Incidental Mutation 'IGL00465:Pxmp2'
ID 332121
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pxmp2
Ensembl Gene ENSMUSG00000029499
Gene Name peroxisomal membrane protein 2
Synonyms 22kDa, PMP22
Accession Numbers
Essential gene? Probably non essential (E-score: 0.249) question?
Stock # IGL00465
Quality Score
Status
Chromosome 5
Chromosomal Location 110422152-110434036 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110431582 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 54 (T54A)
Ref Sequence ENSEMBL: ENSMUSP00000031472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007296] [ENSMUST00000031472] [ENSMUST00000112482] [ENSMUST00000155266]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000007296
SMART Domains Protein: ENSMUSP00000007296
Gene: ENSMUSG00000007080

DomainStartEndE-ValueType
POLBc 267 870 9.42e-97 SMART
Blast:POLBc 903 970 1e-28 BLAST
Blast:POLBc 1014 1073 2e-22 BLAST
Blast:POLBc 1195 1266 7e-21 BLAST
low complexity region 1275 1294 N/A INTRINSIC
Blast:DUF1744 1401 1430 2e-7 BLAST
DUF1744 1524 1924 1.9e-236 SMART
coiled coil region 1936 1963 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000031472
AA Change: T54A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000031472
Gene: ENSMUSG00000029499
AA Change: T54A

DomainStartEndE-ValueType
low complexity region 17 35 N/A INTRINSIC
transmembrane domain 68 90 N/A INTRINSIC
low complexity region 113 125 N/A INTRINSIC
Pfam:Mpv17_PMP22 128 192 2.7e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112482
SMART Domains Protein: ENSMUSP00000108101
Gene: ENSMUSG00000007080

DomainStartEndE-ValueType
Pfam:DNA_pol_B_exo1 86 190 1.5e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126882
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131887
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141550
Predicted Effect probably benign
Transcript: ENSMUST00000155266
AA Change: T54A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000117729
Gene: ENSMUSG00000029499
AA Change: T54A

DomainStartEndE-ValueType
low complexity region 17 35 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation display impaired lactation, increased serum urate levels, elevated urinary clearence of urate, and abnormal liver peroxisomal membrane permeability. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg A T 15: 60,793,102 (GRCm39) S2T probably damaging Het
Adamts13 T A 2: 26,863,567 (GRCm39) W7R probably benign Het
Anks6 T A 4: 47,046,054 (GRCm39) D279V probably damaging Het
C4bp A T 1: 130,566,871 (GRCm39) L335Q probably damaging Het
Cd109 A T 9: 78,568,216 (GRCm39) K299* probably null Het
Cd200r2 A T 16: 44,729,651 (GRCm39) H102L probably damaging Het
Col12a1 A G 9: 79,604,863 (GRCm39) Y662H probably damaging Het
Cyp2c37 T C 19: 39,990,441 (GRCm39) F380L probably benign Het
Deup1 A G 9: 15,472,666 (GRCm39) S549P probably damaging Het
Dysf G T 6: 84,176,830 (GRCm39) probably null Het
Etaa1 A T 11: 17,897,825 (GRCm39) C166* probably null Het
Fam227b T C 2: 125,986,245 (GRCm39) probably null Het
Gucy1b2 T G 14: 62,640,649 (GRCm39) Q752P probably benign Het
Hal T C 10: 93,325,931 (GRCm39) probably null Het
Hao1 C A 2: 134,396,190 (GRCm39) K21N probably damaging Het
Itga4 T C 2: 79,122,394 (GRCm39) F536L probably benign Het
Lmod3 A T 6: 97,224,822 (GRCm39) I333N probably damaging Het
Mgme1 T A 2: 144,121,436 (GRCm39) D297E probably damaging Het
Myh2 G T 11: 67,069,659 (GRCm39) probably benign Het
Myo7a A G 7: 97,751,833 (GRCm39) M70T probably damaging Het
Nav3 T C 10: 109,688,607 (GRCm39) T557A probably damaging Het
Nif3l1 C A 1: 58,494,845 (GRCm39) H271Q possibly damaging Het
Nostrin A G 2: 69,015,898 (GRCm39) probably benign Het
Nxn C A 11: 76,165,481 (GRCm39) probably benign Het
Pcdhb22 A T 18: 37,653,185 (GRCm39) D551V probably damaging Het
Pde4d A G 13: 110,073,221 (GRCm39) D339G possibly damaging Het
Pkp4 T A 2: 59,169,099 (GRCm39) S408T probably damaging Het
Rif1 T A 2: 52,011,019 (GRCm39) V2362E probably damaging Het
Rps6kl1 A G 12: 85,186,203 (GRCm39) S276P probably benign Het
Scaf4 C A 16: 90,044,169 (GRCm39) M601I unknown Het
Scart2 A G 7: 139,874,755 (GRCm39) Y411C probably damaging Het
Setd7 T A 3: 51,457,729 (GRCm39) T33S probably benign Het
Shroom1 T A 11: 53,354,921 (GRCm39) D280E probably benign Het
Slc35f2 G T 9: 53,705,298 (GRCm39) probably null Het
Slitrk3 T A 3: 72,958,436 (GRCm39) N112I probably damaging Het
Spag1 A G 15: 36,183,967 (GRCm39) probably benign Het
Stx6 C T 1: 155,077,679 (GRCm39) probably benign Het
Sun1 A T 5: 139,220,440 (GRCm39) probably null Het
Tbl1xr1 G A 3: 22,246,432 (GRCm39) probably null Het
Tmc2 T C 2: 130,103,224 (GRCm39) S787P possibly damaging Het
Traf3ip3 C T 1: 192,877,128 (GRCm39) probably benign Het
Trip12 T G 1: 84,741,582 (GRCm39) H559P probably damaging Het
Trpm1 G T 7: 63,897,215 (GRCm39) M272I possibly damaging Het
Ttc21b T C 2: 66,073,119 (GRCm39) E189G probably benign Het
Tubd1 T C 11: 86,445,894 (GRCm39) probably benign Het
Vps13a T A 19: 16,729,539 (GRCm39) T167S probably damaging Het
Zbtb3 A G 19: 8,781,029 (GRCm39) D214G possibly damaging Het
Zfp658 A G 7: 43,216,780 (GRCm39) D50G probably benign Het
Zfp976 T A 7: 42,263,109 (GRCm39) I243L unknown Het
Other mutations in Pxmp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02902:Pxmp2 APN 5 110,429,160 (GRCm39) missense probably benign
R1564:Pxmp2 UTSW 5 110,429,062 (GRCm39) critical splice donor site probably null
R4451:Pxmp2 UTSW 5 110,425,531 (GRCm39) missense probably damaging 0.99
R4908:Pxmp2 UTSW 5 110,431,518 (GRCm39) missense probably benign 0.19
R5580:Pxmp2 UTSW 5 110,431,542 (GRCm39) missense possibly damaging 0.46
R6615:Pxmp2 UTSW 5 110,425,573 (GRCm39) missense possibly damaging 0.67
R6788:Pxmp2 UTSW 5 110,429,185 (GRCm39) missense probably benign 0.00
R6868:Pxmp2 UTSW 5 110,433,846 (GRCm39) missense probably damaging 0.99
R7217:Pxmp2 UTSW 5 110,433,771 (GRCm39) missense probably damaging 0.99
R8247:Pxmp2 UTSW 5 110,422,445 (GRCm39) missense probably damaging 1.00
R9295:Pxmp2 UTSW 5 110,433,944 (GRCm39) unclassified probably benign
Posted On 2015-08-05