Incidental Mutation 'R0546:Paox'
ID 44833
Institutional Source Beutler Lab
Gene Symbol Paox
Ensembl Gene ENSMUSG00000025464
Gene Name polyamine oxidase (exo-N4-amino)
Synonyms Pao, 2410012F02Rik
MMRRC Submission 038738-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R0546 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 139693182-139714249 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 139711591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 148 (G148W)
Ref Sequence ENSEMBL: ENSMUSP00000095580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026537] [ENSMUST00000097967] [ENSMUST00000211757]
AlphaFold Q8C0L6
Predicted Effect probably damaging
Transcript: ENSMUST00000026537
AA Change: G378W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026537
Gene: ENSMUSG00000025464
AA Change: G378W

DomainStartEndE-ValueType
Pfam:NAD_binding_8 10 79 4.1e-14 PFAM
Pfam:Amino_oxidase 15 490 4.9e-79 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000097967
AA Change: G148W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095580
Gene: ENSMUSG00000025464
AA Change: G148W

DomainStartEndE-ValueType
Pfam:NAD_binding_8 10 77 1.4e-8 PFAM
Pfam:Amino_oxidase 52 260 1.5e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209908
Predicted Effect probably benign
Transcript: ENSMUST00000211757
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 99% (74/75)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,077,076 (GRCm39) probably null Het
Actn1 C T 12: 80,225,208 (GRCm39) R418Q probably benign Het
Adam39 G A 8: 41,279,468 (GRCm39) V620M probably damaging Het
Agr3 C A 12: 35,978,329 (GRCm39) T14K probably benign Het
Alpk2 T C 18: 65,439,788 (GRCm39) D1002G probably benign Het
Amz2 T A 11: 109,324,780 (GRCm39) N221K probably benign Het
Aox4 A G 1: 58,289,333 (GRCm39) E752G probably damaging Het
Ap2a1 C T 7: 44,554,132 (GRCm39) G500S probably damaging Het
Car5b G A X: 162,762,297 (GRCm39) R282C probably damaging Het
Ccdc112 A G 18: 46,424,139 (GRCm39) S200P possibly damaging Het
Ccdc18 A T 5: 108,322,830 (GRCm39) E643D probably benign Het
Ccdc180 A T 4: 45,904,597 (GRCm39) T398S possibly damaging Het
Cnp A G 11: 100,471,549 (GRCm39) Y397C probably damaging Het
Cpa4 T C 6: 30,580,962 (GRCm39) W184R probably damaging Het
Crebbp A T 16: 3,903,671 (GRCm39) I1856N probably damaging Het
Ctrl A G 8: 106,658,966 (GRCm39) I200T probably damaging Het
Cyfip1 C T 7: 55,572,564 (GRCm39) R934* probably null Het
Dennd5a A G 7: 109,520,633 (GRCm39) V408A probably benign Het
Dhfr G A 13: 92,504,692 (GRCm39) probably null Het
Dnajc6 A T 4: 101,492,388 (GRCm39) N740Y probably damaging Het
Fam110a T C 2: 151,812,732 (GRCm39) T13A probably benign Het
Fars2 G T 13: 36,388,569 (GRCm39) K19N probably benign Het
Fer1l6 A T 15: 58,430,257 (GRCm39) probably null Het
Gabra1 T A 11: 42,053,428 (GRCm39) T69S probably damaging Het
Galnt18 T G 7: 111,107,348 (GRCm39) N475T probably damaging Het
Gbp4 T C 5: 105,268,836 (GRCm39) Y439C probably damaging Het
Gpatch2l A G 12: 86,335,622 (GRCm39) *409W probably null Het
Hip1r T C 5: 124,137,114 (GRCm39) V658A possibly damaging Het
Hspg2 A G 4: 137,229,605 (GRCm39) D73G probably benign Het
Ifitm2 A G 7: 140,535,656 (GRCm39) V58A possibly damaging Het
Ift172 T C 5: 31,414,945 (GRCm39) D1359G probably benign Het
Ing1 A G 8: 11,607,031 (GRCm39) D41G probably damaging Het
Itgal C T 7: 126,909,486 (GRCm39) T446I probably benign Het
Itgav G T 2: 83,633,586 (GRCm39) M978I probably benign Het
Jazf1 A G 6: 52,754,681 (GRCm39) Y132H possibly damaging Het
Lgr4 T A 2: 109,829,766 (GRCm39) N211K probably damaging Het
Mgat4d A G 8: 84,082,350 (GRCm39) N100S possibly damaging Het
