Incidental Mutation 'R7441:Agpat1'
ID 576984
Institutional Source Beutler Lab
Gene Symbol Agpat1
Ensembl Gene ENSMUSG00000034254
Gene Name 1-acylglycerol-3-phosphate O-acyltransferase 1
Synonyms Lpaat-alpha, 1-AGP
MMRRC Submission 045517-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.829) question?
Stock # R7441 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 34823236-34832423 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34829883 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 77 (Y77N)
Ref Sequence ENSEMBL: ENSMUSP00000048573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015611] [ENSMUST00000037489] [ENSMUST00000097345] [ENSMUST00000114140] [ENSMUST00000168353] [ENSMUST00000173242] [ENSMUST00000173973] [ENSMUST00000174041] [ENSMUST00000174228] [ENSMUST00000174595]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000015611
SMART Domains Protein: ENSMUSP00000015611
Gene: ENSMUSG00000015467

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:EMI 36 102 4.3e-20 PFAM
EGF 113 142 5.49e-3 SMART
EGF_CA 144 184 2.58e-8 SMART
coiled coil region 206 228 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000037489
AA Change: Y77N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000048573
Gene: ENSMUSG00000034254
AA Change: Y77N

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
transmembrane domain 38 60 N/A INTRINSIC
low complexity region 66 71 N/A INTRINSIC
PlsC 95 210 4.64e-42 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000097345
SMART Domains Protein: ENSMUSP00000094958
Gene: ENSMUSG00000015467

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:EMI 34 104 3e-16 PFAM
EGF 113 142 5.49e-3 SMART
EGF_CA 144 184 2.58e-8 SMART
coiled coil region 206 228 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114140
AA Change: Y77N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000109776
Gene: ENSMUSG00000034254
AA Change: Y77N

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
transmembrane domain 38 60 N/A INTRINSIC
low complexity region 66 71 N/A INTRINSIC
PlsC 95 210 4.64e-42 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168353
SMART Domains Protein: ENSMUSP00000128433
Gene: ENSMUSG00000015467

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:EMI 34 104 7.4e-16 PFAM
EGF 113 142 5.49e-3 SMART
EGF_CA 144 184 2.58e-8 SMART
coiled coil region 206 228 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000173242
AA Change: Y77N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000134242
Gene: ENSMUSG00000034254
AA Change: Y77N

DomainStartEndE-ValueType
transmembrane domain 7 25 N/A INTRINSIC
transmembrane domain 35 57 N/A INTRINSIC
low complexity region 66 71 N/A INTRINSIC
Pfam:Acyltransferase 80 149 1.2e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000173973
AA Change: Y77N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133947
Gene: ENSMUSG00000034254
AA Change: Y77N

DomainStartEndE-ValueType
transmembrane domain 7 25 N/A INTRINSIC
transmembrane domain 35 57 N/A INTRINSIC
low complexity region 66 71 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000174041
AA Change: Y77N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000133441
Gene: ENSMUSG00000034254
AA Change: Y77N

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
transmembrane domain 38 60 N/A INTRINSIC
low complexity region 66 71 N/A INTRINSIC
PlsC 95 198 6.63e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174228
SMART Domains Protein: ENSMUSP00000133876
Gene: ENSMUSG00000034254

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
transmembrane domain 38 60 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000174595
AA Change: Y77N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000134358
Gene: ENSMUSG00000034254
AA Change: Y77N

