Incidental Mutation 'R7115:Pxylp1'
ID 551732
Institutional Source Beutler Lab
Gene Symbol Pxylp1
Ensembl Gene ENSMUSG00000043587
Gene Name 2-phosphoxylose phosphatase 1
Synonyms 9430094M07Rik, Acpl2, C130099A20Rik
MMRRC Submission 045206-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7115 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 96823336-96892669 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 96825010 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 373 (T373I)
Ref Sequence ENSEMBL: ENSMUSP00000077571 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078478] [ENSMUST00000112951] [ENSMUST00000119141] [ENSMUST00000120101] [ENSMUST00000121077] [ENSMUST00000126411]
AlphaFold Q8BHA9
Predicted Effect probably benign
Transcript: ENSMUST00000078478
AA Change: T373I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000077571
Gene: ENSMUSG00000043587
AA Change: T373I

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 49 61 N/A INTRINSIC
Pfam:His_Phos_2 87 424 1.5e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112951
AA Change: T373I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000108574
Gene: ENSMUSG00000043587
AA Change: T373I

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 49 61 N/A INTRINSIC
Pfam:His_Phos_2 87 424 2.1e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119141
AA Change: T373I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000113489
Gene: ENSMUSG00000043587
AA Change: T373I

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 49 61 N/A INTRINSIC
Pfam:His_Phos_2 87 424 2.1e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120101
AA Change: T373I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000113210
Gene: ENSMUSG00000043587
AA Change: T373I

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 49 61 N/A INTRINSIC
Pfam:His_Phos_2 87 424 2.1e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121077
SMART Domains Protein: ENSMUSP00000113059
Gene: ENSMUSG00000043587

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 49 61 N/A INTRINSIC
Pfam:His_Phos_2 87 180 1.4e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126411
SMART Domains Protein: ENSMUSP00000121537
Gene: ENSMUSG00000043587

