Incidental Mutation 'R0087:Agps'
ID 19932
Institutional Source Beutler Lab
Gene Symbol Agps
Ensembl Gene ENSMUSG00000042410
Gene Name alkylglycerone phosphate synthase
Synonyms 9930035G10Rik, bs2, ADAPS
MMRRC Submission 038374-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0087 (G1)
Quality Score 99
Status Validated (trace)
Chromosome 2
Chromosomal Location 75662521-75761694 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75739979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 488 (Y488N)
Ref Sequence ENSEMBL: ENSMUSP00000135457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047232] [ENSMUST00000175646]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000047232
AA Change: Y591N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000041967
Gene: ENSMUSG00000042410
AA Change: Y591N

DomainStartEndE-ValueType
low complexity region 24 37 N/A INTRINSIC
low complexity region 73 95 N/A INTRINSIC
Pfam:FAD_binding_4 219 362 3.2e-43 PFAM
Pfam:FAD-oxidase_C 397 670 4.2e-61 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000175646
AA Change: Y488N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135457
Gene: ENSMUSG00000042410
AA Change: Y488N

DomainStartEndE-ValueType
Pfam:FAD_binding_4 116 259 1.2e-43 PFAM
Pfam:FAD-oxidase_C 294 567 2.6e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176973
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177204
Meta Mutation Damage Score 0.9661 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 93.5%
  • 20x: 82.3%
Validation Efficiency 86% (59/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the FAD-binding oxidoreductase/transferase type 4 family. It encodes a protein that catalyzes the second step of ether lipid biosynthesis in which acyl-dihydroxyacetonephosphate (DHAP) is converted to alkyl-DHAP by the addition of a long chain alcohol and the removal of a long-chain acid anion. The protein is localized to the inner aspect of the peroxisomal membrane and requires FAD as a cofactor. Mutations in this gene have been associated with rhizomelic chondrodysplasia punctata, type 3 and Zellweger syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous allele exhibit male infertility, azoospermia, microphthalmia, and cataracts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add3 T A 19: 53,215,038 (GRCm39) L71Q probably damaging Het
Adgrv1 T A 13: 81,535,070 (GRCm39) I5732F probably damaging Het
Adss2 A T 1: 177,598,788 (GRCm39) V330E probably benign Het
Ap3s1 A T 18: 46,891,106 (GRCm39) R66S probably damaging Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Atp2a2 C T 5: 122,599,024 (GRCm39) V593I probably benign Het
Chrna6 C T 8: 27,897,014 (GRCm39) V288M probably damaging Het
Col4a2 C T 8: 11,491,296 (GRCm39) L1232F probably benign Het
Dcaf1 A G 9: 106,740,288 (GRCm39) N1225D probably damaging Het
Degs1 A G 1: 182,106,875 (GRCm39) I128T probably benign Het
Dnaaf11 T C 15: 66,341,824 (GRCm39) T91A probably benign Het
Dnah5 A T 15: 28,350,759 (GRCm39) T2594S probably damaging Het
Dnah8 G T 17: 30,974,093 (GRCm39) R2826L probably damaging Het
Elf3 A G 1: 135,184,875 (GRCm39) Y104H probably damaging Het
Fam222b C A 11: 78,044,718 (GRCm39) T93N probably benign Het
Fbxw26 A G 9: 109,554,006 (GRCm39) I211T probably benign Het
Fcho2 T C 13: 98,871,594 (GRCm39) T541A probably benign Het
Flg2 T C 3: 93,109,738 (GRCm39) S589P unknown Het
Foxj3 T A 4: 119,483,597 (GRCm39) V589E unknown Het
Gria1 A G 11: 57,208,538 (GRCm39) Y742C probably damaging Het
Inpp5d T C 1: 87,642,860 (GRCm39) S672P probably damaging Het
Lrrc19 A C 4: 94,529,009 (GRCm39) F91C probably damaging Het
Mppe1 A G 18: 67,358,775 (GRCm39) *398R probably null Het
Mroh3 T C 1: 136,118,541 (GRCm39) I561V probably benign Het
Myh11 C A 16: 14,041,883 (GRCm39) Q720H probably damaging Het
Nbea G T 3: 55,998,444 (GRCm39) T121K possibly damaging Het
Nbr1 A C 11: 101,455,519 (GRCm39) D91A probably benign Het
Ncam2 C A 16: 81,231,789 (GRCm39) N84K probably benign Het
