Incidental Mutation 'R8416:Agps'
ID 652929
Institutional Source Beutler Lab
Gene Symbol Agps
Ensembl Gene ENSMUSG00000042410
Gene Name alkylglycerone phosphate synthase
Synonyms 9930035G10Rik, bs2, ADAPS
MMRRC Submission 067770-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8416 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 75662521-75761694 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75684547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 172 (I172V)
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 benign
Transcript: ENSMUST00000047232
AA Change: I172V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041967
Gene: ENSMUSG00000042410
AA Change: I172V

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 benign
Transcript: ENSMUST00000111952
AA Change: I172V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107583
Gene: ENSMUSG00000042410
AA Change: I172V

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
AA Change: I69V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135457
Gene: ENSMUSG00000042410
AA Change: I69V

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 A G 16: 20,369,023 (GRCm39) N173S probably benign Het
Amz1 G A 5: 140,737,731 (GRCm39) W330* probably null Het
Asap1 A T 15: 64,002,072 (GRCm39) M413K possibly damaging Het
Bhmt1b T C 18: 87,774,687 (GRCm39) V70A probably damaging Het
Ccdc83 A T 7: 89,885,513 (GRCm39) W291R unknown Het
Cdh19 A T 1: 110,853,610 (GRCm39) M277K probably benign Het
Clca3a1 C A 3: 144,460,914 (GRCm39) probably null Het
Cnpy1 T C 5: 28,408,423 (GRCm39) T138A probably benign Het
Csnka2ip T C 16: 64,300,295 (GRCm39) D23G Het
Cxcr5 A T 9: 44,425,583 (GRCm39) F25I probably benign Het
Defb33 T A 8: 21,387,651 (GRCm39) *63R probably null Het
Dgkz A T 2: 91,770,649 (GRCm39) S485T possibly damaging Het
Elac1 A G 18: 73,871,927 (GRCm39) I356T probably damaging Het
Fam135a C T 1: 24,067,675 (GRCm39) D1065N probably benign Het
Fbxo10 T A 4: 45,058,942 (GRCm39) D265V possibly damaging Het
Flrt2 A G 12: 95,746,331 (GRCm39) E223G probably benign Het
Gjc2 A T 11: 59,068,334 (GRCm39) D49E probably damaging Het
Hmcn2 C A 2: 31,281,088 (GRCm39) L1867I probably benign Het
Irf2 A T 8: 47,271,887 (GRCm39) Y158F probably benign Het
Jmy T C 13: 93,634,949 (GRCm39) D289G probably damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Limch1 T G 5: 67,156,649 (GRCm39) I372S probably benign Het
Lsm11 A T 11: 45,824,730 (GRCm39) W266R probably benign Het
Mboat2 G A 12: 24,984,609 (GRCm39) E147K probably damaging Het
Mctp2 T C 7: 71,852,210 (GRCm39) I439V probably benign Het
Npc2 A G 12: 84,812,131 (GRCm39) V37A probably damaging Het
Or2t29 A T 11: 58,433,778 (GRCm39) S188T possibly damaging Het
Or5b119 A T 19: 13,456,764 (GRCm39) M266K possibly damaging Het
Parp4 T C 14: 56,825,271 (GRCm39) probably null Het
Pcdhga2 A T 18: 37,803,178 (GRCm39) N341Y probably damaging Het
Pde1b G A 15: 103,423,745 (GRCm39) probably benign Het
Pde1c C T 6: 56,128,276 (GRCm39) probably null Het
Plce1 G A 19: 38,761,441 (GRCm39) V2098I possibly damaging Het
Pou2f2 G T 7: 24,815,551 (GRCm39) S72* probably null Het
Ptpru C T 4: 131,535,783 (GRCm39) R398H probably damaging Het
Rps15 A G 10: 80,128,624 (GRCm39) K7E probably benign Het
Rtn4rl2 C T 2: 84,702,951 (GRCm39) G207D probably damaging Het
Scn2a A C 2: 65,511,345 (GRCm39) L130F probably benign Het
Sh3tc1 G A 5: 35,868,256 (GRCm39) R403W probably damaging Het
Slc7a9 A G 7: 35,152,858 (GRCm39) K92R probably benign Het
Slit3 A T 11: 35,399,062 (GRCm39) E142D probably benign Het
Srpk1 A G 17: 28,813,229 (GRCm39) I505T probably damaging Het
Sult1c2 A T 17: 54,269,580 (GRCm39) I216K probably benign Het
Susd6 T A 12: 80,897,997 (GRCm39) M44K probably benign Het
Thoc5 T A 11: 4,876,068 (GRCm39) V607E probably benign Het
Tiparp A G 3: 65,438,767 (GRCm39) R28G probably benign Het
Tln1 C T 4: 43,540,116 (GRCm39) V1498I probably benign Het
Tmprss11c T G 5: 86,387,276 (GRCm39) Q214P probably damaging Het
Uck1 C A 2: 32,150,153 (GRCm39) probably benign Het
Wdr11 G A 7: 129,232,403 (GRCm39) S937N possibly damaging Het
Zdhhc23 A T 16: 43,791,927 (GRCm39) I282K probably damaging Het
Zfp488 A G 14: 33,693,052 (GRCm39) M37T probably benign Het
Zmpste24 T C 4: 120,940,556 (GRCm39) S142G probably benign 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
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'- GTACTTTGCTACTGTTACCAAGTTG -3'
(R):5'- GCAACACTAGCATGAGCAGC -3'

Sequencing Primer
(F):5'- GCTACTGTTACCAAGTTGGACTCTAG -3'
(R):5'- TAGCATGAGCAGCCCCAAGG -3'
Posted On 2020-10-20