Incidental Mutation 'R5621:Gpam'
ID 441595
Institutional Source Beutler Lab
Gene Symbol Gpam
Ensembl Gene ENSMUSG00000024978
Gene Name glycerol-3-phosphate acyltransferase, mitochondrial
Synonyms GPAT1
MMRRC Submission 043279-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.260) question?
Stock # R5621 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 55056067-55115666 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 55067692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 484 (S484A)
Ref Sequence ENSEMBL: ENSMUSP00000057635 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061856]
AlphaFold Q61586
Predicted Effect probably damaging
Transcript: ENSMUST00000061856
AA Change: S484A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000057635
Gene: ENSMUSG00000024978
AA Change: S484A

DomainStartEndE-ValueType
Blast:PlsC 5 34 3e-8 BLAST
PlsC 224 357 2.46e-23 SMART
Blast:PlsC 499 551 8e-27 BLAST
low complexity region 687 699 N/A INTRINSIC
Meta Mutation Damage Score 0.5546 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (63/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathway's first step is catalyzed by the encoded enzyme. Two forms for this enzyme exist, one in the mitochondria and one in the endoplasmic reticulum. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous mutant mice weighed less than controls and showed reduced triacylglycerol levels in the liver and plasma. The glycerolipid fatty acid composition is also disrupted in mutant mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 T G 17: 85,003,421 (GRCm39) L417R probably damaging Het
Adrm1b G A 3: 92,335,664 (GRCm39) A346V probably damaging Het
Als2 A G 1: 59,231,049 (GRCm39) V854A probably benign Het
Bbox1 C T 2: 110,122,868 (GRCm39) W140* probably null Het
Ccdc28a A T 10: 18,092,016 (GRCm39) N110K probably benign Het
Chrna6 C T 8: 27,897,068 (GRCm39) E270K probably damaging Het
Cilp A G 9: 65,186,073 (GRCm39) K723E possibly damaging Het
Ciz1 C A 2: 32,261,753 (GRCm39) A455E probably damaging Het
Csmd3 T G 15: 48,177,374 (GRCm39) H388P possibly damaging Het
Dnajc8 A G 4: 132,280,563 (GRCm39) probably benign Het
Dnase1 G T 16: 3,856,982 (GRCm39) C164F probably benign Het
Dync2h1 A T 9: 7,120,909 (GRCm39) I2126K possibly damaging Het
Epha4 G T 1: 77,491,686 (GRCm39) probably benign Het
Fer1l6 T C 15: 58,430,175 (GRCm39) C201R probably damaging Het
Fgf8 T C 19: 45,730,821 (GRCm39) Y68C probably benign Het
Gabrb1 A T 5: 72,266,071 (GRCm39) I243F probably damaging Het
Hectd2 T A 19: 36,596,151 (GRCm39) N745K probably damaging Het
Hspa13 T C 16: 75,563,651 (GRCm39) probably benign Het
Ints2 A G 11: 86,133,773 (GRCm39) F426L probably benign Het
Ism1 A G 2: 139,520,641 (GRCm39) T18A probably damaging Het
Itih2 T A 2: 10,107,616 (GRCm39) Q650L probably benign Het
Jmjd4 T C 11: 59,341,219 (GRCm39) F50S probably damaging Het
Kif5b T C 18: 6,226,883 (GRCm39) N125S probably benign Het
Lonp1 G C 17: 56,927,263 (GRCm39) A330G probably benign Het
Lrfn1 A G 7: 28,166,261 (GRCm39) I552V probably damaging Het
Mcph1 A G 8: 18,682,186 (GRCm39) E441G probably damaging Het
Mdn1 T A 4: 32,716,371 (GRCm39) H2144Q possibly damaging Het
Mms19 A G 19: 41,954,752 (GRCm39) S56P probably benign Het
Mrgprb3 A G 7: 48,293,116 (GRCm39) I145T probably benign Het
Myh11 G A 16: 14,062,719 (GRCm39) T287I probably damaging Het
Npas2 A G 1: 39,398,794 (GRCm39) T730A probably benign Het
Or4c108 T C 2: 88,803,810 (GRCm39) I142V probably benign Het
Or4c15b G A 2: 89,112,697 (GRCm39) P281L probably damaging Het
Pcdhgb1 A G 18: 37,815,222 (GRCm39) E571G possibly damaging Het
Pcx T A 19: 4,669,195 (GRCm39) V731E possibly damaging Het
Pgm2 T A 5: 64,269,381 (GRCm39) Y489* probably null Het
Rrp12 T C 19: 41,868,856 (GRCm39) T541A probably benign Het
Ryr3 C T 2: 112,731,329 (GRCm39) W660* probably null Het
Sertad2 T A 11: 20,598,061 (GRCm39) F86I possibly damaging Het
Slc11a1 G A 1: 74,420,065 (GRCm39) G191D probably damaging Het
Slc22a22 G T 15: 57,122,547 (GRCm39) F143L probably benign Het
Slc22a28 C T 19: 8,048,376 (GRCm39) V424I probably benign Het
Slc7a11 T G 3: 50,393,324 (GRCm39) K106N probably damaging Het
Smgc A T 15: 91,728,623 (GRCm39) D121V probably damaging Het
Sphk1 C T 11: 116,427,192 (GRCm39) probably benign Het
Spock3 A T 8: 63,597,040 (GRCm39) T118S probably benign Het
