Incidental Mutation 'R6965:Gpam'
ID 541976
Institutional Source Beutler Lab
Gene Symbol Gpam
Ensembl Gene ENSMUSG00000024978
Gene Name glycerol-3-phosphate acyltransferase, mitochondrial
Synonyms GPAT1
MMRRC Submission 045075-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.260) question?
Stock # R6965 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 55056067-55115666 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55063041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 757 (Y757C)
Ref Sequence ENSEMBL: ENSMUSP00000057635 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061856]
AlphaFold Q61586
Predicted Effect probably damaging
Transcript: ENSMUST00000061856
AA Change: Y757C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057635
Gene: ENSMUSG00000024978
AA Change: Y757C

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: 99.3%
  • 20x: 97.3%
Validation Efficiency
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 C T 7: 119,882,452 (GRCm39) Q1205* probably null Het
Als2 A G 1: 59,209,716 (GRCm39) F1422S possibly damaging Het
Anapc4 T C 5: 52,993,093 (GRCm39) V68A possibly damaging Het
Atmin T C 8: 117,683,777 (GRCm39) F479S probably damaging Het
Atp7b T C 8: 22,518,101 (GRCm39) T234A probably benign Het
Bpifa1 G A 2: 153,987,581 (GRCm39) G144S probably damaging Het
Brf2 A T 8: 27,614,586 (GRCm39) M200K probably benign Het
C1ql2 G A 1: 120,268,944 (GRCm39) C33Y probably damaging Het
Cdk18 A G 1: 132,045,319 (GRCm39) V269A probably damaging Het
Clcc1 T C 3: 108,580,625 (GRCm39) V313A probably damaging Het
Cntrl A T 2: 35,052,845 (GRCm39) T1117S probably benign Het
Col15a1 G A 4: 47,247,533 (GRCm39) E236K probably damaging Het
Comp T C 8: 70,829,164 (GRCm39) L278P probably damaging Het
Csnk2a1-ps3 C T 1: 156,352,119 (GRCm39) R107* probably null Het
Dlg5 C A 14: 24,199,498 (GRCm39) D1469Y probably damaging Het
Efna1 A T 3: 89,186,782 (GRCm39) V23D probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Epb41l4b T C 4: 57,040,915 (GRCm39) Y516C probably damaging Het
Esr2 T C 12: 76,168,631 (GRCm39) D526G probably damaging Het
Fam184b T C 5: 45,712,477 (GRCm39) T514A probably benign Het
Fcmr A C 1: 130,803,724 (GRCm39) E176A possibly damaging Het
Fry T A 5: 150,339,685 (GRCm39) N1485K possibly damaging Het
Fut2 A G 7: 45,300,305 (GRCm39) C156R probably damaging Het
Gm5431 T C 11: 48,786,027 (GRCm39) Y116C probably benign Het
Gm5493 T A 17: 22,967,047 (GRCm39) V61E possibly damaging Het
Golga4 A T 9: 118,377,847 (GRCm39) Q456L probably damaging Het
Iqcg C T 16: 32,851,174 (GRCm39) A266T probably benign Het
Lta4h G T 10: 93,307,759 (GRCm39) G331* probably null Het
Macf1 C A 4: 123,302,538 (GRCm39) V655F probably benign Het
Map3k13 T A 16: 21,740,900 (GRCm39) D742E probably benign Het
Mrgprb2 G A 7: 48,202,597 (GRCm39) L43F probably damaging Het
N4bp1 T C 8: 87,571,461 (GRCm39) R846G probably damaging Het
Nbn T C 4: 15,970,863 (GRCm39) I282T probably benign Het
Ncor1 C T 11: 62,244,059 (GRCm39) probably null Het
Or4a77 G T 2: 89,487,009 (GRCm39) P259T probably damaging Het
Or4d10c A G 19: 12,066,120 (GRCm39) F12S possibly damaging Het
Or8b12 T A 9: 37,657,433 (GRCm39) M1K probably null Het
Pclo A G 5: 14,731,976 (GRCm39) probably benign Het
Pde9a G T 17: 31,662,861 (GRCm39) V97L probably benign Het
Ptch1 T C 13: 63,672,881 (GRCm39) Y771C possibly damaging Het
R3hcc1l G A 19: 42,551,284 (GRCm39) D94N probably damaging Het
Rnpep T A 1: 135,190,858 (GRCm39) K602* probably null Het
Rph3al T C 11: 75,745,276 (GRCm39) Y156C probably damaging Het
Rundc1 A T 11: 101,324,737 (GRCm39) Y481F possibly damaging Het
Serpinb9f A G 13: 33,509,859 (GRCm39) K17R possibly damaging Het
Smpd3 T C 8: 106,986,513 (GRCm39) H459R probably damaging Het
Spata31 A C 13: 65,070,648 (GRCm39) Q932P possibly damaging Het
Srgap3 C T 6: 112,700,090 (GRCm39) A963T probably damaging Het
Syne1 A T 10: 5,179,120 (GRCm39) F4451L possibly damaging Het
Tbc1d19 T A 5: 54,014,266 (GRCm39) probably null Het
Thap12 T A 7: 98,364,669 (GRCm39) V279D probably damaging Het
Tmprss6 T C 15: 78,328,328 (GRCm39) D544G probably damaging Het
Tox2 A G 2: 163,164,930 (GRCm39) *523W probably null Het
Txnrd1 T C 10: 82,717,652 (GRCm39) I212T probably benign Het
Unc80 T C 1: 66,685,725 (GRCm39) I2283T probably benign Het
Vmn1r176 A G 7: 23,535,099 (GRCm39) I18T possibly damaging Het
Vmn2r101 C T 17: 19,811,284 (GRCm39) T456I probably benign Het
Vmn2r79 T A 7: 86,651,100 (GRCm39) H166Q probably benign Het
Zer1 A G 2: 29,991,059 (GRCm39) V723A possibly 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
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
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'- AGGAAAACAGGTTTGTGGTTTTG -3'
(R):5'- CCTCTGCTTATGCTCTCAGG -3'

Sequencing Primer
(F):5'- TCAATTGGTAGACTACACTGGCC -3'
(R):5'- TCTCAGGTGAGCCAGTCCAAG -3'
Posted On 2018-11-28