Incidental Mutation 'R1334:Enpp4'
ID 156826
Institutional Source Beutler Lab
Gene Symbol Enpp4
Ensembl Gene ENSMUSG00000023961
Gene Name ectonucleotide pyrophosphatase/phosphodiesterase 4
Synonyms LOC224794, 4933413N07Rik
MMRRC Submission 039399-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.218) question?
Stock # R1334 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 44407199-44416700 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 44413259 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 92 (V92L)
Ref Sequence ENSEMBL: ENSMUSP00000114429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024757] [ENSMUST00000143137]
AlphaFold Q8BTJ4
Predicted Effect probably benign
Transcript: ENSMUST00000024757
AA Change: V92L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000024757
Gene: ENSMUSG00000023961
AA Change: V92L

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Phosphodiest 31 342 9e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143137
AA Change: V92L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000114429
Gene: ENSMUSG00000023961
AA Change: V92L

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Phosphodiest 31 342 5.7e-80 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
Bnc2 T C 4: 84,194,526 (GRCm39) E933G possibly damaging Het
Ccdc69 A T 11: 54,943,805 (GRCm39) H75Q probably damaging Het
Ccdc81 C T 7: 89,515,769 (GRCm39) E637K probably benign Het
Cpa3 T C 3: 20,276,387 (GRCm39) E282G probably damaging Het
Cpxm1 G A 2: 130,235,483 (GRCm39) P503L probably damaging Het
Dnaaf9 C T 2: 130,617,642 (GRCm39) probably null Het
Dnah7b T C 1: 46,361,495 (GRCm39) F3465S probably damaging Het
Dnaja3 T C 16: 4,517,658 (GRCm39) S297P probably damaging Het
Fndc3b A T 3: 27,513,000 (GRCm39) Y709N probably damaging Het
H2-Eb2 T G 17: 34,553,324 (GRCm39) V170G probably damaging Het
Hmcn1 C T 1: 150,462,219 (GRCm39) G5153D possibly damaging Het
Ldah T C 12: 8,334,089 (GRCm39) probably null Het
Micu1 T C 10: 59,624,798 (GRCm39) L280P probably damaging Het
Mon1a A C 9: 107,778,562 (GRCm39) N262T probably damaging Het
Nim1k A G 13: 120,174,024 (GRCm39) I290T probably benign Het
Or1q1 A T 2: 36,886,872 (GRCm39) I17F probably benign Het
Or2a57 A G 6: 43,212,899 (GRCm39) Y119C probably benign Het
Or5aq6 T C 2: 86,923,571 (GRCm39) T57A probably damaging Het
Pcdhb12 C T 18: 37,569,724 (GRCm39) T290I probably damaging Het
Pkhd1 T G 1: 20,604,129 (GRCm39) D1187A possibly damaging Het
Primpol T C 8: 47,039,426 (GRCm39) Y398C probably damaging Het
Prob1 T C 18: 35,786,305 (GRCm39) T650A possibly damaging Het
Rasl12 G A 9: 65,318,151 (GRCm39) V172M probably damaging Het
Rgs5 G A 1: 169,510,386 (GRCm39) probably null Het
St14 T C 9: 31,019,506 (GRCm39) Y105C probably damaging Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Ttn T C 2: 76,575,387 (GRCm39) T16842A probably damaging Het
Ttn T C 2: 76,643,316 (GRCm39) E13201G probably damaging Het
Vwa5a C A 9: 38,646,037 (GRCm39) N468K probably benign Het
Other mutations in Enpp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01536:Enpp4 APN 17 44,410,494 (GRCm39) missense possibly damaging 0.56
IGL02150:Enpp4 APN 17 44,413,049 (GRCm39) missense probably benign 0.22
IGL02451:Enpp4 APN 17 44,412,315 (GRCm39) missense probably damaging 1.00
IGL02879:Enpp4 APN 17 44,412,841 (GRCm39) missense probably benign 0.00
R0005:Enpp4 UTSW 17 44,413,066 (GRCm39) missense probably benign 0.04
R0540:Enpp4 UTSW 17 44,410,386 (GRCm39) missense probably damaging 1.00
R0607:Enpp4 UTSW 17 44,410,386 (GRCm39) missense probably damaging 1.00
R0942:Enpp4 UTSW 17 44,412,772 (GRCm39) nonsense probably null
R1632:Enpp4 UTSW 17 44,410,544 (GRCm39) missense probably damaging 0.99
R2567:Enpp4 UTSW 17 44,412,736 (GRCm39) missense probably damaging 0.97
R4272:Enpp4 UTSW 17 44,412,698 (GRCm39) missense probably benign 0.01
R4273:Enpp4 UTSW 17 44,412,698 (GRCm39) missense probably benign 0.01
R4750:Enpp4 UTSW 17 44,413,246 (GRCm39) missense probably damaging 1.00
R6267:Enpp4 UTSW 17 44,413,371 (GRCm39) missense probably benign 0.00
R6296:Enpp4 UTSW 17 44,413,371 (GRCm39) missense probably benign 0.00
R7180:Enpp4 UTSW 17 44,412,928 (GRCm39) missense probably benign 0.03
R8036:Enpp4 UTSW 17 44,413,136 (GRCm39) missense possibly damaging 0.81
R8135:Enpp4 UTSW 17 44,412,226 (GRCm39) missense probably benign 0.00
R9168:Enpp4 UTSW 17 44,413,141 (GRCm39) missense probably damaging 0.99
R9209:Enpp4 UTSW 17 44,412,252 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCCAGTCTTTCCTTAAAGGACACGG -3'
(R):5'- GATAGCTCAGCACCTCGGTTACTTC -3'

Sequencing Primer
(F):5'- TTTCCTTAAAGGACACGGAGCTG -3'
(R):5'- ACTTCTGGTATCCTTTGACGG -3'
Posted On 2014-02-11