Incidental Mutation 'R5062:Cpne9'
ID 386680
Institutional Source Beutler Lab
Gene Symbol Cpne9
Ensembl Gene ENSMUSG00000030270
Gene Name copine family member IX
Synonyms A730016F12Rik
MMRRC Submission 042652-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.234) question?
Stock # R5062 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 113259244-113282532 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 113281449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 510 (M510K)
Ref Sequence ENSEMBL: ENSMUSP00000044416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041203] [ENSMUST00000113117] [ENSMUST00000113119] [ENSMUST00000113121] [ENSMUST00000113122] [ENSMUST00000130191] [ENSMUST00000203577] [ENSMUST00000204198] [ENSMUST00000204626]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000041203
AA Change: M510K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000044416
Gene: ENSMUSG00000030270
AA Change: M510K

DomainStartEndE-ValueType
C2 14 122 2.12e-10 SMART
C2 143 257 5.15e-9 SMART
VWA 297 495 4.4e-10 SMART
low complexity region 536 553 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113117
SMART Domains Protein: ENSMUSP00000108742
Gene: ENSMUSG00000001632

DomainStartEndE-ValueType
ZnF_C2H2 21 47 2.63e0 SMART
low complexity region 74 85 N/A INTRINSIC
Pfam:EPL1 105 254 1e-35 PFAM
PHD 274 320 7.63e-10 SMART
PHD 384 447 1.05e-7 SMART
low complexity region 461 498 N/A INTRINSIC
BROMO 625 733 1.58e-37 SMART
low complexity region 762 773 N/A INTRINSIC
low complexity region 855 869 N/A INTRINSIC
low complexity region 901 911 N/A INTRINSIC
low complexity region 940 964 N/A INTRINSIC
low complexity region 993 1019 N/A INTRINSIC
low complexity region 1078 1090 N/A INTRINSIC
PWWP 1115 1198 4.1e-42 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113119
SMART Domains Protein: ENSMUSP00000108744
Gene: ENSMUSG00000001632

DomainStartEndE-ValueType
ZnF_C2H2 21 47 2.63e0 SMART
low complexity region 74 85 N/A INTRINSIC
Pfam:EPL1 106 254 8.5e-39 PFAM
PHD 274 320 7.63e-10 SMART
PHD 384 447 1.05e-7 SMART
low complexity region 461 498 N/A INTRINSIC
BROMO 625 733 1.58e-37 SMART
low complexity region 856 870 N/A INTRINSIC
low complexity region 902 912 N/A INTRINSIC
low complexity region 941 965 N/A INTRINSIC
low complexity region 994 1020 N/A INTRINSIC
low complexity region 1079 1091 N/A INTRINSIC
PWWP 1116 1199 4.1e-42 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113121
SMART Domains Protein: ENSMUSP00000108746
Gene: ENSMUSG00000001632

DomainStartEndE-ValueType
ZnF_C2H2 21 47 2.63e0 SMART
low complexity region 74 85 N/A INTRINSIC
Pfam:EPL1 105 254 5.5e-36 PFAM
PHD 274 320 7.63e-10 SMART
PHD 384 447 1.05e-7 SMART
low complexity region 461 498 N/A INTRINSIC
BROMO 625 733 1.58e-37 SMART
low complexity region 856 870 N/A INTRINSIC
low complexity region 902 912 N/A INTRINSIC
low complexity region 941 965 N/A INTRINSIC
low complexity region 994 1020 N/A INTRINSIC
PWWP 1082 1165 4.1e-42 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113122
SMART Domains Protein: ENSMUSP00000108747
Gene: ENSMUSG00000001632

DomainStartEndE-ValueType
ZnF_C2H2 21 47 2.63e0 SMART
low complexity region 74 85 N/A INTRINSIC
Pfam:EPL1 105 254 5.5e-36 PFAM
PHD 274 320 7.63e-10 SMART
PHD 384 447 1.05e-7 SMART
low complexity region 461 498 N/A INTRINSIC
BROMO 625 733 1.58e-37 SMART
low complexity region 762 773 N/A INTRINSIC
low complexity region 855 869 N/A INTRINSIC
low complexity region 901 911 N/A INTRINSIC
low complexity region 940 964 N/A INTRINSIC
low complexity region 993 1019 N/A INTRINSIC
PWWP 1081 1164 4.1e-42 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130191
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132372
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134523
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136728
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156734
Predicted Effect probably benign
Transcript: ENSMUST00000203577
SMART Domains Protein: ENSMUSP00000144820
Gene: ENSMUSG00000001632

