Incidental Mutation 'R9095:Cpne1'
ID 691261
Institutional Source Beutler Lab
Gene Symbol Cpne1
Ensembl Gene ENSMUSG00000074643
Gene Name copine I
Synonyms 1810028N16Rik
MMRRC Submission 068910-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.400) question?
Stock # R9095 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 155913765-155953847 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 155918210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105236 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079312] [ENSMUST00000109607] [ENSMUST00000109608] [ENSMUST00000132494] [ENSMUST00000133921] [ENSMUST00000136296] [ENSMUST00000142960] [ENSMUST00000147627] [ENSMUST00000153634] [ENSMUST00000154889] [ENSMUST00000183518] [ENSMUST00000183972] [ENSMUST00000184152] [ENSMUST00000184265] [ENSMUST00000184899]
AlphaFold Q8C166
Predicted Effect probably benign
Transcript: ENSMUST00000079312
SMART Domains Protein: ENSMUSP00000078292
Gene: ENSMUSG00000074643

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 probably null
Transcript: ENSMUST00000109607
SMART Domains Protein: ENSMUSP00000105236
Gene: ENSMUSG00000074643

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: ENSMUST00000109608
SMART Domains Protein: ENSMUSP00000105237
Gene: ENSMUSG00000074643

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 probably benign
Transcript: ENSMUST00000133921
SMART Domains Protein: ENSMUSP00000122644
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
Pfam:C2 139 178 3.3e-3 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136296
SMART Domains Protein: ENSMUSP00000122994
Gene: ENSMUSG00000074643

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 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: ENSMUST00000142960
SMART Domains Protein: ENSMUSP00000121299
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
C2 6 112 2.4e-11 SMART
C2 123 206 3e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000147627
SMART Domains Protein: ENSMUSP00000116982
Gene: ENSMUSG00000074643

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 probably benign
Transcript: ENSMUST00000153634
SMART Domains Protein: ENSMUSP00000115167
Gene: ENSMUSG00000074643

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 probably benign
Transcript: ENSMUST00000154889
SMART Domains Protein: ENSMUSP00000118140
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
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: 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 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: ENSMUST00000183518
SMART Domains Protein: ENSMUSP00000139010
Gene: ENSMUSG00000098950

