Incidental Mutation 'R6979:Cpne3'
ID 542605
Institutional Source Beutler Lab
Gene Symbol Cpne3
Ensembl Gene ENSMUSG00000028228
Gene Name copine III
Synonyms 5430428M23Rik, CPN3, PRO1071, 5730450C07Rik
MMRRC Submission 045087-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R6979 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 19519254-19570108 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 19533098 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 279 (T279I)
Ref Sequence ENSEMBL: ENSMUSP00000029885 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029885]
AlphaFold Q8BT60
Predicted Effect probably benign
Transcript: ENSMUST00000029885
AA Change: T279I

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000029885
Gene: ENSMUSG00000028228
AA Change: T279I

DomainStartEndE-ValueType
C2 7 114 1.06e-10 SMART
C2 139 245 9.53e-13 SMART
low complexity region 253 262 N/A INTRINSIC
VWA 289 495 7.54e-18 SMART
Meta Mutation Damage Score 0.4954 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency 100% (50/50)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac C T 3: 59,947,424 (GRCm39) T374M probably benign Het
Aspg A G 12: 112,087,378 (GRCm39) D278G possibly damaging Het
Aspm C A 1: 139,408,223 (GRCm39) A2370E probably damaging Het
Ccnt2 T C 1: 127,702,873 (GRCm39) M65T probably damaging Het
Cd163 A G 6: 124,294,945 (GRCm39) T670A probably benign Het
Ctdspl G A 9: 118,869,598 (GRCm39) V227M probably damaging Het
Ctnnd2 A G 15: 30,619,376 (GRCm39) E99G probably damaging Het
Dapk1 T C 13: 60,896,095 (GRCm39) S728P probably damaging Het
Dmxl2 A G 9: 54,358,163 (GRCm39) I512T possibly damaging Het
Dop1a A T 9: 86,403,695 (GRCm39) T1630S possibly damaging Het
Dqx1 A G 6: 83,037,992 (GRCm39) D460G probably damaging Het
Foxg1 T C 12: 49,431,567 (GRCm39) probably benign Het
H2-Q2 T A 17: 35,564,623 (GRCm39) probably null Het
Hes6 T C 1: 91,340,810 (GRCm39) E17G possibly damaging Het
Ighv1-42 T C 12: 114,900,848 (GRCm39) Y79C possibly damaging Het
Itfg2 T C 6: 128,388,554 (GRCm39) D311G probably damaging Het
Itgb5 T A 16: 33,740,356 (GRCm39) C489S probably damaging Het
Map4k5 A T 12: 69,869,622 (GRCm39) C488S probably damaging Het
Mark1 C T 1: 184,644,825 (GRCm39) G377D possibly damaging Het
Mat2a A G 6: 72,412,096 (GRCm39) V318A probably damaging Het
Mpp7 T G 18: 7,355,049 (GRCm39) N459T possibly damaging Het
Mrc2 C A 11: 105,239,461 (GRCm39) N1348K probably damaging Het
Mroh5 T C 15: 73,664,978 (GRCm39) K264R probably benign Het
Mtor A G 4: 148,608,930 (GRCm39) M1529V possibly damaging Het
Mtrr C T 13: 68,718,122 (GRCm39) probably null Het
Nwd1 C T 8: 73,394,288 (GRCm39) P517L probably damaging Het
Or4a27 T A 2: 88,559,528 (GRCm39) R138S probably benign Het
Or8h10 A G 2: 86,808,577 (GRCm39) S188P probably damaging Het
Polr1c A G 17: 46,557,095 (GRCm39) F63L probably damaging Het
Polrmt C T 10: 79,582,400 (GRCm39) probably null Het
Pomt2 T C 12: 87,177,125 (GRCm39) I287M probably damaging Het
Prkar2a T A 9: 108,610,342 (GRCm39) N190K possibly damaging Het
Prl3d3 T A 13: 27,341,545 (GRCm39) Y59N possibly damaging Het
Prl5a1 T A 13: 28,335,189 (GRCm39) F199L probably benign Het
Prpf38b A G 3: 108,818,640 (GRCm39) V40A probably benign Het
Ptchd1 T A X: 154,357,708 (GRCm39) Y499F probably damaging Het
Ptgs1 A G 2: 36,141,311 (GRCm39) D586G probably benign Het
