Incidental Mutation 'R7842:Agps'
ID606350
Institutional Source Beutler Lab
Gene Symbol Agps
Ensembl Gene ENSMUSG00000042410
Gene Namealkylglycerone phosphate synthase
Synonymsbs2, ADAPS, 9930035G10Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7842 (G1)
Quality Score225.009
Status Not validated
Chromosome2
Chromosomal Location75832177-75931350 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 75851532 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 113 (D113G)
Ref Sequence ENSEMBL: ENSMUSP00000041967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047232] [ENSMUST00000111952] [ENSMUST00000175646]
Predicted Effect probably damaging
Transcript: ENSMUST00000047232
AA Change: D113G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041967
Gene: ENSMUSG00000042410
AA Change: D113G

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: ENSMUST00000111952
AA Change: D113G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107583
Gene: ENSMUSG00000042410
AA Change: D113G

DomainStartEndE-ValueType
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: D10G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135457
Gene: ENSMUSG00000042410
AA Change: D10G

DomainStartEndE-ValueType
Pfam:FAD_binding_4 116 259 1.2e-43 PFAM
Pfam:FAD-oxidase_C 294 567 2.6e-61 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T C 6: 146,953,536 T3A unknown Het
4933412E24Rik T C 15: 60,016,573 E6G probably damaging Het
Abca6 A G 11: 110,196,697 L1135P possibly damaging Het
Abcb11 GTTGATCCATACA G 2: 69,323,873 probably benign Het
Ankhd1 G T 18: 36,647,828 V1978L probably benign Het
Ankrd31 T A 13: 96,821,458 probably null Het
Arhgap5 T A 12: 52,518,697 M817K possibly damaging Het
Bdp1 C A 13: 100,099,129 V105F probably damaging Het
Brdt A G 5: 107,348,588 N189D possibly damaging Het
Ccdc180 A T 4: 45,909,428 N532I probably benign Het
Ccnc A C 4: 21,730,480 K39T probably damaging Het
Cfap57 C A 4: 118,554,755 G1231* probably null Het
Chd7 A T 4: 8,854,115 T1896S probably benign Het
Clk4 A T 11: 51,281,129 H412L probably benign Het
Creld1 T C 6: 113,488,139 L109P probably damaging Het
Cxxc4 A T 3: 134,240,332 I225L possibly damaging Het
Cyp4f39 A T 17: 32,483,317 R263W probably benign Het
Dip2c T C 13: 9,606,533 probably null Het
Dnah14 A G 1: 181,627,898 T863A probably damaging Het
Dnah17 C A 11: 118,079,682 probably null Het
Dnajc10 A G 2: 80,345,065 K599E probably benign Het
Dnajc7 C A 11: 100,598,718 R101L probably benign Het
Dnttip2 G A 3: 122,276,341 E402K probably benign Het
Egflam C A 15: 7,251,194 R450M probably null Het
Eml5 C T 12: 98,794,135 R1785Q probably damaging Het
Fam205c TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG 4: 42,871,823 probably benign Het
Fam45a G A 19: 60,830,879 A263T not run Het
Fam78b G T 1: 167,001,609 R15L probably damaging Het
Fbxl5 A T 5: 43,758,603 I489N probably damaging Het
Flt3 G A 5: 147,334,453 P893S probably damaging Het
Gm17019 T C 5: 15,031,035 M131V possibly damaging Het
Gm21560 T A 14: 6,216,262 I194F probably benign Het
Gm28729 T C 9: 96,517,652 D158G probably damaging Het
Hectd1 C T 12: 51,772,560 G1247S probably damaging Het
Ireb2 T A 9: 54,909,686 I946K probably benign Het
Itgb4 A T 11: 115,982,705 D249V probably benign Het
Klhdc7a A G 4: 139,967,238 S133P probably damaging Het
