Incidental Mutation 'R1634:Cpne4'
ID 172994
Institutional Source Beutler Lab
Gene Symbol Cpne4
Ensembl Gene ENSMUSG00000032564
Gene Name copine IV
Synonyms 3632411M23Rik, 4933406O10Rik
MMRRC Submission 039671-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R1634 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 104443900-104911747 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104866778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 230 (V230A)
Ref Sequence ENSEMBL: ENSMUSP00000150096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057742] [ENSMUST00000077190] [ENSMUST00000213120] [ENSMUST00000213452]
AlphaFold Q8BLR2
Predicted Effect possibly damaging
Transcript: ENSMUST00000057742
AA Change: V230A

PolyPhen 2 Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000049663
Gene: ENSMUSG00000032564
AA Change: V230A

DomainStartEndE-ValueType
C2 24 130 4.29e-6 SMART
C2 144 261 4.22e-5 SMART
low complexity region 269 279 N/A INTRINSIC
VWA 305 507 2.61e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000077190
SMART Domains Protein: ENSMUSP00000076432
Gene: ENSMUSG00000032564

DomainStartEndE-ValueType
C2 24 130 4.29e-6 SMART
C2 144 275 1.94e1 SMART
VWA 223 425 9.73e-12 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000213120
AA Change: V230A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000213452
Meta Mutation Damage Score 0.6324 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.7%
  • 20x: 90.4%
Validation Efficiency 97% (67/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the highly conserved copine family. It encodes a calcium-dependent, phospholipid-binding protein, which may be involved in membrane trafficking, mitogenesis and development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 A T 14: 66,295,180 (GRCm39) F222I probably damaging Het
Adam34 A T 8: 44,105,127 (GRCm39) C173S possibly damaging Het
Ahi1 T C 10: 20,841,592 (GRCm39) V293A probably damaging Het
AI182371 A T 2: 34,976,497 (GRCm39) Y223N probably damaging Het
Asmt C A X: 169,109,564 (GRCm39) F181L probably damaging Het
Axin1 T A 17: 26,406,965 (GRCm39) H519Q probably damaging Het
Cdc5l A T 17: 45,715,632 (GRCm39) V660E probably damaging Het
Cep152 C T 2: 125,425,809 (GRCm39) R852H probably benign Het
Cttnbp2 A T 6: 18,408,656 (GRCm39) N988K probably benign Het
D430041D05Rik A G 2: 104,051,556 (GRCm39) I767T probably damaging Het
Dgki A G 6: 36,892,425 (GRCm39) M851T probably benign Het
Dnah8 T C 17: 30,932,072 (GRCm39) probably null Het
Dscaml1 A G 9: 45,584,047 (GRCm39) E504G probably damaging Het
Dzank1 G A 2: 144,323,589 (GRCm39) A618V probably benign Het
Entrep3 A C 3: 89,095,401 (GRCm39) Y511S probably damaging Het
Fat2 T A 11: 55,158,510 (GRCm39) S3403C probably damaging Het
Fat2 C T 11: 55,175,545 (GRCm39) V1723I probably benign Het
Flt1 A T 5: 147,613,240 (GRCm39) F334I probably damaging Het
Galnt12 G T 4: 47,108,585 (GRCm39) probably null Het
Gzmc T C 14: 56,469,737 (GRCm39) I188V possibly damaging Het
Herc1 T C 9: 66,380,820 (GRCm39) S3566P possibly damaging Het
Hoxb4 C A 11: 96,211,099 (GRCm39) probably benign Het
Idh3b C T 2: 130,123,665 (GRCm39) V141I probably benign Het
Kif24 A G 4: 41,393,529 (GRCm39) S1249P probably benign Het
Leo1 T C 9: 75,373,542 (GRCm39) Y656H possibly damaging Het
Map3k20 G A 2: 72,240,521 (GRCm39) W339* probably null Het
Map3k5 T C 10: 20,012,657 (GRCm39) V1259A possibly damaging Het
Masp2 A G 4: 148,698,812 (GRCm39) D631G probably damaging Het
Mink1 T C 11: 70,499,706 (GRCm39) S713P probably benign Het
Mpp7 A T 18: 7,350,984 (GRCm39) V571E possibly damaging Het
Nell1 A G 7: 50,498,306 (GRCm39) D574G possibly damaging Het
Obscn T C 11: 58,967,722 (GRCm39) Y392C probably damaging Het
Odad2 A G 18: 7,286,688 (GRCm39) L181P probably damaging Het
Olfml2a A T 2: 38,850,231 (GRCm39) Y649F probably benign Het
Or1f19 A G 16: 3,411,073 (GRCm39) D271G probably benign Het
