Incidental Mutation 'R9041:Treh'
ID 687730
Institutional Source Beutler Lab
Gene Symbol Treh
Ensembl Gene ENSMUSG00000032098
Gene Name trehalase (brush-border membrane glycoprotein)
Synonyms 2210412M19Rik
MMRRC Submission 068868-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.183) question?
Stock # R9041 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 44584530-44597602 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44596677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 512 (K512M)
Ref Sequence ENSEMBL: ENSMUSP00000034609 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034609] [ENSMUST00000034611] [ENSMUST00000071219] [ENSMUST00000134465] [ENSMUST00000135436] [ENSMUST00000138356] [ENSMUST00000139389] [ENSMUST00000144251] [ENSMUST00000147495] [ENSMUST00000150822] [ENSMUST00000156918]
AlphaFold Q9JLT2
Predicted Effect probably damaging
Transcript: ENSMUST00000034609
AA Change: K512M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034609
Gene: ENSMUSG00000032098
AA Change: K512M

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Trehalase 43 548 2.3e-185 PFAM
low complexity region 565 575 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000034611
SMART Domains Protein: ENSMUSP00000034611
Gene: ENSMUSG00000048537

DomainStartEndE-ValueType
PDB:2EH0|A 40 139 3e-10 PDB
Blast:FHA 63 110 6e-21 BLAST
low complexity region 181 192 N/A INTRINSIC
low complexity region 252 273 N/A INTRINSIC
low complexity region 296 316 N/A INTRINSIC
internal_repeat_1 321 354 5.01e-5 PROSPERO
internal_repeat_1 401 449 5.01e-5 PROSPERO
low complexity region 459 477 N/A INTRINSIC
low complexity region 590 617 N/A INTRINSIC
low complexity region 694 707 N/A INTRINSIC
coiled coil region 715 798 N/A INTRINSIC
low complexity region 819 829 N/A INTRINSIC
coiled coil region 865 904 N/A INTRINSIC
low complexity region 943 961 N/A INTRINSIC
low complexity region 976 997 N/A INTRINSIC
low complexity region 1055 1069 N/A INTRINSIC
low complexity region 1103 1111 N/A INTRINSIC
coiled coil region 1150 1219 N/A INTRINSIC
PH 1262 1366 1.31e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000071219
AA Change: K477M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071206
Gene: ENSMUSG00000032098
AA Change: K477M

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Trehalase 134 513 7e-145 PFAM
low complexity region 530 540 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128326
SMART Domains Protein: ENSMUSP00000119966
Gene: ENSMUSG00000048537

DomainStartEndE-ValueType
low complexity region 1 12 N/A INTRINSIC
low complexity region 83 110 N/A INTRINSIC
low complexity region 187 200 N/A INTRINSIC
coiled coil region 207 290 N/A INTRINSIC
low complexity region 312 322 N/A INTRINSIC
coiled coil region 357 396 N/A INTRINSIC
low complexity region 422 443 N/A INTRINSIC
low complexity region 493 506 N/A INTRINSIC
low complexity region 516 530 N/A INTRINSIC
low complexity region 564 572 N/A INTRINSIC
coiled coil region 610 679 N/A INTRINSIC
PH 723 827 1.31e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134465
SMART Domains Protein: ENSMUSP00000117395
Gene: ENSMUSG00000048537

DomainStartEndE-ValueType
PDB:2EH0|A 40 139 3e-10 PDB
Blast:FHA 63 110 8e-21 BLAST
low complexity region 181 192 N/A INTRINSIC
low complexity region 252 273 N/A INTRINSIC
low complexity region 296 316 N/A INTRINSIC
internal_repeat_1 321 354 6.75e-5 PROSPERO
internal_repeat_1 401 449 6.75e-5 PROSPERO
low complexity region 459 477 N/A INTRINSIC
low complexity region 590 617 N/A INTRINSIC
low complexity region 694 707 N/A INTRINSIC
coiled coil region 715 798 N/A INTRINSIC
low complexity region 819 829 N/A INTRINSIC
coiled coil region 865 904 N/A INTRINSIC
low complexity region 929 950 N/A INTRINSIC
low complexity region 1008 1022 N/A INTRINSIC
low complexity region 1056 1064 N/A INTRINSIC
coiled coil region 1103 1172 N/A INTRINSIC
PH 1215 1319 1.31e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135436
SMART Domains Protein: ENSMUSP00000120023
Gene: ENSMUSG00000048537

