Incidental Mutation 'R3437:Pter'
ID 267219
Institutional Source Beutler Lab
Gene Symbol Pter
Ensembl Gene ENSMUSG00000026730
Gene Name phosphotriesterase related
Synonyms Mpr56-1
MMRRC Submission 040655-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.145) question?
Stock # R3437 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 12928852-13008266 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 13005805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 326 (L326H)
Ref Sequence ENSEMBL: ENSMUSP00000117009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028063] [ENSMUST00000061545] [ENSMUST00000114796] [ENSMUST00000134794] [ENSMUST00000154269]
AlphaFold Q60866
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 benign
Transcript: ENSMUST00000134794
AA Change: L326H

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000117009
Gene: ENSMUSG00000026730
AA Change: L326H

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T G 6: 121,616,253 (GRCm39) L127R probably null Het
Ambp T C 4: 63,067,721 (GRCm39) E163G probably benign Het
Amy1 G A 3: 113,349,658 (GRCm39) A504V probably damaging Het
Angptl3 A T 4: 98,921,540 (GRCm39) K219N probably benign Het
Atp6v1g1 A G 4: 63,468,255 (GRCm39) N86S probably benign Het
Avl9 T C 6: 56,713,612 (GRCm39) V290A probably benign Het
Bad A G 19: 6,919,799 (GRCm39) R37G probably benign Het
Bicra T C 7: 15,723,223 (GRCm39) D98G possibly damaging Het
Cfap251 A G 5: 123,392,435 (GRCm39) probably benign Het
Col4a4 G A 1: 82,474,889 (GRCm39) T650M unknown Het
Cyp11b2 T C 15: 74,727,298 (GRCm39) R128G probably benign Het
Dst T C 1: 34,229,303 (GRCm39) S1974P probably damaging Het
Fabp1 T C 6: 71,178,595 (GRCm39) L24P probably benign Het
Flnb T C 14: 7,942,057 (GRCm38) V2345A probably damaging Het
Gmnc G T 16: 26,779,217 (GRCm39) H221Q probably benign Het
Homer1 T C 13: 93,502,929 (GRCm39) probably benign Het
Kit A G 5: 75,806,565 (GRCm39) D690G probably damaging Het
Lama2 C T 10: 26,877,231 (GRCm39) E2652K probably benign Het
Mc3r C T 2: 172,091,588 (GRCm39) T270I probably benign Het
Mrgpra3 A C 7: 47,239,314 (GRCm39) L204W probably damaging Het
Mroh1 C T 15: 76,317,808 (GRCm39) T839I possibly damaging Het
Naip2 T A 13: 100,291,419 (GRCm39) H1173L probably benign Het
Optc T C 1: 133,825,617 (GRCm39) D303G probably damaging Het
Or2n1d A G 17: 38,646,323 (GRCm39) I92V probably damaging Het
Or5af1 A T 11: 58,722,150 (GRCm39) M57L probably damaging Het
P4ha3 C T 7: 99,934,831 (GRCm39) A31V possibly damaging Het
Plch2 A G 4: 155,075,470 (GRCm39) probably null Het
Plpp2 A T 10: 79,363,647 (GRCm39) probably null Het
Polq A T 16: 36,882,699 (GRCm39) N1342I probably damaging Het
Pwwp2a C T 11: 43,597,015 (GRCm39) Q452* probably null Het
Slc8a2 T G 7: 15,892,810 (GRCm39) V824G probably damaging Het
Slfn2 A T 11: 82,960,390 (GRCm39) H123L probably benign Het
Tmem132e A G 11: 82,335,156 (GRCm39) Y654C probably damaging Het
Trim14 C T 4: 46,523,739 (GRCm39) V100I possibly damaging Het
Tro G A X: 149,429,252 (GRCm39) probably benign Het
Uspl1 T A 5: 149,151,507 (GRCm39) probably benign Het
Uty A G Y: 1,158,336 (GRCm39) I522T probably benign Het
Vmn1r120 A C 7: 20,787,582 (GRCm39) L43W probably damaging Het
Vmn2r16 A T 5: 109,478,362 (GRCm39) D39V probably damaging Het
Washc4 T A 10: 83,405,866 (GRCm39) I454N probably benign Het
Wnt16 T C 6: 22,298,133 (GRCm39) V333A probably damaging Het
Ylpm1 T C 12: 85,096,644 (GRCm39) probably null Het
Zfy1 A T Y: 726,357 (GRCm39) D469E possibly damaging Het
Other mutations in Pter
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4812001:Pter UTSW 2 12,985,179 (GRCm39) missense probably damaging 0.97
R0015:Pter UTSW 2 13,005,811 (GRCm39) missense probably damaging 1.00
R0015:Pter UTSW 2 13,005,811 (GRCm39) missense probably damaging 1.00
R0325:Pter UTSW 2 13,005,748 (GRCm39) missense probably damaging 1.00
R0383:Pter UTSW 2 13,005,753 (GRCm39) nonsense probably null
R1452:Pter UTSW 2 12,983,432 (GRCm39) splice site probably benign
R1538:Pter UTSW 2 12,983,417 (GRCm39) missense probably benign 0.02
R1699:Pter UTSW 2 12,999,572 (GRCm39) missense probably damaging 0.97
R2083:Pter UTSW 2 12,983,247 (GRCm39) missense probably damaging 1.00
R5707:Pter UTSW 2 12,982,991 (GRCm39) utr 5 prime probably benign
R6267:Pter UTSW 2 12,983,352 (GRCm39) missense probably damaging 1.00
R6298:Pter UTSW 2 12,983,205 (GRCm39) missense probably damaging 1.00
R6329:Pter UTSW 2 12,985,359 (GRCm39) missense probably damaging 1.00
R7842:Pter UTSW 2 12,983,352 (GRCm39) missense probably damaging 1.00
R7894:Pter UTSW 2 12,999,566 (GRCm39) missense probably damaging 0.99
R8218:Pter UTSW 2 12,985,366 (GRCm39) missense probably damaging 1.00
R8415:Pter UTSW 2 13,005,700 (GRCm39) missense probably damaging 1.00
R8813:Pter UTSW 2 12,985,114 (GRCm39) missense probably benign 0.32
R8862:Pter UTSW 2 12,985,341 (GRCm39) missense probably damaging 1.00
R9429:Pter UTSW 2 12,985,112 (GRCm39) missense probably benign 0.00
R9452:Pter UTSW 2 12,985,111 (GRCm39) missense probably benign 0.01
Z1177:Pter UTSW 2 13,005,752 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCACAGCATGTACAGGAGTG -3'
(R):5'- GTGACCATTCACCAGTTCTATGTAG -3'

Sequencing Primer
(F):5'- GTGAAAGGTAACATCTCACATGTG -3'
(R):5'- CATTCACCAGTTCTATGTAGACTGG -3'
Posted On 2015-02-18