Mrgprb3 T C 7: 48,293,263 (GRCm39) Y96C probably damaging Het
Myh11 A C 16: 14,023,492 (GRCm39) L1562R probably damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Myo15a A G 11: 60,397,139 (GRCm39) Y2667C probably damaging Het
Or14j7 T A 17: 38,235,229 (GRCm39) C257* probably null Het
Or52ae7 A G 7: 103,119,907 (GRCm39) I220M possibly damaging Het
Or6c70 G A 10: 129,710,407 (GRCm39) T73I possibly damaging Het
Or8k37 T A 2: 86,469,573 (GRCm39) T160S possibly damaging Het
Or8k38 C T 2: 86,488,235 (GRCm39) C189Y possibly damaging Het
Or9m2 T A 2: 87,820,816 (GRCm39) Y120* probably null Het
Pkd1 T C 17: 24,799,112 (GRCm39) V2777A probably benign Het
Plod2 T A 9: 92,477,388 (GRCm39) V360E probably damaging Het
Prune2 T C 19: 16,998,030 (GRCm39) probably benign Het
Sbds G T 5: 130,282,919 (GRCm39) A3D possibly damaging Het
Sec23a T C 12: 59,031,953 (GRCm39) T426A probably benign Het
Sec31a T C 5: 100,551,929 (GRCm39) Y148C probably damaging Het
Shprh T A 10: 11,059,631 (GRCm39) probably benign Het
Slc16a7 A G 10: 125,066,742 (GRCm39) V299A probably benign Het
Smg8 T C 11: 86,974,439 (GRCm39) Y174C possibly damaging Het
Snx22 T A 9: 65,976,059 (GRCm39) Y58F probably damaging Het
Snx25 A G 8: 46,556,667 (GRCm39) Y308H probably benign Het
St3gal2 A G 8: 111,696,738 (GRCm39) probably null Het
Stab1 C T 14: 30,861,507 (GRCm39) R2500H possibly damaging Het
Steap4 T C 5: 8,025,870 (GRCm39) S144P probably damaging Het
Stfa3 T A 16: 36,272,619 (GRCm39) probably benign Het
Tmprss9 C A 10: 80,735,157 (GRCm39) Q1095K probably benign Het
Top2a A G 11: 98,890,052 (GRCm39) V1217A possibly damaging Het
Trhr2 A G 8: 123,085,228 (GRCm39) probably null Het
Trim7 A G 11: 48,736,336 (GRCm39) E23G probably damaging Het
Trpv3 A T 11: 73,188,013 (GRCm39) E788V probably damaging Het
Ttn A G 2: 76,575,863 (GRCm39) I25010T probably damaging Het
Ube2ql1 T C 13: 69,887,419 (GRCm39) H14R unknown Het
Uggt1 C T 1: 36,235,052 (GRCm39) R419H probably benign Het
Xpo4 A G 14: 57,850,731 (GRCm39) V391A probably benign Het
Zfhx3 A G 8: 109,520,819 (GRCm39) D647G probably damaging Het
Zfp354c A T 11: 50,706,457 (GRCm39) M206K probably benign Het
Zfp804a A G 2: 82,089,264 (GRCm39) N1031S possibly damaging Het
Zfp868 A G 8: 70,064,882 (GRCm39) V151A probably benign Het
Other mutations in Paox
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0084:Paox UTSW 7 139,712,359 (GRCm39) nonsense probably null
R0140:Paox UTSW 7 139,713,971 (GRCm39) missense probably damaging 1.00
R0285:Paox UTSW 7 139,709,053 (GRCm39) missense probably damaging 1.00
R0464:Paox UTSW 7 139,709,195 (GRCm39) unclassified probably benign
R0733:Paox UTSW 7 139,707,440 (GRCm39) missense probably damaging 0.99
R0926:Paox UTSW 7 139,713,951 (GRCm39) missense probably damaging 1.00
R1169:Paox UTSW 7 139,706,244 (GRCm39) missense probably benign 0.04
R1466:Paox UTSW 7 139,709,194 (GRCm39) unclassified probably benign
R2260:Paox UTSW 7 139,713,967 (GRCm39) nonsense probably null
R4172:Paox UTSW 7 139,713,941 (GRCm39) missense probably damaging 1.00
R5914:Paox UTSW 7 139,709,101 (GRCm39) missense probably damaging 1.00
R5951:Paox UTSW 7 139,707,567 (GRCm39) missense probably damaging 1.00
R5960:Paox UTSW 7 139,712,402 (GRCm39) missense probably benign 0.26
R6019:Paox UTSW 7 139,711,655 (GRCm39) missense probably damaging 0.99
R6583:Paox UTSW 7 139,706,291 (GRCm39) missense probably damaging 1.00
R8986:Paox UTSW 7 139,706,503 (GRCm39) missense probably benign 0.03
R9708:Paox UTSW 7 139,712,359 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGGAAACGGCACAGGCTGCTTTAG -3'
(R):5'- ACACCGTGAGATGCCTCCTGTAAG -3'

Sequencing Primer
(F):5'- tttagggttgtgaaaatagccag -3'
(R):5'- cctaagttcaattcccagtgacc -3'
Posted On 2013-06-11