Incidental Mutation 'R5091:Agpat4'
ID 387777
Institutional Source Beutler Lab
Gene Symbol Agpat4
Ensembl Gene ENSMUSG00000023827
Gene Name 1-acylglycerol-3-phosphate O-acyltransferase 4
Synonyms 1500003P24Rik
MMRRC Submission 042680-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5091 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 12337591-12438532 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12417699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 80 (K80R)
Ref Sequence ENSEMBL: ENSMUSP00000127477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024594] [ENSMUST00000164143] [ENSMUST00000167792] [ENSMUST00000170858]
AlphaFold Q8K4X7
Predicted Effect probably benign
Transcript: ENSMUST00000024594
AA Change: K80R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000024594
Gene: ENSMUSG00000023827
AA Change: K80R

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
PlsC 90 212 6.58e-24 SMART
Pfam:Acyltransf_C 241 314 8.8e-29 PFAM
transmembrane domain 335 357 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164143
AA Change: K80R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128085
Gene: ENSMUSG00000023827
AA Change: K80R

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
PlsC 90 192 1.87e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167792
AA Change: K80R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127477
Gene: ENSMUSG00000023827
AA Change: K80R

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
PlsC 90 166 1.14e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170858
SMART Domains Protein: ENSMUSP00000127417
Gene: ENSMUSG00000023827

