Incidental Mutation 'R1511:Agps'
ID 168275
Institutional Source Beutler Lab
Gene Symbol Agps
Ensembl Gene ENSMUSG00000042410
Gene Name alkylglycerone phosphate synthase
Synonyms bs2, ADAPS, 9930035G10Rik
MMRRC Submission 039558-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1511 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 75832177-75931350 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 75866779 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 314 (E314D)
Ref Sequence ENSEMBL: ENSMUSP00000107583 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047232] [ENSMUST00000111952] [ENSMUST00000175646] [ENSMUST00000176056]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000047232
AA Change: E314D

PolyPhen 2 Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000041967
Gene: ENSMUSG00000042410
AA Change: E314D

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: ENSMUST00000111952
AA Change: E314D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107583
Gene: ENSMUSG00000042410
AA Change: E314D

low complexity region 24 37 N/A INTRINSIC
low complexity region 73 95 N/A INTRINSIC
Pfam:FAD_binding_4 219 362 4.7e-43 PFAM
Pfam:FAD-oxidase_C 397 508 5.2e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000175646
AA Change: E211D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135457
Gene: ENSMUSG00000042410
AA Change: E211D

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: ENSMUST00000176056
SMART Domains Protein: ENSMUSP00000134773
Gene: ENSMUSG00000042410

