Incidental Mutation 'PIT4677001:Mgll'
ID 556552
Institutional Source Beutler Lab
Gene Symbol Mgll
Ensembl Gene ENSMUSG00000033174
Gene Name monoglyceride lipase
Synonyms Magl
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # PIT4677001 (G1)
Quality Score 147.008
Status Not validated
Chromosome 6
Chromosomal Location 88701397-88805342 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88802663 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 273 (R273W)
Ref Sequence ENSEMBL: ENSMUSP00000109215 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089449] [ENSMUST00000113581] [ENSMUST00000113582] [ENSMUST00000113585] [ENSMUST00000163271] [ENSMUST00000203608] [ENSMUST00000203824]
AlphaFold O35678
Predicted Effect possibly damaging
Transcript: ENSMUST00000089449
AA Change: R273W

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000086872
Gene: ENSMUSG00000033174
AA Change: R273W

DomainStartEndE-ValueType
Pfam:Hydrolase_4 27 105 6e-29 PFAM
Pfam:Abhydrolase_5 43 270 1e-21 PFAM
Pfam:Abhydrolase_6 44 282 4.4e-26 PFAM
Pfam:DUF2305 55 186 1.7e-7 PFAM
Pfam:Lipase_3 56 163 1.6e-9 PFAM
Pfam:Abhydrolase_1 71 284 4.2e-14 PFAM
Pfam:Esterase 82 195 8.6e-8 PFAM
Pfam:Abhydrolase_3 88 273 8.8e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113581
AA Change: R301W

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109211
Gene: ENSMUSG00000033174
AA Change: R301W

DomainStartEndE-ValueType
Pfam:Hydrolase_4 39 304 6.8e-70 PFAM
Pfam:Abhydrolase_5 43 298 1.1e-20 PFAM
Pfam:Abhydrolase_1 44 186 8.1e-13 PFAM
Pfam:Abhydrolase_6 44 310 4.4e-15 PFAM
Pfam:DUF2305 55 224 2.2e-8 PFAM
Pfam:Lipase_3 58 146 1.4e-8 PFAM
Pfam:Esterase 82 195 1.7e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113582
AA Change: R228W

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109212
Gene: ENSMUSG00000033174
AA Change: R228W

DomainStartEndE-ValueType
Pfam:Hydrolase_4 27 105 4.4e-29 PFAM
Pfam:Abhydrolase_5 43 225 3.2e-18 PFAM
Pfam:Abhydrolase_6 44 184 1.3e-18 PFAM
Pfam:Lipase_3 55 163 1.2e-9 PFAM
Pfam:DUF2305 55 249 4.9e-8 PFAM
Pfam:Abhydrolase_1 71 220 1.1e-13 PFAM
Pfam:Esterase 81 222 4.8e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113585
AA Change: R273W

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000109215
Gene: ENSMUSG00000033174
AA Change: R273W

DomainStartEndE-ValueType
Pfam:Hydrolase_4 27 105 6e-29 PFAM
Pfam:Abhydrolase_5 43 270 1e-21 PFAM
Pfam:Abhydrolase_6 44 282 4.4e-26 PFAM
Pfam:DUF2305 55 186 1.7e-7 PFAM
Pfam:Lipase_3 56 163 1.6e-9 PFAM
Pfam:Abhydrolase_1 71 284 4.2e-14 PFAM
Pfam:Esterase 82 195 8.6e-8 PFAM
Pfam:Abhydrolase_3 88 273 8.8e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000163271
AA Change: R289W

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000127374
Gene: ENSMUSG00000033174
AA Change: R289W