DomainStartEndE-ValueType
Blast:RRM_2 4 40 4e-15 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000183733
Predicted Effect probably benign
Transcript: ENSMUST00000183972
Predicted Effect probably benign
Transcript: ENSMUST00000184152
SMART Domains Protein: ENSMUSP00000139035
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000184265
SMART Domains Protein: ENSMUSP00000138888
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (75/75)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 C T 17: 24,500,370 (GRCm39) V1274M probably damaging Het
Abca4 A G 3: 121,967,556 (GRCm39) H2202R possibly damaging Het
Ablim3 A G 18: 61,953,463 (GRCm39) L350P probably benign Het
Adamts17 C T 7: 66,654,117 (GRCm39) T449I probably damaging Het
Ankrd39 T A 1: 36,586,241 (GRCm39) D9V probably benign Het
Arhgef7 T C 8: 11,835,819 (GRCm39) V192A probably damaging Het
Art4 C T 6: 136,834,269 (GRCm39) probably benign Het
Atg4a-ps A T 3: 103,553,254 (GRCm39) V29E possibly damaging Het
Ccdc180 A T 4: 45,949,466 (GRCm39) K1574* probably null Het
Cfap54 T G 10: 92,846,882 (GRCm39) T1028P probably damaging Het
Clip2 C T 5: 134,532,254 (GRCm39) R517H possibly damaging Het
Col5a1 A G 2: 27,914,665 (GRCm39) T94A probably benign Het
Csnk2a1-ps3 A T 1: 156,352,213 (GRCm39) Y138F probably benign Het
Cyp2f2 T A 7: 26,830,667 (GRCm39) M346K possibly damaging Het
D130040H23Rik AAGAATATATTCTACAGAATATA AAGAATATA 8: 69,755,748 (GRCm39) probably null Het
Ddi2 T A 4: 141,419,590 (GRCm39) I387F probably benign Het
Dsg1b A G 18: 20,523,282 (GRCm39) N103S probably damaging Het
Duxf3 GCCC GCC 10: 58,066,944 (GRCm39) probably null Het
Dysf A G 6: 84,156,666 (GRCm39) I1464V probably benign Het
Epha2 A G 4: 141,044,012 (GRCm39) Y314C possibly damaging Het
Etl4 A G 2: 20,782,964 (GRCm39) E675G probably damaging Het
Fam114a1 A C 5: 65,188,733 (GRCm39) I488L probably benign Het
Fbxo31 G A 8: 122,281,136 (GRCm39) R337C probably damaging Het
Fn1 A C 1: 71,647,149 (GRCm39) I1547S probably null Het
Garre1 A T 7: 33,956,770 (GRCm39) probably null Het
Get1 T A 16: 95,954,244 (GRCm39) probably benign Het
Gm14305 T A 2: 176,413,045 (GRCm39) Y312* probably null Het
Golm2 T A 2: 121,756,096 (GRCm39) L375Q probably damaging Het
Gpihbp1 A G 15: 75,469,641 (GRCm39) T119A possibly damaging Het
Harbi1 T G 2: 91,542,980 (GRCm39) V147G probably damaging Het
Ifit1bl1 T C 19: 34,571,899 (GRCm39) Y186C probably damaging Het
Ighv13-2 C A 12: 114,321,494 (GRCm39) A82S probably benign Het
Itpr1 T A 6: 108,364,352 (GRCm39) D827E probably benign Het
Krtap4-2 C T 11: 99,525,801 (GRCm39) G17D unknown Het
Ly6a A T 15: 74,867,333 (GRCm39) probably benign Het
Mad1l1 C T 5: 140,288,741 (GRCm39) E203K probably damaging Het
Mapk14 C A 17: 28,934,413 (GRCm39) D101E probably benign Het
Meis3 G T 7: 15,917,764 (GRCm39) G306W probably damaging Het
Mixl1 T C 1: 180,524,402 (GRCm39) D59G probably benign Het
Nav2 G A 7: 49,254,293 (GRCm39) V2364M probably damaging Het
Nell1 T C 7: 50,506,150 (GRCm39) S786P possibly damaging Het
Or13a25 T G 7: 140,247,813 (GRCm39) N197K probably damaging Het
Or51e2 C A 7: 102,391,473 (GRCm39) V246L possibly damaging Het
Or51g1 A G 7: 102,633,687 (GRCm39) L228P probably damaging Het
Or5b107 T G 19: 13,143,310 (GRCm39) S311A probably benign Het
Pcdhgb8 A T 18: 37,896,052 (GRCm39) D374V probably damaging Het
Phactr2 A G 10: 13,129,386 (GRCm39) I294T probably benign Het
Plekha4 C T 7: 45,190,492 (GRCm39) A400V probably damaging Het
Pramel21 T C 4: 143,341,760 (GRCm39) F63S probably damaging Het
Pramel4 C A 4: 143,794,928 (GRCm39) D441E probably benign Het
Prr12 G A 7: 44,695,267 (GRCm39) P1400S unknown Het
Prss3b T A 6: 41,010,038 (GRCm39) N99Y possibly damaging Het
Rbm6 G A 9: 107,669,089 (GRCm39) Q608* probably null Het
Scamp1 T A 13: 94,369,598 (GRCm39) I76F probably benign Het
Sez6 G A 11: 77,865,121 (GRCm39) E623K possibly damaging Het
Sirt1 A T 10: 63,158,077 (GRCm39) S446T probably damaging Het
Slc25a54 A G 3: 109,019,404 (GRCm39) K336R probably benign Het
Spag17 G T 3: 99,912,092 (GRCm39) V321F possibly damaging Het
Sstr1 A G 12: 58,259,620 (GRCm39) Y81C probably damaging Het
St8sia4 T C 1: 95,519,525 (GRCm39) K321R probably damaging Het
Stac3 T C 10: 127,343,584 (GRCm39) F242S probably damaging Het
Tanc2 T G 11: 105,758,104 (GRCm39) S622A probably benign Het
Tcf4 G A 18: 69,598,464 (GRCm39) D106N possibly damaging Het
Tfrc T A 16: 32,433,571 (GRCm39) I75N possibly damaging Het
Tigd2 G A 6: 59,187,509 (GRCm39) W125* probably null Het
Tjp1 T C 7: 64,952,745 (GRCm39) T1530A possibly damaging Het
Tmem132a T A 19: 10,844,412 (GRCm39) H62L probably benign Het
Tmem89 T C 9: 108,743,729 (GRCm39) S10P unknown Het
Trrap C T 5: 144,733,961 (GRCm39) P938L probably damaging Het
Unc80 C A 1: 66,545,912 (GRCm39) P488T probably damaging Het
Uri1 C A 7: 37,662,873 (GRCm39) G374C probably damaging Het
Utp20 T C 10: 88,611,180 (GRCm39) N1379S probably damaging Het
Vcan G T 13: 89,852,644 (GRCm39) T772K probably benign Het
Zbtb37 A T 1: 160,847,941 (GRCm39) Y355* probably null Het
Zfp3 A G 11: 70,662,405 (GRCm39) I121M probably benign Het
Zfp629 A T 7: 127,209,547 (GRCm39) L754Q probably damaging 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
R0496:Cpne1 UTSW 2 155,921,339 (GRCm39) missense probably damaging 0.99
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
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'- AGGCCCAGGAGATTTTAGCTTT -3'
(R):5'- GGGTAGATGTAGGAAGGATCTCAT -3'

Sequencing Primer
(F):5'- GCCCAGGAGATTTTAGCTTTATTTTG -3'
(R):5'- GGTATGCAGTGATCCTAATGCCC -3'
Posted On 2021-12-30