Incidental Mutation 'R6334:Pxylp1'
ID 510712
Institutional Source Beutler Lab
Gene Symbol Pxylp1
Ensembl Gene ENSMUSG00000043587
Gene Name 2-phosphoxylose phosphatase 1
Synonyms Acpl2, C130099A20Rik, 9430094M07Rik
MMRRC Submission 044488-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6334 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 96705389-96774722 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 96707307 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Proline at position 292 (A292P)
Ref Sequence ENSEMBL: ENSMUSP00000113210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078478] [ENSMUST00000112951] [ENSMUST00000119141] [ENSMUST00000120101] [ENSMUST00000121077] [ENSMUST00000126411]
AlphaFold Q8BHA9
Predicted Effect probably damaging
Transcript: ENSMUST00000078478
AA Change: A292P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000077571
Gene: ENSMUSG00000043587
AA Change: A292P

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 damaging
Transcript: ENSMUST00000112951
AA Change: A292P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108574
Gene: ENSMUSG00000043587
AA Change: A292P

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 damaging
Transcript: ENSMUST00000119141
AA Change: A292P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113489
Gene: ENSMUSG00000043587
AA Change: A292P

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 damaging
Transcript: ENSMUST00000120101
AA Change: A292P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113210
Gene: ENSMUSG00000043587
AA Change: A292P