Slx4 T C 16: 3,802,879 (GRCm39) K1312E probably damaging Het
Smok3c A G 5: 138,062,987 (GRCm39) D158G probably benign Het
Spen A T 4: 141,205,374 (GRCm39) D1084E unknown Het
Tcp11l1 C T 2: 104,536,784 (GRCm39) G27D probably benign Het
Tep1 A G 14: 51,076,094 (GRCm39) S1679P possibly damaging Het
Tmem259 C T 10: 79,814,391 (GRCm39) V322I possibly damaging Het
Tmpo A T 10: 90,988,359 (GRCm39) probably null Het
Ttn C A 2: 76,555,137 (GRCm39) A30623S probably damaging Het
Ube2l3 G A 16: 16,977,841 (GRCm39) probably benign Het
Unkl A G 17: 25,418,890 (GRCm39) D146G probably damaging Het
Vmn1r51 A T 6: 90,106,186 (GRCm39) H34L possibly damaging Het
Vmn2r17 A G 5: 109,576,265 (GRCm39) T379A possibly damaging Het
Zfp35 G T 18: 24,136,927 (GRCm39) G424C probably benign Het
Zfp420 T A 7: 29,575,446 (GRCm39) H555Q probably damaging Het
Other mutations in Cpne3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01131:Cpne3 APN 4 19,543,318 (GRCm39) missense probably damaging 1.00
IGL01325:Cpne3 APN 4 19,535,229 (GRCm39) missense probably benign 0.00
IGL01467:Cpne3 APN 4 19,553,737 (GRCm39) missense probably benign
IGL02043:Cpne3 APN 4 19,543,340 (GRCm39) splice site probably null
IGL02992:Cpne3 APN 4 19,532,486 (GRCm39) missense probably benign
IGL03330:Cpne3 APN 4 19,553,774 (GRCm39) missense possibly damaging 0.63
LCD18:Cpne3 UTSW 4 19,563,382 (GRCm39) intron probably benign
R0507:Cpne3 UTSW 4 19,532,544 (GRCm39) splice site probably benign
R0652:Cpne3 UTSW 4 19,532,486 (GRCm39) missense probably benign
R1499:Cpne3 UTSW 4 19,526,336 (GRCm39) missense probably damaging 1.00
R1881:Cpne3 UTSW 4 19,535,266 (GRCm39) missense probably benign 0.03
R2007:Cpne3 UTSW 4 19,553,833 (GRCm39) missense probably damaging 1.00
R2147:Cpne3 UTSW 4 19,536,562 (GRCm39) missense probably benign
R2507:Cpne3 UTSW 4 19,553,871 (GRCm39) missense probably damaging 1.00
R4525:Cpne3 UTSW 4 19,523,206 (GRCm39) missense probably damaging 1.00
R4880:Cpne3 UTSW 4 19,540,827 (GRCm39) missense probably benign
R5219:Cpne3 UTSW 4 19,526,366 (GRCm39) missense probably damaging 1.00
R5518:Cpne3 UTSW 4 19,553,779 (GRCm39) missense probably benign 0.10
R5883:Cpne3 UTSW 4 19,552,314 (GRCm39) missense possibly damaging 0.67
R6850:Cpne3 UTSW 4 19,535,231 (GRCm39) missense possibly damaging 0.91
R7395:Cpne3 UTSW 4 19,528,239 (GRCm39) missense probably damaging 0.96
R7948:Cpne3 UTSW 4 19,528,186 (GRCm39) critical splice donor site probably null
R8002:Cpne3 UTSW 4 19,528,232 (GRCm39) missense probably damaging 0.99
R8056:Cpne3 UTSW 4 19,532,426 (GRCm39) missense possibly damaging 0.60
R8099:Cpne3 UTSW 4 19,525,169 (GRCm39) missense possibly damaging 0.61
R8431:Cpne3 UTSW 4 19,526,316 (GRCm39) missense probably damaging 0.98
R8432:Cpne3 UTSW 4 19,535,227 (GRCm39) missense probably benign 0.26
R9029:Cpne3 UTSW 4 19,535,292 (GRCm39) missense possibly damaging 0.66
R9039:Cpne3 UTSW 4 19,540,770 (GRCm39) missense probably damaging 0.99
R9421:Cpne3 UTSW 4 19,536,561 (GRCm39) missense probably benign 0.33
R9425:Cpne3 UTSW 4 19,525,148 (GRCm39) missense probably damaging 1.00
R9604:Cpne3 UTSW 4 19,555,477 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- CTAAGTCAAACTTCCATGATGAACC -3'
(R):5'- TATGAGTCCTGACACTTAGGGAG -3'

Sequencing Primer
(F):5'- CAAACTTCCATGATGAACCTAAATGG -3'
(R):5'- CCTGACACTTAGGGAGGAGTTG -3'
Posted On 2018-11-28