DomainStartEndE-ValueType
ZnF_C2H2 21 47 1.2e-2 SMART
low complexity region 74 85 N/A INTRINSIC
Pfam:EPL1 106 254 5.1e-36 PFAM
PHD 274 320 4.9e-12 SMART
PHD 384 447 6.8e-10 SMART
low complexity region 461 498 N/A INTRINSIC
BROMO 625 739 1.3e-34 SMART
low complexity region 768 779 N/A INTRINSIC
low complexity region 861 875 N/A INTRINSIC
low complexity region 907 917 N/A INTRINSIC
low complexity region 946 970 N/A INTRINSIC
low complexity region 999 1025 N/A INTRINSIC
low complexity region 1084 1096 N/A INTRINSIC
PWWP 1121 1204 2.6e-44 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204198
SMART Domains Protein: ENSMUSP00000144804
Gene: ENSMUSG00000001632

DomainStartEndE-ValueType
ZnF_C2H2 21 47 1.2e-2 SMART
low complexity region 74 85 N/A INTRINSIC
Pfam:EPL1 106 254 4.4e-36 PFAM
PHD 274 320 4.9e-12 SMART
PHD 384 447 6.8e-10 SMART
low complexity region 461 498 N/A INTRINSIC
BROMO 625 733 1e-39 SMART
low complexity region 856 870 N/A INTRINSIC
low complexity region 899 925 N/A INTRINSIC
PWWP 987 1070 2.6e-44 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203569
Predicted Effect probably benign
Transcript: ENSMUST00000204626
SMART Domains Protein: ENSMUSP00000145093
Gene: ENSMUSG00000001632