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
Meta Mutation Damage Score 0.5037 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T A 11: 58,770,940 (GRCm39) S141T probably benign Het
Afap1l2 A G 19: 56,906,408 (GRCm39) probably null Het
Aox1 C T 1: 58,346,566 (GRCm39) Q567* probably null Het
Aqp4 T A 18: 15,526,648 (GRCm39) M278L probably benign Het
Atp23 A C 10: 126,723,538 (GRCm39) L188R probably benign Het
Catsperg1 C T 7: 28,905,782 (GRCm39) G215D probably benign Het
Cavin4 T C 4: 48,663,824 (GRCm39) V68A possibly damaging Het
Ccl4 T C 11: 83,553,504 (GRCm39) S6P unknown Het
Cfap46 T C 7: 139,260,747 (GRCm39) E117G probably damaging Het
Cfhr4 A G 1: 139,701,662 (GRCm39) probably null Het
Chek1 A G 9: 36,625,788 (GRCm39) S286P possibly damaging Het
Cntn4 G A 6: 106,321,747 (GRCm39) V35I probably benign Het
Cntn4 C A 6: 106,483,153 (GRCm39) P236Q probably benign Het
Cyp2d40 C A 15: 82,645,753 (GRCm39) G84V probably benign Het
Dnah12 A T 14: 26,427,989 (GRCm39) H205L possibly damaging Het
Dock1 G A 7: 134,453,305 (GRCm39) V845I probably benign Het
Drg1 T C 11: 3,216,292 (GRCm39) K7E possibly damaging Het
Eloa G A 4: 135,737,133 (GRCm39) P488S probably damaging Het
Evi5 G A 5: 107,968,387 (GRCm39) R187* probably null Het
Fam53a T A 5: 33,758,219 (GRCm39) L301F probably damaging Het
Fmnl3 T C 15: 99,235,534 (GRCm39) K63E probably damaging Het
Gast C A 11: 100,227,438 (GRCm39) Q44K probably benign Het
Gng10 T A 4: 59,035,257 (GRCm39) V7E probably benign Het
Gtf3c5 G A 2: 28,460,474 (GRCm39) T375I probably benign Het
Haus5 C T 7: 30,358,401 (GRCm39) W298* probably null Het
Hspa14 A T 2: 3,490,109 (GRCm39) probably null Het
Kcna3 T C 3: 106,943,740 (GRCm39) M1T probably null Het
Kcnj15 T G 16: 95,097,095 (GRCm39) L239R probably damaging Het
Klhl2 G T 8: 65,212,842 (GRCm39) D232E probably benign Het
Lamb3 A T 1: 193,017,782 (GRCm39) I888F probably damaging Het
Lars1 C A 18: 42,350,551 (GRCm39) M919I probably benign Het
Lfng T C 5: 140,598,522 (GRCm39) V247A possibly damaging Het
Lrp1b C T 2: 41,679,045 (GRCm39) A16T probably benign Het
Mamdc2 A T 19: 23,341,270 (GRCm39) I235N probably damaging Het
Map9 T A 3: 82,290,612 (GRCm39) L492Q probably damaging Het
Mcpt8 A G 14: 56,322,604 (GRCm39) V14A possibly damaging Het
Myo1b T C 1: 51,807,810 (GRCm39) K823R probably null Het
Nbea G T 3: 55,944,570 (GRCm39) T598K probably damaging Het
Nrcam C A 12: 44,619,083 (GRCm39) H877N probably benign Het
Nrxn2 T C 19: 6,581,322 (GRCm39) probably null Het
Nwd2 A T 5: 63,957,596 (GRCm39) I309F possibly damaging Het
Phyhd1 G A 2: 30,164,736 (GRCm39) probably null Het
Pkp2 C T 16: 16,043,933 (GRCm39) T229I probably damaging Het
Plagl2 G A 2: 153,074,611 (GRCm39) P97S probably benign Het
Plekhh2 C A 17: 84,874,294 (GRCm39) N526K probably benign Het
Plin4 A G 17: 56,410,261 (GRCm39) L1217P probably benign Het
Polr3e T C 7: 120,527,222 (GRCm39) S67P possibly damaging Het
Postn A G 3: 54,292,703 (GRCm39) K757E probably benign Het
Prpf39 T A 12: 65,089,587 (GRCm39) probably null Het
Ptprg C T 14: 12,166,832 (GRCm38) T745I probably damaging Het
Rpl35 G T 2: 38,891,754 (GRCm39) D82E possibly damaging Het
Slc9a1 G A 4: 133,149,519 (GRCm39) V782I possibly damaging Het
Syn2 T A 6: 115,240,875 (GRCm39) M415K possibly damaging Het
Tmem117 A C 15: 94,909,324 (GRCm39) I246L probably benign Het
Tmem221 A T 8: 72,011,428 (GRCm39) V9E probably damaging Het
Trav13-5 A G 14: 54,033,399 (GRCm39) T103A probably damaging Het
Ubxn7 T A 16: 32,191,007 (GRCm39) probably null Het
Vmn2r101 G T 17: 19,810,112 (GRCm39) M299I possibly damaging Het
Vmn2r103 T A 17: 20,014,344 (GRCm39) S379T probably damaging Het
Vmn2r109 T C 17: 20,761,440 (GRCm39) N639S probably benign Het
Wdr26 T C 1: 181,030,771 (GRCm39) Het
Zfp109 T A 7: 23,928,308 (GRCm39) Y367F probably damaging Het
Zfp143 G A 7: 109,685,338 (GRCm39) C389Y probably damaging Het
Zfp553 G T 7: 126,836,064 (GRCm39) probably null Het
Other mutations in Pxylp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02315:Pxylp1 APN 9 96,721,196 (GRCm39) missense probably damaging 1.00
IGL03031:Pxylp1 APN 9 96,707,195 (GRCm39) missense probably benign 0.33
R4665:Pxylp1 UTSW 9 96,707,338 (GRCm39) missense probably damaging 0.99
R5064:Pxylp1 UTSW 9 96,736,853 (GRCm39) intron probably benign
R5749:Pxylp1 UTSW 9 96,738,424 (GRCm39) missense possibly damaging 0.85
R5943:Pxylp1 UTSW 9 96,721,203 (GRCm39) missense probably damaging 1.00
R5950:Pxylp1 UTSW 9 96,721,179 (GRCm39) missense probably damaging 1.00
R6104:Pxylp1 UTSW 9 96,706,800 (GRCm39) missense possibly damaging 0.80
R7057:Pxylp1 UTSW 9 96,707,103 (GRCm39) missense probably benign 0.01
R7115:Pxylp1 UTSW 9 96,707,063 (GRCm39) missense probably benign 0.02
R7475:Pxylp1 UTSW 9 96,738,420 (GRCm39) critical splice donor site probably null
R8258:Pxylp1 UTSW 9 96,707,633 (GRCm39) missense probably benign 0.01
R8259:Pxylp1 UTSW 9 96,707,633 (GRCm39) missense probably benign 0.01
R8307:Pxylp1 UTSW 9 96,721,137 (GRCm39) critical splice donor site probably null
R8967:Pxylp1 UTSW 9 96,707,324 (GRCm39) missense probably damaging 1.00
R9215:Pxylp1 UTSW 9 96,707,111 (GRCm39) missense possibly damaging 0.91
R9290:Pxylp1 UTSW 9 96,722,089 (GRCm39) missense probably damaging 0.99
R9709:Pxylp1 UTSW 9 96,711,030 (GRCm39) missense probably damaging 0.98
Z1176:Pxylp1 UTSW 9 96,707,009 (GRCm39) missense probably damaging 1.00
Z1177:Pxylp1 UTSW 9 96,706,990 (GRCm39) frame shift probably null
Z1177:Pxylp1 UTSW 9 96,706,989 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- TGAACAGCTCATCCCTCCAG -3'
(R):5'- AAGTGCCCTGTTCTGCTCTG -3'

Sequencing Primer
(F):5'- CGCTGCATCCGGTTGAC -3'
(R):5'- TCTGGAAGCTGCTACTGCC -3'
Posted On 2018-04-02