Incidental Mutation 'IGL02531:Enpp5'
ID297312
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 #IGL02531
Quality Score
Status
Chromosome17
Chromosomal Location44078813-44086567 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 44080952 bp
ZygosityHeterozygous
Amino Acid Change Valine to Phenylalanine at position 91 (V91F)
Ref Sequence ENSEMBL: ENSMUSP00000122767 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024756] [ENSMUST00000126032] [ENSMUST00000154166]
Predicted Effect probably damaging
Transcript: ENSMUST00000024756
AA Change: V91F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024756
Gene: ENSMUSG00000023960
AA Change: V91F

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 unknown
Transcript: ENSMUST00000126032
AA Change: L36F
Predicted Effect probably damaging
Transcript: ENSMUST00000154166
AA Change: V91F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122767
Gene: ENSMUSG00000023960
AA Change: V91F

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 C A 6: 86,956,447 H467N unknown Het
Alb A G 5: 90,467,448 D273G probably damaging Het
Arap3 A G 18: 37,989,751 S531P probably damaging Het
Bmpr2 T A 1: 59,845,714 probably null Het
Chd7 G A 4: 8,854,134 R1902H probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp2b13 A T 7: 26,061,605 H29L possibly damaging Het
Fam210b T C 2: 172,352,755 Y176H probably damaging Het
Fam83b T C 9: 76,492,000 E607G possibly damaging Het
Gm4788 T C 1: 139,774,569 K59R probably benign Het
Hhla1 C T 15: 65,967,407 probably benign Het
Kdm3b A G 18: 34,795,729 T178A probably benign Het
Klf1 T A 8: 84,904,808 F334I probably damaging Het
Klra8 A G 6: 130,118,970 S220P possibly damaging Het
Medag A G 5: 149,422,151 N99S probably benign Het
Muc6 T C 7: 141,636,940 T2607A possibly damaging Het
Mug2 T G 6: 122,072,771 L921R probably damaging Het
Nacad T C 11: 6,598,580 N1385D possibly damaging Het
Nin A G 12: 70,020,932 F1983L probably benign Het
Nipal4 T C 11: 46,151,325 I176M probably damaging Het
Orc6 T C 8: 85,303,369 S47P probably damaging Het
Ovch2 C T 7: 107,790,198 C341Y probably damaging Het
Polq T A 16: 37,062,374 H1633Q possibly damaging Het
Rab23 T C 1: 33,738,280 probably benign Het
Rai14 A G 15: 10,574,782 S697P probably damaging Het
Rnf213 T C 11: 119,436,802 F1872L probably benign Het
Sdhc T C 1: 171,136,018 H127R probably damaging Het
Snx9 T C 17: 5,891,820 V74A probably benign Het
Spata31d1d A G 13: 59,727,934 S596P possibly damaging Het
Syt14 T C 1: 192,901,934 *78W probably null Het
Thoc1 A G 18: 9,970,258 T203A probably benign Het
Trmt13 A G 3: 116,592,191 probably null Het
Ttc28 A G 5: 111,225,850 I1020V probably damaging Het
Vmn2r16 A G 5: 109,340,268 T336A probably damaging Het
Other mutations in Enpp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00583:Enpp5 APN 17 44085197 splice site probably benign
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
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 On2015-04-16