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
transmembrane domain 38 60 N/A INTRINSIC
low complexity region 66 71 N/A INTRINSIC
PlsC 95 210 4.64e-42 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 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 an enzyme that converts lysophosphatidic acid (LPA) into phosphatidic acid (PA). LPA and PA are two phospholipids involved in signal transduction and in lipid biosynthesis in cells. This enzyme localizes to the endoplasmic reticulum. This gene is located in the class III region of the human major histocompatibility complex. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A C 2: 151,314,845 (GRCm39) S278A possibly damaging Het
Adamts20 T C 15: 94,251,554 (GRCm39) D411G probably damaging Het
Adgrl3 A G 5: 81,871,987 (GRCm39) I894V possibly damaging Het
Adprhl1 C T 8: 13,273,069 (GRCm39) V1230I probably benign Het
Anpep A G 7: 79,477,392 (GRCm39) V725A possibly damaging Het
Apc T A 18: 34,445,126 (GRCm39) I674K probably damaging Het
Arhgef2 A G 3: 88,551,262 (GRCm39) R808G probably damaging Het
Asap1 A G 15: 64,002,105 (GRCm39) V402A probably damaging Het
Aspg T C 12: 112,091,255 (GRCm39) V479A possibly damaging Het
B3galnt2 G A 13: 14,169,070 (GRCm39) V368M probably benign Het
Bahcc1 T C 11: 120,177,132 (GRCm39) S2007P probably damaging Het
Cyfip2 A T 11: 46,087,254 (GRCm39) I1212N possibly damaging Het
Dnajc16 A T 4: 141,491,124 (GRCm39) D675E probably damaging Het
Dram2 T C 3: 106,462,503 (GRCm39) F4L probably damaging Het
Dsp A G 13: 38,379,425 (GRCm39) T2057A probably benign Het
Dync1h1 T G 12: 110,602,887 (GRCm39) L2176R probably damaging Het
Efhb A T 17: 53,708,549 (GRCm39) I707N possibly damaging Het
Eif2ak4 A G 2: 118,302,377 (GRCm39) T1555A probably benign Het
Erc1 G A 6: 119,801,912 (GRCm39) T35I possibly damaging Het
Esr2 C A 12: 76,188,168 (GRCm39) M363I probably benign Het
Etl4 A T 2: 20,749,000 (GRCm39) N446I possibly damaging Het
Evpl T A 11: 116,113,782 (GRCm39) K1303* probably null Het
Fam135b A T 15: 71,335,529 (GRCm39) V555E probably damaging Het
Fam186b A G 15: 99,177,970 (GRCm39) L452P probably benign Het
Fmn1 A T 2: 113,271,956 (GRCm39) Q108L unknown Het
Gcc2 A G 10: 58,092,723 (GRCm39) T48A probably benign Het
Gm6619 T G 6: 131,467,354 (GRCm39) I73S possibly damaging Het
Gm8267 T A 14: 44,960,397 (GRCm39) D116V probably damaging Het
Gtf3c3 G A 1: 54,459,607 (GRCm39) T385M probably benign Het
Iqgap2 C A 13: 95,764,584 (GRCm39) M1553I probably benign Het
Kcnk1 G T 8: 126,722,307 (GRCm39) G37C probably damaging Het
Kifc3 T C 8: 95,864,615 (GRCm39) M32V probably benign Het
Krt81 C A 15: 101,359,251 (GRCm39) K222N possibly damaging Het
Lrrc63 A G 14: 75,363,697 (GRCm39) S145P possibly damaging Het
Mybbp1a T A 11: 72,342,101 (GRCm39) V1279E probably benign Het
Niban3 A G 8: 72,052,808 (GRCm39) D94G probably benign Het
Or11g26 A T 14: 50,752,853 (GRCm39) Y64F probably damaging Het
Or8u9 T A 2: 86,001,354 (GRCm39) D269V probably damaging Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Pramel12 A G 4: 143,145,410 (GRCm39) Y293C probably benign Het
Ptpn18 T C 1: 34,512,416 (GRCm39) V407A probably benign Het
Ptpn9 T A 9: 56,934,717 (GRCm39) Y160* probably null Het
Ptprj T C 2: 90,280,163 (GRCm39) K1045R possibly damaging Het
Rundc3a G T 11: 102,290,872 (GRCm39) probably null Het
Scn11a C T 9: 119,587,692 (GRCm39) V1351I probably benign Het
Slc26a9 A G 1: 131,690,556 (GRCm39) Y520C probably damaging Het
Spata20 G A 11: 94,374,867 (GRCm39) A245V probably benign Het
Steap3 A C 1: 120,169,248 (GRCm39) F350V probably benign Het
Swt1 A T 1: 151,286,815 (GRCm39) F226I probably benign Het
Taar7f A G 10: 23,925,885 (GRCm39) T160A possibly damaging Het
Timd5 G A 11: 46,419,382 (GRCm39) W66* probably null Het
Upf2 A T 2: 6,023,743 (GRCm39) I698F unknown Het
Vmn2r84 T C 10: 130,227,982 (GRCm39) T85A possibly damaging Het
Zfp426 T C 9: 20,382,147 (GRCm39) E280G possibly damaging Het
Zfp810 C A 9: 22,190,568 (GRCm39) E78* probably null Het
Zfp937 GTGATAAGGCATTTGCACAAAACAGTCATCTCCTAACACATAAAAGAACACAT G 2: 150,080,630 (GRCm39) probably null Het
Other mutations in Agpat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02228:Agpat1 APN 17 34,829,536 (GRCm39) missense possibly damaging 0.67
R0359:Agpat1 UTSW 17 34,829,551 (GRCm39) missense probably benign 0.27
R7439:Agpat1 UTSW 17 34,829,883 (GRCm39) missense probably damaging 1.00
R8113:Agpat1 UTSW 17 34,830,586 (GRCm39) missense probably damaging 0.98
R9229:Agpat1 UTSW 17 34,830,663 (GRCm39) missense probably null 0.79
Predicted Primers PCR Primer
(F):5'- ACAACGGCTGGATCCTCTTC -3'
(R):5'- GCCTGAGGACAGATGACATC -3'

Sequencing Primer
(F):5'- TCTTGACAGAGCCCAAGGG -3'
(R):5'- CCTGAGGACAGATGACATCCAAGAG -3'
Posted On 2019-10-07