DomainStartEndE-ValueType
Pfam:His_Phos_2 10 160 5e-23 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T A 16: 14,437,725 (GRCm38) I636N probably benign Het
Adam5 A G 8: 24,781,696 (GRCm38) I565T possibly damaging Het
Amd2 C A 10: 35,711,637 (GRCm38) probably benign Het
Ap5m1 T A 14: 49,086,270 (GRCm38) Y472* probably null Het
Apcdd1 T C 18: 62,936,953 (GRCm38) F97S probably damaging Het
Axdnd1 T C 1: 156,380,876 (GRCm38) K267R Het
BC067074 T G 13: 113,320,776 (GRCm38) S1119A Het
Carf G T 1: 60,148,150 (GRCm38) L637F probably damaging Het
Ccdc103 A T 11: 102,883,810 (GRCm38) S95C possibly damaging Het
Cfap20 T C 8: 95,421,246 (GRCm38) I156V probably benign Het
Csn1s2a T C 5: 87,781,805 (GRCm38) C96R probably benign Het
Ctif CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC 18: 75,471,803 (GRCm38) probably benign Het
Dennd2a G A 6: 39,506,711 (GRCm38) T405M probably damaging Het
Dennd5a A G 7: 109,894,754 (GRCm38) Y1248H probably damaging Het
Dnah14 A T 1: 181,720,145 (GRCm38) K2504N probably damaging Het
Dnajb2 G A 1: 75,243,662 (GRCm38) G275D Het
Elf3 T G 1: 135,257,118 (GRCm38) D110A probably damaging Het
Eomes A G 9: 118,484,489 (GRCm38) N534S probably benign Het
Fry A T 5: 150,386,067 (GRCm38) R659W probably damaging Het
Gm10428 G A 11: 62,753,380 (GRCm38) C94Y unknown Het
Gm2696 T A 10: 77,836,299 (GRCm38) C111S unknown Het
Gpt2 G A 8: 85,518,052 (GRCm38) E325K probably benign Het
Lrp1b T A 2: 40,998,235 (GRCm38) N2338Y Het
Map2k1 A G 9: 64,212,606 (GRCm38) I139T probably damaging Het
Olfr44 T C 9: 39,484,648 (GRCm38) I202V probably benign Het
Olfr964-ps1 T C 9: 39,686,707 (GRCm38) Y79C probably benign Het
Ranbp9 T C 13: 43,406,671 (GRCm38) N484S probably benign Het
Rassf5 A G 1: 131,181,249 (GRCm38) V293A probably benign Het
Ring1 A G 17: 34,023,446 (GRCm38) I29T probably damaging Het
Scn1a G A 2: 66,324,618 (GRCm38) Q666* probably null Het
Spice1 G A 16: 44,379,275 (GRCm38) G697R probably benign Het
Tas2r131 A G 6: 132,957,604 (GRCm38) F81L probably benign Het
Tenm2 G A 11: 36,163,817 (GRCm38) S572L probably damaging Het
Tfr2 A G 5: 137,571,715 (GRCm38) T128A probably benign Het
Trim56 T A 5: 137,113,660 (GRCm38) Q334L probably damaging Het
Vmn2r44 T A 7: 8,367,528 (GRCm38) R840* probably null Het
Other mutations in Pxylp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02315:Pxylp1 APN 9 96,839,143 (GRCm38) missense probably damaging 1.00
IGL03031:Pxylp1 APN 9 96,825,142 (GRCm38) missense probably benign 0.33
R4665:Pxylp1 UTSW 9 96,825,285 (GRCm38) missense probably damaging 0.99
R5064:Pxylp1 UTSW 9 96,854,800 (GRCm38) intron probably benign
R5749:Pxylp1 UTSW 9 96,856,371 (GRCm38) missense possibly damaging 0.85
R5943:Pxylp1 UTSW 9 96,839,150 (GRCm38) missense probably damaging 1.00
R5950:Pxylp1 UTSW 9 96,839,126 (GRCm38) missense probably damaging 1.00
R6104:Pxylp1 UTSW 9 96,824,747 (GRCm38) missense possibly damaging 0.80
R6334:Pxylp1 UTSW 9 96,825,254 (GRCm38) missense probably damaging 0.99
R7057:Pxylp1 UTSW 9 96,825,050 (GRCm38) missense probably benign 0.01
R7475:Pxylp1 UTSW 9 96,856,367 (GRCm38) critical splice donor site probably null
R8258:Pxylp1 UTSW 9 96,825,580 (GRCm38) missense probably benign 0.01
R8259:Pxylp1 UTSW 9 96,825,580 (GRCm38) missense probably benign 0.01
R8307:Pxylp1 UTSW 9 96,839,084 (GRCm38) critical splice donor site probably null
R8967:Pxylp1 UTSW 9 96,825,271 (GRCm38) missense probably damaging 1.00
R9215:Pxylp1 UTSW 9 96,825,058 (GRCm38) missense possibly damaging 0.91
R9290:Pxylp1 UTSW 9 96,840,036 (GRCm38) missense probably damaging 0.99
R9709:Pxylp1 UTSW 9 96,828,977 (GRCm38) missense probably damaging 0.98
Z1176:Pxylp1 UTSW 9 96,824,956 (GRCm38) missense probably damaging 1.00
Z1177:Pxylp1 UTSW 9 96,824,937 (GRCm38) frame shift probably null
Z1177:Pxylp1 UTSW 9 96,824,936 (GRCm38) frame shift probably null
Predicted Primers PCR Primer
(F):5'- CTCAAGAGGACACATAGGCTTGG -3'
(R):5'- GCATGGAGCACTTCAAGGTG -3'

Sequencing Primer
(F):5'- AGAGCGCTTGTGGAAGTC -3'
(R):5'- GCACTTCAAGGTGATCAAGACGC -3'
Posted On 2019-05-15