Incidental Mutation 'R7566:Cpne7'
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ID585456
Institutional Source Beutler Lab
Gene Symbol Cpne7
Ensembl Gene ENSMUSG00000034796
Gene Namecopine VII
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7566 (G1)
Quality Score225.009
Status Validated
Chromosome8
Chromosomal Location123117374-123135182 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 123133813 bp
ZygosityHeterozygous
Amino Acid Change Valine to Phenylalanine at position 502 (V502F)
Ref Sequence ENSEMBL: ENSMUSP00000042159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037900] [ENSMUST00000127664]
Predicted Effect probably damaging
Transcript: ENSMUST00000037900
AA Change: V502F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042159
Gene: ENSMUSG00000034796
AA Change: V502F

DomainStartEndE-ValueType
low complexity region 8 17 N/A INTRINSIC
C2 21 127 7.18e-8 SMART
C2 142 259 5.92e-9 SMART
VWA 304 510 7.2e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (57/57)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T G 1: 11,951,028 S420R probably damaging Het
Acat2 C T 17: 12,947,459 D219N probably damaging Het
Anapc10 G A 8: 79,719,679 R46Q possibly damaging Het
Ankub1 G A 3: 57,665,618 R228* probably null Het
Arhgap21 T C 2: 20,912,291 N91S probably benign Het
Arhgap32 T A 9: 32,250,722 V323D probably benign Het
Bcas1 C T 2: 170,370,449 probably null Het
C530008M17Rik G A 5: 76,866,275 probably null Het
Cd109 C T 9: 78,680,837 P716S probably damaging Het
Chd4 C T 6: 125,101,903 P267L possibly damaging Het
Dlgap4 C T 2: 156,762,737 A921V probably benign Het
Faap24 G T 7: 35,393,040 R151S probably benign Het
Fam98a A G 17: 75,547,662 S51P probably damaging Het
Fbxl8 A G 8: 105,268,306 D150G possibly damaging Het
Fut10 A G 8: 31,259,922 K412R probably benign Het
G0s2 T C 1: 193,272,768 S3G probably benign Het
Gm1527 T C 3: 28,920,618 Y527H probably benign Het
Gsdmc3 T C 15: 63,861,661 K227R possibly damaging Het
Gtf2ird2 A G 5: 134,214,006 Y354C probably damaging Het
Hmcn2 T A 2: 31,454,857 N4685K probably damaging Het
Itgad A T 7: 128,192,107 Y717F probably benign Het
Kcnh5 C T 12: 75,114,392 W247* probably null Het
Kcnt1 C A 2: 25,916,036 S1212R probably benign Het
Kirrel A G 3: 87,088,484 V381A probably damaging Het
Loxl1 T A 9: 58,312,198 Q230L probably damaging Het
Magi1 T C 6: 93,678,327 E1446G probably benign Het
Man1a A G 10: 53,919,234 V550A possibly damaging Het
Mgat4d T C 8: 83,358,023 S132P probably damaging Het
Muc16 T A 9: 18,638,629 H5456L probably benign Het
Nhsl1 A G 10: 18,516,119 K207R probably damaging Het
Nlrp4a A C 7: 26,449,245 probably null Het
Nr6a1 T C 2: 38,731,073 M407V possibly damaging Het
Olfr1360 T G 13: 21,674,567 I126L possibly damaging Het
Olfr156 A G 4: 43,820,711 S217P probably damaging Het
Olfr30 G T 11: 58,455,663 F95L probably benign Het
Olfr776 T C 10: 129,261,600 I213T probably damaging Het
Ovgp1 A G 3: 105,974,310 probably benign Het
Ovol3 G T 7: 30,234,366 F110L probably damaging Het
Pcsk5 T C 19: 17,572,457 T724A probably benign Het
Phtf2 G T 5: 20,765,801 T653N probably damaging Het
Plch1 A T 3: 63,781,242 probably null Het
Prkce A T 17: 86,493,329 E391V probably benign Het
Prob1 A G 18: 35,654,985 V72A probably benign Het
Prrc2b C A 2: 32,194,390 P289Q probably benign Het
Ptbp3 A T 4: 59,514,280 N114K probably benign Het
Rho T A 6: 115,932,174 L57H probably damaging Het
Slc44a5 A C 3: 154,269,989 D679A probably damaging Het
Slit2 A T 5: 48,249,897 D898V probably damaging Het
Spag16 C T 1: 69,870,328 R195C probably damaging Het
Tmprss11a T G 5: 86,444,134 D60A possibly damaging Het
Ttn T A 2: 76,734,949 R28311S probably damaging Het
Wfikkn1 T C 17: 25,878,378 D324G probably damaging Het
Zan A C 5: 137,412,583 probably null Het
Zfp945 A T 17: 22,851,753 C412S possibly damaging Het
Other mutations in Cpne7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01919:Cpne7 APN 8 123125643 missense probably damaging 0.99
IGL02111:Cpne7 APN 8 123125653 intron probably benign
IGL02245:Cpne7 APN 8 123117618 missense probably damaging 1.00
IGL03000:Cpne7 APN 8 123126696 missense probably benign 0.07
R0501:Cpne7 UTSW 8 123126255 missense possibly damaging 0.95
R0727:Cpne7 UTSW 8 123126286 missense probably damaging 0.98
R1750:Cpne7 UTSW 8 123134524 missense probably damaging 1.00
R1991:Cpne7 UTSW 8 123127437 missense possibly damaging 0.94
R2103:Cpne7 UTSW 8 123127437 missense possibly damaging 0.94
R2219:Cpne7 UTSW 8 123124438 missense probably benign 0.12
R2350:Cpne7 UTSW 8 123124469 missense probably damaging 1.00
R2513:Cpne7 UTSW 8 123117667 splice site probably null
R4657:Cpne7 UTSW 8 123134575 makesense probably null
R4961:Cpne7 UTSW 8 123133759 missense probably damaging 0.99
R6148:Cpne7 UTSW 8 123127432 missense probably benign 0.00
R7712:Cpne7 UTSW 8 123124181 missense probably damaging 0.98
R8185:Cpne7 UTSW 8 123127429 missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- TACTGCTGATCCTCACGGAC -3'
(R):5'- TTTTAGGGTCAGAAGCTCACTG -3'

Sequencing Primer
(F):5'- ACGGACGGTGTGGTGAC -3'
(R):5'- TCAGGCAGCCGTCAGGG -3'
Posted On2019-10-17