Incidental Mutation 'R0015:Pter'
ID8332
Institutional Source Beutler Lab
Gene Symbol Pter
Ensembl Gene ENSMUSG00000026730
Gene Namephosphotriesterase related
SynonymsMpr56-1
MMRRC Submission 038310-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.210) question?
Stock #R0015 (G1)
Quality Score
Status Validated
Chromosome2
Chromosomal Location12924041-13003455 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 13001000 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 328 (G328D)
Ref Sequence ENSEMBL: ENSMUSP00000117009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028063] [ENSMUST00000061545] [ENSMUST00000114796] [ENSMUST00000134794] [ENSMUST00000154269]
Predicted Effect probably benign
Transcript: ENSMUST00000028063
SMART Domains Protein: ENSMUSP00000028063
Gene: ENSMUSG00000026730

DomainStartEndE-ValueType
Pfam:PTE 15 260 1.8e-105 PFAM
Pfam:TatD_DNase 66 252 3.5e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000061545
SMART Domains Protein: ENSMUSP00000056188
Gene: ENSMUSG00000049630

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Collagen 59 116 2.6e-11 PFAM
C1Q 120 255 2.92e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114796
SMART Domains Protein: ENSMUSP00000110444
Gene: ENSMUSG00000026730

DomainStartEndE-ValueType
Pfam:PTE 15 62 1.9e-13 PFAM
Pfam:PTE 52 253 4.6e-87 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000134794
AA Change: G328D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117009
Gene: ENSMUSG00000026730
AA Change: G328D

DomainStartEndE-ValueType
Pfam:PTE 15 347 1e-153 PFAM
Pfam:TatD_DNase 67 300 1.9e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154269
SMART Domains Protein: ENSMUSP00000118645
Gene: ENSMUSG00000026730

DomainStartEndE-ValueType
Pfam:PTE 15 181 1e-66 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193430
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195521
Meta Mutation Damage Score 0.5983 question?
Coding Region Coverage
  • 1x: 80.5%
  • 3x: 72.2%
  • 10x: 49.0%
  • 20x: 28.4%
Validation Efficiency 90% (88/98)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik G A 15: 8,186,184 R408H probably damaging Het
A130050O07Rik A G 1: 137,928,656 Y23C unknown Het
Aadat C T 8: 60,534,571 probably benign Het
Adcy3 G A 12: 4,195,260 probably null Het
Armc3 A G 2: 19,296,321 probably null Het
Astn2 T G 4: 66,266,382 probably null Het
Borcs8 T C 8: 70,140,367 probably benign Het
Cacna1d G A 14: 30,114,971 T804I probably benign Het
Card19 A G 13: 49,208,056 L33P probably benign Het
Ccny A C 18: 9,316,682 probably benign Het
Cdh5 C T 8: 104,140,927 T612I probably benign Het
Cfap58 A G 19: 48,029,100 M800V probably benign Het
Clrn1 A T 3: 58,846,427 I171K probably damaging Het
Cnp T A 11: 100,578,908 probably null Het
Col12a1 T C 9: 79,651,385 T1933A probably damaging Het
Cwf19l2 A G 9: 3,454,666 S660G probably benign Het
Dync1i2 C A 2: 71,214,484 R13S probably damaging Het
Fat4 T A 3: 38,982,503 S3435T probably damaging Het
Fchsd1 A G 18: 37,962,959 C533R probably benign Het
Fstl5 G A 3: 76,322,191 V100M probably damaging Het
Gria2 C T 3: 80,707,767 G469S probably damaging Het
Hsf5 C A 11: 87,657,335 H615N probably benign Het
Ints2 T C 11: 86,249,287 T240A probably damaging Het
Kcnn3 A C 3: 89,662,773 D631A probably damaging Het
Lama4 C T 10: 39,075,436 T1059M possibly damaging Het
Lgals8 A G 13: 12,447,298 L226P probably damaging Het
Lonp1 T A 17: 56,618,406 Q462L probably benign Het
Mark2 A T 19: 7,285,777 Y231* probably null Het
Mdh1b T C 1: 63,721,800 probably benign Het
Myh7b C T 2: 155,622,286 P569L probably damaging Het
Myl3 A C 9: 110,767,929 D119A probably damaging Het
Ncapd3 C A 9: 27,051,809 A470E probably damaging Het
Ndrg2 A G 14: 51,910,445 probably benign Het
Nprl2 A T 9: 107,544,419 I209F probably damaging Het
Pcf11 T A 7: 92,658,317 H881L probably benign Het
Pde10a A G 17: 8,977,197 D640G probably damaging Het
Pdxdc1 A T 16: 13,887,683 probably benign Het
Polr2g A G 19: 8,793,652 I160T probably damaging Het
Rad51 T A 2: 119,116,327 M5K probably benign Het
Rbm43 T A 2: 51,925,667 I181F probably benign Het
Rgs12 T C 5: 35,022,776 probably benign Het
Slc20a2 C A 8: 22,535,345 A21E probably damaging Het
Sybu T C 15: 44,673,500 R349G probably damaging Het
Tmem161b C A 13: 84,222,414 probably null Het
Xirp2 C A 2: 67,510,899 Y1161* probably null Het
Zfand4 C A 6: 116,328,297 T705K probably damaging Het
Other mutations in Pter
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4812001:Pter UTSW 2 12980368 missense probably damaging 0.97
R0015:Pter UTSW 2 13001000 missense probably damaging 1.00
R0325:Pter UTSW 2 13000937 missense probably damaging 1.00
R0383:Pter UTSW 2 13000942 nonsense probably null
R1452:Pter UTSW 2 12978621 splice site probably benign
R1538:Pter UTSW 2 12978606 missense probably benign 0.02
R1699:Pter UTSW 2 12994761 missense probably damaging 0.97
R2083:Pter UTSW 2 12978436 missense probably damaging 1.00
R3437:Pter UTSW 2 13000994 missense probably benign 0.01
R5707:Pter UTSW 2 12978180 utr 5 prime probably benign
R6267:Pter UTSW 2 12978541 missense probably damaging 1.00
R6298:Pter UTSW 2 12978394 missense probably damaging 1.00
R6329:Pter UTSW 2 12980548 missense probably damaging 1.00
Posted On2012-11-21