Incidental Mutation 'R6021:Enpp5'
ID 478972
Institutional Source Beutler Lab
Gene Symbol Enpp5
Ensembl Gene ENSMUSG00000023960
Gene Name ectonucleotide pyrophosphatase/phosphodiesterase 5
Synonyms D17Abb1e
MMRRC Submission 044194-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6021 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 44389704-44397458 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44396210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 374 (Y374F)
Ref Sequence ENSEMBL: ENSMUSP00000122767 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024756] [ENSMUST00000126032] [ENSMUST00000154166]
AlphaFold Q9EQG7
Predicted Effect probably benign
Transcript: ENSMUST00000024756
AA Change: Y374F

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000024756
Gene: ENSMUSG00000023960
AA Change: Y374F

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
AA Change: Y374F

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000122767
Gene: ENSMUSG00000023960
AA Change: Y374F

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Phosphodiest 30 342 2.1e-86 PFAM
transmembrane domain 430 452 N/A INTRINSIC
Meta Mutation Damage Score 0.4169 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.2%
Validation Efficiency 94% (61/65)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427I04Rik A G 4: 123,754,509 (GRCm39) D141G possibly damaging Het
A1bg T C 15: 60,791,713 (GRCm39) E241G possibly damaging Het
Abca13 G A 11: 9,240,465 (GRCm39) W776* probably null Het
Akr1b10 T A 6: 34,369,309 (GRCm39) probably null Het
Aopep A G 13: 63,208,896 (GRCm39) T338A probably damaging Het
Atf7 T C 15: 102,465,908 (GRCm39) D84G probably benign Het
AW209491 C T 13: 14,812,365 (GRCm39) A406V probably benign Het
Azi2 T A 9: 117,876,487 (GRCm39) M1K probably null Het
Boc T A 16: 44,309,017 (GRCm39) M832L probably benign Het
Brix1 C T 15: 10,476,675 (GRCm39) R267H probably benign Het
Cacna1s T C 1: 136,034,225 (GRCm39) L1050P probably benign Het
Celsr2 G T 3: 108,308,561 (GRCm39) P1789T probably benign Het
Crebbp G A 16: 3,903,282 (GRCm39) R1986C probably damaging Het
Crtam T A 9: 40,901,477 (GRCm39) I150F probably damaging Het
Crybg1 G T 10: 43,873,534 (GRCm39) S1191R probably damaging Het
D630045J12Rik T C 6: 38,167,552 (GRCm39) T1017A probably benign Het
Dnah10 A G 5: 124,814,048 (GRCm39) E396G probably damaging Het
Fzd4 G A 7: 89,056,942 (GRCm39) A330T probably benign Het
Gabra5 A G 7: 57,157,740 (GRCm39) S25P probably benign Het
Get1 T C 16: 95,946,878 (GRCm39) probably benign Het
Ggps1 T C 13: 14,228,589 (GRCm39) Y198C probably damaging Het
Gm3173 A C 14: 15,728,458 (GRCm39) D39A probably damaging Het
Grm2 T C 9: 106,527,999 (GRCm39) D295G probably damaging Het
H2-T13 T G 17: 36,392,166 (GRCm39) E182A probably damaging Het
Igfbp5 A G 1: 72,902,363 (GRCm39) M208T possibly damaging Het
Ildr2 T A 1: 166,131,173 (GRCm39) M343K possibly damaging Het
Kif19b A T 5: 140,455,434 (GRCm39) M347L probably damaging Het
Loxhd1 A T 18: 77,499,946 (GRCm39) D120V probably damaging Het
Lrp1 T C 10: 127,413,883 (GRCm39) D1175G probably damaging Het
Lrp1b C A 2: 41,234,439 (GRCm39) D1171Y probably benign Het
Lrrc9 A T 12: 72,516,005 (GRCm39) I563F probably damaging Het
Ltbp3 A T 19: 5,803,708 (GRCm39) T798S probably benign Het
Msantd4 T A 9: 4,384,063 (GRCm39) V128E probably benign Het
Mtf2 A G 5: 108,229,003 (GRCm39) I69V possibly damaging Het
Myh10 T A 11: 68,699,688 (GRCm39) S1712T possibly damaging Het
Mylk3 A G 8: 86,091,442 (GRCm39) V121A possibly damaging Het
Ndufaf4 A G 4: 24,901,760 (GRCm39) N100D probably benign Het
Notch2 T C 3: 98,029,288 (GRCm39) F1017S probably damaging Het
Or4a27 G T 2: 88,559,294 (GRCm39) Y216* probably null Het
Or4a80 A C 2: 89,582,465 (GRCm39) S236A probably benign Het
Or4c108 G T 2: 88,803,376 (GRCm39) Y286* probably null Het
P2ry2 T C 7: 100,647,607 (GRCm39) T233A probably benign Het
Paip1 T "TTA,TT" 13: 119,593,671 (GRCm39) probably null Het
Pak1 T C 7: 97,503,670 (GRCm39) S2P probably damaging Het
Pde8b A T 13: 95,162,670 (GRCm39) D817E possibly damaging Het
Pfdn2 C A 1: 171,173,338 (GRCm39) probably benign Het
Pramel28 A T 4: 143,692,336 (GRCm39) C222S probably benign Het
Raver1 A G 9: 20,987,918 (GRCm39) L606P probably damaging Het
Robo3 C T 9: 37,333,829 (GRCm39) W668* probably null Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Het
Rxfp2 A G 5: 149,987,202 (GRCm39) N337S possibly damaging Het
Samhd1 T C 2: 156,962,474 (GRCm39) probably null Het