Stk17b G T 1: 53,810,943 (GRCm39) S54* probably null Het
Sycp2 A G 2: 178,023,711 (GRCm39) I435T probably benign Het
Tm2d3 G T 7: 65,351,366 (GRCm39) D207Y probably damaging Het
Top2b A T 14: 16,387,280 (GRCm38) N123Y probably damaging Het
Unc80 A G 1: 66,677,202 (GRCm39) T2044A possibly damaging Het
Usp6nl A G 2: 6,445,243 (GRCm39) S407G probably benign Het
Vmn1r195 G A 13: 22,462,559 (GRCm39) V10I probably benign Het
Zfp292 C T 4: 34,811,703 (GRCm39) R447H probably damaging Het
Other mutations in Gpam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01310:Gpam APN 19 55,066,764 (GRCm39) missense possibly damaging 0.71
IGL01349:Gpam APN 19 55,084,551 (GRCm39) critical splice donor site probably null
IGL01515:Gpam APN 19 55,075,883 (GRCm39) missense probably damaging 1.00
IGL01650:Gpam APN 19 55,070,132 (GRCm39) missense probably benign 0.02
IGL01768:Gpam APN 19 55,075,952 (GRCm39) missense probably benign 0.00
IGL01809:Gpam APN 19 55,064,057 (GRCm39) nonsense probably null
IGL01878:Gpam APN 19 55,071,806 (GRCm39) missense probably benign 0.22
IGL02451:Gpam APN 19 55,076,635 (GRCm39) missense probably damaging 1.00
IGL03293:Gpam APN 19 55,059,448 (GRCm39) missense probably benign
IGL03391:Gpam APN 19 55,070,128 (GRCm39) missense probably damaging 1.00
R0492:Gpam UTSW 19 55,084,611 (GRCm39) missense possibly damaging 0.72
R0703:Gpam UTSW 19 55,061,188 (GRCm39) missense probably benign 0.00
R1083:Gpam UTSW 19 55,076,643 (GRCm39) splice site probably benign
R1432:Gpam UTSW 19 55,067,693 (GRCm39) missense probably damaging 0.99
R1457:Gpam UTSW 19 55,076,608 (GRCm39) missense probably damaging 1.00
R1556:Gpam UTSW 19 55,064,763 (GRCm39) missense possibly damaging 0.94
R1733:Gpam UTSW 19 55,069,901 (GRCm39) missense probably damaging 0.99
R1744:Gpam UTSW 19 55,063,023 (GRCm39) missense probably damaging 1.00
R1776:Gpam UTSW 19 55,067,007 (GRCm39) missense possibly damaging 0.88
R2267:Gpam UTSW 19 55,061,142 (GRCm39) critical splice donor site probably null
R2697:Gpam UTSW 19 55,071,641 (GRCm39) missense probably damaging 1.00
R3836:Gpam UTSW 19 55,068,890 (GRCm39) missense probably benign
R3837:Gpam UTSW 19 55,068,890 (GRCm39) missense probably benign
R3838:Gpam UTSW 19 55,068,890 (GRCm39) missense probably benign
R3839:Gpam UTSW 19 55,068,890 (GRCm39) missense probably benign
R4670:Gpam UTSW 19 55,084,551 (GRCm39) critical splice donor site probably null
R4717:Gpam UTSW 19 55,064,046 (GRCm39) missense probably benign 0.00
R4819:Gpam UTSW 19 55,066,773 (GRCm39) missense probably benign 0.03
R5104:Gpam UTSW 19 55,082,418 (GRCm39) missense probably benign 0.44
R5146:Gpam UTSW 19 55,082,378 (GRCm39) missense probably damaging 1.00
R5183:Gpam UTSW 19 55,071,659 (GRCm39) missense probably damaging 1.00
R5326:Gpam UTSW 19 55,079,597 (GRCm39) missense probably benign 0.05
R5347:Gpam UTSW 19 55,077,269 (GRCm39) missense probably damaging 1.00
R5644:Gpam UTSW 19 55,077,331 (GRCm39) missense probably benign 0.00
R6244:Gpam UTSW 19 55,059,417 (GRCm39) missense probably damaging 1.00
R6260:Gpam UTSW 19 55,071,838 (GRCm39) missense probably benign 0.40
R6965:Gpam UTSW 19 55,063,041 (GRCm39) missense probably damaging 1.00
R7125:Gpam UTSW 19 55,064,767 (GRCm39) missense probably benign
R7567:Gpam UTSW 19 55,070,062 (GRCm39) missense possibly damaging 0.86
R7715:Gpam UTSW 19 55,077,353 (GRCm39) missense probably benign 0.19
R7719:Gpam UTSW 19 55,070,102 (GRCm39) missense probably damaging 1.00
R7863:Gpam UTSW 19 55,059,388 (GRCm39) missense probably damaging 1.00
R8187:Gpam UTSW 19 55,066,269 (GRCm39) missense probably benign
R8434:Gpam UTSW 19 55,070,063 (GRCm39) missense possibly damaging 0.93
R8483:Gpam UTSW 19 55,077,374 (GRCm39) missense probably damaging 0.99
R8510:Gpam UTSW 19 55,068,814 (GRCm39) critical splice donor site probably null
R8537:Gpam UTSW 19 55,084,671 (GRCm39) missense probably benign 0.02
R8841:Gpam UTSW 19 55,066,950 (GRCm39) missense probably damaging 1.00
R8915:Gpam UTSW 19 55,077,312 (GRCm39) missense probably benign
R8987:Gpam UTSW 19 55,072,227 (GRCm39) missense possibly damaging 0.79
R9224:Gpam UTSW 19 55,075,907 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGCAGAACGCATACTGTG -3'
(R):5'- TCCAGTTGCATTTCCACTGTAAAC -3'

Sequencing Primer
(F):5'- AGAACGCATACTGTGTCCTG -3'
(R):5'- CCACTGTAAACTGCAGTTTCAGG -3'
Posted On 2016-11-08