DomainStartEndE-ValueType
ZnF_C2H2 21 47 1.2e-2 SMART
low complexity region 74 85 N/A INTRINSIC
Pfam:EPL1 106 254 4.9e-36 PFAM
PHD 274 320 4.9e-12 SMART
PHD 384 447 6.8e-10 SMART
low complexity region 461 498 N/A INTRINSIC
BROMO 625 739 1.3e-34 SMART
low complexity region 768 779 N/A INTRINSIC
low complexity region 861 875 N/A INTRINSIC
low complexity region 907 917 N/A INTRINSIC
low complexity region 946 970 N/A INTRINSIC
low complexity region 999 1025 N/A INTRINSIC
PWWP 1087 1170 2.6e-44 SMART
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.7%
  • 20x: 90.1%
Validation Efficiency 100% (79/79)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,067,892 (GRCm39) I1593N probably benign Het
Akr1b10 G T 6: 34,369,041 (GRCm39) K173N probably damaging Het
Artn A T 4: 117,784,873 (GRCm39) L3Q probably damaging Het
Asxl3 T A 18: 22,655,775 (GRCm39) S1262T possibly damaging Het
Atp6v0a4 A T 6: 38,051,118 (GRCm39) M420K probably benign Het
Bcam T A 7: 19,494,026 (GRCm39) T422S possibly damaging Het
Casp2 C T 6: 42,246,206 (GRCm39) probably benign Het
Ccdc137 A G 11: 120,353,341 (GRCm39) probably benign Het
Cd177 C A 7: 24,443,741 (GRCm39) A786S probably benign Het
Cdca4 T C 12: 112,785,483 (GRCm39) N82D probably benign Het
Clu A C 14: 66,217,177 (GRCm39) T337P probably damaging Het
Col6a3 A C 1: 90,707,074 (GRCm39) I2013S unknown Het
Cyp3a13 A C 5: 137,897,161 (GRCm39) N384K possibly damaging Het
Fam186a A C 15: 99,842,527 (GRCm39) I1239S possibly damaging Het
Fryl T C 5: 73,233,236 (GRCm39) E413G possibly damaging Het
Fscn2 A C 11: 120,257,575 (GRCm39) Y312S probably damaging Het
Fshr A T 17: 89,293,474 (GRCm39) C401* probably null Het
Glyat A C 19: 12,627,627 (GRCm39) Q74P probably damaging Het
Gm6158 A T 14: 24,120,158 (GRCm39) noncoding transcript Het
Grm7 A G 6: 110,623,097 (GRCm39) N90S probably damaging Het
Hectd1 A T 12: 51,791,662 (GRCm39) C2536S probably damaging Het
Herc3 C T 6: 58,832,745 (GRCm39) Q137* probably null Het
Kctd3 A C 1: 188,727,890 (GRCm39) probably benign Het
Klhl30 A G 1: 91,283,300 (GRCm39) T301A probably benign Het
Klra9 T C 6: 130,156,072 (GRCm39) K228E possibly damaging Het
Lamc3 A T 2: 31,795,679 (GRCm39) T355S possibly damaging Het
Lcmt1 A C 7: 123,010,053 (GRCm39) probably null Het
Limch1 C T 5: 67,126,578 (GRCm39) P60S probably damaging Het
Lrfn2 A G 17: 49,377,528 (GRCm39) D203G probably damaging Het
Mc5r T C 18: 68,472,352 (GRCm39) L237P probably damaging Het
Mknk2 G A 10: 80,507,603 (GRCm39) R58W probably damaging Het
Mrgpra2b T C 7: 47,152,676 (GRCm39) probably benign Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Nae1 A T 8: 105,243,334 (GRCm39) C395S possibly damaging Het
Ncoa1 A G 12: 4,309,333 (GRCm39) M1321T probably damaging Het
Neb A C 2: 52,170,513 (GRCm39) F1720V possibly damaging Het
Nectin2 C T 7: 19,472,198 (GRCm39) V64I probably benign Het
Nisch T A 14: 30,894,397 (GRCm39) T1145S probably damaging Het
Nlrp5 A T 7: 23,135,335 (GRCm39) R1009* probably null Het
Or12d13 A T 17: 37,647,822 (GRCm39) H100Q probably damaging Het
Or4k15 T A 14: 50,364,894 (GRCm39) Y287N probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pak1ip1 A G 13: 41,161,621 (GRCm39) probably benign Het
Pcm1 T C 8: 41,712,297 (GRCm39) V189A probably damaging Het
Peak1 G T 9: 56,167,573 (GRCm39) N118K probably damaging Het
Phgdh T A 3: 98,235,655 (GRCm39) I121F probably damaging Het
Pi4ka G T 16: 17,127,261 (GRCm39) A1064E probably benign Het
Pkhd1 A C 1: 20,655,935 (GRCm39) C199W probably benign Het
Plat A G 8: 23,262,327 (GRCm39) D117G probably benign Het
Ppp2r2b C A 18: 42,821,526 (GRCm39) V211L possibly damaging Het
Ptgs1 A G 2: 36,127,294 (GRCm39) D60G probably damaging Het
Ryr2 T C 13: 11,715,240 (GRCm39) E2776G probably damaging Het
Sema4c C T 1: 36,592,059 (GRCm39) probably null Het
Sharpin T C 15: 76,231,811 (GRCm39) probably benign Het
Slamf6 A G 1: 171,764,100 (GRCm39) I164M possibly damaging Het
Slco1a7 A C 6: 141,713,180 (GRCm39) M67R possibly damaging Het
