Incidental Mutation 'R8187:Gpam'
ID 634949
Institutional Source Beutler Lab
Gene Symbol Gpam
Ensembl Gene ENSMUSG00000024978
Gene Name glycerol-3-phosphate acyltransferase, mitochondrial
Synonyms GPAT1
MMRRC Submission 067610-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.260) question?
Stock # R8187 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 55056067-55115666 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55066269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 631 (T631A)
Ref Sequence ENSEMBL: ENSMUSP00000057635 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061856]
AlphaFold Q61586
Predicted Effect probably benign
Transcript: ENSMUST00000061856
AA Change: T631A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000057635
Gene: ENSMUSG00000024978
AA Change: T631A

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: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (57/57)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik A T 1: 120,115,913 (GRCm39) *122L probably null Het
4930438A08Rik A G 11: 58,180,548 (GRCm39) S200G Het
Adgre1 T A 17: 57,727,349 (GRCm39) S426R probably benign Het
Adgrg1 A G 8: 95,732,446 (GRCm39) E229G probably benign Het
Arhgap45 G A 10: 79,863,706 (GRCm39) A819T probably damaging Het
Arhgef39 A T 4: 43,498,999 (GRCm39) L84Q probably damaging Het
Bpifb9a A G 2: 154,111,377 (GRCm39) I544V probably benign Het
Brwd1 A T 16: 95,803,934 (GRCm39) L2079I probably damaging Het
Ccnh T A 13: 85,337,656 (GRCm39) M1K probably null Het
Cdh16 T C 8: 105,344,870 (GRCm39) N415S probably damaging Het
Chuk T C 19: 44,079,551 (GRCm39) N317D probably benign Het
Cnot10 A T 9: 114,426,556 (GRCm39) C665* probably null Het
Csmd1 G T 8: 16,177,188 (GRCm39) H1358Q probably damaging Het
Cyp4f37 T C 17: 32,854,171 (GRCm39) V540A probably benign Het
Daam1 A G 12: 71,942,602 (GRCm39) D22G unknown Het
Dhdds A G 4: 133,727,679 (GRCm39) probably benign Het
Dnah5 T C 15: 28,384,355 (GRCm39) V3033A probably damaging Het
Dync1i2 A G 2: 71,044,865 (GRCm39) K25R probably benign Het
Efhc1 T A 1: 21,030,396 (GRCm39) S110T probably damaging Het
Emilin3 T C 2: 160,750,000 (GRCm39) N583S possibly damaging Het
Eri2 A G 7: 119,384,767 (GRCm39) V578A probably damaging Het
F2rl2 A T 13: 95,837,911 (GRCm39) I319L probably benign Het
Gjd3 A C 11: 102,691,381 (GRCm39) Y207* probably null Het
Gm19965 T A 1: 116,749,532 (GRCm39) C404* probably null Het
Gm2832 A T 14: 41,000,915 (GRCm39) H51L Het
Hdac2 T C 10: 36,864,132 (GRCm39) S114P probably damaging Het
Hsd3b1 T A 3: 98,759,933 (GRCm39) T353S probably damaging Het
Idh1 T C 1: 65,198,700 (GRCm39) D390G probably damaging Het
Il36g T G 2: 24,082,617 (GRCm39) L131V probably damaging Het
Irs1 G T 1: 82,266,021 (GRCm39) P732T probably damaging Het
Kansl1l T A 1: 66,840,896 (GRCm39) I135F possibly damaging Het
Mcc A G 18: 44,667,327 (GRCm39) V208A possibly damaging Het
Mgrn1 A G 16: 4,738,229 (GRCm39) N261S probably benign Het
Mybpc2 T A 7: 44,161,894 (GRCm39) N519Y possibly damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nr1h5 G T 3: 102,861,986 (GRCm39) H94Q probably benign Het
Nsmce4a A G 7: 130,144,519 (GRCm39) V128A probably benign Het
Or5w14 T G 2: 87,541,624 (GRCm39) S209R probably benign Het
Or6y1 TTGTGTG TTGTG 1: 174,276,838 (GRCm39) probably null Het
Osmr T A 15: 6,850,485 (GRCm39) Y707F probably damaging Het
Pck1 G T 2: 172,997,033 (GRCm39) R225L probably benign Het
Prom1 A T 5: 44,191,708 (GRCm39) L354Q probably damaging Het
Rev3l C A 10: 39,682,693 (GRCm39) Q300K probably benign Het
Rin3 T A 12: 102,292,066 (GRCm39) C88S unknown Het
Slc37a4 T C 9: 44,311,291 (GRCm39) V194A possibly damaging Het
Smpd4 T A 16: 17,446,999 (GRCm39) H242Q probably damaging Het
Spen T C 4: 141,200,216 (GRCm39) I2804V possibly damaging Het
Srrm4 A C 5: 116,587,680 (GRCm39) F359L unknown Het
Svs5 A G 2: 164,079,692 (GRCm39) Y72H possibly damaging Het
Tmem158 T A 9: 123,088,875 (GRCm39) T246S unknown Het
Ttn A G 2: 76,633,735 (GRCm39) V14038A probably benign Het
Ttn A G 2: 76,559,790 (GRCm39) I29537T probably damaging Het
Ttn A G 2: 76,626,069 (GRCm39) S14997P probably damaging Het
Vmn1r231 A T 17: 21,110,893 (GRCm39) D7E probably benign Het
Vmn2r14 A G 5: 109,368,420 (GRCm39) S191P probably benign Het
Zfp599 G T 9: 22,161,111 (GRCm39) Y351* probably null Het
Zfp729a T A 13: 67,769,918 (GRCm39) K104* probably null 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
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
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'- TCAGAAAGCTGTATGGACGG -3'
(R):5'- AGACCCAGAACTGTTGACTTC -3'

Sequencing Primer
(F):5'- TTAGAAGATGAGTGACTCTGCCCC -3'
(R):5'- GACCCAGAACTGTTGACTTCAGATTC -3'
Posted On 2020-07-13