Incidental Mutation 'R7697:Pyroxd2'
ID 593744
Institutional Source Beutler Lab
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 # R7697 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 42714297-42741214 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 42735805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 99 (C99Y)
Ref Sequence ENSEMBL: ENSMUSP00000075825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076505]
AlphaFold Q3U4I7
Predicted Effect probably benign
Transcript: ENSMUST00000076505
AA Change: C99Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000075825
Gene: ENSMUSG00000060224
AA Change: C99Y

DomainStartEndE-ValueType
Pfam:NAD_binding_8 39 97 3.5e-11 PFAM
Pfam:Amino_oxidase 46 423 2.7e-15 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd4 T C 14: 54,500,216 (GRCm39) V87A probably damaging Het
Acadsb A G 7: 131,031,698 (GRCm39) E178G probably damaging Het
Acoxl A G 2: 127,820,702 (GRCm39) T365A probably benign Het
Adcy8 T G 15: 64,618,850 (GRCm39) I768L probably benign Het
Bloc1s4 A G 5: 36,905,959 (GRCm39) S11P probably benign Het
Brinp2 T C 1: 158,095,496 (GRCm39) I122V probably benign Het
Brwd1 T C 16: 95,847,601 (GRCm39) D673G probably benign Het
Cbx8 C A 11: 118,931,637 (GRCm39) E14* probably null Het
Cep295 T A 9: 15,266,006 (GRCm39) M49L probably benign Het
Cfap157 T C 2: 32,669,765 (GRCm39) N273D probably benign Het
Cntn3 A T 6: 102,185,127 (GRCm39) V663E probably damaging Het
Cntn3 C T 6: 102,185,128 (GRCm39) V663M probably damaging Het
Cspg5 G C 9: 110,085,294 (GRCm39) R488S probably damaging Het
Csrnp2 A T 15: 100,385,953 (GRCm39) M95K probably damaging Het
Dnah3 A T 7: 119,566,657 (GRCm39) V136E Het
Drg2 T A 11: 60,353,003 (GRCm39) I212N probably damaging Het
Egfem1 T C 3: 29,744,346 (GRCm39) probably null Het
Eif1ad18 T C 12: 88,050,749 (GRCm39) Y95H probably damaging Het
Enpep T A 3: 129,102,750 (GRCm39) D402V probably damaging Het
Fanci T A 7: 79,056,040 (GRCm39) probably null Het
Fgd6 T A 10: 93,881,306 (GRCm39) V720D probably damaging Het
Fhod1 T A 8: 106,074,563 (GRCm39) probably benign Het
Flnc T A 6: 29,456,516 (GRCm39) I2238N probably damaging Het
Frmd4a A G 2: 4,488,892 (GRCm39) E79G probably damaging Het
Gabrr2 A T 4: 33,071,358 (GRCm39) Y66F probably benign Het
Ggnbp1 T G 17: 27,249,736 (GRCm39) I192S probably benign Het
Gm32742 C T 9: 51,058,901 (GRCm39) V1039I probably benign Het
H2-D1 T C 17: 35,482,121 (GRCm39) L11P probably damaging Het
Hsd17b4 A G 18: 50,263,208 (GRCm39) Y25C probably damaging Het
Ildr2 C A 1: 166,122,300 (GRCm39) Q248K probably benign Het
Klrb1c T C 6: 128,757,273 (GRCm39) H264R probably benign Het
Lrp11 C T 10: 7,479,983 (GRCm39) A346V probably benign Het
Mast4 G A 13: 102,875,711 (GRCm39) P1319L probably damaging Het
Mcm9 A C 10: 53,491,990 (GRCm39) F392V Het
Med12l C T 3: 59,148,078 (GRCm39) A965V probably damaging Het
Mrps7 A G 11: 115,495,701 (GRCm39) T80A probably benign Het
Mtor T A 4: 148,624,765 (GRCm39) Y2125* probably null Het
Myoc A G 1: 162,475,049 (GRCm39) E200G probably damaging Het
Natd1 A G 11: 60,797,808 (GRCm39) V39A probably damaging Het
Notch4 C T 17: 34,789,159 (GRCm39) T486I probably damaging Het
Or10am5 T C 7: 6,517,645 (GRCm39) Y261C probably damaging Het
Or10n1 A G 9: 39,525,157 (GRCm39) Q98R probably damaging Het
Or2c1 G A 16: 3,657,430 (GRCm39) V198M probably damaging Het
Or5aq6 T A 2: 86,923,162 (GRCm39) H193L probably benign Het
Pdss2 T A 10: 43,221,544 (GRCm39) I152N probably damaging Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Plec T C 15: 76,065,885 (GRCm39) E1395G unknown Het
Polr2b T C 5: 77,468,059 (GRCm39) Y120H probably damaging Het
Rela T C 19: 5,691,630 (GRCm39) V268A probably damaging Het
Rgs3 C T 4: 62,575,379 (GRCm39) P589S probably benign Het
Rtn1 A G 12: 72,455,151 (GRCm39) S59P probably benign Het
Siae A G 9: 37,544,950 (GRCm39) Y315C probably damaging Het
Susd3 C A 13: 49,391,074 (GRCm39) W147L probably damaging Het
Ttn A T 2: 76,702,047 (GRCm39) probably null Het
Ubr3 A G 2: 69,728,030 (GRCm39) Y131C probably damaging Het
Unc80 C T 1: 66,677,104 (GRCm39) P2011L possibly damaging Het
Usp9y T C Y: 1,316,990 (GRCm39) E1853G possibly damaging Het
Wls C A 3: 159,616,955 (GRCm39) H331Q probably benign Het
Xkr6 C A 14: 63,844,628 (GRCm39) P217Q probably damaging Het
Other mutations in Pyroxd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00969:Pyroxd2 APN 19 42,719,877 (GRCm39) missense possibly damaging 0.89
IGL01636:Pyroxd2 APN 19 42,726,771 (GRCm39) missense probably benign 0.40
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
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
Predicted Primers PCR Primer
(F):5'- CTTAAAGCACAGGGTGGCTG -3'
(R):5'- ATCAAGAAAGGACCCTGTGTC -3'

Sequencing Primer
(F):5'- TGGCTGAGACAAAAATCAAGCTATG -3'
(R):5'- AGCGTACCTCCAGAGACTG -3'
Posted On 2019-11-12