Incidental Mutation 'R5951:Gpd1l'
ID470896
Institutional Source Beutler Lab
Gene Symbol Gpd1l
Ensembl Gene ENSMUSG00000050627
Gene Nameglycerol-3-phosphate dehydrogenase 1-like
SynonymsD9Ertd660e, 2210409H23Rik
MMRRC Submission 044141-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5951 (G1)
Quality Score152
Status Validated
Chromosome9
Chromosomal Location114899341-114933987 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 114914405 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Isoleucine at position 142 (M142I)
Ref Sequence ENSEMBL: ENSMUSP00000117509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084853] [ENSMUST00000146623]
Predicted Effect probably benign
Transcript: ENSMUST00000084853
AA Change: M142I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000081913
Gene: ENSMUSG00000050627
AA Change: M142I

DomainStartEndE-ValueType
Pfam:NAD_Gly3P_dh_N 7 176 4.9e-56 PFAM
Pfam:NAD_Gly3P_dh_C 194 319 9.8e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146266
Predicted Effect probably benign
Transcript: ENSMUST00000146623
AA Change: M142I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000117509
Gene: ENSMUSG00000050627
AA Change: M142I

DomainStartEndE-ValueType
Pfam:NAD_Gly3P_dh_N 7 176 3.6e-52 PFAM
Pfam:NAD_Gly3P_dh_C 195 342 6.8e-51 PFAM
Meta Mutation Damage Score 0.05 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
Validation Efficiency 100% (78/78)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the conversion of sn-glycerol 3-phosphate to glycerone phosphate. The encoded protein is found in the cytoplasm, associated with the plasma membrane, where it binds the sodium channel, voltage-gated, type V, alpha subunit (SCN5A). Defects in this gene are a cause of Brugada syndrome type 2 (BRS2) as well as sudden infant death syndrome (SIDS). [provided by RefSeq, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T A 2: 35,354,799 E180D probably damaging Het
Add3 A G 19: 53,244,289 probably null Het
Adgrv1 A T 13: 81,442,501 I4396N probably damaging Het
Apc C T 18: 34,317,146 S2331L possibly damaging Het
Apoh G T 11: 108,395,903 C51F probably damaging Het
Arid4b T C 13: 14,143,063 V177A possibly damaging Het
Atp13a1 T A 8: 69,797,285 I343N probably damaging Het
Bcar1 T C 8: 111,713,400 D654G probably benign Het
Brox T C 1: 183,282,508 K245R probably damaging Het
Ccdc146 A T 5: 21,319,579 S258R possibly damaging Het
Ccdc169 A C 3: 55,140,141 K18Q probably damaging Het
Cenps C A 4: 149,130,201 probably benign Het
Crot C A 5: 8,969,120 E478* probably null Het
Dgkq A T 5: 108,654,370 M443K probably damaging Het
Dhx32 A T 7: 133,737,328 L326Q probably damaging Het
Dtwd1 A G 2: 126,158,422 I93V probably benign Het
Ehmt2 C T 17: 34,899,381 T44I probably benign Het
Enc1 T C 13: 97,245,257 S92P probably benign Het
Epha5 T C 5: 84,331,192 probably benign Het
Eya4 T A 10: 23,155,994 S244C probably damaging Het
Fmnl3 G A 15: 99,325,910 R302W probably damaging Het
Fscn3 A T 6: 28,436,174 I490F possibly damaging Het
Galntl6 A G 8: 57,962,402 V239A probably benign Het
Glg1 T C 8: 111,165,691 I841V possibly damaging Het
Gm15455 T C 1: 33,837,812 noncoding transcript Het
Helb A G 10: 120,091,748 V819A possibly damaging Het
Hnrnpul2 T G 19: 8,824,891 F374C probably damaging Het
Hoxc10 G A 15: 102,967,318 S154N possibly damaging Het
Ice2 A T 9: 69,412,369 T367S possibly damaging Het
Iqca A T 1: 90,140,097 probably null Het
Itgb4 C T 11: 115,984,157 R447W probably benign Het
Klhl14 T A 18: 21,651,620 H250L probably damaging Het
Kmt2c A T 5: 25,330,803 D1447E probably benign Het
Larp1 G T 11: 58,049,939 M630I probably benign Het
Lrp2 A G 2: 69,496,323 probably null Het
Map4k3 G T 17: 80,603,998 Q673K probably benign Het
Mettl16 A G 11: 74,795,997 N201D possibly damaging Het
Mrpl15 C A 1: 4,785,733 probably benign Het
Mthfd1l T A 10: 4,048,222 V655D probably damaging Het
Odf1 T C 15: 38,226,287 Y144H probably damaging Het
Olfr1093 G T 2: 86,786,227 V166L probably benign Het
Olfr38 G T 6: 42,762,559 C169F probably damaging Het
Padi1 T C 4: 140,814,829 Y594C probably damaging Het
Palm3 T A 8: 84,029,420 D520E probably benign Het
Paox G A 7: 140,127,654 C130Y probably damaging Het
Parpbp T A 10: 88,139,907 S115C probably damaging Het
Pcnx3 A G 19: 5,671,680 V1438A possibly damaging Het
Pdlim2 T A 14: 70,167,780 D212V probably benign Het
Pi4ka A G 16: 17,303,142 F53L probably damaging Het
Pik3c2a A T 7: 116,368,184 D839E probably damaging Het
Pou2f1 T C 1: 165,883,056 probably benign Het
Ppl A T 16: 5,088,628 Y1268N probably benign Het
Prelid3a C T 18: 67,464,941 S6L probably benign Het
Ptk2 T G 15: 73,303,833 D285A possibly damaging Het
Rasd2 T G 8: 75,222,183 Y246D probably damaging Het
Rhbdl2 A G 4: 123,814,327 T110A probably benign Het
Rhobtb1 T A 10: 69,270,255 F217I probably damaging Het
Serhl T C 15: 83,103,036 probably benign Het
Sh3tc2 A G 18: 61,990,007 E613G probably damaging Het
Slc26a3 A G 12: 31,452,715 probably benign Het
Steap4 T C 5: 7,975,769 I110T probably benign Het
Syde1 C A 10: 78,589,316 R287L possibly damaging Het
Tmem184c C T 8: 77,598,662 probably null Het
Trmt44 C A 5: 35,572,688 probably benign Het
Ttbk2 G T 2: 120,773,283 S256R probably benign Het
Ttll6 A T 11: 96,145,510 I322F probably damaging Het
Ubap2 A T 4: 41,205,753 probably null Het
Wsb2 A T 5: 117,377,535 T402S probably damaging Het
Other mutations in Gpd1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02644:Gpd1l APN 9 114903657 splice site probably null
R0584:Gpd1l UTSW 9 114914344 missense probably damaging 1.00
R1847:Gpd1l UTSW 9 114914331 missense probably damaging 1.00
R1966:Gpd1l UTSW 9 114914394 missense probably benign 0.03
R4082:Gpd1l UTSW 9 114917078 missense probably damaging 1.00
R6845:Gpd1l UTSW 9 114933717 start codon destroyed probably null 0.00
R7445:Gpd1l UTSW 9 114920674 missense probably damaging 1.00
X0022:Gpd1l UTSW 9 114914326 missense probably null 1.00
Predicted Primers PCR Primer
(F):5'- CATGTGCAGCATATGAGGCC -3'
(R):5'- ATCTTACCCAAAGCAAGTTGC -3'

Sequencing Primer
(F):5'- TGCAGCATATGAGGCCCTGAG -3'
(R):5'- GAAAGTTTCACTCTGTAGCCCAGG -3'
Posted On2017-03-31