DomainStartEndE-ValueType
Pfam:Hydrolase_4 43 121 3e-28 PFAM
Pfam:Abhydrolase_5 59 286 3.9e-21 PFAM
Pfam:Abhydrolase_6 60 298 1.1e-25 PFAM
Pfam:DUF2305 71 202 1.3e-7 PFAM
Pfam:Lipase_3 72 179 2.6e-9 PFAM
Pfam:Abhydrolase_1 87 300 1.1e-13 PFAM
Pfam:Esterase 98 211 2e-7 PFAM
Pfam:Abhydrolase_3 104 289 8.7e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203608
Predicted Effect probably benign
Transcript: ENSMUST00000203824
Coding Region Coverage
  • 1x: 93.3%
  • 3x: 90.8%
  • 10x: 84.5%
  • 20x: 71.0%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a monoglyceride lipase, which catalyzes the hydrolysis of monoglycerides into fatty acids and glycerol. This enzyme is also thought to hydrolyze the endocannabinoid 2-arachidonoylglycerol. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit hypoalgesia, increased body temperature, and decreased fatty acid levels. Mice homozygous for a targeted allele exhibit impaired lipolysis and improved glucose homeostasis on a high-fat diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810024B03Rik T A 2: 127,028,933 (GRCm39) T89S probably benign Het
4921517D22Rik A T 13: 59,838,305 (GRCm39) F176I probably benign Het
Acsm3 A G 7: 119,374,340 (GRCm39) D264G probably damaging Het
Adamts12 T A 15: 11,286,896 (GRCm39) F834I probably benign Het
Arhgap45 A T 10: 79,856,583 (GRCm39) M171L probably benign Het
Arid5b A T 10: 67,933,841 (GRCm39) M687K probably damaging Het
AU040320 A T 4: 126,686,030 (GRCm39) Q202L probably benign Het
Ccdc47 A G 11: 106,099,034 (GRCm39) L219P probably damaging Het
Cfhr2 T G 1: 139,733,117 (GRCm39) S301R unknown Het
Cog2 T A 8: 125,272,010 (GRCm39) V508E probably benign Het
Cpb2 A G 14: 75,493,463 (GRCm39) T47A probably benign Het
Ddx60 A T 8: 62,425,288 (GRCm39) K692I possibly damaging Het
Defb34 A T 8: 19,176,412 (GRCm39) R34S possibly damaging Het
Fads2 A T 19: 10,047,694 (GRCm39) I275N probably damaging Het
Fmn2 T G 1: 174,474,699 (GRCm39) S1221A probably damaging Het
Fndc3a A T 14: 72,812,035 (GRCm39) V302E probably benign Het
Galntl6 C T 8: 58,310,621 (GRCm39) C360Y probably damaging Het
Gm16519 A T 17: 71,236,506 (GRCm39) I152F probably benign Het
Hnrnpr T A 4: 136,056,750 (GRCm39) V250D probably damaging Het
Hs3st6 A G 17: 24,977,285 (GRCm39) D255G possibly damaging Het
Ift70a1 A G 2: 75,810,113 (GRCm39) Y657H possibly damaging Het
Ino80 C T 2: 119,208,026 (GRCm39) V1422M probably benign Het
Insyn2b A T 11: 34,353,122 (GRCm39) N388I probably benign Het
Kcnu1 A G 8: 26,396,021 (GRCm39) I669V probably benign Het
Layn A T 9: 50,968,711 (GRCm39) V344E probably damaging Het
Myh2 G A 11: 67,072,818 (GRCm39) S636N probably benign Het
Nmur2 A T 11: 55,923,835 (GRCm39) S240T probably benign Het
Pkd1 T G 17: 24,793,003 (GRCm39) S1563R possibly damaging Het
Ppp4r3b G A 11: 29,137,978 (GRCm39) V109I probably benign Het
Prdm2 A T 4: 142,861,648 (GRCm39) D547E probably damaging Het
Prss46 A T 9: 110,685,098 (GRCm39) M241L probably benign Het
Ptprf T A 4: 118,070,809 (GRCm39) I1397F probably damaging Het
Pus10 A T 11: 23,670,171 (GRCm39) T418S possibly damaging Het
Qsox2 T C 2: 26,112,320 (GRCm39) D74G probably damaging Het
Sctr T C 1: 119,989,634 (GRCm39) V383A probably damaging Het
Siglec1 T A 2: 130,914,677 (GRCm39) N1480Y probably damaging Het
Skint2 T C 4: 112,483,135 (GRCm39) I180T probably benign Het
Snd1 A G 6: 28,880,295 (GRCm39) I690V probably benign Het
Spire1 T C 18: 67,624,435 (GRCm39) T575A probably damaging Het
Srbd1 G A 17: 86,422,640 (GRCm39) R459* probably null Het
Tll2 C A 19: 41,118,997 (GRCm39) V244L probably benign Het
Tmem60 A G 5: 21,091,366 (GRCm39) I44V probably benign Het
Utrn T A 10: 12,542,448 (GRCm39) I1846F probably benign Het
Vinac1 T C 2: 128,880,636 (GRCm39) D430G Het
Vps8 T C 16: 21,319,084 (GRCm39) F641S possibly damaging Het
Other mutations in Mgll
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03182:Mgll APN 6 88,800,173 (GRCm39) missense probably damaging 1.00
R0624:Mgll UTSW 6 88,702,799 (GRCm39) missense probably damaging 0.98
R1550:Mgll UTSW 6 88,790,871 (GRCm39) missense probably benign 0.00
R1779:Mgll UTSW 6 88,790,930 (GRCm39) nonsense probably null
R2230:Mgll UTSW 6 88,802,714 (GRCm39) missense possibly damaging 0.65
R3712:Mgll UTSW 6 88,741,570 (GRCm39) intron probably benign
R4751:Mgll UTSW 6 88,702,093 (GRCm39) utr 5 prime probably benign
R5030:Mgll UTSW 6 88,795,647 (GRCm39) critical splice donor site probably null
R5216:Mgll UTSW 6 88,743,311 (GRCm39) nonsense probably null
R5523:Mgll UTSW 6 88,702,743 (GRCm39) missense probably benign 0.04
R6545:Mgll UTSW 6 88,802,685 (GRCm39) missense probably benign
R7251:Mgll UTSW 6 88,800,357 (GRCm39) missense probably benign 0.17
R7307:Mgll UTSW 6 88,791,103 (GRCm39) splice site probably null
R7745:Mgll UTSW 6 88,702,770 (GRCm39) missense possibly damaging 0.77
R8269:Mgll UTSW 6 88,790,930 (GRCm39) nonsense probably null
R8892:Mgll UTSW 6 88,743,306 (GRCm39) missense unknown
R9063:Mgll UTSW 6 88,802,690 (GRCm39) missense possibly damaging 0.62
Predicted Primers PCR Primer
(F):5'- AGATACCTTCTCAGCTGCCAG -3'
(R):5'- AGGGTACTAAGGGTTCCTCC -3'

Sequencing Primer
(F):5'- GGCAGCCTAAGCAACACGG -3'
(R):5'- CTGCTATCCTGTGAGACA -3'
Posted On 2019-06-07