DomainStartEndE-ValueType
low complexity region 67 85 N/A INTRINSIC
low complexity region 100 121 N/A INTRINSIC
low complexity region 179 193 N/A INTRINSIC
low complexity region 227 235 N/A INTRINSIC
coiled coil region 274 343 N/A INTRINSIC
PH 386 490 1.31e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138356
SMART Domains Protein: ENSMUSP00000120208
Gene: ENSMUSG00000048537

DomainStartEndE-ValueType
PDB:2EH0|A 40 139 4e-10 PDB
Blast:FHA 63 110 6e-21 BLAST
low complexity region 181 192 N/A INTRINSIC
low complexity region 252 273 N/A INTRINSIC
low complexity region 296 316 N/A INTRINSIC
internal_repeat_1 321 354 4.93e-5 PROSPERO
internal_repeat_1 401 449 4.93e-5 PROSPERO
low complexity region 459 477 N/A INTRINSIC
low complexity region 590 617 N/A INTRINSIC
low complexity region 694 707 N/A INTRINSIC
coiled coil region 715 798 N/A INTRINSIC
low complexity region 819 829 N/A INTRINSIC
coiled coil region 865 904 N/A INTRINSIC
low complexity region 931 948 N/A INTRINSIC
low complexity region 999 1017 N/A INTRINSIC
low complexity region 1032 1053 N/A INTRINSIC
low complexity region 1111 1125 N/A INTRINSIC
low complexity region 1159 1167 N/A INTRINSIC
coiled coil region 1206 1286 N/A INTRINSIC
PH 1329 1444 6.01e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139389
SMART Domains Protein: ENSMUSP00000120671
Gene: ENSMUSG00000032098

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Trehalase 43 141 1.3e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144251
SMART Domains Protein: ENSMUSP00000114773
Gene: ENSMUSG00000048537

DomainStartEndE-ValueType
low complexity region 11 24 N/A INTRINSIC
coiled coil region 32 115 N/A INTRINSIC
coiled coil region 146 174 N/A INTRINSIC
low complexity region 179 189 N/A INTRINSIC
coiled coil region 225 264 N/A INTRINSIC
low complexity region 289 310 N/A INTRINSIC
low complexity region 368 382 N/A INTRINSIC
low complexity region 416 424 N/A INTRINSIC
coiled coil region 463 532 N/A INTRINSIC
PH 575 679 1.31e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000147495
SMART Domains Protein: ENSMUSP00000122661
Gene: ENSMUSG00000048537

DomainStartEndE-ValueType
PDB:2EH0|A 40 139 4e-10 PDB
Blast:FHA 63 110 6e-21 BLAST
low complexity region 181 192 N/A INTRINSIC
low complexity region 252 273 N/A INTRINSIC
low complexity region 296 316 N/A INTRINSIC
internal_repeat_1 321 354 5e-5 PROSPERO
internal_repeat_1 401 449 5e-5 PROSPERO
low complexity region 459 477 N/A INTRINSIC
low complexity region 590 617 N/A INTRINSIC
low complexity region 694 707 N/A INTRINSIC
coiled coil region 715 798 N/A INTRINSIC
low complexity region 819 829 N/A INTRINSIC
coiled coil region 865 904 N/A INTRINSIC
low complexity region 943 961 N/A INTRINSIC
low complexity region 976 997 N/A INTRINSIC
low complexity region 1055 1069 N/A INTRINSIC
low complexity region 1103 1111 N/A INTRINSIC
coiled coil region 1150 1219 N/A INTRINSIC
PH 1262 1377 6.01e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148344
SMART Domains Protein: ENSMUSP00000121809
Gene: ENSMUSG00000048537

