Incidental Mutation 'R8507:Agpat5'
ID 655634
Institutional Source Beutler Lab
Gene Symbol Agpat5
Ensembl Gene ENSMUSG00000031467
Gene Name 1-acylglycerol-3-phosphate O-acyltransferase 5
Synonyms 1110013A05Rik, D8Ertd319e
MMRRC Submission 067843-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.304) question?
Stock # R8507 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 18896295-18934429 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 18928043 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 203 (V203I)
Ref Sequence ENSEMBL: ENSMUSP00000117025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033847] [ENSMUST00000149565]
AlphaFold Q9D1E8
Predicted Effect possibly damaging
Transcript: ENSMUST00000033847
AA Change: V203I

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000033847
Gene: ENSMUSG00000031467
AA Change: V203I

DomainStartEndE-ValueType
Blast:PlsC 28 73 1e-15 BLAST
PlsC 87 212 6.14e-24 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000149565
AA Change: V203I

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000117025
Gene: ENSMUSG00000031467
AA Change: V203I

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: 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 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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam7 A G 14: 68,763,773 (GRCm39) C126R probably damaging Het
Ankrd12 T A 17: 66,293,904 (GRCm39) R510* probably null Het
Anxa6 C T 11: 54,904,696 (GRCm39) A22T probably benign Het
Barx2 A T 9: 31,770,309 (GRCm39) L73Q probably damaging Het
BC024139 T C 15: 76,004,333 (GRCm39) K702R possibly damaging Het
Cc2d1a T C 8: 84,861,605 (GRCm39) K739R probably benign Het
Cdk12 A G 11: 98,141,111 (GRCm39) T1451A unknown Het
Chd7 A G 4: 8,858,675 (GRCm39) E2367G probably damaging Het
Cp A G 3: 20,025,193 (GRCm39) Y384C probably damaging Het
Dnah14 T A 1: 181,468,979 (GRCm39) W1270R probably benign Het
Dyrk2 G T 10: 118,696,567 (GRCm39) S230R probably damaging Het
Epn3 A T 11: 94,384,602 (GRCm39) S290R probably damaging Het
Fas C T 19: 34,304,626 (GRCm39) R296C probably benign Het
Fmnl1 A T 11: 103,084,859 (GRCm39) N659I unknown Het
Gas8 T C 8: 124,257,777 (GRCm39) probably null Het
Gpr156 A G 16: 37,768,598 (GRCm39) T40A probably benign Het
Hey1 G C 3: 8,729,836 (GRCm39) A207G probably benign Het
Htr3b C A 9: 48,876,177 (GRCm39) probably benign Het
Itgal C T 7: 126,928,607 (GRCm39) T1044I probably benign Het
Itprid2 A G 2: 79,475,208 (GRCm39) Q389R probably benign Het
Kcnip4 T G 5: 48,639,997 (GRCm39) D38A possibly damaging Het
Kcnma1 G T 14: 23,641,706 (GRCm39) Q216K probably benign Het
Kdsr T A 1: 106,671,400 (GRCm39) E203V probably null Het
Lrp1b T C 2: 41,298,387 (GRCm39) E999G Het
Malt1 T A 18: 65,603,594 (GRCm39) W577R probably damaging Het
Mroh2b A C 15: 4,978,572 (GRCm39) T1373P probably damaging Het
Mymk A G 2: 26,952,712 (GRCm39) probably null Het
Myo1f T A 17: 33,816,992 (GRCm39) H707Q probably benign Het
Ncam2 C A 16: 81,309,867 (GRCm39) H452Q possibly damaging Het
Ndrg4 A G 8: 96,404,975 (GRCm39) M1V probably null Het
Nps C T 7: 134,874,079 (GRCm39) S83L probably damaging Het
Nup155 T A 15: 8,177,044 (GRCm39) Y1040* probably null Het
Or1j15 T C 2: 36,459,443 (GRCm39) Y278H probably damaging Het
Or2ak4 C T 11: 58,648,985 (GRCm39) Q165* probably null Het
Or4f7 T C 2: 111,645,051 (GRCm39) T7A probably benign Het
Or5h22 C T 16: 58,895,243 (GRCm39) V67M possibly damaging Het
Pak1ip1 G A 13: 41,162,770 (GRCm39) R191Q probably benign Het
Pcdh17 G A 14: 84,683,384 (GRCm39) probably benign Het
Pcdhgc5 G T 18: 37,952,945 (GRCm39) R73L probably benign Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Plxnd1 A T 6: 115,943,866 (GRCm39) N1144K probably damaging Het
Ppp1r1b G T 11: 98,246,310 (GRCm39) E133D probably damaging Het
Ptpn13 A G 5: 103,705,815 (GRCm39) E1396G probably damaging Het
Reps1 T C 10: 17,970,218 (GRCm39) S272P probably damaging Het
Ric8b T C 10: 84,816,039 (GRCm39) V430A probably damaging Het
Septin10 A T 10: 59,012,825 (GRCm39) N264K possibly damaging Het
Sgms1 A T 19: 32,137,109 (GRCm39) F152L probably benign Het
Snapc1 C A 12: 74,011,506 (GRCm39) F57L probably damaging Het
Spidr A G 16: 15,786,540 (GRCm39) L401P probably damaging Het
Spn C T 7: 126,735,728 (GRCm39) V260M probably damaging Het
Sptan1 G A 2: 29,916,596 (GRCm39) A2095T probably damaging Het
Tbc1d15 A G 10: 115,038,407 (GRCm39) probably null Het
Thsd7b T A 1: 129,605,790 (GRCm39) F510L probably benign Het
Trpm5 T A 7: 142,632,050 (GRCm39) I920F probably damaging Het
Tspear C A 10: 77,710,898 (GRCm39) H507N probably benign Het
Vmn2r108 T A 17: 20,683,195 (GRCm39) K670* probably null Het
Vmn2r75 A T 7: 85,797,685 (GRCm39) C709* probably null Het
Wdfy3 G T 5: 102,020,767 (GRCm39) S2494R probably benign Het
Zfp456 A T 13: 67,515,108 (GRCm39) F199L probably damaging Het
Zfp830 A G 11: 82,655,529 (GRCm39) Q111R probably benign Het
Znrf1 G A 8: 112,263,842 (GRCm39) A24T probably damaging 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
R1637:Agpat5 UTSW 8 18,931,827 (GRCm39) missense probably benign 0.21
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
R8710:Agpat5 UTSW 8 18,928,105 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- CCAGCTTCTCGCAGCATATC -3'
(R):5'- CTATTCAGCTTCTATGGAAATACGG -3'

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