Incidental Mutation 'R7715:Gpam'
ID 594889
Institutional Source Beutler Lab
Gene Symbol Gpam
Ensembl Gene ENSMUSG00000024978
Gene Name glycerol-3-phosphate acyltransferase, mitochondrial
Synonyms GPAT1
MMRRC Submission 045773-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.260) question?
Stock # R7715 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 55056067-55115666 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 55077353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 146 (V146G)
Ref Sequence ENSEMBL: ENSMUSP00000057635 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061856]
AlphaFold Q61586
Predicted Effect probably benign
Transcript: ENSMUST00000061856
AA Change: V146G

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000057635
Gene: ENSMUSG00000024978
AA Change: V146G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (67/68)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik A G 1: 53,221,659 (GRCm39) F57L probably benign Het
Agl C T 3: 116,551,905 (GRCm39) R563Q Het
Ahctf1 A G 1: 179,598,413 (GRCm39) M919T probably benign Het
Ano4 A T 10: 88,831,173 (GRCm39) N483K probably damaging Het
Armt1 A G 10: 4,400,751 (GRCm39) K166R probably benign Het
Asgr2 T C 11: 69,987,721 (GRCm39) V73A probably benign Het
Atp6v0a2 A C 5: 124,791,262 (GRCm39) T564P probably damaging Het
B3gntl1 T C 11: 121,530,622 (GRCm39) T150A possibly damaging Het
Bach1 A G 16: 87,516,859 (GRCm39) I467V possibly damaging Het
Bicd1 A G 6: 149,414,471 (GRCm39) K395E probably benign Het
Cadps G A 14: 12,457,762 (GRCm38) P1040S probably benign Het
Calcoco2 TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,862 (GRCm39) probably null Het
Canx A G 11: 50,201,631 (GRCm39) S80P probably benign Het
Ccdc149 T A 5: 52,561,533 (GRCm39) probably null Het
Cd34 A T 1: 194,631,624 (GRCm39) N87Y probably damaging Het
Cdh11 T A 8: 103,391,346 (GRCm39) I297F possibly damaging Het
Cfap251 A G 5: 123,400,197 (GRCm39) N439D probably damaging Het
Cip2a A T 16: 48,834,347 (GRCm39) Q643L probably damaging Het
Col14a1 A G 15: 55,351,379 (GRCm39) I1569V unknown Het
Cxcr4 C T 1: 128,517,479 (GRCm39) V61M probably damaging Het
Cyp20a1 G A 1: 60,411,764 (GRCm39) V271M probably benign Het
Cyp2b23 T C 7: 26,381,120 (GRCm39) Y79C probably benign Het
Daam1 A G 12: 72,035,675 (GRCm39) K957E probably benign Het
Dip2c A G 13: 9,664,427 (GRCm39) K947E probably damaging Het
Efcab12 T C 6: 115,800,504 (GRCm39) K173R possibly damaging Het
Emc1 C T 4: 139,098,934 (GRCm39) R806C probably damaging Het
Epg5 G A 18: 78,011,801 (GRCm39) R816Q probably damaging Het
Faf1 G T 4: 109,568,011 (GRCm39) D24Y probably damaging Het
Fchsd1 A T 18: 38,099,695 (GRCm39) probably null Het
Foxp1 T C 6: 98,922,621 (GRCm39) T404A unknown Het
Fra10ac1 T C 19: 38,178,286 (GRCm39) E299G probably damaging Het
Gon4l A G 3: 88,815,313 (GRCm39) T1959A probably benign Het
Hephl1 T A 9: 14,972,081 (GRCm39) D953V probably benign Het
Kcnc2 G T 10: 112,107,845 (GRCm39) E79* probably null Het
Kcnj12 T A 11: 60,957,778 (GRCm39) probably null Het
Llgl2 A T 11: 115,740,554 (GRCm39) T417S probably benign Het
Lrrc17 A T 5: 21,766,078 (GRCm39) N187Y probably damaging Het
Macc1 C T 12: 119,409,991 (GRCm39) A253V possibly damaging Het
Mark1 A G 1: 184,639,431 (GRCm39) S529P probably damaging Het
Mfsd6l T C 11: 68,448,376 (GRCm39) L409P probably damaging Het
Nek1 A G 8: 61,459,794 (GRCm39) E34G probably damaging Het
Nlrp3 T A 11: 59,433,829 (GRCm39) probably null Het
Obsl1 A T 1: 75,478,680 (GRCm39) V686D probably damaging Het
Or2l5 C T 16: 19,333,480 (GRCm39) R302K probably benign Het
Or55b10 T A 7: 102,143,668 (GRCm39) M105L possibly damaging Het
Or7h8 G A 9: 20,123,731 (GRCm39) G29R probably damaging Het
Or7h8 G A 9: 20,123,732 (GRCm39) G29E probably benign Het
Or8c15 T A 9: 38,120,775 (GRCm39) M140K probably benign Het
Or8g18 A T 9: 39,149,174 (GRCm39) L182H probably damaging Het
Ostm1 G A 10: 42,559,183 (GRCm39) G148R probably benign Het
Oxsr1 A G 9: 119,071,822 (GRCm39) S470P probably damaging Het
Pacs1 C T 19: 5,191,709 (GRCm39) M709I probably benign Het
Pan2 A G 10: 128,153,592 (GRCm39) M963V probably benign Het
Pds5a A G 5: 65,795,904 (GRCm39) L662P possibly damaging Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,119 (GRCm39) probably benign Het
Sh2b2 T C 5: 136,247,889 (GRCm39) N554S probably benign Het
Sh3gl2 T A 4: 85,317,077 (GRCm39) probably null Het
Slc24a4 A G 12: 102,185,219 (GRCm39) M93V possibly damaging Het
Sohlh1 A G 2: 25,734,640 (GRCm39) S218P possibly damaging Het
Spast T A 17: 74,675,921 (GRCm39) N321K probably benign Het
Srcap T G 7: 127,148,460 (GRCm39) I1936S probably damaging Het
Themis G A 10: 28,739,305 (GRCm39) V592I probably benign Het
Tnfrsf1a C T 6: 125,338,377 (GRCm39) T296I possibly damaging Het
Ttk A G 9: 83,747,206 (GRCm39) T682A probably benign Het
Virma C T 4: 11,549,682 (GRCm39) R1807W probably damaging Het
Virma A G 4: 11,513,016 (GRCm39) probably null Het
Vmn2r101 T A 17: 19,832,177 (GRCm39) D724E probably damaging Het
Vmn2r11 A G 5: 109,195,307 (GRCm39) V673A probably damaging Het
Wbp4 C T 14: 79,703,734 (GRCm39) S271N probably benign 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
R5621:Gpam UTSW 19 55,067,692 (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
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'- ATCTACTTGAAGGAAACAGGCTGG -3'
(R):5'- TGGCTGATGGTCCCAACTTG -3'

Sequencing Primer
(F):5'- AAACAGGCTGGCTCGGG -3'
(R):5'- TCTCTCTGGCTGCTATACTATAAATG -3'
Posted On 2019-11-12