Incidental Mutation 'R1488:Aoc1l2'
ID 165494
Institutional Source Beutler Lab
Gene Symbol Aoc1l2
Ensembl Gene ENSMUSG00000029813
Gene Name amine oxidase copper containing 1-like 2
Synonyms 1600015I10Rik, Doxl1
MMRRC Submission 039540-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.192) question?
Stock # R1488 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 48906830-48910621 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48910381 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 691 (N691S)
Ref Sequence ENSEMBL: ENSMUSP00000031837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031837]
AlphaFold E9Q745
Predicted Effect possibly damaging
Transcript: ENSMUST00000031837
AA Change: N691S

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031837
Gene: ENSMUSG00000029813
AA Change: N691S

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:Cu_amine_oxidN2 50 136 1.7e-25 PFAM
Pfam:Cu_amine_oxidN3 152 252 3.5e-16 PFAM
Pfam:Cu_amine_oxid 306 708 7.1e-94 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158710
Meta Mutation Damage Score 0.3378 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.3%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap23 A G 11: 97,391,685 (GRCm39) S1401G possibly damaging Het
Art2b A C 7: 101,229,414 (GRCm39) F162V probably damaging Het
Atg4c T A 4: 99,109,479 (GRCm39) W149R probably damaging Het
Atxn1l A G 8: 110,460,049 (GRCm39) I71T probably benign Het
Axdnd1 T A 1: 156,176,530 (GRCm39) L748F probably damaging Het
Bdh2 A G 3: 135,002,602 (GRCm39) Y157C probably damaging Het
C2cd4a G T 9: 67,738,990 (GRCm39) R18S probably benign Het
Catsperb A G 12: 101,560,526 (GRCm39) H839R probably damaging Het
Ccdc24 C A 4: 117,727,765 (GRCm39) S134I possibly damaging Het
Cd55 G T 1: 130,376,115 (GRCm39) T70K probably damaging Het
Cdh10 A T 15: 19,013,349 (GRCm39) I650F probably damaging Het
Clca3a2 T A 3: 144,789,925 (GRCm39) K470N possibly damaging Het
Csn2 G A 5: 87,842,755 (GRCm39) Q91* probably null Het
Ctsh G A 9: 89,953,944 (GRCm39) D218N possibly damaging Het
Cyb5r4 C G 9: 86,911,591 (GRCm39) Y88* probably null Het
Dgkq A G 5: 108,798,743 (GRCm39) F601S probably damaging Het
Eci2 A G 13: 35,161,916 (GRCm39) V352A probably benign Het
Krt28 T C 11: 99,255,997 (GRCm39) T421A probably benign Het
Lamp5 T C 2: 135,911,011 (GRCm39) V248A probably benign Het
Lin9 T A 1: 180,515,850 (GRCm39) L483Q possibly damaging Het
Lrp1b C A 2: 41,392,036 (GRCm39) M509I probably benign Het
Lrrfip1 T C 1: 91,042,354 (GRCm39) V253A probably damaging Het
Mpdz C A 4: 81,266,945 (GRCm39) E981* probably null Het
Mpo A C 11: 87,688,256 (GRCm39) N305T probably damaging Het
Or2y1 A G 11: 49,385,945 (GRCm39) E195G probably benign Het
Or51a24 T C 7: 103,733,859 (GRCm39) I143V probably benign Het
Or5p79 A T 7: 108,221,696 (GRCm39) I226F probably damaging Het
Papss2 T C 19: 32,614,490 (GRCm39) S69P probably benign Het
Pcdhb22 A G 18: 37,652,941 (GRCm39) T470A possibly damaging Het
Plce1 A G 19: 38,705,247 (GRCm39) D884G possibly damaging Het
Prex2 T A 1: 11,263,752 (GRCm39) I1239K probably benign Het
Prkd2 T A 7: 16,592,364 (GRCm39) F625I probably damaging Het
Rab20 A T 8: 11,504,268 (GRCm39) V144E probably benign Het
Rnf213 A G 11: 119,371,715 (GRCm39) N4840S probably benign Het
Scaf8 T G 17: 3,247,872 (GRCm39) M1065R probably damaging Het
Slco3a1 A G 7: 73,996,449 (GRCm39) L319P possibly damaging Het
Slit1 A G 19: 41,596,824 (GRCm39) C1092R probably damaging Het
Tlr4 A G 4: 66,757,786 (GRCm39) D193G probably damaging Het
Tmem145 T A 7: 25,006,860 (GRCm39) probably null Het
Tmem184a T A 5: 139,793,395 (GRCm39) K235N probably benign Het
Tnpo1 A T 13: 98,993,415 (GRCm39) D590E probably damaging Het
Trio C A 15: 27,741,053 (GRCm39) G2724V probably damaging Het
Ttc6 A T 12: 57,696,301 (GRCm39) Y34F possibly damaging Het
Tuba4a T C 1: 75,193,045 (GRCm39) T190A probably benign Het
