Incidental Mutation 'R1637:Agpat5'
ID 173247
Institutional Source Beutler Lab
Gene Symbol Agpat5
Ensembl Gene ENSMUSG00000031467
Gene Name 1-acylglycerol-3-phosphate O-acyltransferase 5
Synonyms 1110013A05Rik, D8Ertd319e
MMRRC Submission 039673-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.304) question?
Stock # R1637 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 18896295-18934429 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18931827 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 316 (R316G)
Ref Sequence ENSEMBL: ENSMUSP00000117025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033847] [ENSMUST00000149565]
AlphaFold Q9D1E8
Predicted Effect probably benign
Transcript: ENSMUST00000033847
SMART Domains Protein: ENSMUSP00000033847
Gene: ENSMUSG00000031467

DomainStartEndE-ValueType
Blast:PlsC 28 73 1e-15 BLAST
PlsC 87 212 6.14e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000149565
AA Change: R316G

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000117025
Gene: ENSMUSG00000031467
AA Change: R316G

DomainStartEndE-ValueType
Blast:PlsC 28 73 4e-15 BLAST
PlsC 87 212 6.14e-24 SMART
Pfam:Acyltransf_C 249 329 6.4e-17 PFAM
transmembrane domain 346 363 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. This integral membrane protein converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. A pseudogene of this gene is present on the Y chromosome. [provided by RefSeq, Aug 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene display moderate fatty changes in the liver. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik T A 5: 109,886,858 (GRCm39) H50L probably benign Het
A2m C A 6: 121,631,571 (GRCm39) L623M probably benign Het
Ankrd39 G A 1: 36,578,573 (GRCm39) Q151* probably null Het
Arl13b T C 16: 62,651,147 (GRCm39) D30G probably damaging Het
Atpaf1 A G 4: 115,645,499 (GRCm39) S123G probably benign Het
Bicra A G 7: 15,706,614 (GRCm39) S1276P probably benign Het
Car1 T C 3: 14,842,846 (GRCm39) I60V possibly damaging Het
Cnbd2 A G 2: 156,215,644 (GRCm39) I411V probably damaging Het
Cyp2c37 A T 19: 39,990,426 (GRCm39) K375* probably null Het
Cysrt1 T C 2: 25,129,297 (GRCm39) I72V probably benign Het
Dock9 T A 14: 121,889,187 (GRCm39) D312V possibly damaging Het
Ecd T C 14: 20,396,760 (GRCm39) I42V probably damaging Het
Ercc5 A G 1: 44,206,694 (GRCm39) T536A probably benign Het
Gjd2 A T 2: 113,841,789 (GRCm39) Y229* probably null Het
Gramd1b A T 9: 40,215,834 (GRCm39) probably null Het
Hcrtr2 T C 9: 76,140,281 (GRCm39) T336A probably benign Het
Hjurp G A 1: 88,193,843 (GRCm39) S279F probably benign Het
Ift140 C T 17: 25,244,608 (GRCm39) L152F probably benign Het
Izumo1r A G 9: 14,813,105 (GRCm39) C56R probably damaging Het
Kif7 T C 7: 79,352,585 (GRCm39) E850G probably damaging Het
Larp4b C G 13: 9,201,133 (GRCm39) T335S probably benign Het
Lmo7 A T 14: 102,118,268 (GRCm39) R42S probably damaging Het
Lrrk2 T G 15: 91,618,261 (GRCm39) L920R probably benign Het
Mapk8 G A 14: 33,132,919 (GRCm39) R6C probably benign Het
Mpped1 C T 15: 83,676,191 (GRCm39) probably benign Het
Myoc A G 1: 162,466,936 (GRCm39) Y35C probably damaging Het
Ndufb8 C T 19: 44,543,474 (GRCm39) M66I probably benign Het
Nkpd1 T C 7: 19,257,904 (GRCm39) I411T probably benign Het
Nrxn3 A G 12: 89,321,238 (GRCm39) N382S possibly damaging Het
Or2t47 A T 11: 58,442,246 (GRCm39) V273E possibly damaging Het
Or4c114 A T 2: 88,905,396 (GRCm39) L13Q probably damaging Het
Pear1 T C 3: 87,664,060 (GRCm39) E303G probably damaging Het
Plekhg4 T A 8: 106,108,413 (GRCm39) M1047K probably benign Het
Pofut1 T G 2: 153,107,709 (GRCm39) F268C probably damaging Het
Psrc1 G T 3: 108,292,609 (GRCm39) S134I probably damaging Het
Slc6a2 A T 8: 93,708,618 (GRCm39) I245F probably benign Het
Slc9a1 T C 4: 133,149,534 (GRCm39) S787P probably benign Het
Sorcs3 T A 19: 48,736,798 (GRCm39) probably null Het
Syne2 C A 12: 76,042,776 (GRCm39) H3916N probably damaging Het
Taar6 A G 10: 23,861,079 (GRCm39) S156P probably benign Het
Tnn A G 1: 159,975,170 (GRCm39) F86L probably damaging Het
Tspear T A 10: 77,706,253 (GRCm39) L341H possibly damaging Het
Ttll8 A G 15: 88,798,647 (GRCm39) V696A probably benign Het
Utrn C A 10: 12,312,108 (GRCm39) D616Y probably damaging Het
Vmn2r18 A T 5: 151,508,222 (GRCm39) C301S probably damaging Het
Xdh T C 17: 74,207,573 (GRCm39) Y928C probably benign Het
Zfand1 G A 3: 10,411,042 (GRCm39) A104V probably benign Het
Other mutations in Agpat5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Agpat5 APN 8 18,926,148 (GRCm39) critical splice donor site probably null
IGL02529:Agpat5 APN 8 18,931,770 (GRCm39) missense possibly damaging 0.87
PIT4515001:Agpat5 UTSW 8 18,896,657 (GRCm39) missense probably damaging 0.98
R1491:Agpat5 UTSW 8 18,896,739 (GRCm39) missense probably damaging 1.00
R1672:Agpat5 UTSW 8 18,920,930 (GRCm39) missense probably benign 0.01
R1913:Agpat5 UTSW 8 18,929,629 (GRCm39) missense probably benign 0.44
R1938:Agpat5 UTSW 8 18,928,181 (GRCm39) missense probably benign 0.00
R1962:Agpat5 UTSW 8 18,928,026 (GRCm39) missense probably damaging 1.00
R3830:Agpat5 UTSW 8 18,929,621 (GRCm39) missense probably benign 0.21
R4649:Agpat5 UTSW 8 18,929,668 (GRCm39) missense possibly damaging 0.74
R4953:Agpat5 UTSW 8 18,918,971 (GRCm39) missense probably benign 0.41
R5268:Agpat5 UTSW 8 18,931,878 (GRCm39) missense possibly damaging 0.82
R6351:Agpat5 UTSW 8 18,896,724 (GRCm39) missense probably benign 0.02
R8432:Agpat5 UTSW 8 18,896,777 (GRCm39) missense probably benign 0.16
R8507:Agpat5 UTSW 8 18,928,043 (GRCm39) missense possibly damaging 0.87
R8710:Agpat5 UTSW 8 18,928,105 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- TACTGTAAGGCGTGAATGCCCTCC -3'
(R):5'- AGCCATCAATAAGAGACTGTGACTGC -3'

Sequencing Primer
(F):5'- CTAAGGAGCTGTACTTGCTCAG -3'
(R):5'- GCAGCCTGCTACTTGCTTATG -3'
Posted On 2014-04-24