Incidental Mutation 'PIT4445001:Agpat3'
ID 555416
Institutional Source Beutler Lab
Gene Symbol Agpat3
Ensembl Gene ENSMUSG00000001211
Gene Name 1-acylglycerol-3-phosphate O-acyltransferase 3
Synonyms D10Jhu12e, LPAAT3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # PIT4445001 (G1)
Quality Score 86.0076
Status Not validated
Chromosome 10
Chromosomal Location 78105012-78188323 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 78109927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 341 (F341I)
Ref Sequence ENSEMBL: ENSMUSP00000001240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001240] [ENSMUST00000105387] [ENSMUST00000105388] [ENSMUST00000105389] [ENSMUST00000105390] [ENSMUST00000166360]
AlphaFold Q9D517
Predicted Effect possibly damaging
Transcript: ENSMUST00000001240
AA Change: F341I

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000001240
Gene: ENSMUSG00000001211
AA Change: F341I

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
PlsC 90 212 3.14e-21 SMART
transmembrane domain 308 330 N/A INTRINSIC
transmembrane domain 335 357 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000105387
AA Change: F341I

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101026
Gene: ENSMUSG00000001211
AA Change: F341I

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
PlsC 90 212 3.14e-21 SMART
transmembrane domain 308 330 N/A INTRINSIC
transmembrane domain 335 357 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000105388
AA Change: F341I

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101027
Gene: ENSMUSG00000001211
AA Change: F341I

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
PlsC 90 212 3.14e-21 SMART
transmembrane domain 308 330 N/A INTRINSIC
transmembrane domain 335 357 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000105389
AA Change: F341I

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101028
Gene: ENSMUSG00000001211
AA Change: F341I

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
PlsC 90 212 3.14e-21 SMART
transmembrane domain 308 330 N/A INTRINSIC
transmembrane domain 335 357 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000105390
AA Change: F341I

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101029
Gene: ENSMUSG00000001211
AA Change: F341I

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
PlsC 90 212 3.14e-21 SMART
transmembrane domain 308 330 N/A INTRINSIC
transmembrane domain 335 357 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000166360
AA Change: F341I

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000132954
Gene: ENSMUSG00000001211
AA Change: F341I

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
PlsC 90 212 3.14e-21 SMART
Pfam:Acyltransf_C 241 314 2.1e-29 PFAM
transmembrane domain 335 357 N/A INTRINSIC
Coding Region Coverage
  • 1x: 93.5%
  • 3x: 90.8%
  • 10x: 84.5%
  • 20x: 70.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an acyltransferase that converts lysophosphatidic acid into phosphatidic acid, which is the second step in the de novo phospholipid biosynthetic pathway. The encoded protein may be an integral membrane protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility with oligozoospermia, teratozoospermia. [provided by MGI curators]
Allele List at MGI

All alleles(14) : Targeted(2) Gene trapped(12)

Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,966,377 (GRCm39) K419E probably damaging Het
Adam7 T A 14: 68,747,197 (GRCm39) K587N possibly damaging Het
Agl T C 3: 116,565,109 (GRCm39) M382V Het
Ampd2 A T 3: 107,982,328 (GRCm39) L767Q probably damaging Het
Arhgap28 A T 17: 68,203,230 (GRCm39) D124E possibly damaging Het
Arhgap32 T C 9: 32,172,152 (GRCm39) L1644P probably damaging Het
Asic4 T C 1: 75,427,771 (GRCm39) V99A probably benign Het
Asns T A 6: 7,689,277 (GRCm39) N75I probably damaging Het
Atp10a A G 7: 58,453,215 (GRCm39) D798G probably damaging Het
Atp8a1 A G 5: 67,780,003 (GRCm39) V1145A Het
Ccdc171 A G 4: 83,579,984 (GRCm39) Q577R probably damaging Het
Cd247 T A 1: 165,688,605 (GRCm39) D154E probably damaging Het
Ceacam1 A T 7: 25,175,881 (GRCm39) N104K probably damaging Het
Chfr A G 5: 110,299,543 (GRCm39) D312G possibly damaging Het
Ddb1 C A 19: 10,603,334 (GRCm39) L881I probably damaging Het
Dgkh A T 14: 78,813,382 (GRCm39) I1032N possibly damaging Het
Efcab6 A T 15: 83,788,468 (GRCm39) V942D probably benign Het
Fmo5 A G 3: 97,558,844 (GRCm39) T435A probably benign Het
Fpr1 T C 17: 18,097,155 (GRCm39) Q278R probably benign Het
Fzr1 C T 10: 81,205,228 (GRCm39) W256* probably null Het
Gabrb1 T C 5: 72,266,125 (GRCm39) S261P probably damaging Het
Galr2 G T 11: 116,172,474 (GRCm39) A55S probably benign Het
Gbp2 A T 3: 142,343,227 (GRCm39) K581N probably benign Het
Gria1 A T 11: 57,076,664 (GRCm39) Y89F probably damaging Het
Ibsp T A 5: 104,450,170 (GRCm39) I26N possibly damaging Het
Igf1r T C 7: 67,857,211 (GRCm39) F1058L probably damaging Het
Ighv1-16 A C 12: 114,629,680 (GRCm39) C36G probably benign Het
Igll1 T C 16: 16,678,783 (GRCm39) T176A probably benign Het
Ilkap T C 1: 91,313,067 (GRCm39) T143A probably benign Het
Kdm3b A T 18: 34,926,168 (GRCm39) K103* probably null Het
Mphosph9 A G 5: 124,436,853 (GRCm39) I497T possibly damaging Het
Mrgpra3 G A 7: 47,239,908 (GRCm39) T6I possibly damaging Het
Mrpl38 T C 11: 116,023,384 (GRCm39) probably null Het
Myo3a A T 2: 22,434,457 (GRCm39) E813V possibly damaging Het
Myo7b G T 18: 32,092,519 (GRCm39) Q2093K possibly damaging Het
Myo7b T C 18: 32,095,405 (GRCm39) K1851R probably damaging Het
P3h2 T A 16: 25,803,749 (GRCm39) D339V probably benign Het
Pcdhb6 C A 18: 37,468,300 (GRCm39) P407Q possibly damaging Het
Plch2 C A 4: 155,093,483 (GRCm39) R153L probably damaging Het
Plppr4 G A 3: 117,153,957 (GRCm39) probably benign Het
Ppp1r3a A G 6: 14,717,776 (GRCm39) F1046S probably damaging Het
Pramel41 T G 5: 94,596,366 (GRCm39) W468G probably benign Het
Prkacb A T 3: 146,461,446 (GRCm39) L107M probably benign Het
Ranbp17 A G 11: 33,431,020 (GRCm39) probably null Het
Rasl11b C A 5: 74,357,994 (GRCm39) P88Q probably damaging Het
Rcc2 A G 4: 140,448,460 (GRCm39) E503G possibly damaging Het
Rnf216 T A 5: 143,071,758 (GRCm39) K407N probably damaging Het
Rusf1 A G 7: 127,875,706 (GRCm39) V243A probably benign Het
Scrn3 G A 2: 73,148,673 (GRCm39) M81I possibly damaging Het
Scube2 T C 7: 109,408,387 (GRCm39) T687A probably benign Het
