Incidental Mutation 'IGL01636:Pyroxd2'
ID 93003
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pyroxd2
Ensembl Gene ENSMUSG00000060224
Gene Name pyridine nucleotide-disulphide oxidoreductase domain 2
Synonyms 4833409A17Rik, 3830409H07Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # IGL01636
Quality Score
Status
Chromosome 19
Chromosomal Location 42714297-42741214 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 42726771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 209 (G209V)
Ref Sequence ENSEMBL: ENSMUSP00000075825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076505]
AlphaFold Q3U4I7
Predicted Effect probably benign
Transcript: ENSMUST00000076505
AA Change: G209V

PolyPhen 2 Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000075825
Gene: ENSMUSG00000060224
AA Change: G209V

DomainStartEndE-ValueType
Pfam:NAD_binding_8 39 97 3.5e-11 PFAM
Pfam:Amino_oxidase 46 423 2.7e-15 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 T C 12: 81,466,723 (GRCm39) T633A possibly damaging Het
Adgrd1 G T 5: 129,219,516 (GRCm39) probably benign Het
Bmp7 T C 2: 172,717,001 (GRCm39) probably benign Het
Ccdc54 A G 16: 50,410,277 (GRCm39) *330Q probably null Het
Chd5 A T 4: 152,469,110 (GRCm39) K1812* probably null Het
Cnga3 T A 1: 37,299,874 (GRCm39) I236N possibly damaging Het
Ddost T G 4: 138,036,707 (GRCm39) D135E possibly damaging Het
Dicer1 T C 12: 104,688,500 (GRCm39) D359G probably damaging Het
Dnah17 A C 11: 117,931,882 (GRCm39) S3697A probably benign Het
Dnttip2 G A 3: 122,076,123 (GRCm39) G685D possibly damaging Het
Dst T G 1: 34,254,650 (GRCm39) S4552R probably damaging Het
Ebf2 G A 14: 67,476,927 (GRCm39) E157K probably damaging Het
Ehbp1 C T 11: 22,039,584 (GRCm39) V839M probably benign Het
Ehmt1 G T 2: 24,729,620 (GRCm39) T639K probably damaging Het
Esyt2 T C 12: 116,329,550 (GRCm39) probably null Het
Etv6 T C 6: 134,225,350 (GRCm39) S194P probably benign Het
Fam184b T C 5: 45,741,637 (GRCm39) H198R probably benign Het
Fam210b T C 2: 172,193,460 (GRCm39) F91S probably damaging Het
Fam81a G A 9: 70,006,434 (GRCm39) Q193* probably null Het
Fto A G 8: 92,135,969 (GRCm39) D79G probably damaging Het
Haspin C T 11: 73,028,231 (GRCm39) R286H possibly damaging Het
Hmcn1 C T 1: 150,455,984 (GRCm39) C5312Y probably damaging Het
Ik T A 18: 36,884,254 (GRCm39) D245E possibly damaging Het
Itga1 A G 13: 115,143,484 (GRCm39) V349A possibly damaging Het
Kdm8 T C 7: 125,060,377 (GRCm39) V400A probably damaging Het
Larp1b G T 3: 40,924,913 (GRCm39) R177L probably benign Het
Lifr T G 15: 7,208,499 (GRCm39) probably benign Het
Lrrn2 T C 1: 132,864,959 (GRCm39) L8P possibly damaging Het
Marcksl1 T A 4: 129,408,587 (GRCm39) D55E probably benign Het
Med12 C A X: 100,318,795 (GRCm39) S74R probably damaging Het
Mtarc2 T C 1: 184,564,838 (GRCm39) K231E probably benign Het
Or52s1 C A 7: 102,861,384 (GRCm39) R95S probably benign Het
Or6c35 A T 10: 129,168,752 (GRCm39) M1L probably damaging Het
Or7e170 A G 9: 19,795,484 (GRCm39) V39A probably benign Het
Or8k39 G A 2: 86,563,945 (GRCm39) Q4* probably null Het
Orc3 A C 4: 34,595,096 (GRCm39) L233R probably damaging Het
Pik3cd A G 4: 149,738,772 (GRCm39) M715T possibly damaging Het
