Incidental Mutation 'R2230:Mgll'
ID 239981
Institutional Source Beutler Lab
Gene Symbol Mgll
Ensembl Gene ENSMUSG00000033174
Gene Name monoglyceride lipase
Synonyms Magl
MMRRC Submission 040231-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R2230 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 88701397-88805342 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 88802714 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 318 (V318M)
Ref Sequence ENSEMBL: ENSMUSP00000109211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089449] [ENSMUST00000113581] [ENSMUST00000113582] [ENSMUST00000113585] [ENSMUST00000163271] [ENSMUST00000203608] [ENSMUST00000203824]
AlphaFold O35678
Predicted Effect probably benign
Transcript: ENSMUST00000089449
AA Change: V290M

PolyPhen 2 Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000086872
Gene: ENSMUSG00000033174
AA Change: V290M

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: ENSMUST00000113581
AA Change: V318M

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000109211
Gene: ENSMUSG00000033174
AA Change: V318M

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 probably benign
Transcript: ENSMUST00000113582
AA Change: V245M

PolyPhen 2 Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000109212
Gene: ENSMUSG00000033174
AA Change: V245M

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 probably benign
Transcript: ENSMUST00000113585
AA Change: V290M

PolyPhen 2 Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109215
Gene: ENSMUSG00000033174
AA Change: V290M

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: V306M

PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000127374
Gene: ENSMUSG00000033174
AA Change: V306M

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 noncoding transcript
Transcript: ENSMUST00000205045
Predicted Effect probably benign
Transcript: ENSMUST00000203824
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (62/62)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam12 A T 7: 133,521,347 (GRCm39) N280K probably damaging Het
Adgrf4 C T 17: 42,977,789 (GRCm39) R518Q possibly damaging Het
Ankra2 T C 13: 98,407,646 (GRCm39) F199L probably damaging Het
Ankrd63 A G 2: 118,533,846 (GRCm39) probably benign Het
Apoa2 A G 1: 171,053,340 (GRCm39) K53R probably benign Het
Atr A G 9: 95,802,818 (GRCm39) R1827G probably damaging Het
Ccdc61 T C 7: 18,625,032 (GRCm39) E502G probably damaging Het
Ccn2 T A 10: 24,472,371 (GRCm39) M138K possibly damaging Het
Cdon T C 9: 35,403,222 (GRCm39) probably null Het
Cyp2c68 T A 19: 39,687,804 (GRCm39) S398C probably benign Het
Cyp2e1 T C 7: 140,344,827 (GRCm39) S98P probably damaging Het
Dock2 T A 11: 34,244,323 (GRCm39) I1036F probably damaging Het
Entpd7 T C 19: 43,710,255 (GRCm39) V304A probably benign Het
Entrep2 G A 7: 64,408,970 (GRCm39) H475Y probably damaging Het
Ergic3 A G 2: 155,859,736 (GRCm39) T346A probably damaging Het
F2 T C 2: 91,456,102 (GRCm39) D553G probably benign Het
Fam227a T A 15: 79,499,582 (GRCm39) Y591F possibly damaging Het
Gal3st1 T C 11: 3,948,282 (GRCm39) I163T probably benign Het
Gm10650 A G 3: 127,833,412 (GRCm39) noncoding transcript Het
Gm21850 G T 2: 153,900,248 (GRCm39) V202L probably benign Het
Hdc T A 2: 126,435,938 (GRCm39) E644D possibly damaging Het
Hypk G A 2: 121,287,773 (GRCm39) probably null Het
Kif21a G A 15: 90,869,565 (GRCm39) Q429* probably null Het
Mrgprb3 T C 7: 48,292,770 (GRCm39) I260M probably benign Het
Musk A T 4: 58,333,672 (GRCm39) I256F possibly damaging Het
Myl3 T C 9: 110,596,979 (GRCm39) L113P probably damaging Het
Myo5c A G 9: 75,180,888 (GRCm39) D759G probably benign Het
Nkx2-1 G A 12: 56,580,071 (GRCm39) Q290* probably null Het
Oaz3 T C 3: 94,341,846 (GRCm39) T130A probably benign Het
Or10j7 A G 1: 173,011,182 (GRCm39) I273T probably benign Het
Or4c3d A T 2: 89,882,569 (GRCm39) F33Y probably benign Het
Or7g16 A G 9: 18,727,021 (GRCm39) S190P probably damaging Het
Or8c13 T C 9: 38,091,442 (GRCm39) T226A probably benign Het
Pabpc2 G A 18: 39,908,123 (GRCm39) V463I probably benign Het
Piezo2 A T 18: 63,278,143 (GRCm39) C254S probably damaging Het
Plxnd1 C A 6: 115,941,105 (GRCm39) R1302L probably damaging Het
Pnpla7 T C 2: 24,941,610 (GRCm39) probably benign Het
Ppl G A 16: 4,906,845 (GRCm39) T1150I possibly damaging Het
Prkag2 G T 5: 25,113,362 (GRCm39) A113E probably benign Het
Proz A G 8: 13,113,356 (GRCm39) Y59C probably damaging Het
Prr5 T C 15: 84,586,981 (GRCm39) S244P probably benign Het
Sec14l5 A G 16: 4,994,345 (GRCm39) T380A probably damaging Het
Snw1 A G 12: 87,499,428 (GRCm39) V391A probably benign Het
Sp2 C T 11: 96,846,762 (GRCm39) C527Y probably damaging Het
Sspo A G 6: 48,425,606 (GRCm39) I76V probably damaging Het
Sspo C A 6: 48,477,437 (GRCm39) Q5123K probably benign Het
Tbc1d21 A C 9: 58,270,363 (GRCm39) N137K probably damaging Het
Tek G A 4: 94,699,573 (GRCm39) C317Y probably damaging Het
Tet3 T C 6: 83,346,453 (GRCm39) D1328G probably damaging Het
Topbp1 T A 9: 103,223,047 (GRCm39) I1377N probably damaging Het
Trmt9b T A 8: 36,979,707 (GRCm39) C437S probably damaging Het
Ttf2 A G 3: 100,865,260 (GRCm39) V544A probably damaging Het
Ttn A T 2: 76,774,497 (GRCm39) F2136L probably damaging Het
Ugt2b38 A G 5: 87,569,527 (GRCm39) F267L probably benign Het
Usb1 T G 8: 96,070,674 (GRCm39) L200R probably damaging Het
Vwa5a G A 9: 38,645,174 (GRCm39) G420R probably null Het
Vwa8 T C 14: 79,329,843 (GRCm39) probably null Het
Zfp708 A T 13: 67,219,036 (GRCm39) Y229* probably null Het
Zzef1 T A 11: 72,775,242 (GRCm39) M1745K probably damaging Het
Other mutations in Mgll
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03182:Mgll APN 6 88,800,173 (GRCm39) missense probably damaging 1.00
PIT4677001:Mgll UTSW 6 88,802,663 (GRCm39) missense possibly damaging 0.96
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
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'- AACACTTGGATGTGCCTGC -3'
(R):5'- GTAGTAGATCAGTGGCCAGTAG -3'

Sequencing Primer
(F):5'- ATGTGCCTGCCTGGTGAGC -3'
(R):5'- TTTTTGAGCCAGCCAGCAC -3'
Posted On 2014-10-15