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
low complexity region 41 61 N/A INTRINSIC
internal_repeat_1 66 99 6.7e-6 PROSPERO
internal_repeat_1 146 194 6.7e-6 PROSPERO
low complexity region 204 222 N/A INTRINSIC
low complexity region 335 362 N/A INTRINSIC
low complexity region 439 452 N/A INTRINSIC
coiled coil region 459 542 N/A INTRINSIC
low complexity region 564 574 N/A INTRINSIC
coiled coil region 609 648 N/A INTRINSIC
low complexity region 688 706 N/A INTRINSIC
low complexity region 721 742 N/A INTRINSIC
low complexity region 792 805 N/A INTRINSIC
low complexity region 815 829 N/A INTRINSIC
low complexity region 863 871 N/A INTRINSIC
coiled coil region 909 978 N/A INTRINSIC
PH 1022 1126 1.31e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150822
SMART Domains Protein: ENSMUSP00000123144
Gene: ENSMUSG00000032098

DomainStartEndE-ValueType
Pfam:Trehalase 1 121 3.1e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156918
SMART Domains Protein: ENSMUSP00000120092
Gene: ENSMUSG00000048537

DomainStartEndE-ValueType
low complexity region 11 24 N/A INTRINSIC
coiled coil region 32 115 N/A INTRINSIC
low complexity region 136 146 N/A INTRINSIC
coiled coil region 182 221 N/A INTRINSIC
low complexity region 246 267 N/A INTRINSIC
low complexity region 325 339 N/A INTRINSIC
low complexity region 373 381 N/A INTRINSIC
coiled coil region 420 489 N/A INTRINSIC
PH 532 636 1.31e-17 SMART
Meta Mutation Damage Score 0.8417 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (60/60)
MGI Phenotype FUNCTION: This gene belongs to the alpha-glucosidase family, whose members encode enzymes that carry out hydrolysis of alpha-glucoside bonds of a variety of carbohydrates. The enzyme encoded by this gene uses the disaccharide trehalose as a highly specific substrate and converts it into two glucose molecules. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2013]
PHENOTYPE: Mice homozygous for a knock-out allele fail to exhibit a rapid increase in blood glucose levels following oral trehalose administration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,062,054 (GRCm39) I168T probably benign Het
Acvr2b G T 9: 119,257,052 (GRCm39) E94* probably null Het
Adcy8 A T 15: 64,609,287 (GRCm39) I874N probably benign Het
Ahcyl T G 16: 45,974,468 (GRCm39) D303A possibly damaging Het
Angptl1 G T 1: 156,685,999 (GRCm39) D362Y probably damaging Het
Arc A G 15: 74,543,896 (GRCm39) V109A probably damaging Het
Asphd2 T A 5: 112,539,768 (GRCm39) T22S probably benign Het
Caprin2 A T 6: 148,771,030 (GRCm39) N321K probably benign Het
Carmil1 T C 13: 24,282,793 (GRCm39) D547G possibly damaging Het
Cd38 G A 5: 44,058,899 (GRCm39) probably null Het
Cd3g A G 9: 44,884,818 (GRCm39) V142A possibly damaging Het
Chrna6 A T 8: 27,896,923 (GRCm39) I318N probably damaging Het
