Incidental Mutation 'PIT4812001:Pter'
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ID556892
Institutional Source Beutler Lab
Gene Symbol Pter
Ensembl Gene ENSMUSG00000026730
Gene Namephosphotriesterase related
SynonymsMpr56-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.214) question?
Stock #PIT4812001 (G1)
Quality Score225.009
Status Not validated
Chromosome2
Chromosomal Location12924041-13003455 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 12980368 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 170 (I170F)
Ref Sequence ENSEMBL: ENSMUSP00000117009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028063] [ENSMUST00000114796] [ENSMUST00000134794] [ENSMUST00000154269]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028063
AA Change: I170F

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028063
Gene: ENSMUSG00000026730
AA Change: I170F

DomainStartEndE-ValueType
Pfam:PTE 15 260 1.8e-105 PFAM
Pfam:TatD_DNase 66 252 3.5e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114796
AA Change: I102F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000110444
Gene: ENSMUSG00000026730
AA Change: I102F

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: I170F

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117009
Gene: ENSMUSG00000026730
AA Change: I170F

DomainStartEndE-ValueType
Pfam:PTE 15 347 1e-153 PFAM
Pfam:TatD_DNase 67 300 1.9e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000154269
AA Change: I170F

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118645
Gene: ENSMUSG00000026730
AA Change: I170F

DomainStartEndE-ValueType
Pfam:PTE 15 181 1e-66 PFAM
Coding Region Coverage
  • 1x: 93.8%
  • 3x: 91.0%
  • 10x: 85.3%
  • 20x: 73.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T C 18: 6,630,053 S252P possibly damaging Het
4933409G03Rik G A 2: 68,588,948 V14I probably benign Het
Adgrf5 T G 17: 43,450,369 V985G probably damaging Het
Ankrd44 A T 1: 54,723,038 Y542* probably null Het
Atp13a3 T C 16: 30,362,578 T75A probably damaging Het
Atr T C 9: 95,910,649 F1675L probably benign Het
Atrnl1 A G 19: 57,731,623 I1082V probably benign Het
C87977 A G 4: 144,209,516 I56T probably benign Het
Clip1 T A 5: 123,630,675 R620S probably benign Het
Cped1 T C 6: 22,122,294 F391S probably benign Het
Cracr2a T C 6: 127,625,870 L230P probably damaging Het
Dctn1 T A 6: 83,199,762 V1266E possibly damaging Het
Dlg1 T A 16: 31,846,885 F687I probably benign Het
Dnah8 C A 17: 30,708,445 D1358E probably benign Het
Dnajc11 A G 4: 151,952,889 R84G probably benign Het
Dnajc14 C A 10: 128,806,683 T158N probably damaging Het
Dscc1 A G 15: 55,082,261 L346P probably damaging Het
Efcab3 A G 11: 105,099,979 I71V probably null Het
Erbb3 T A 10: 128,574,379 Q670L possibly damaging Het
Ercc4 G A 16: 13,144,447 E652K probably benign Het
Ercc6l2 T A 13: 63,858,257 V591D possibly damaging Het
Fam126b T G 1: 58,548,703 D117A possibly damaging Het
Fam3c C T 6: 22,321,370 G134E probably damaging Het
Frmd5 A G 2: 121,586,446 V70A probably benign Het
Gjc1 A T 11: 102,800,981 Y65* probably null Het
Gm3033 A C 14: 3,848,891 L137F Het
Gria4 C A 9: 4,427,128 A771S probably damaging Het
Hc A G 2: 35,029,452 L674P probably benign Het
Hjurp CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT C 1: 88,266,277 probably benign Het
Inpp5f A T 7: 128,692,308 Y696F probably benign Het
Itga11 C A 9: 62,732,193 Q157K probably damaging Het
Itgb5 G T 16: 33,919,987 C489F probably damaging Het
Klhl38 C T 15: 58,322,542 G264S probably benign Het
Krt78 C T 15: 101,948,069 V436M probably damaging Het
Mia2 A T 12: 59,101,579 D75V possibly damaging Het
Mphosph6 T A 8: 117,799,149 Q20L probably damaging Het
Ogfr C T 2: 180,595,511 P630S possibly damaging Het
Olfr1206 G A 2: 88,864,970 V122M probably benign Het
Olfr1431 T G 19: 12,210,253 I229S probably damaging Het
Olfr15 A T 16: 3,839,530 K186* probably null Het
Pbx3 T C 2: 34,224,619 E101G probably damaging Het
Pcca T A 14: 122,790,382 N587K probably benign Het
Pdia3 G T 2: 121,433,530 A287S probably damaging Het
Pfas T A 11: 68,990,036 D209V Het
Ptprq A T 10: 107,666,567 V830E probably damaging Het
Rab11fip5 T C 6: 85,341,558 D783G probably benign Het
Rbm19 T C 5: 120,128,250 V446A possibly damaging Het
Selp A G 1: 164,132,263 N363D probably benign Het
Six2 C A 17: 85,685,301 S258I possibly damaging Het
Smc1b A G 15: 85,069,651 V1139A possibly damaging Het
Sp1 A G 15: 102,408,408 T121A possibly damaging Het
Sucla2 A T 14: 73,579,449 I210L possibly damaging Het
Trank1 T C 9: 111,347,912 L339P probably damaging Het
Ttll5 T A 12: 85,926,861 D794E probably benign Het
Usp32 C T 11: 85,010,074 V1107I probably damaging Het
Vmn1r195 T C 13: 22,278,863 Y168H probably benign Het
Vmn1r223 A G 13: 23,249,890 N218S probably damaging Het
Vmn2r25 T A 6: 123,823,488 S632C probably damaging Het
Vwa3a A T 7: 120,776,133 K390I probably damaging Het
Zfp442 A T 2: 150,409,741 C80* probably null Het
Zic1 A T 9: 91,364,341 I226N probably damaging Het
Other mutations in Pter
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0015:Pter UTSW 2 13001000 missense probably damaging 1.00
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
R7842:Pter UTSW 2 12978541 missense probably damaging 1.00
R7894:Pter UTSW 2 12994755 missense probably damaging 0.99
R8218:Pter UTSW 2 12980555 missense probably damaging 1.00
R8415:Pter UTSW 2 13000889 missense probably damaging 1.00
R8813:Pter UTSW 2 12980303 missense probably benign 0.32
R8862:Pter UTSW 2 12980530 missense probably damaging 1.00
Z1177:Pter UTSW 2 13000941 nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTAGCCAGTACTCACTAAGTCAG -3'
(R):5'- TTGGAGATGTCTGCTCCTGC -3'

Sequencing Primer
(F):5'- TGTCCAGTGAGCCCTTGGAATAC -3'
(R):5'- GCTTCTTGCAGTATACGGATTATC -3'
Posted On2019-06-07