Incidental Mutation 'R5523:Cpne9'
ID 431669
Institutional Source Beutler Lab
Gene Symbol Cpne9
Ensembl Gene ENSMUSG00000030270
Gene Name copine family member IX
Synonyms A730016F12Rik
MMRRC Submission 043265-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.234) question?
Stock # R5523 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 113259244-113282532 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113267192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 169 (D169G)
Ref Sequence ENSEMBL: ENSMUSP00000044416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041203] [ENSMUST00000130191]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000041203
AA Change: D169G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044416
Gene: ENSMUSG00000030270
AA Change: D169G

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: ENSMUST00000130191
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132372
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134523
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136728
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204050
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.4%
  • 20x: 91.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm G A 3: 153,644,273 (GRCm39) T70M probably benign Het
Adamtsl3 G A 7: 82,223,650 (GRCm39) A218T possibly damaging Het
Ahnak2 T C 12: 112,741,642 (GRCm39) D810G probably damaging Het
Ak7 T A 12: 105,707,341 (GRCm39) L315* probably null Het
Apoa5 T C 9: 46,181,887 (GRCm39) F321S possibly damaging Het
Baiap2l1 G C 5: 144,212,768 (GRCm39) P416A probably damaging Het
Bco1 A G 8: 117,835,432 (GRCm39) I128V possibly damaging Het
Bpifb2 T C 2: 153,717,905 (GRCm39) probably benign Het
Cdt1 G A 8: 123,294,832 (GRCm39) R13H possibly damaging Het
Cenpj A G 14: 56,789,880 (GRCm39) V723A probably benign Het
Chl1 T A 6: 103,685,675 (GRCm39) W849R probably damaging Het
Cyp2d22 A G 15: 82,256,772 (GRCm39) V334A probably damaging Het
Cyp4f39 C A 17: 32,689,807 (GRCm39) N84K probably benign Het
Cyp4f40 T A 17: 32,888,796 (GRCm39) F192I probably damaging Het
Disp3 T C 4: 148,342,554 (GRCm39) D632G probably benign Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Echs1 G T 7: 139,692,426 (GRCm39) T107K probably benign Het
Ehmt2 C T 17: 35,118,067 (GRCm39) R40* probably null Het
Ergic1 G A 17: 26,843,580 (GRCm39) V17I probably damaging Het
Fank1 G T 7: 133,478,569 (GRCm39) C210F probably damaging Het
Fbxo15 T G 18: 84,978,194 (GRCm39) M136R probably damaging Het
Ggcx C A 6: 72,401,017 (GRCm39) P240H probably damaging Het
Gpr179 T C 11: 97,227,608 (GRCm39) R1516G probably benign Het
Gprin3 G A 6: 59,330,931 (GRCm39) Q459* probably null Het
Hadha C A 5: 30,350,252 (GRCm39) V99F possibly damaging Het
Hirip3 A G 7: 126,463,034 (GRCm39) D330G possibly damaging Het
Irx2 T C 13: 72,779,714 (GRCm39) W333R probably damaging Het
Kansl1l T C 1: 66,841,271 (GRCm39) T10A probably benign Het
Kcnd2 T C 6: 21,723,211 (GRCm39) I467T probably benign Het
Klc3 A T 7: 19,130,932 (GRCm39) I215N probably damaging Het
Kmt2c A G 5: 25,504,337 (GRCm39) V3657A probably benign Het
Lin28b A T 10: 45,345,164 (GRCm39) L54* probably null Het
Mgll T C 6: 88,702,743 (GRCm39) V14A probably benign Het
Mrc2 A G 11: 105,234,408 (GRCm39) N976S probably benign Het
Myh8 C A 11: 67,196,788 (GRCm39) A1807E possibly damaging Het
Nalcn G A 14: 123,647,155 (GRCm39) P573S probably damaging Het
Ncam2 C T 16: 81,231,766 (GRCm39) R77* probably null Het
Neb T C 2: 52,168,827 (GRCm39) S1903G probably benign Het
Nfe2 T A 15: 103,157,556 (GRCm39) D145V probably damaging Het
Or52a20 T A 7: 103,366,687 (GRCm39) Y295* probably null Het
Padi1 A T 4: 140,542,164 (GRCm39) V586D probably damaging Het
Pcdh12 T C 18: 38,416,192 (GRCm39) D311G probably damaging Het
Pcdha11 A T 18: 37,145,439 (GRCm39) H510L probably damaging Het
Plcb1 C A 2: 135,102,486 (GRCm39) P221H probably benign Het
Plekhg2 A T 7: 28,069,856 (GRCm39) V58E probably damaging Het
Pparg A C 6: 115,467,032 (GRCm39) Q435P probably damaging Het
Ppp1r36 A G 12: 76,484,892 (GRCm39) T282A possibly damaging Het
Prcd T C 11: 116,559,110 (GRCm39) probably benign Het
Pygo1 A T 9: 72,852,266 (GRCm39) H151L possibly damaging Het
Rnmt A G 18: 68,446,773 (GRCm39) Y266C probably benign Het
Rxrb T C 17: 34,255,411 (GRCm39) V246A probably damaging Het
Sart1 A G 19: 5,433,704 (GRCm39) S378P probably damaging Het
Sema4d T C 13: 51,865,390 (GRCm39) N318S possibly damaging Het
Sis C T 3: 72,798,754 (GRCm39) V1765I probably benign Het
Slc17a6 A T 7: 51,276,598 (GRCm39) K116* probably null Het
Smc6 T A 12: 11,341,540 (GRCm39) H519Q probably benign Het
Sowahc T A 10: 59,058,785 (GRCm39) M307K probably benign Het
Sptbn1 A G 11: 30,087,560 (GRCm39) Y960H probably damaging Het
Tmem270 A C 5: 134,931,636 (GRCm39) V102G probably benign Het
Tmprss11d A G 5: 86,486,729 (GRCm39) F54L probably benign Het
Top1 T A 2: 160,544,695 (GRCm39) Y270* probably null Het
Trpm2 A G 10: 77,771,795 (GRCm39) F615L probably benign Het
Ttf2 A G 3: 100,866,558 (GRCm39) S525P probably damaging Het
Ttn A T 2: 76,777,241 (GRCm39) M1387K possibly damaging Het
Upk3bl A T 5: 136,088,954 (GRCm39) R156W probably damaging Het
Usp34 G T 11: 23,299,198 (GRCm39) R290L probably benign Het
Vwf T C 6: 125,620,005 (GRCm39) V1561A Het
Zan A G 5: 137,420,155 (GRCm39) I2834T unknown Het
Zfp105 A G 9: 122,755,454 (GRCm39) Y90C probably benign Het
Zfp804a T C 2: 82,089,339 (GRCm39) V1056A probably damaging Het
Zfp956 A T 6: 47,930,455 (GRCm39) probably benign 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
R5062:Cpne9 UTSW 6 113,281,449 (GRCm39) missense probably damaging 0.99
R5249:Cpne9 UTSW 6 113,270,034 (GRCm39) splice site probably benign
R5437:Cpne9 UTSW 6 113,281,591 (GRCm39) unclassified probably benign
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'- AGTGTGGGACCATACTGCTG -3'
(R):5'- TGTGGCAGATGGTGAACCTG -3'

Sequencing Primer
(F):5'- TCAGTGCGGGCCATATGCTAG -3'
(R):5'- CAGATGGTGAACCTGGAGGG -3'
Posted On 2016-10-05