Prss43 T A 9: 110,656,505 (GRCm39) L64Q possibly damaging Het
Rab3b A G 4: 108,797,916 (GRCm39) D198G possibly damaging Het
Rrbp1 A T 2: 143,789,815 (GRCm39) probably benign Het
Smg6 T C 11: 74,825,929 (GRCm39) probably null Het
Ssrp1 T C 2: 84,871,443 (GRCm39) probably benign Het
Strip2 C A 6: 29,931,192 (GRCm39) T381K probably benign Het
Svep1 A T 4: 58,116,622 (GRCm39) L876Q possibly damaging Het
Tle4 T C 19: 14,429,897 (GRCm39) I625V probably damaging Het
Tnfrsf23 T C 7: 143,233,736 (GRCm39) T81A probably damaging Het
Ttc41 A G 10: 86,612,542 (GRCm39) K1272E probably benign Het
Usp3 A G 9: 66,469,834 (GRCm39) probably null Het
Vmn1r121 C T 7: 20,832,282 (GRCm39) V53M probably benign Het
Vmn1r65 A T 7: 6,011,720 (GRCm39) S171R probably benign Het
Vmn2r4 A T 3: 64,313,657 (GRCm39) D441E probably benign Het
Vps13d A T 4: 144,801,618 (GRCm39) H2353Q probably damaging Het
Vwa8 T C 14: 79,435,794 (GRCm39) S1835P possibly damaging Het
Other mutations in Pyroxd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00969:Pyroxd2 APN 19 42,719,877 (GRCm39) missense possibly damaging 0.89
IGL02808:Pyroxd2 APN 19 42,719,781 (GRCm39) missense probably benign
IGL02831:Pyroxd2 APN 19 42,724,342 (GRCm39) missense probably damaging 0.99
IGL03179:Pyroxd2 APN 19 42,736,001 (GRCm39) missense possibly damaging 0.89
PIT4486001:Pyroxd2 UTSW 19 42,728,828 (GRCm39) missense probably benign 0.00
R0360:Pyroxd2 UTSW 19 42,735,992 (GRCm39) missense probably damaging 1.00
R0364:Pyroxd2 UTSW 19 42,735,992 (GRCm39) missense probably damaging 1.00
R0567:Pyroxd2 UTSW 19 42,724,364 (GRCm39) missense probably benign
R0690:Pyroxd2 UTSW 19 42,716,081 (GRCm39) splice site probably benign
R0843:Pyroxd2 UTSW 19 42,735,986 (GRCm39) missense probably damaging 1.00
R1649:Pyroxd2 UTSW 19 42,726,573 (GRCm39) missense probably damaging 0.99
R2032:Pyroxd2 UTSW 19 42,716,088 (GRCm39) splice site probably benign
R2087:Pyroxd2 UTSW 19 42,722,209 (GRCm39) missense probably benign 0.00
R3040:Pyroxd2 UTSW 19 42,723,957 (GRCm39) missense probably benign
R3898:Pyroxd2 UTSW 19 42,728,831 (GRCm39) missense probably damaging 0.99
R4746:Pyroxd2 UTSW 19 42,740,839 (GRCm39) nonsense probably null
R5394:Pyroxd2 UTSW 19 42,728,898 (GRCm39) missense probably benign
R5634:Pyroxd2 UTSW 19 42,728,924 (GRCm39) missense probably benign 0.21
R5977:Pyroxd2 UTSW 19 42,723,911 (GRCm39) missense probably damaging 1.00
R6745:Pyroxd2 UTSW 19 42,735,799 (GRCm39) missense probably damaging 0.99
R7128:Pyroxd2 UTSW 19 42,719,842 (GRCm39) missense probably benign 0.45
R7697:Pyroxd2 UTSW 19 42,735,805 (GRCm39) missense probably benign
R7707:Pyroxd2 UTSW 19 42,726,586 (GRCm39) missense probably damaging 0.98
R7769:Pyroxd2 UTSW 19 42,736,001 (GRCm39) missense probably benign 0.00
R7878:Pyroxd2 UTSW 19 42,731,104 (GRCm39) critical splice acceptor site probably null
R8204:Pyroxd2 UTSW 19 42,737,827 (GRCm39) missense probably benign 0.18
R9374:Pyroxd2 UTSW 19 42,719,756 (GRCm39) critical splice donor site probably null
R9551:Pyroxd2 UTSW 19 42,719,756 (GRCm39) critical splice donor site probably null
R9552:Pyroxd2 UTSW 19 42,719,756 (GRCm39) critical splice donor site probably null
Posted On 2013-12-09