Spef1 A G 2: 131,015,201 (GRCm39) Y46H probably damaging Het
Spns1 G A 7: 125,973,501 (GRCm39) probably benign Het
Supt5 C T 7: 28,028,440 (GRCm39) probably null Het
Tbx5 T A 5: 119,974,987 (GRCm39) D3E probably damaging Het
Thbs1 T C 2: 117,951,718 (GRCm39) probably null Het
Tmem140 G A 6: 34,849,897 (GRCm39) V138M probably damaging Het
Tmem200a T A 10: 25,869,813 (GRCm39) D152V probably damaging Het
Tmem200b A G 4: 131,649,848 (GRCm39) D256G probably damaging Het
Tns1 A T 1: 73,992,023 (GRCm39) L885Q probably damaging Het
Umod G A 7: 119,071,644 (GRCm39) Q366* probably null Het
Vsir A G 10: 60,200,042 (GRCm39) I208V probably damaging Het
Zfp646 G A 7: 127,479,671 (GRCm39) R616H probably damaging Het
Other mutations in Cpne9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01472:Cpne9 APN 6 113,269,983 (GRCm39) missense possibly damaging 0.54
IGL02318:Cpne9 APN 6 113,270,699 (GRCm39) missense possibly damaging 0.74
IGL02800:Cpne9 APN 6 113,279,034 (GRCm39) missense probably benign 0.40
IGL02819:Cpne9 APN 6 113,277,624 (GRCm39) missense probably damaging 0.99
IGL03111:Cpne9 APN 6 113,277,571 (GRCm39) missense possibly damaging 0.79
measured UTSW 6 113,266,974 (GRCm39) missense probably damaging 0.98
prudence UTSW 6 113,261,406 (GRCm39) missense possibly damaging 0.69
PIT4366001:Cpne9 UTSW 6 113,271,707 (GRCm39) missense probably damaging 1.00
R0145:Cpne9 UTSW 6 113,277,562 (GRCm39) missense probably damaging 0.97
R0319:Cpne9 UTSW 6 113,271,654 (GRCm39) missense probably damaging 1.00
R0514:Cpne9 UTSW 6 113,266,974 (GRCm39) missense probably damaging 0.98
R0586:Cpne9 UTSW 6 113,272,024 (GRCm39) missense probably damaging 0.96
R0594:Cpne9 UTSW 6 113,267,361 (GRCm39) splice site probably benign
R1464:Cpne9 UTSW 6 113,271,698 (GRCm39) missense probably damaging 1.00
R1464:Cpne9 UTSW 6 113,271,698 (GRCm39) missense probably damaging 1.00
R4184:Cpne9 UTSW 6 113,259,418 (GRCm39) unclassified probably benign
R4243:Cpne9 UTSW 6 113,259,984 (GRCm39) unclassified probably benign
R4256:Cpne9 UTSW 6 113,259,984 (GRCm39) unclassified probably benign
R4258:Cpne9 UTSW 6 113,259,984 (GRCm39) unclassified probably benign
R4412:Cpne9 UTSW 6 113,266,962 (GRCm39) missense possibly damaging 0.78
R4690:Cpne9 UTSW 6 113,279,016 (GRCm39) missense probably damaging 1.00
R5249:Cpne9 UTSW 6 113,270,034 (GRCm39) splice site probably benign
R5437:Cpne9 UTSW 6 113,281,591 (GRCm39) unclassified probably benign
R5523:Cpne9 UTSW 6 113,267,192 (GRCm39) missense probably damaging 1.00
R5979:Cpne9 UTSW 6 113,270,710 (GRCm39) missense probably benign 0.44
R6207:Cpne9 UTSW 6 113,271,734 (GRCm39) missense possibly damaging 0.88
R6849:Cpne9 UTSW 6 113,279,079 (GRCm39) missense probably damaging 0.98
R6989:Cpne9 UTSW 6 113,277,544 (GRCm39) missense possibly damaging 0.95
R7376:Cpne9 UTSW 6 113,266,974 (GRCm39) missense probably damaging 0.98
R7524:Cpne9 UTSW 6 113,279,025 (GRCm39) missense probably damaging 1.00
R7631:Cpne9 UTSW 6 113,279,079 (GRCm39) missense possibly damaging 0.72
R7689:Cpne9 UTSW 6 113,266,965 (GRCm39) missense probably damaging 1.00
R7757:Cpne9 UTSW 6 113,261,406 (GRCm39) missense possibly damaging 0.69
R8134:Cpne9 UTSW 6 113,272,003 (GRCm39) missense probably benign 0.16
R8418:Cpne9 UTSW 6 113,260,398 (GRCm39) missense possibly damaging 0.95
R8810:Cpne9 UTSW 6 113,281,506 (GRCm39) missense probably damaging 0.99
R8833:Cpne9 UTSW 6 113,281,473 (GRCm39) missense probably damaging 1.00
R9174:Cpne9 UTSW 6 113,279,032 (GRCm39) missense probably damaging 1.00
R9503:Cpne9 UTSW 6 113,271,732 (GRCm39) missense possibly damaging 0.67
R9520:Cpne9 UTSW 6 113,281,413 (GRCm39) missense probably damaging 1.00
R9738:Cpne9 UTSW 6 113,267,401 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCATTCAGAAGGATGACATTCAAG -3'
(R):5'- TTAACTTCCAGCAGTGGGTAGAC -3'

Sequencing Primer
(F):5'- TACAGTGAAGCTAAAGAGACTCTC -3'
(R):5'- GTAGACAGGTAAGCAGACTGC -3'
Posted On 2016-06-06