Or4k45 T C 2: 111,395,691 (GRCm39) M33V probably benign Het
Prkcg A G 7: 3,371,986 (GRCm39) D484G probably damaging Het
Rab27a T C 9: 72,982,851 (GRCm39) probably null Het
Rapgef6 TG TGG 11: 54,437,223 (GRCm39) probably null Het
Rgl1 C T 1: 152,400,523 (GRCm39) R624H probably damaging Het
Ric8b G A 10: 84,806,612 (GRCm39) G159D probably damaging Het
Sbno2 C A 10: 79,896,468 (GRCm39) A880S possibly damaging Het
Scn9a A G 2: 66,318,361 (GRCm39) S1477P probably damaging Het
Sec22a T C 16: 35,139,243 (GRCm39) probably benign Het
Snx14 T C 9: 88,267,792 (GRCm39) I714M probably benign Het
Snx14 T C 9: 88,289,543 (GRCm39) probably benign Het
Sphk2 T A 7: 45,360,964 (GRCm39) T347S probably benign Het
Spns1 C T 7: 125,970,343 (GRCm39) probably benign Het
Susd2 A G 10: 75,473,389 (GRCm39) V675A probably benign Het
Sytl2 A T 7: 90,044,390 (GRCm39) D566V probably damaging Het
Tcf25 T A 8: 124,123,830 (GRCm39) I464N possibly damaging Het
Tex261 A T 6: 83,752,004 (GRCm39) I49N possibly damaging Het
Tjp1 A G 7: 64,952,700 (GRCm39) F1545L possibly damaging Het
Tmem176b A G 6: 48,811,500 (GRCm39) S216P probably damaging Het
Topaz1 C T 9: 122,609,740 (GRCm39) probably benign Het
Tra2a C T 6: 49,227,891 (GRCm39) probably benign Het
Ttn A G 2: 76,553,126 (GRCm39) F22794S possibly damaging Het
Uox G A 3: 146,318,138 (GRCm39) W93* probably null Het
Zan A T 5: 137,411,052 (GRCm39) probably benign Het
Zfp106 G A 2: 120,364,158 (GRCm39) R750* probably null Het
Zfp638 A T 6: 83,956,894 (GRCm39) probably null Het
Other mutations in Cpne4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01650:Cpne4 APN 9 104,778,710 (GRCm39) missense probably damaging 1.00
IGL01871:Cpne4 APN 9 104,802,956 (GRCm39) missense possibly damaging 0.93
IGL02097:Cpne4 APN 9 104,563,701 (GRCm39) missense probably damaging 1.00
IGL02698:Cpne4 APN 9 104,909,984 (GRCm39) missense probably damaging 1.00
IGL02933:Cpne4 APN 9 104,896,966 (GRCm39) missense possibly damaging 0.64
R0471:Cpne4 UTSW 9 104,899,481 (GRCm39) splice site probably null
R0528:Cpne4 UTSW 9 104,563,640 (GRCm39) missense probably damaging 0.99
R0698:Cpne4 UTSW 9 104,802,994 (GRCm39) missense probably damaging 1.00
R1025:Cpne4 UTSW 9 104,871,057 (GRCm39) missense possibly damaging 0.64
R1054:Cpne4 UTSW 9 104,899,600 (GRCm39) missense probably benign 0.01
R1300:Cpne4 UTSW 9 104,870,333 (GRCm39) missense probably damaging 1.00
R1422:Cpne4 UTSW 9 104,777,484 (GRCm39) missense probably damaging 0.98
R1439:Cpne4 UTSW 9 104,866,831 (GRCm39) missense probably damaging 0.99
R1777:Cpne4 UTSW 9 104,749,887 (GRCm39) missense probably damaging 1.00
R2992:Cpne4 UTSW 9 104,899,564 (GRCm39) missense probably damaging 1.00
R4094:Cpne4 UTSW 9 104,563,734 (GRCm39) missense probably damaging 1.00
R4729:Cpne4 UTSW 9 104,799,755 (GRCm39) missense probably damaging 0.96
R4943:Cpne4 UTSW 9 104,896,972 (GRCm39) missense probably damaging 1.00
R5119:Cpne4 UTSW 9 104,778,720 (GRCm39) splice site probably null
R5787:Cpne4 UTSW 9 104,899,600 (GRCm39) missense probably benign 0.01
R5839:Cpne4 UTSW 9 104,803,027 (GRCm39) missense probably damaging 1.00
R5876:Cpne4 UTSW 9 104,802,969 (GRCm39) missense probably damaging 0.98
R7386:Cpne4 UTSW 9 104,749,939 (GRCm39) missense possibly damaging 0.82
R7849:Cpne4 UTSW 9 104,563,718 (GRCm39) missense probably damaging 0.99
R7887:Cpne4 UTSW 9 104,909,990 (GRCm39) missense probably damaging 1.00
R8910:Cpne4 UTSW 9 104,799,706 (GRCm39) intron probably benign
R9267:Cpne4 UTSW 9 104,884,833 (GRCm39) missense probably damaging 0.97
R9368:Cpne4 UTSW 9 104,563,738 (GRCm39) missense probably damaging 0.99
R9407:Cpne4 UTSW 9 104,749,963 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTCACTAGGTGCCCCTTCCAGAG -3'
(R):5'- AAAGCAATGCCCAAGATTGCATAGC -3'

Sequencing Primer
(F):5'- TCACAGTGACTGATGTGCCAC -3'
(R):5'- TGCCCAAGATTGCATAGCTAAAG -3'
Posted On 2014-04-24