Incidental Mutation 'R0666:Pipox'
ID 62032
Institutional Source Beutler Lab
Gene Symbol Pipox
Ensembl Gene ENSMUSG00000017453
Gene Name pipecolic acid oxidase
Synonyms Pso
MMRRC Submission 038851-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0666 (G1)
Quality Score 172
Status Validated
Chromosome 11
Chromosomal Location 77771440-77784698 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 77774651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 144 (K144M)
Ref Sequence ENSEMBL: ENSMUSP00000017597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017597]
AlphaFold Q9D826
Predicted Effect probably benign
Transcript: ENSMUST00000017597
AA Change: K144M

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000017597
Gene: ENSMUSG00000017453
AA Change: K144M

DomainStartEndE-ValueType
Pfam:DAO 9 364 3.1e-49 PFAM
Pfam:NAD_binding_8 12 54 1.2e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151383
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155401
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.7%
Validation Efficiency 100% (89/89)
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 T A 12: 52,958,591 (GRCm39) V782E probably damaging Het
Atg9a A G 1: 75,161,734 (GRCm39) L604P probably damaging Het
Atp1a3 T C 7: 24,689,974 (GRCm39) I482V probably benign Het
Bltp2 T G 11: 78,178,813 (GRCm39) M2026R probably damaging Het
Bltp2 T A 11: 78,168,038 (GRCm39) L1491* probably null Het
Ccdc18 T G 5: 108,311,530 (GRCm39) V412G probably benign Het
Ccn6 T C 10: 39,027,285 (GRCm39) R316G probably benign Het
Cct6a A G 5: 129,871,449 (GRCm39) noncoding transcript Het
Clpx A G 9: 65,217,507 (GRCm39) N25S probably damaging Het
Cnpy2 T A 10: 128,162,894 (GRCm39) C171* probably null Het
Cntnap3 C T 13: 64,905,211 (GRCm39) D857N probably damaging Het
Col5a1 A G 2: 27,922,697 (GRCm39) Y255C probably damaging Het
Coro7 A T 16: 4,449,775 (GRCm39) F638Y possibly damaging Het
Cpd A G 11: 76,673,153 (GRCm39) F1331L probably damaging Het
Csmd1 A T 8: 16,119,063 (GRCm39) I1842N possibly damaging Het
Dgkg T A 16: 22,381,480 (GRCm39) D490V probably damaging Het
Dnah9 A T 11: 65,976,284 (GRCm39) M1255K probably benign Het
E2f1 A G 2: 154,402,849 (GRCm39) V306A probably benign Het
Entpd1 A G 19: 40,648,350 (GRCm39) probably benign Het
Esrrb T A 12: 86,552,676 (GRCm39) I222N probably benign Het
Flt4 G T 11: 49,516,274 (GRCm39) A126S possibly damaging Het
Galnt11 C T 5: 25,457,145 (GRCm39) T237I possibly damaging Het
Galnt2l A T 8: 122,997,727 (GRCm39) probably benign Het
Gbf1 A G 19: 46,250,983 (GRCm39) probably benign Het
H2-T9 T C 17: 36,438,726 (GRCm39) T222A possibly damaging Het
Herc1 T A 9: 66,392,170 (GRCm39) probably benign Het
Hsph1 T C 5: 149,554,967 (GRCm39) Y105C probably damaging Het
Il23r T C 6: 67,411,664 (GRCm39) T358A probably benign Het
Il2ra C T 2: 11,647,884 (GRCm39) probably benign Het
Kbtbd4 G T 2: 90,744,459 (GRCm39) probably benign Het
Kcnt1 A G 2: 25,781,255 (GRCm39) probably benign Het
Kng2 A G 16: 22,815,872 (GRCm39) probably benign Het
Lap3 C T 5: 45,669,270 (GRCm39) T473I possibly damaging Het
Lrrk2 T C 15: 91,641,273 (GRCm39) probably null Het
Map1s A G 8: 71,366,696 (GRCm39) N534D possibly damaging Het
Mtg1 G A 7: 139,724,257 (GRCm39) V122I probably benign Het
Myadm T A 7: 3,345,865 (GRCm39) I209K probably damaging Het
Ntsr2 G A 12: 16,703,981 (GRCm39) V75I probably benign Het
Or4b1b A T 2: 90,112,212 (GRCm39) S236T probably damaging Het
Or8u10 G A 2: 85,915,557 (GRCm39) A188V probably benign Het
Pfn1 T C 11: 70,545,192 (GRCm39) T39A probably benign Het
Plekhh1 G A 12: 79,115,889 (GRCm39) E811K probably damaging Het
Pnpla3 T A 15: 84,063,506 (GRCm39) W295R probably benign Het
Prkacb T A 3: 146,457,273 (GRCm39) T136S probably damaging Het
Ralbp1 T A 17: 66,161,124 (GRCm39) N473I probably benign Het
