Incidental Mutation 'IGL00583:Enpp5'
ID3847
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Enpp5
Ensembl Gene ENSMUSG00000023960
Gene Nameectonucleotide pyrophosphatase/phosphodiesterase 5
SynonymsD17Abb1e
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00583
Quality Score
Status
Chromosome17
Chromosomal Location44078813-44086567 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 44085197 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122767 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024756] [ENSMUST00000126032] [ENSMUST00000154166]
Predicted Effect probably benign
Transcript: ENSMUST00000024756
SMART Domains Protein: ENSMUSP00000024756
Gene: ENSMUSG00000023960

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Phosphodiest 30 342 7.1e-91 PFAM
transmembrane domain 430 452 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126032
Predicted Effect probably benign
Transcript: ENSMUST00000154166
SMART Domains Protein: ENSMUSP00000122767
Gene: ENSMUSG00000023960

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Phosphodiest 30 342 2.1e-86 PFAM
transmembrane domain 430 452 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type-I transmembrane glycoprotein. Studies in rat suggest the encoded protein may play a role in neuronal cell communications. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2014]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 C T 13: 104,297,218 Q52* probably null Het
Ambp G T 4: 63,154,018 A13D possibly damaging Het
Angptl3 A G 4: 99,034,840 T283A probably damaging Het
Atp13a5 A T 16: 29,275,453 probably benign Het
Borcs8 A G 8: 70,145,107 H93R probably benign Het
Bzw1 T C 1: 58,401,335 probably benign Het
Cd200 A C 16: 45,397,109 I73R probably damaging Het
Coq8a T C 1: 180,168,389 D528G probably benign Het
Edem1 T A 6: 108,855,559 probably benign Het
Eprs G T 1: 185,407,148 C910F probably benign Het
Erich6 T C 3: 58,637,043 E41G unknown Het
Gls2 A G 10: 128,204,882 M340V probably benign Het
Gna12 A T 5: 140,761,018 V224E probably damaging Het
Golph3l T C 3: 95,589,103 L46P possibly damaging Het
Limch1 T C 5: 66,953,679 I83T probably damaging Het
Mas1 T C 17: 12,841,965 I190M possibly damaging Het
Mefv T A 16: 3,716,072 K112* probably null Het
Oas1e T A 5: 120,794,272 E102V probably damaging Het
Pde6a T C 18: 61,257,268 C521R probably damaging Het
Pigw A G 11: 84,877,888 V205A possibly damaging Het
Ptpn21 G A 12: 98,733,601 S18F probably damaging Het
Shprh C T 10: 11,188,020 T1279I probably benign Het
Slc11a2 T C 15: 100,397,737 E501G probably benign Het
Sult2a3 T A 7: 14,122,980 Y5F probably benign Het
Tll1 A G 8: 64,205,292 L31P probably benign Het
Tubgcp3 G A 8: 12,621,906 Q779* probably null Het
U2surp T A 9: 95,461,524 probably benign Het
Other mutations in Enpp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01593:Enpp5 APN 17 44080721 missense probably benign
IGL01654:Enpp5 APN 17 44081175 missense possibly damaging 0.82
IGL02120:Enpp5 APN 17 44080845 missense probably benign 0.04
IGL02142:Enpp5 APN 17 44085577 missense probably benign 0.01
IGL02531:Enpp5 APN 17 44080952 missense probably damaging 1.00
IGL02630:Enpp5 APN 17 44082875 missense probably damaging 1.00
Cacao UTSW 17 44085576 missense probably benign 0.00
canola UTSW 17 44085264 missense probably damaging 1.00
R1101:Enpp5 UTSW 17 44081367 missense possibly damaging 0.77
R2074:Enpp5 UTSW 17 44085373 missense probably benign 0.25
R2679:Enpp5 UTSW 17 44085388 missense probably damaging 1.00
R4739:Enpp5 UTSW 17 44081136 missense probably damaging 1.00
R4817:Enpp5 UTSW 17 44080980 makesense probably null
R5152:Enpp5 UTSW 17 44081133 missense probably damaging 1.00
R6021:Enpp5 UTSW 17 44085319 missense probably benign 0.22
R6160:Enpp5 UTSW 17 44081368 missense possibly damaging 0.77
R6330:Enpp5 UTSW 17 44085264 missense probably damaging 1.00
R6385:Enpp5 UTSW 17 44085264 missense probably damaging 1.00
R6387:Enpp5 UTSW 17 44085264 missense probably damaging 1.00
R6452:Enpp5 UTSW 17 44085264 missense probably damaging 1.00
R6454:Enpp5 UTSW 17 44085264 missense probably damaging 1.00
R6461:Enpp5 UTSW 17 44085264 missense probably damaging 1.00
R6462:Enpp5 UTSW 17 44085264 missense probably damaging 1.00
R6463:Enpp5 UTSW 17 44085264 missense probably damaging 1.00
R6469:Enpp5 UTSW 17 44085264 missense probably damaging 1.00
R6470:Enpp5 UTSW 17 44085264 missense probably damaging 1.00
R6471:Enpp5 UTSW 17 44085264 missense probably damaging 1.00
R6473:Enpp5 UTSW 17 44085264 missense probably damaging 1.00
R6505:Enpp5 UTSW 17 44085264 missense probably damaging 1.00
R6563:Enpp5 UTSW 17 44085264 missense probably damaging 1.00
R6564:Enpp5 UTSW 17 44085264 missense probably damaging 1.00
R6760:Enpp5 UTSW 17 44085264 missense probably damaging 1.00
R6812:Enpp5 UTSW 17 44085576 missense probably benign 0.00
R6821:Enpp5 UTSW 17 44085264 missense probably damaging 1.00
R6824:Enpp5 UTSW 17 44085264 missense probably damaging 1.00
R6963:Enpp5 UTSW 17 44085264 missense probably damaging 1.00
R6965:Enpp5 UTSW 17 44085264 missense probably damaging 1.00
R7169:Enpp5 UTSW 17 44085264 missense probably damaging 1.00
R7171:Enpp5 UTSW 17 44085264 missense probably damaging 1.00
R7375:Enpp5 UTSW 17 44080977 missense probably benign 0.02
R7393:Enpp5 UTSW 17 44085264 missense probably damaging 1.00
R7394:Enpp5 UTSW 17 44085264 missense probably damaging 1.00
R7411:Enpp5 UTSW 17 44081475 missense probably damaging 1.00
R7412:Enpp5 UTSW 17 44085264 missense probably damaging 1.00
R7446:Enpp5 UTSW 17 44085264 missense probably damaging 1.00
R7447:Enpp5 UTSW 17 44085264 missense probably damaging 1.00
R7560:Enpp5 UTSW 17 44085264 missense probably damaging 1.00
R7561:Enpp5 UTSW 17 44085264 missense probably damaging 1.00
R7589:Enpp5 UTSW 17 44085264 missense probably damaging 1.00
R7590:Enpp5 UTSW 17 44085264 missense probably damaging 1.00
R7591:Enpp5 UTSW 17 44085264 missense probably damaging 1.00
R8211:Enpp5 UTSW 17 44081511 critical splice donor site probably null
Posted On2012-04-20