Serpinb10 T A 1: 107,463,728 (GRCm39) F3L probably benign Het
Sgcb C T 5: 73,797,155 (GRCm39) V202I probably damaging Het
Sgce A G 6: 4,689,654 (GRCm39) V429A possibly damaging Het
Sh3rf2 T C 18: 42,286,229 (GRCm39) V574A probably benign Het
Sncaip T C 18: 53,002,016 (GRCm39) L179S probably damaging Het
Sntg2 A T 12: 30,362,571 (GRCm39) D58E probably damaging Het
Taar3 T C 10: 23,825,586 (GRCm39) I44T possibly damaging Het
Tmem87b G A 2: 128,673,391 (GRCm39) V227I probably benign Het
Tnfsf9 T C 17: 57,412,517 (GRCm39) L29P possibly damaging Het
Tnip2 T C 5: 34,654,215 (GRCm39) H391R probably benign Het
Traf5 A G 1: 191,729,768 (GRCm39) Y125H Het
Ttc23 T G 7: 67,316,961 (GRCm39) I77M probably damaging Het
Ube2l3 T C 16: 16,978,036 (GRCm39) N43S probably benign Het
Vars2 A T 17: 35,977,103 (GRCm39) C142* probably null Het
Vmn2r15 A C 5: 109,435,008 (GRCm39) D565E probably damaging Het
Vmn2r56 C T 7: 12,449,153 (GRCm39) probably null Het
Vmn2r79 A T 7: 86,651,408 (GRCm39) D269V possibly damaging Het
Vmn2r85 A T 10: 130,261,572 (GRCm39) M255K probably benign Het
Wfdc6a T A 2: 164,421,746 (GRCm39) *137C probably null Het
Wipi2 T C 5: 142,652,639 (GRCm39) V417A probably benign Het
Xirp2 G T 2: 67,340,116 (GRCm39) V786L possibly damaging Het
Zdhhc13 G A 7: 48,445,697 (GRCm39) G26S probably benign Het
Zscan25 T A 5: 145,227,422 (GRCm39) V362D probably damaging Het
Other mutations in Agpat3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00557:Agpat3 APN 10 78,109,516 (GRCm39) utr 3 prime probably benign
IGL02621:Agpat3 APN 10 78,120,900 (GRCm39) missense probably damaging 1.00
IGL02725:Agpat3 APN 10 78,113,889 (GRCm39) missense probably benign 0.02
P0008:Agpat3 UTSW 10 78,123,710 (GRCm39) missense probably damaging 1.00
R0041:Agpat3 UTSW 10 78,123,881 (GRCm39) unclassified probably benign
R0126:Agpat3 UTSW 10 78,113,890 (GRCm39) missense probably null 0.59
R0226:Agpat3 UTSW 10 78,113,863 (GRCm39) missense possibly damaging 0.89
R1520:Agpat3 UTSW 10 78,123,857 (GRCm39) start codon destroyed probably null 1.00
R2118:Agpat3 UTSW 10 78,113,918 (GRCm39) missense probably damaging 1.00
R5493:Agpat3 UTSW 10 78,120,069 (GRCm39) missense possibly damaging 0.89
R5599:Agpat3 UTSW 10 78,110,103 (GRCm39) missense probably benign 0.39
R6280:Agpat3 UTSW 10 78,120,872 (GRCm39) missense probably damaging 1.00
R7528:Agpat3 UTSW 10 78,123,746 (GRCm39) missense probably damaging 1.00
R7895:Agpat3 UTSW 10 78,119,034 (GRCm39) missense probably benign 0.34
R8351:Agpat3 UTSW 10 78,110,086 (GRCm39) missense probably damaging 1.00
R8425:Agpat3 UTSW 10 78,118,211 (GRCm39) missense possibly damaging 0.89
R8949:Agpat3 UTSW 10 78,118,989 (GRCm39) missense probably benign 0.00
R9136:Agpat3 UTSW 10 78,120,893 (GRCm39) missense probably damaging 1.00
X0003:Agpat3 UTSW 10 78,110,007 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GGTCACTCTAGTACAGGAAGCC -3'
(R):5'- AGGATGCCCTGCAAGAGATG -3'

Sequencing Primer
(F):5'- AGGGTACAGTCCTCCACAG -3'
(R):5'- TGTACAAGCAGAAGGGTGTATTCC -3'
Posted On 2019-06-07