Sardh A G 2: 27,079,655 (GRCm39) V879A probably benign Het
Slc4a4 A T 5: 89,188,261 (GRCm39) probably benign Het
Slc6a11 T C 6: 114,207,012 (GRCm39) L332P probably damaging Het
Tas2r135 T C 6: 42,383,321 (GRCm39) Y287H probably damaging Het
Tlr4 T A 4: 66,759,103 (GRCm39) I632N probably damaging Het
Tmem145 C T 7: 25,008,270 (GRCm39) probably null Het
Trmt61a C A 12: 111,647,411 (GRCm39) F169L probably damaging Het
Trp53tg5 T A 2: 164,313,391 (GRCm39) I95L probably benign Het
Vmn1r85 T C 7: 12,818,616 (GRCm39) E176G probably benign Het
Vmn2r75 T C 7: 85,820,820 (GRCm39) D38G probably benign Het
Vmn2r99 A G 17: 19,598,210 (GRCm39) Y78C probably damaging Het
Zfp964 G T 8: 70,115,742 (GRCm39) S114I unknown Het
Other mutations in Enpp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00583:Enpp5 APN 17 44,396,088 (GRCm39) splice site probably benign
IGL01593:Enpp5 APN 17 44,391,612 (GRCm39) missense probably benign
IGL01654:Enpp5 APN 17 44,392,066 (GRCm39) missense possibly damaging 0.82
IGL02120:Enpp5 APN 17 44,391,736 (GRCm39) missense probably benign 0.04
IGL02142:Enpp5 APN 17 44,396,468 (GRCm39) missense probably benign 0.01
IGL02531:Enpp5 APN 17 44,391,843 (GRCm39) missense probably damaging 1.00
IGL02630:Enpp5 APN 17 44,393,766 (GRCm39) missense probably damaging 1.00
Cacao UTSW 17 44,396,467 (GRCm39) missense probably benign 0.00
canola UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R1101:Enpp5 UTSW 17 44,392,258 (GRCm39) missense possibly damaging 0.77
R2074:Enpp5 UTSW 17 44,396,264 (GRCm39) missense probably benign 0.25
R2679:Enpp5 UTSW 17 44,396,279 (GRCm39) missense probably damaging 1.00
R4739:Enpp5 UTSW 17 44,392,027 (GRCm39) missense probably damaging 1.00
R4817:Enpp5 UTSW 17 44,391,871 (GRCm39) makesense probably null
R5152:Enpp5 UTSW 17 44,392,024 (GRCm39) missense probably damaging 1.00
R6160:Enpp5 UTSW 17 44,392,259 (GRCm39) missense possibly damaging 0.77
R6330:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6385:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6387:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6452:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6454:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6461:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6462:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6463:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6469:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6470:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6471:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6473:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6505:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6563:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6564:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6760:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6812:Enpp5 UTSW 17 44,396,467 (GRCm39) missense probably benign 0.00
R6821:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6824:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6963:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6965:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R7169:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R7171:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R7375:Enpp5 UTSW 17 44,391,868 (GRCm39) missense probably benign 0.02
R7393:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R7394:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R7411:Enpp5 UTSW 17 44,392,366 (GRCm39) missense probably damaging 1.00
R7412:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R7446:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R7447:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R7560:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R7561:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R7589:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R7590:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R7591:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R8211:Enpp5 UTSW 17 44,392,402 (GRCm39) critical splice donor site probably null
R9256:Enpp5 UTSW 17 44,396,414 (GRCm39) missense probably benign 0.00
R9321:Enpp5 UTSW 17 44,393,689 (GRCm39) missense possibly damaging 0.72
Predicted Primers PCR Primer
(F):5'- ACTTGACCCTACGACAGTTTC -3'
(R):5'- TATGATGCTGCCAAGAGAGACAC -3'

Sequencing Primer
(F):5'- ACGACAGTTTCTTTCCCTTCTAATG -3'
(R):5'- GTAATAAGGGTACGATTCCTCTTGC -3'
Posted On 2017-06-26