Tubgcp4 T G 2: 121,007,031 (GRCm39) V136G possibly damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn1r74 T C 7: 11,581,510 (GRCm39) I270T probably benign Het
Vmn2r103 A T 17: 20,013,922 (GRCm39) E238V probably damaging Het
Vmn2r60 T A 7: 41,786,137 (GRCm39) F313L probably benign Het
Zfp710 T C 7: 79,731,752 (GRCm39) Y310H probably damaging Het
Other mutations in Aoc1l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00925:Aoc1l2 APN 6 48,907,974 (GRCm39) missense probably damaging 1.00
IGL01347:Aoc1l2 APN 6 48,909,477 (GRCm39) missense probably benign 0.02
IGL01751:Aoc1l2 APN 6 48,907,522 (GRCm39) missense possibly damaging 0.79
IGL01915:Aoc1l2 APN 6 48,908,582 (GRCm39) missense probably damaging 1.00
IGL02669:Aoc1l2 APN 6 48,908,407 (GRCm39) missense probably damaging 1.00
IGL03033:Aoc1l2 APN 6 48,909,452 (GRCm39) missense probably benign 0.00
IGL03242:Aoc1l2 APN 6 48,909,479 (GRCm39) missense possibly damaging 0.68
R0096:Aoc1l2 UTSW 6 48,908,122 (GRCm39) missense probably damaging 1.00
R0096:Aoc1l2 UTSW 6 48,908,122 (GRCm39) missense probably damaging 1.00
R0448:Aoc1l2 UTSW 6 48,909,991 (GRCm39) missense probably damaging 1.00
R1498:Aoc1l2 UTSW 6 48,908,305 (GRCm39) missense probably benign 0.00
R1520:Aoc1l2 UTSW 6 48,908,231 (GRCm39) nonsense probably null
R1922:Aoc1l2 UTSW 6 48,908,220 (GRCm39) missense probably benign 0.00
R1992:Aoc1l2 UTSW 6 48,907,703 (GRCm39) missense probably damaging 1.00
R1997:Aoc1l2 UTSW 6 48,909,363 (GRCm39) missense probably damaging 0.98
R2021:Aoc1l2 UTSW 6 48,908,385 (GRCm39) missense probably damaging 1.00
R3771:Aoc1l2 UTSW 6 48,908,130 (GRCm39) missense probably damaging 1.00
R4208:Aoc1l2 UTSW 6 48,908,581 (GRCm39) missense probably damaging 1.00
R4790:Aoc1l2 UTSW 6 48,907,486 (GRCm39) missense probably damaging 0.99
R5114:Aoc1l2 UTSW 6 48,908,292 (GRCm39) missense probably benign 0.02
R5610:Aoc1l2 UTSW 6 48,907,953 (GRCm39) missense probably benign 0.00
R5823:Aoc1l2 UTSW 6 48,907,486 (GRCm39) missense probably damaging 0.99
R5847:Aoc1l2 UTSW 6 48,910,412 (GRCm39) missense probably damaging 1.00
R6233:Aoc1l2 UTSW 6 48,907,899 (GRCm39) missense probably benign
R6357:Aoc1l2 UTSW 6 48,907,908 (GRCm39) missense probably benign 0.00
R6694:Aoc1l2 UTSW 6 48,907,480 (GRCm39) missense probably benign 0.21
R6733:Aoc1l2 UTSW 6 48,907,464 (GRCm39) missense probably damaging 1.00
R6894:Aoc1l2 UTSW 6 48,907,596 (GRCm39) missense probably damaging 1.00
R6898:Aoc1l2 UTSW 6 48,907,975 (GRCm39) missense probably damaging 0.97
R6916:Aoc1l2 UTSW 6 48,907,987 (GRCm39) missense probably benign 0.01
R7242:Aoc1l2 UTSW 6 48,908,062 (GRCm39) missense probably damaging 1.00
R7762:Aoc1l2 UTSW 6 48,909,620 (GRCm39) missense probably benign 0.07
R8257:Aoc1l2 UTSW 6 48,909,431 (GRCm39) missense probably benign 0.04
R8391:Aoc1l2 UTSW 6 48,909,602 (GRCm39) missense probably damaging 0.96
R8839:Aoc1l2 UTSW 6 48,907,974 (GRCm39) missense probably damaging 1.00
R8863:Aoc1l2 UTSW 6 48,907,042 (GRCm39) missense probably benign 0.00
R9266:Aoc1l2 UTSW 6 48,907,171 (GRCm39) missense probably benign 0.00
R9274:Aoc1l2 UTSW 6 48,907,341 (GRCm39) missense possibly damaging 0.94
R9380:Aoc1l2 UTSW 6 48,910,064 (GRCm39) missense probably damaging 1.00
R9382:Aoc1l2 UTSW 6 48,907,298 (GRCm39) missense probably benign 0.08
R9562:Aoc1l2 UTSW 6 48,907,909 (GRCm39) missense probably benign 0.01
R9565:Aoc1l2 UTSW 6 48,907,909 (GRCm39) missense probably benign 0.01
R9703:Aoc1l2 UTSW 6 48,909,629 (GRCm39) missense probably benign 0.01
R9781:Aoc1l2 UTSW 6 48,907,660 (GRCm39) missense possibly damaging 0.58
X0062:Aoc1l2 UTSW 6 48,910,066 (GRCm39) missense possibly damaging 0.55
Z1176:Aoc1l2 UTSW 6 48,909,402 (GRCm39) missense probably benign 0.38
Predicted Primers PCR Primer
(F):5'- GTGGAACTGAGGACATCCCATGAAG -3'
(R):5'- GCCACAGGATGAGAGTGCTGATAATC -3'

Sequencing Primer
(F):5'- GGACATCCCATGAAGTCTGTG -3'
(R):5'- CATTAAGGTGGAACATTTCCCC -3'
Posted On 2014-03-28