SCOP:d1e8ga1 1 50 2e-15 SMART
PDB:4BCA|D 1 53 3e-31 PDB
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.4%
  • 20x: 89.7%
Validation Efficiency
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs C A 5: 125,514,977 (GRCm38) N576K probably benign Het
Abca5 T A 11: 110,299,986 (GRCm38) H766L possibly damaging Het
Abca5 G T 11: 110,299,978 (GRCm38) L769M probably damaging Het
Acvr1c A G 2: 58,287,884 (GRCm38) I191T probably damaging Het
Agxt G A 1: 93,135,768 (GRCm38) G131R probably damaging Het
Ak8 A G 2: 28,742,746 (GRCm38) T326A probably benign Het
Aldoart2 T A 12: 55,566,277 (GRCm38) I329N probably benign Het
Apaf1 T C 10: 91,060,185 (GRCm38) I342V possibly damaging Het
Arhgap40 T C 2: 158,527,161 (GRCm38) S68P probably benign Het
Arsi G A 18: 60,916,651 (GRCm38) G202E probably benign Het
AU022252 C T 4: 119,228,097 (GRCm38) R71Q possibly damaging Het
Baz1b T C 5: 135,217,782 (GRCm38) L695P probably damaging Het
Baz2b A T 2: 59,962,024 (GRCm38) S587T probably benign Het
Cep76 T C 18: 67,624,958 (GRCm38) M421V probably benign Het
Clk2 A G 3: 89,168,703 (GRCm38) D60G probably damaging Het
Clstn3 G T 6: 124,462,169 (GRCm38) T6K probably damaging Het
Cluap1 T A 16: 3,919,558 (GRCm38) D180E probably benign Het
Col12a1 T C 9: 79,699,552 (GRCm38) I530V probably benign Het
Cpt1a T C 19: 3,365,788 (GRCm38) probably benign Het
Cr2 T G 1: 195,155,272 (GRCm38) K797Q possibly damaging Het
Crybg3 C A 16: 59,554,112 (GRCm38) V2260L probably benign Het
Csnk1a1 T A 18: 61,585,250 (GRCm38) probably benign Het
Cxcr1 T C 1: 74,192,770 (GRCm38) D31G probably benign Het
Cyp2a5 G T 7: 26,835,936 (GRCm38) D108Y probably damaging Het
Dnajc1 A G 2: 18,222,727 (GRCm38) V376A possibly damaging Het
Eif4enif1 T C 11: 3,236,278 (GRCm38) V462A probably benign Het
Elmo1 A G 13: 20,290,477 (GRCm38) K357R possibly damaging Het
Eml6 T A 11: 29,818,374 (GRCm38) H771L probably damaging Het
Epb41l4a A G 18: 33,832,664 (GRCm38) I370T probably benign Het
Esp36 A T 17: 38,417,281 (GRCm38) N79K possibly damaging Het
Fam229b A G 10: 39,118,919 (GRCm38) *81Q probably null Het
Fat4 T C 3: 38,983,076 (GRCm38) Y3626H probably damaging Het
Fbn1 A T 2: 125,306,285 (GRCm38) F2681Y probably benign Het
Gad1-ps A G 10: 99,445,469 (GRCm38) noncoding transcript Het
Galm C A 17: 80,183,267 (GRCm38) N284K probably damaging Het
Gtf3c2 A T 5: 31,159,102 (GRCm38) S735T probably benign Het
Hsph1 A T 5: 149,630,383 (GRCm38) S207T probably benign Het
Il33 C T 19: 29,955,215 (GRCm38) R159C probably damaging Het
Invs A G 4: 48,382,148 (GRCm38) N106S possibly damaging Het
Kif21b G T 1: 136,169,324 (GRCm38) probably null Het
Kirrel2 A G 7: 30,456,498 (GRCm38) C42R probably damaging Het
Letm1 A C 5: 33,752,555 (GRCm38) C378W probably damaging Het
Lrrc71 T A 3: 87,745,484 (GRCm38) K160N probably benign Het
Lrrtm3 A G 10: 64,089,025 (GRCm38) I121T probably damaging Het
Lztr1 T A 16: 17,509,670 (GRCm38) V79E probably damaging Het
Mmp8 T G 9: 7,566,278 (GRCm38) D378E probably damaging Het
Mpzl3 A G 9: 45,066,529 (GRCm38) E145G probably damaging Het
Mrps2 C T 2: 28,469,664 (GRCm38) L178F probably damaging Het
Mzb1 A G 18: 35,647,822 (GRCm38) probably null Het
Nckap1 T C 2: 80,553,415 (GRCm38) D135G probably damaging Het
Ndst1 A G 18: 60,697,170 (GRCm38) F623L possibly damaging Het
Nlrp5 A T 7: 23,413,347 (GRCm38) D143V probably damaging Het
Olfr548-ps1 T C 7: 102,542,125 (GRCm38) L63P probably damaging Het
Or14a260 T C 7: 86,336,345 (GRCm38) D17G possibly damaging Het
Or4a69 T C 2: 89,482,248 (GRCm38) M296V probably null Het
Or4b1d A G 2: 90,138,404 (GRCm38) V245A probably benign Het
Or4c120 A G 2: 89,170,937 (GRCm38) S92P probably damaging Het
Or4f58 A G 2: 112,021,404 (GRCm38) V150A probably benign Het
Or8b44 A G 9: 38,498,818 (GRCm38) I50V probably benign Het
Or8g17 T C 9: 39,019,025 (GRCm38) D172G probably benign Het
Parp14 T G 16: 35,857,224 (GRCm38) E791D probably benign Het
Pcdh8 C T 14: 79,769,389 (GRCm38) R578H possibly damaging Het
Phrf1 T A 7: 141,259,801 (GRCm38) probably benign Het
Polr3b C A 10: 84,680,385 (GRCm38) H626N probably benign Het
Ppp1r12a A G 10: 108,251,859 (GRCm38) T58A probably benign Het
