1 UTSW 2 155,913,965 (GRCm39) missense probably benign 0.20
R9094:Cpne1 UTSW 2 155,921,080 (GRCm39) missense probably damaging 0.99
R9095:Cpne1 UTSW 2 155,918,210 (GRCm39) critical splice acceptor site probably null
R9311:Cpne1 UTSW 2 155,919,723 (GRCm39) missense probably damaging 0.99
R9380:Cpne1 UTSW 2 155,920,721 (GRCm39) missense probably benign 0.01
RF034:Cpne1 UTSW 2 155,915,430 (GRCm39) intron probably benign
RF037:Cpne1 UTSW 2 155,915,430 (GRCm39) intron probably benign
RF043:Cpne1 UTSW 2 155,915,430 (GRCm39) intron probably benign
Z1176:Cpne1 UTSW 2 155,919,564 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGTTGCGAACACGTTCAGTCCG -3'
(R):5'- AGCATTGCTGAGGTTAAGGCCAC -3'

Sequencing Primer
(F):5'- ACGTTCAGTCCGGCAAAG -3'
(R):5'- CCAGAGTTTGGTGTCACAAC -3'
Posted On 2013-05-29