Or4c35 T C 2: 89,808,475 (GRCm39) Y118H probably damaging Het
Or51ac3 A T 7: 103,213,569 (GRCm39) C306S probably benign Het
Or52h9 A G 7: 104,202,869 (GRCm39) I248V possibly damaging Het
Or52z13 A G 7: 103,246,928 (GRCm39) Y135C probably benign Het
Or6b6 A G 7: 106,571,323 (GRCm39) V76A probably benign Het
Pdgfrb A T 18: 61,194,585 (GRCm39) I121F probably damaging Het
Peak1 A T 9: 56,165,609 (GRCm39) I773N probably damaging Het
Pfkfb4 G T 9: 108,836,769 (GRCm39) V155F probably damaging Het
Pkm C T 9: 59,585,382 (GRCm39) R455* probably null Het
Plbd2 C A 5: 120,632,550 (GRCm39) E151* probably null Het
Pld5 G A 1: 175,812,025 (GRCm39) T353M probably damaging Het
Psme2b A T 11: 48,836,544 (GRCm39) D134E possibly damaging Het
Rida T A 15: 34,488,772 (GRCm39) D40V possibly damaging Het
Rnf126 A T 10: 79,595,068 (GRCm39) H265Q probably damaging Het
Rock2 C A 12: 16,978,967 (GRCm39) Q86K probably benign Het
Serpinb1b A T 13: 33,269,302 (GRCm39) T12S probably benign Het
Slco6c1 T A 1: 97,046,303 (GRCm39) Q277L probably benign Het
Spmap2 A T 10: 79,421,785 (GRCm39) Y144* probably null Het
Sptlc2 T A 12: 87,415,892 (GRCm39) H45L probably benign Het
Srsf4 A G 4: 131,627,641 (GRCm39) probably benign Het
Sspo A G 6: 48,454,719 (GRCm39) S2969G probably damaging Het
Steap1 C T 5: 5,786,664 (GRCm39) G258R probably damaging Het
Stk19 A T 17: 35,055,851 (GRCm39) M1K probably null Het
Stk-ps2 C A 1: 46,069,049 (GRCm39) noncoding transcript Het
Taf1c C T 8: 120,327,726 (GRCm39) R332H probably damaging Het
Thbs4 T A 13: 92,891,743 (GRCm39) T791S probably damaging Het
Tjap1 A G 17: 46,574,652 (GRCm39) L21P probably damaging Het
Tmem145 A G 7: 25,007,268 (GRCm39) Y148C probably damaging Het
Tmem267 T A 13: 120,070,810 (GRCm39) V155E probably benign Het
Tns1 T A 1: 73,956,076 (GRCm39) H549L possibly damaging Het
Tyro3 T G 2: 119,632,182 (GRCm39) I83S probably benign Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Vmn1r53 A T 6: 90,200,413 (GRCm39) C304S probably benign Het
Vwf G A 6: 125,622,917 (GRCm39) M1761I probably benign Het
Zfp276 T C 8: 123,991,786 (GRCm39) Y445H probably damaging Het
Zfp407 A T 18: 84,578,536 (GRCm39) I859N probably damaging Het
Other mutations in Agps
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00811:Agps APN 2 75,756,316 (GRCm39) missense probably benign 0.00
IGL01373:Agps APN 2 75,683,128 (GRCm39) missense probably benign 0.00
IGL01958:Agps APN 2 75,740,045 (GRCm39) critical splice donor site probably null
IGL02691:Agps APN 2 75,722,204 (GRCm39) missense probably benign 0.04
R0323:Agps UTSW 2 75,724,505 (GRCm39) nonsense probably null
R1116:Agps UTSW 2 75,692,269 (GRCm39) splice site probably benign
R1511:Agps UTSW 2 75,697,123 (GRCm39) missense probably damaging 1.00
R2049:Agps UTSW 2 75,689,270 (GRCm39) missense probably benign
R4770:Agps UTSW 2 75,722,199 (GRCm39) missense possibly damaging 0.94
R5418:Agps UTSW 2 75,689,248 (GRCm39) missense probably damaging 1.00
R5457:Agps UTSW 2 75,684,596 (GRCm39) missense probably benign 0.01
R6795:Agps UTSW 2 75,724,402 (GRCm39) missense probably damaging 0.98
R7286:Agps UTSW 2 75,683,128 (GRCm39) missense probably benign 0.22
R7367:Agps UTSW 2 75,698,657 (GRCm39) missense possibly damaging 0.67
R7529:Agps UTSW 2 75,662,696 (GRCm39) missense possibly damaging 0.85
R7842:Agps UTSW 2 75,681,876 (GRCm39) missense probably damaging 1.00
R8416:Agps UTSW 2 75,684,547 (GRCm39) missense probably benign
R9149:Agps UTSW 2 75,697,182 (GRCm39) missense probably damaging 0.99
R9261:Agps UTSW 2 75,684,850 (GRCm39) intron probably benign
R9371:Agps UTSW 2 75,742,024 (GRCm39) critical splice donor site probably null
R9393:Agps UTSW 2 75,735,256 (GRCm39) missense possibly damaging 0.67
R9453:Agps UTSW 2 75,662,585 (GRCm39) missense probably damaging 0.99
R9555:Agps UTSW 2 75,683,091 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGGCTGTGCATGTTAAAAGCAGAC -3'
(R):5'- GTGTGACAACGGTGACGCAAAC -3'

Sequencing Primer
(F):5'- AATGAGTTGAGCCATGTACTTGC -3'
(R):5'- GGTGACGCAAACTAAAATCCCTAAG -3'
Posted On 2013-04-11