Ppp4r3b T A 11: 29,182,460 (GRCm38) V33D probably damaging Het
Ppp5c A G 7: 17,009,982 (GRCm38) Y176H probably damaging Het
R3hdm1 A G 1: 128,197,005 (GRCm38) Y343C probably damaging Het
Rabac1 C T 7: 24,972,130 (GRCm38) V122M probably damaging Het
Rasef G T 4: 73,735,748 (GRCm38) Q561K probably damaging Het
Rbl1 A G 2: 157,195,634 (GRCm38) S198P probably damaging Het
Rbm12 A T 2: 156,097,536 (GRCm38) M272K probably damaging Het
Rexo1 T G 10: 80,550,050 (GRCm38) K391N possibly damaging Het
Rnf43 T C 11: 87,731,347 (GRCm38) S384P probably benign Het
Rpsa A T 9: 120,131,000 (GRCm38) I210F possibly damaging Het
Rslcan18 A G 13: 67,098,952 (GRCm38) Y75H possibly damaging Het
Scn9a T A 2: 66,526,813 (GRCm38) D1048V probably benign Het
Sec11a T C 7: 80,927,734 (GRCm38) probably null Het
Sidt2 A G 9: 45,950,089 (GRCm38) V19A probably damaging Het
Snx14 G A 9: 88,398,364 (GRCm38) Q522* probably null Het
Stx1b A G 7: 127,814,972 (GRCm38) L74S probably damaging Het
Tm7sf3 A T 6: 146,609,878 (GRCm38) M371K probably benign Het
Tmem115 T C 9: 107,534,975 (GRCm38) V166A probably benign Het
Traf5 T A 1: 191,999,951 (GRCm38) T310S probably benign Het
Trdn A G 10: 33,466,452 (GRCm38) K619E probably benign Het
Trmt10a T A 3: 138,152,184 (GRCm38) probably null Het
Txk A C 5: 72,707,671 (GRCm38) I287R probably damaging Het
Txndc16 T C 14: 45,151,887 (GRCm38) D452G probably damaging Het
Ube2f G A 1: 91,262,301 (GRCm38) probably null Het
Ubtfl1 T G 9: 18,410,193 (GRCm38) I339R probably benign Het
Upf1 A G 8: 70,338,505 (GRCm38) I529T probably damaging Het
Vmn1r197 A G 13: 22,328,653 (GRCm38) D248G possibly damaging Het
Vmn1r5 A T 6: 56,985,786 (GRCm38) T149S probably benign Het
Vmn1r83 C T 7: 12,321,270 (GRCm38) V287I possibly damaging Het
Vmn2r118 G A 17: 55,608,496 (GRCm38) R485* probably null Het
Vmn2r-ps130 A G 17: 23,063,801 (GRCm38) T152A probably benign Het
Vps13b T C 15: 35,839,975 (GRCm38) F2448L probably damaging Het
Vps13b A G 15: 35,841,573 (GRCm38) N2583S probably benign Het
Wscd1 C T 11: 71,788,675 (GRCm38) P458L probably damaging Het
Xylt2 T A 11: 94,670,433 (GRCm38) D168V probably damaging Het
Zdhhc2 A G 8: 40,467,972 (GRCm38) T306A probably benign Het
Zfp804b A T 5: 6,769,771 (GRCm38) D1097E possibly damaging Het
Zfp93 T A 7: 24,275,731 (GRCm38) C380* probably null Het
Zfp960 T A 17: 17,088,256 (GRCm38) C411S probably damaging Het
Zmynd15 T A 11: 70,464,793 (GRCm38) V430E probably damaging Het
Other mutations in Agps
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00811:Agps APN 2 75,925,972 (GRCm38) missense probably benign 0.00
IGL01373:Agps APN 2 75,852,784 (GRCm38) missense probably benign 0.00
IGL01958:Agps APN 2 75,909,701 (GRCm38) critical splice donor site probably null
IGL02691:Agps APN 2 75,891,860 (GRCm38) missense probably benign 0.04
R0087:Agps UTSW 2 75,909,635 (GRCm38) missense probably damaging 1.00
R0323:Agps UTSW 2 75,894,161 (GRCm38) nonsense probably null
R1116:Agps UTSW 2 75,861,925 (GRCm38) splice site probably benign
R2049:Agps UTSW 2 75,858,926 (GRCm38) missense probably benign
R4770:Agps UTSW 2 75,891,855 (GRCm38) missense possibly damaging 0.94
R5418:Agps UTSW 2 75,858,904 (GRCm38) missense probably damaging 1.00
R5457:Agps UTSW 2 75,854,252 (GRCm38) missense probably benign 0.01
R6795:Agps UTSW 2 75,894,058 (GRCm38) missense probably damaging 0.98
R7286:Agps UTSW 2 75,852,784 (GRCm38) missense probably benign 0.22
R7367:Agps UTSW 2 75,868,313 (GRCm38) missense possibly damaging 0.67
R7529:Agps UTSW 2 75,832,352 (GRCm38) missense possibly damaging 0.85
R7842:Agps UTSW 2 75,851,532 (GRCm38) missense probably damaging 1.00
R8416:Agps UTSW 2 75,854,203 (GRCm38) missense probably benign
R9149:Agps UTSW 2 75,866,838 (GRCm38) missense probably damaging 0.99
R9261:Agps UTSW 2 75,854,506 (GRCm38) intron probably benign
R9371:Agps UTSW 2 75,911,680 (GRCm38) critical splice donor site probably null
R9393:Agps UTSW 2 75,904,912 (GRCm38) missense possibly damaging 0.67
R9453:Agps UTSW 2 75,832,241 (GRCm38) missense probably damaging 0.99
R9555:Agps UTSW 2 75,852,747 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
(F):5'- cacacacacacacacacac -3'
Posted On 2014-04-13