Lsr A T 7: 30,966,012 D172E possibly damaging Het
Macf1 T C 4: 123,526,909 E184G probably benign Het
Map2 T A 1: 66,416,411 D1421E probably benign Het
Map3k4 A T 17: 12,271,143 L467H possibly damaging Het
Mogat1 T C 1: 78,522,865 probably null Het
Mxra8 A G 4: 155,842,910 D384G probably damaging Het
Myo15b A G 11: 115,871,495 T1214A Het
Naip1 T C 13: 100,426,998 Y553C probably damaging Het
Nln A T 13: 104,052,629 I278K probably benign Het
Nsmaf T A 4: 6,435,109 probably null Het
Nynrin A G 14: 55,865,096 R741G probably damaging Het
Olfr1045 G T 2: 86,198,172 Y193* probably null Het
Olfr1166 C T 2: 88,124,986 probably benign Het
Olfr1208 A G 2: 88,896,961 V212A possibly damaging Het
Olfr603 A G 7: 103,383,576 V142A probably benign Het
Orc1 A G 4: 108,605,547 H607R probably benign Het
Pate2 A T 9: 35,670,533 Y41F probably damaging Het
Pcdhb20 A T 18: 37,505,059 T213S possibly damaging Het
Pcm1 G A 8: 41,327,584 E1858K possibly damaging Het
Pla2g2d A G 4: 138,778,778 T59A probably damaging Het
Ppl C T 16: 5,088,861 R1190H probably damaging Het
Prl2c2 A G 13: 13,005,322 L2P probably benign Het
Proz G A 8: 13,063,406 V76I probably benign Het
Prr36 A G 8: 4,210,953 S955P probably benign Het
Pter T C 2: 12,978,541 V119A probably damaging Het
Rbm15b T C 9: 106,885,889 E360G probably damaging Het
Skint11 G A 4: 114,244,771 C327Y possibly damaging Het
Spag17 T A 3: 100,053,858 S987T probably benign Het
Tbx1 T C 16: 18,586,615 S100G unknown Het
Tiam2 C T 17: 3,518,124 S1515L possibly damaging Het
Togaram1 C A 12: 64,966,459 D161E probably damaging Het
Trhde A T 10: 114,696,098 S366T possibly damaging Het
Ttc12 A G 9: 49,438,424 I691T possibly damaging Het
Uggt2 A T 14: 118,998,104 I1453N probably damaging Het
Unc79 T C 12: 103,092,054 S972P probably damaging Het
Wdr20 G A 12: 110,738,215 D63N probably benign Het
Wdr66 T C 5: 123,254,424 V207A unknown Het
Wls T A 3: 159,873,179 I126N probably benign Het
Xirp2 A G 2: 67,524,945 D3350G probably benign Het
Other mutations in Agps
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00811:Agps APN 2 75925972 missense probably benign 0.00
IGL01373:Agps APN 2 75852784 missense probably benign 0.00
IGL01958:Agps APN 2 75909701 critical splice donor site probably null
IGL02691:Agps APN 2 75891860 missense probably benign 0.04
R0087:Agps UTSW 2 75909635 missense probably damaging 1.00
R0323:Agps UTSW 2 75894161 nonsense probably null
R1116:Agps UTSW 2 75861925 splice site probably benign
R1511:Agps UTSW 2 75866779 missense probably damaging 1.00
R2049:Agps UTSW 2 75858926 missense probably benign
R4770:Agps UTSW 2 75891855 missense possibly damaging 0.94
R5418:Agps UTSW 2 75858904 missense probably damaging 1.00
R5457:Agps UTSW 2 75854252 missense probably benign 0.01
R6795:Agps UTSW 2 75894058 missense probably damaging 0.98
R7286:Agps UTSW 2 75852784 missense probably benign 0.22
R7367:Agps UTSW 2 75868313 missense possibly damaging 0.67
R7529:Agps UTSW 2 75832352 missense possibly damaging 0.85
R7920:Agps UTSW 2 75854107 intron probably null
R7925:Agps UTSW 2 75851532 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATGCATGAGAGCGTTGTATATGG -3'
(R):5'- CTTCCAATAAGTCAAAAGCATGGAG -3'

Sequencing Primer
(F):5'- AAGTAGTTCTGAGCCATCCCATGTG -3'
(R):5'- TTGGATCCTGATTCAGAAAATCCCC -3'
Posted On2019-12-20