Incidental Mutation 'R9453:Agps'
ID 714376
Institutional Source Beutler Lab
Gene Symbol Agps
Ensembl Gene ENSMUSG00000042410
Gene Name alkylglycerone phosphate synthase
Synonyms 9930035G10Rik, bs2, ADAPS
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9453 (G1)
Quality Score 196.009
Status Not validated
Chromosome 2
Chromosomal Location 75662521-75761694 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 75662585 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 10 (D10A)
Ref Sequence ENSEMBL: ENSMUSP00000041967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047232] [ENSMUST00000111952] [ENSMUST00000175646]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000047232
AA Change: D10A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000041967
Gene: ENSMUSG00000042410
AA Change: D10A

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: D10A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107583
Gene: ENSMUSG00000042410
AA Change: D10A

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 benign
Transcript: ENSMUST00000175646
SMART Domains Protein: ENSMUSP00000135457
Gene: ENSMUSG00000042410

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: 99.6%
  • 20x: 98.6%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik G A 11: 58,771,054 (GRCm39) A179T probably benign Het
Abca6 A G 11: 110,138,090 (GRCm39) probably null Het
Atad2b T A 12: 5,081,578 (GRCm39) D1162E probably benign Het
Atp13a4 T C 16: 29,239,659 (GRCm39) K851R unknown Het
Cdh15 A G 8: 123,586,029 (GRCm39) D136G probably damaging Het
Cdk5rap1 A T 2: 154,190,585 (GRCm39) Y459N probably damaging Het
Cep192 A T 18: 67,989,354 (GRCm39) K1834* probably null Het
Cfap221 C T 1: 119,853,361 (GRCm39) V778I probably benign Het
Chpf G A 1: 75,452,854 (GRCm39) T362I probably benign Het
Cyp4x1 T C 4: 114,991,069 (GRCm39) R36G probably damaging Het
D16Ertd472e T A 16: 78,342,052 (GRCm39) Q276L probably damaging Het
Dapk3 T C 10: 81,025,825 (GRCm39) Y39H probably damaging Het
Eefsec T C 6: 88,353,337 (GRCm39) T111A probably damaging Het
Ehbp1l1 G A 19: 5,758,371 (GRCm39) R1714C unknown Het
Flcn A G 11: 59,694,609 (GRCm39) V121A probably damaging Het
Gaa G T 11: 119,165,958 (GRCm39) D423Y probably damaging Het
Gaa A C 11: 119,165,959 (GRCm39) D423A probably benign Het
Garnl3 A G 2: 32,893,881 (GRCm39) I694T probably damaging Het
Gm5114 T A 7: 39,058,242 (GRCm39) Q459L probably damaging Het
H1f0 C T 15: 78,912,947 (GRCm39) P9L probably damaging Het
Hmmr A G 11: 40,612,655 (GRCm39) probably null Het
Klra5 C A 6: 129,883,686 (GRCm39) W147L possibly damaging Het
Lmnb1 G A 18: 56,873,114 (GRCm39) probably null Het
Lrp2 T C 2: 69,288,832 (GRCm39) Y3678C probably damaging Het
Map7 T C 10: 20,153,981 (GRCm39) V699A unknown Het
Mme G T 3: 63,272,306 (GRCm39) G635V possibly damaging Het
Mroh8 A T 2: 157,071,948 (GRCm39) I519N possibly damaging Het
Mrps11 T C 7: 78,442,390 (GRCm39) S157P probably damaging Het
Muc16 T C 9: 18,572,061 (GRCm39) T153A unknown Het
Nlrp1b A G 11: 71,072,913 (GRCm39) V310A probably damaging Het
Oas1f T C 5: 120,993,592 (GRCm39) V268A probably damaging Het
Or56a3b T A 7: 104,770,817 (GRCm39) I51N Het
Or6y1 A T 1: 174,276,233 (GRCm39) T15S probably benign Het
Padi4 A G 4: 140,479,950 (GRCm39) L401P probably benign Het
Pdzd7 A G 19: 45,016,056 (GRCm39) *1022Q probably null Het
Plcl2 C A 17: 50,915,391 (GRCm39) T800K probably damaging Het
Polr1has TCACCACCACCACCACCACCACCAC TCACCACCACCACCACCACCAC 17: 37,275,939 (GRCm39) probably benign Het
Ppp1r37 A T 7: 19,295,796 (GRCm39) F54I probably damaging Het
Prl7c1 T A 13: 27,957,870 (GRCm39) Y190F probably benign Het
Prpf8 A G 11: 75,397,212 (GRCm39) E2015G possibly damaging Het
Rpap3 A G 15: 97,579,641 (GRCm39) V457A Het
Samd13 A T 3: 146,368,510 (GRCm39) D27E Het
Sephs1 A T 2: 4,889,174 (GRCm39) probably benign Het
Slc22a20 T G 19: 6,023,024 (GRCm39) Q373P probably damaging Het
Sp100 A G 1: 85,629,179 (GRCm39) *483W probably null Het
Src A T 2: 157,307,852 (GRCm39) T254S probably damaging Het
St6galnac2 A T 11: 116,569,344 (GRCm39) M301K possibly damaging Het
Tnfsf13 A T 11: 69,576,010 (GRCm39) W26R probably damaging Het
Trbv28 T A 6: 41,248,687 (GRCm39) D72E probably benign Het
Trim75 T A 8: 65,436,561 (GRCm39) probably benign Het
Ttc39d T C 17: 80,524,754 (GRCm39) F471S probably damaging Het
Vav1 C T 17: 57,613,191 (GRCm39) P621L probably benign Het
Vezt A T 10: 93,832,856 (GRCm39) L185* probably null Het
Vmn2r42 T C 7: 8,187,295 (GRCm39) I826V probably benign Het
Vmn2r67 G A 7: 84,800,697 (GRCm39) T413M probably benign Het
Vnn1 G A 10: 23,776,723 (GRCm39) C358Y probably damaging Het
Wdr83os G C 8: 85,808,638 (GRCm39) W106C probably damaging Het
Wdr95 T C 5: 149,475,917 (GRCm39) S72P probably damaging Het
Zfp423 T A 8: 88,508,251 (GRCm39) T698S probably damaging Het
Zfp521 G A 18: 13,977,293 (GRCm39) T1040I probably damaging Het
Zfp563 T A 17: 33,308,565 (GRCm39) V9E Het
Zmym2 T A 14: 57,180,770 (GRCm39) V894E 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
R0087:Agps UTSW 2 75,739,979 (GRCm39) missense probably damaging 1.00
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
R9555:Agps UTSW 2 75,683,091 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATAGGTTTGGCAACTGCGGG -3'
(R):5'- ACTCATTGGTACTCGGAGCCTC -3'

Sequencing Primer
(F):5'- GCTGGAACTCACCTGCTCTG -3'
(R):5'- TACTCGGAGCCTCCTGGG -3'
Posted On 2022-06-15