Incidental Mutation 'R7878:Pyroxd2'
ID 608605
Institutional Source Beutler Lab
Gene Symbol Pyroxd2
Ensembl Gene ENSMUSG00000060224
Gene Name pyridine nucleotide-disulphide oxidoreductase domain 2
Synonyms 4833409A17Rik, 3830409H07Rik
MMRRC Submission 045930-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R7878 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 42714297-42741214 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to G at 42731104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000075825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076505]
AlphaFold Q3U4I7
Predicted Effect probably null
Transcript: ENSMUST00000076505
SMART Domains Protein: ENSMUSP00000075825
Gene: ENSMUSG00000060224

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 G A 10: 20,857,330 (GRCm39) probably null Het
Ak7 T A 12: 105,733,008 (GRCm39) I584N probably damaging Het
Akip1 A T 7: 109,306,609 (GRCm39) Y102F probably damaging Het
Alg9 T C 9: 50,754,083 (GRCm39) Y588H probably benign Het
Arid1a A T 4: 133,414,582 (GRCm39) N831K unknown Het
Bcl2l11 T A 2: 127,970,608 (GRCm39) L19* probably null Het
Btn1a1 T C 13: 23,643,214 (GRCm39) T412A possibly damaging Het
Ccbe1 T C 18: 66,209,462 (GRCm39) N193D possibly damaging Het
Ccdc168 T C 1: 44,095,174 (GRCm39) S1975G probably benign Het
Cd96 A G 16: 45,938,139 (GRCm39) S109P probably damaging Het
Cdh23 A C 10: 60,149,979 (GRCm39) I2622S possibly damaging Het
Cmya5 G T 13: 93,226,265 (GRCm39) T2941K probably damaging Het
Cntn1 T C 15: 92,192,934 (GRCm39) Y679H probably damaging Het
Cpsf1 A G 15: 76,484,700 (GRCm39) V619A probably damaging Het
Elp5 T A 11: 69,861,425 (GRCm39) I185F probably damaging Het
Frem1 A G 4: 82,938,917 (GRCm39) V55A probably benign Het
Kif1b A T 4: 149,299,454 (GRCm39) Y985N probably damaging Het
Lao1 A G 4: 118,824,619 (GRCm39) N234D probably benign Het
Lima1 C T 15: 99,717,431 (GRCm39) V192I probably benign Het
Lrp2 T G 2: 69,338,153 (GRCm39) D1209A probably damaging Het
Lrp2 C A 2: 69,338,154 (GRCm39) D1209Y probably damaging Het
Luzp1 A G 4: 136,269,163 (GRCm39) H462R probably benign Het
Mab21l1 A T 3: 55,691,438 (GRCm39) T342S probably benign Het
Mst1 T C 9: 107,961,812 (GRCm39) V657A probably benign Het
Mtmr11 A G 3: 96,076,515 (GRCm39) K490R probably benign Het
Myh3 A G 11: 66,978,077 (GRCm39) D383G probably damaging Het
Nectin1 G A 9: 43,715,198 (GRCm39) G478D probably benign Het
Nrip1 A G 16: 76,091,554 (GRCm39) M1T probably null Het
Odad1 A G 7: 45,573,984 (GRCm39) E17G possibly damaging Het
Odad2 G T 18: 7,217,801 (GRCm39) H638N probably benign Het
Or1j10 A G 2: 36,267,145 (GRCm39) D119G probably damaging Het
Or52z15 A T 7: 103,332,471 (GRCm39) H182L probably damaging Het
Pnisr C A 4: 21,874,370 (GRCm39) F704L unknown Het
Ptpn21 T A 12: 98,681,387 (GRCm39) K82N probably damaging Het
Pzp A G 6: 128,489,274 (GRCm39) S446P possibly damaging Het
Rbck1 T A 2: 152,160,330 (GRCm39) I450F probably damaging Het
Rnase4 T A 14: 51,342,333 (GRCm39) L19Q probably damaging Het
Rrp9 A G 9: 106,358,516 (GRCm39) E118G probably damaging Het
Sec22a A G 16: 35,168,005 (GRCm39) S169P probably benign Het
Sema5b G A 16: 35,481,996 (GRCm39) S957N probably benign Het
Serpina3g A T 12: 104,204,361 (GRCm39) probably benign Het
Skint2 A T 4: 112,506,942 (GRCm39) I322F possibly damaging Het
Spata31h1 G A 10: 82,119,856 (GRCm39) R4385W probably benign Het
Sspo G A 6: 48,469,460 (GRCm39) C4471Y probably damaging Het
Stk16 T A 1: 75,189,589 (GRCm39) L167* probably null Het
Tanc2 G A 11: 105,804,241 (GRCm39) R245H Het
Tdpoz1 G A 3: 93,578,431 (GRCm39) Q118* probably null Het
Tekt3 C T 11: 62,961,277 (GRCm39) R149* probably null Het
Tenm4 A G 7: 96,501,564 (GRCm39) E1256G probably damaging Het
Tie1 G A 4: 118,335,621 (GRCm39) R791C probably damaging Het
Tpr T A 1: 150,299,411 (GRCm39) S1204T possibly damaging Het
Trim28 G T 7: 12,758,289 (GRCm39) probably benign Het
Ucp1 A G 8: 84,024,521 (GRCm39) N282S probably benign Het
Unc80 T A 1: 66,640,300 (GRCm39) D1402E possibly damaging Het
Vmn1r69 T A 7: 10,314,717 (GRCm39) T5S probably benign Het
Zfyve28 T A 5: 34,356,999 (GRCm39) K733M 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
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
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'- TGCTGAGGGAAGCTTCAGTC -3'
(R):5'- CAATATGGTATGCTCGGTGTGAC -3'

Sequencing Primer
(F):5'- GAAGCTTCAGTCCCCGCTC -3'
(R):5'- CTCTATCACTGGGTCTCTGGACAAG -3'
Posted On 2019-12-20