Rbp4 G A 19: 38,106,908 (GRCm39) T127M probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rps3a1 G A 3: 86,045,424 (GRCm39) probably benign Het
Scg3 G T 9: 75,551,222 (GRCm39) Y429* probably null Het
Shisal2b G T 13: 104,994,862 (GRCm39) T95K possibly damaging Het
Spag5 T C 11: 78,204,222 (GRCm39) S492P probably damaging Het
St7 T A 6: 17,934,238 (GRCm39) M540K probably damaging Het
Stxbp3 C A 3: 108,712,618 (GRCm39) V281F possibly damaging Het
Sun5 A G 2: 153,700,968 (GRCm39) V242A possibly damaging Het
Susd5 G T 9: 113,924,852 (GRCm39) R245L possibly damaging Het
Syne2 A G 12: 75,969,787 (GRCm39) E954G probably damaging Het
Synpo2 A T 3: 122,907,708 (GRCm39) V536E probably damaging Het
Tas2r140 T C 6: 133,032,405 (GRCm39) I118V probably benign Het
Tbx18 C A 9: 87,606,462 (GRCm39) V228L probably benign Het
Tdrd9 T A 12: 111,974,014 (GRCm39) probably benign Het
Tektl1 C A 10: 78,586,381 (GRCm39) L223F probably benign Het
Tg T C 15: 66,609,370 (GRCm39) M310T probably benign Het
Ticam2 T A 18: 46,693,718 (GRCm39) D123V probably damaging Het
Timm23 A G 14: 31,920,993 (GRCm39) probably benign Het
Tinag C T 9: 76,912,969 (GRCm39) R280H probably benign Het
Topbp1 G A 9: 103,186,011 (GRCm39) R51K probably benign Het
Tor1b A G 2: 30,843,925 (GRCm39) I121V probably damaging Het
Tpmt C A 13: 47,185,930 (GRCm39) G148V probably damaging Het
Tubb1 A G 2: 174,299,548 (GRCm39) E410G probably damaging Het
Ubash3b C A 9: 40,958,360 (GRCm39) V7L possibly damaging Het
Ube2o C T 11: 116,433,661 (GRCm39) E686K probably damaging Het
Unc13d T A 11: 115,960,318 (GRCm39) probably benign Het
Vmn1r183 A T 7: 23,754,601 (GRCm39) M135L probably benign Het
Xkr8 T C 4: 132,459,649 (GRCm39) Y43C probably damaging Het
Zc3h4 T A 7: 16,168,697 (GRCm39) N935K unknown Het
Zc3h7a G A 16: 10,974,167 (GRCm39) probably benign Het
Zfp84 C T 7: 29,476,276 (GRCm39) H323Y probably damaging Het
Zfp873 G T 10: 81,896,595 (GRCm39) S442I possibly damaging Het
Zfp938 A G 10: 82,061,606 (GRCm39) L338P probably damaging Het
Other mutations in Pipox
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01597:Pipox APN 11 77,774,019 (GRCm39) missense probably damaging 0.99
IGL02230:Pipox APN 11 77,772,032 (GRCm39) missense probably damaging 1.00
pickled UTSW 11 77,772,005 (GRCm39) missense possibly damaging 0.89
PIT4519001:Pipox UTSW 11 77,774,001 (GRCm39) missense probably damaging 1.00
R0523:Pipox UTSW 11 77,782,965 (GRCm39) missense probably damaging 1.00
R1375:Pipox UTSW 11 77,772,036 (GRCm39) nonsense probably null
R1809:Pipox UTSW 11 77,772,360 (GRCm39) missense probably benign 0.07
R1834:Pipox UTSW 11 77,772,949 (GRCm39) missense probably damaging 1.00
R1897:Pipox UTSW 11 77,773,568 (GRCm39) missense probably damaging 1.00
R2436:Pipox UTSW 11 77,782,943 (GRCm39) missense probably damaging 1.00
R4674:Pipox UTSW 11 77,784,596 (GRCm39) missense probably benign 0.02
R6480:Pipox UTSW 11 77,773,474 (GRCm39) missense probably damaging 1.00
R6586:Pipox UTSW 11 77,772,005 (GRCm39) missense possibly damaging 0.89
R6883:Pipox UTSW 11 77,774,729 (GRCm39) missense probably benign 0.02
R6918:Pipox UTSW 11 77,772,380 (GRCm39) missense probably damaging 0.99
R7223:Pipox UTSW 11 77,772,012 (GRCm39) missense probably damaging 1.00
R8140:Pipox UTSW 11 77,774,735 (GRCm39) missense probably benign 0.00
R8265:Pipox UTSW 11 77,774,793 (GRCm39) missense probably benign
R8725:Pipox UTSW 11 77,774,804 (GRCm39) nonsense probably null
R9049:Pipox UTSW 11 77,772,380 (GRCm39) missense probably damaging 0.99
R9239:Pipox UTSW 11 77,774,765 (GRCm39) missense probably benign 0.01
R9491:Pipox UTSW 11 77,772,359 (GRCm39) missense probably benign 0.03
Z1177:Pipox UTSW 11 77,772,356 (GRCm39) missense possibly damaging 0.55
Predicted Primers PCR Primer
(F):5'- TTCAGCCTGGGAGACCAAATGC -3'
(R):5'- TTCCGAAACAGGCAGACTGAGC -3'

Sequencing Primer
(F):5'- acaaacaaacaaacaaacaaacaaac -3'
(R):5'- CTCTTACTTCTGGGGACGAAGG -3'
Posted On 2013-07-30