Incidental Mutation 'R5707:Pter'
ID 452003
Institutional Source Beutler Lab
Gene Symbol Pter
Ensembl Gene ENSMUSG00000026730
Gene Name phosphotriesterase related
Synonyms Mpr56-1
MMRRC Submission 043332-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R5707 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 12928852-13008266 bp(+) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) T to C at 12982991 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028063] [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: 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
SMART Domains Protein: ENSMUSP00000117009
Gene: ENSMUSG00000026730

DomainStartEndE-ValueType
Pfam:PTE 15 347 1e-153 PFAM
Pfam:TatD_DNase 67 300 1.9e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150283
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: ENSMUST00000193742
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195521
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 97% (56/58)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,460,620 (GRCm39) L4210P probably damaging Het
Adcy6 T C 15: 98,496,622 (GRCm39) T518A probably damaging Het
Adgb C T 10: 10,267,501 (GRCm39) V940I probably damaging Het
Aqp11 A G 7: 97,386,635 (GRCm39) V187A possibly damaging Het
Arhgef15 A G 11: 68,845,541 (GRCm39) S104P probably damaging Het
Birc6 T A 17: 75,003,399 (GRCm39) N4762K probably damaging Het
Cacna1e T C 1: 154,509,463 (GRCm39) D264G probably damaging Het
Cela3b G T 4: 137,152,167 (GRCm39) Q97K probably damaging Het
Cenpc1 T A 5: 86,183,293 (GRCm39) R499W possibly damaging Het
Chct1 A G 11: 85,064,138 (GRCm39) N93S probably benign Het
Cnr1 C A 4: 33,944,330 (GRCm39) C239* probably null Het
Col6a2 T C 10: 76,446,865 (GRCm39) K348E possibly damaging Het
Ctnnb1 C A 9: 120,784,234 (GRCm39) L368I probably benign Het
Diras1 T C 10: 80,857,915 (GRCm39) E112G probably benign Het
Dop1a T A 9: 86,385,050 (GRCm39) M332K possibly damaging Het
Dpy19l1 T C 9: 24,325,563 (GRCm39) *747W probably null Het
Dydc2 T G 14: 40,783,911 (GRCm39) T71P probably damaging Het
Elapor2 A G 5: 9,491,698 (GRCm39) Y686C probably damaging Het
Ggt1 T A 10: 75,421,072 (GRCm39) I429N probably benign Het
Gm5114 G C 7: 39,060,700 (GRCm39) L50V probably benign Het
Gm5121 T G 9: 57,241,766 (GRCm39) noncoding transcript Het
Kidins220 A G 12: 25,063,390 (GRCm39) D933G probably damaging Het
Kirrel3 A G 9: 34,924,572 (GRCm39) K286R probably damaging Het
Klf5 T C 14: 99,538,944 (GRCm39) I39T probably benign Het
Krt14 C T 11: 100,095,584 (GRCm39) V274I possibly damaging Het
Meiob A G 17: 25,054,025 (GRCm39) D364G probably benign Het
Mroh7 T A 4: 106,539,082 (GRCm39) E1190D possibly damaging Het
Mtmr7 T C 8: 41,011,203 (GRCm39) E285G possibly damaging Het
Nhsl1 C T 10: 18,402,251 (GRCm39) T1159M probably damaging Het
Odad4 G A 11: 100,444,887 (GRCm39) A348T probably damaging Het
Or1af1 C A 2: 37,109,901 (GRCm39) N133K probably benign Het
Or1e23 G T 11: 73,407,451 (GRCm39) D191E probably damaging Het
Or2b2b A G 13: 21,858,769 (GRCm39) L115P probably damaging Het
Pcare G T 17: 72,058,567 (GRCm39) A370E possibly damaging Het
Pdlim5 T A 3: 142,010,060 (GRCm39) H294L probably damaging Het
Pdzd8 A T 19: 59,288,057 (GRCm39) D1114E probably benign Het
Phf20 T G 2: 156,138,691 (GRCm39) probably null Het
Plec C T 15: 76,083,871 (GRCm39) probably benign Het
Ppp1r18 T C 17: 36,178,128 (GRCm39) M1T probably null Het
Ppp4r3a G A 12: 101,024,770 (GRCm39) T243I probably damaging Het
Prss41 C T 17: 24,061,390 (GRCm39) V134I probably benign Het
Rasgef1b T G 5: 99,382,461 (GRCm39) K176N possibly damaging Het
Reps1 T A 10: 17,931,758 (GRCm39) D16E probably benign Het
Slc4a5 T A 6: 83,238,397 (GRCm39) D73E probably benign Het
Smgc A T 15: 91,744,861 (GRCm39) T146S possibly damaging Het
Sptbn1 A T 11: 30,093,174 (GRCm39) W396R possibly damaging Het
Stkld1 A G 2: 26,833,999 (GRCm39) E162G probably damaging Het
Tanc1 T C 2: 59,588,874 (GRCm39) F106L probably benign Het
Tarbp1 A G 8: 127,193,883 (GRCm39) Y340H probably damaging Het
Tenm2 T C 11: 35,938,009 (GRCm39) I1556V possibly damaging Het
Tmem64 T C 4: 15,266,288 (GRCm39) C113R probably damaging Het
Try4 T C 6: 41,281,977 (GRCm39) F188L possibly damaging Het
Ucn3 A G 13: 3,991,556 (GRCm39) V32A probably benign Het
Vmn2r83 T A 10: 79,327,183 (GRCm39) M597K possibly damaging Het
Wdr90 A G 17: 26,076,166 (GRCm39) V491A probably benign Het
Xylt1 T A 7: 117,255,717 (GRCm39) M763K possibly damaging Het
Zfp507 G T 7: 35,493,588 (GRCm39) A485E probably 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
R3437:Pter UTSW 2 13,005,805 (GRCm39) missense probably benign 0.01
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'- CACTTGGGGCAGATGACAAATG -3'
(R):5'- ACCTCCTGATTCAACTGAAGG -3'

Sequencing Primer
(F):5'- TGGGGCAGATGACAAATGAGGTC -3'
(R):5'- CAACTGAAGGTTCTCTCGATGG -3'
Posted On 2017-01-03