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 96% (67/70)
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. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit changes in brain phospholipid content. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik A G 13: 54,701,057 (GRCm39) S174P probably damaging Het
4931414P19Rik T C 14: 54,823,168 (GRCm39) E343G probably damaging Het
Abca14 T C 7: 119,851,497 (GRCm39) V825A probably damaging Het
Abca8b G T 11: 109,827,210 (GRCm39) T1466K possibly damaging Het
Adcy8 A G 15: 64,678,553 (GRCm39) S467P probably damaging Het
Agbl4 T C 4: 110,976,237 (GRCm39) V198A possibly damaging Het
Akap8 T C 17: 32,535,208 (GRCm39) T269A probably benign Het
Ankhd1 A T 18: 36,758,080 (GRCm39) I925F possibly damaging Het
Aste1 A G 9: 105,282,203 (GRCm39) Y57C probably damaging Het
Axdnd1 A G 1: 156,247,980 (GRCm39) S7P possibly damaging Het
BC051019 T A 7: 109,319,789 (GRCm39) R91S probably null Het
Cavin2 C A 1: 51,340,398 (GRCm39) N358K probably benign Het
Cd2 T C 3: 101,190,355 (GRCm39) N196S probably benign Het
Clca3a1 C T 3: 144,436,483 (GRCm39) V867I probably benign Het
Col6a4 T A 9: 105,952,262 (GRCm39) K545N probably damaging Het
Cps1 T A 1: 67,268,679 (GRCm39) probably null Het
Cyp2c65 A T 19: 39,076,009 (GRCm39) probably null Het
Dcaf6 T C 1: 165,157,572 (GRCm39) D856G possibly damaging Het
Epcam T C 17: 87,949,580 (GRCm39) I181T probably damaging Het
Esrp2 A G 8: 106,859,061 (GRCm39) S562P probably damaging Het
Fcgbpl1 A C 7: 27,856,383 (GRCm39) I2057L probably benign Het
Ffar4 A G 19: 38,085,627 (GRCm39) D18G probably benign Het
Gen1 C T 12: 11,296,347 (GRCm39) V337I probably damaging Het
Gimap8 C T 6: 48,633,581 (GRCm39) P467S possibly damaging Het
Gnl3 T A 14: 30,738,803 (GRCm39) H82L possibly damaging Het
Grid2 T C 6: 64,053,862 (GRCm39) S354P probably benign Het
Ighmbp2 T A 19: 3,315,084 (GRCm39) T779S possibly damaging Het
Ints15 C T 5: 143,293,443 (GRCm39) E345K possibly damaging Het
Kif19a C A 11: 114,673,923 (GRCm39) T348N probably damaging Het
Lrrc15 T A 16: 30,092,172 (GRCm39) N389I probably damaging Het
Mrps26 A G 2: 130,405,886 (GRCm39) Y63C probably damaging Het
Myd88 C A 9: 119,166,889 (GRCm39) V223F possibly damaging Het
Nox4 T A 7: 87,025,450 (GRCm39) W526R probably damaging Het
Nrg2 A T 18: 36,185,838 (GRCm39) N300K probably damaging Het
Nsmf T C 2: 24,950,464 (GRCm39) probably benign Het
Patl2 A C 2: 121,954,283 (GRCm39) H429Q probably benign Het
Pcdhb12 A T 18: 37,568,907 (GRCm39) K18* probably null Het
Peg10 T A 6: 4,754,511 (GRCm39) D97E probably benign Het
Runx1t1 C T 4: 13,846,830 (GRCm39) Q205* probably null Het
Selenon T C 4: 134,275,284 (GRCm39) K138R probably damaging Het
Slc13a3 T C 2: 165,262,000 (GRCm39) E369G probably benign Het
Sorcs1 A G 19: 50,248,190 (GRCm39) probably null Het
Sptbn4 A T 7: 27,068,816 (GRCm39) M499K probably damaging Het
Sra1 A T 18: 36,803,012 (GRCm39) probably benign Het
Stra6 T C 9: 58,048,429 (GRCm39) L174P probably damaging Het
Syngr1 T C 15: 80,000,086 (GRCm39) Y66H probably damaging Het
Synpo G T 18: 60,735,831 (GRCm39) S466* probably null Het
Tenm3 T A 8: 48,795,343 (GRCm39) M595L probably benign Het
Tnks T C 8: 35,308,963 (GRCm39) T1099A probably benign Het
Tram1l1 G T 3: 124,115,400 (GRCm39) V187F possibly damaging Het
Trappc11 T C 8: 47,965,639 (GRCm39) E529G probably benign Het
Usp17la T C 7: 104,510,139 (GRCm39) V248A probably damaging Het
Virma T C 4: 11,519,392 (GRCm39) Y880H probably benign Het
Vmn1r214 C T 13: 23,219,571 (GRCm39) T355I possibly damaging Het
Vmn2r7 T C 3: 64,598,205 (GRCm39) K784R possibly damaging Het
Wrap53 C T 11: 69,453,273 (GRCm39) W389* probably null Het
Zfp748 A G 13: 67,689,638 (GRCm39) S541P probably damaging Het
Other mutations in Agpat4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0930:Agpat4 UTSW 17 12,417,723 (GRCm39) missense probably damaging 1.00
R1217:Agpat4 UTSW 17 12,429,203 (GRCm39) missense probably damaging 1.00
R1732:Agpat4 UTSW 17 12,435,615 (GRCm39) missense probably benign 0.00
R2081:Agpat4 UTSW 17 12,370,771 (GRCm39) missense possibly damaging 0.58
R4610:Agpat4 UTSW 17 12,429,264 (GRCm39) splice site probably null
R4766:Agpat4 UTSW 17 12,370,637 (GRCm39) unclassified probably benign
R5817:Agpat4 UTSW 17 12,434,097 (GRCm39) intron probably benign
R7315:Agpat4 UTSW 17 12,429,185 (GRCm39) missense probably damaging 1.00
R7762:Agpat4 UTSW 17 12,429,209 (GRCm39) missense possibly damaging 0.63
R9175:Agpat4 UTSW 17 12,417,669 (GRCm39) missense probably damaging 0.96
R9242:Agpat4 UTSW 17 12,429,186 (GRCm39) missense probably damaging 0.99
R9347:Agpat4 UTSW 17 12,429,168 (GRCm39) missense possibly damaging 0.95
R9367:Agpat4 UTSW 17 12,435,597 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TGGGGTCTGGGCTGAAATAC -3'
(R):5'- TTCTGAGAGACTGAGAGCAAAC -3'

Sequencing Primer
(F):5'- TCTGGGCTGAAATACTCTGC -3'
(R):5'- GCAGGTTGCACGGCAGAC -3'
Posted On 2016-06-06