Cmah T C 13: 24,641,004 (GRCm39) probably null Het
Cmklr1 G C 5: 113,752,043 (GRCm39) H319Q probably benign Het
Cplx4 T C 18: 66,103,097 (GRCm39) M8V probably damaging Het
Dnajc19 T C 3: 34,134,282 (GRCm39) K27R probably damaging Het
E2f3 C A 13: 30,093,939 (GRCm39) D441Y probably damaging Het
Erap1 A G 13: 74,822,818 (GRCm39) K777R probably benign Het
Fastkd1 C T 2: 69,532,715 (GRCm39) V551I probably benign Het
Fgd5 A G 6: 91,964,427 (GRCm39) E220G probably benign Het
Gal3st2 T C 1: 93,800,206 (GRCm39) V19A possibly damaging Het
Ghr T C 15: 3,357,530 (GRCm39) E246G probably benign Het
Gm10228 A T 16: 88,838,113 (GRCm39) Y64N unknown Het
Gsdmc4 T C 15: 63,774,586 (GRCm39) N65S probably benign Het
Heatr5b C A 17: 79,103,861 (GRCm39) A1105S probably benign Het
Hipk2 A T 6: 38,724,909 (GRCm39) L376* probably null Het
Il6st A G 13: 112,611,631 (GRCm39) T18A probably benign Het
Kif3b T C 2: 153,159,468 (GRCm39) I423T probably benign Het
Klf17 T C 4: 117,617,556 (GRCm39) Y267C probably damaging Het
Kntc1 A G 5: 123,927,093 (GRCm39) T1183A probably benign Het
Lrrc71 A G 3: 87,650,660 (GRCm39) S201P probably damaging Het
Mrgprb5 A T 7: 47,818,509 (GRCm39) D75E probably damaging Het
Myef2l T C 3: 10,157,353 (GRCm39) *499Q probably null Het
Myf6 A G 10: 107,329,225 (GRCm39) V240A probably benign Het
Ncoa6 T C 2: 155,257,450 (GRCm39) M698V possibly damaging Het
Nox4 G A 7: 87,025,448 (GRCm39) R525Q probably benign Het
Nynrin T C 14: 56,108,753 (GRCm39) S1287P possibly damaging Het
Or10ab5 A G 7: 108,245,589 (GRCm39) S65P probably damaging Het
Otud4 T A 8: 80,400,441 (GRCm39) S1052T probably damaging Het
Pcsk5 A T 19: 17,538,132 (GRCm39) C898* probably null Het
Pdcd1 T C 1: 93,969,091 (GRCm39) T76A probably benign Het
Plin2 T A 4: 86,578,504 (GRCm39) M198L probably benign Het
Prmt7 T A 8: 106,963,460 (GRCm39) V180D possibly damaging Het
R3hdm2 T C 10: 127,320,405 (GRCm39) Y549H probably damaging Het
Rad54l2 A G 9: 106,600,018 (GRCm39) S80P possibly damaging Het
Ryr3 T A 2: 112,787,546 (GRCm39) E235D probably damaging Het
Scart1 T C 7: 139,808,503 (GRCm39) C805R probably damaging Het
Serpina9 A T 12: 103,967,737 (GRCm39) S219R Het
Sesn2 G A 4: 132,225,272 (GRCm39) T298I probably benign Het
Sf3b2 A T 19: 5,324,872 (GRCm39) V838E possibly damaging Het
Sfpq C A 4: 126,915,296 (GRCm39) H29Q unknown Het
Smchd1 A G 17: 71,701,710 (GRCm39) probably null Het
Sprr1b A G 3: 92,344,477 (GRCm39) V133A probably benign Het
Srgap3 T C 6: 112,754,054 (GRCm39) Y243C probably damaging Het
Thop1 C T 10: 80,917,228 (GRCm39) A577V possibly damaging Het
Tmprss3 T A 17: 31,410,014 (GRCm39) D200V probably benign Het
Trip11 A G 12: 101,845,127 (GRCm39) V1537A probably benign Het
Trp63 A G 16: 25,582,083 (GRCm39) T44A probably benign Het
Vmn1r225 T A 17: 20,722,577 (GRCm39) M6K possibly damaging Het
Vmn2r90 A C 17: 17,954,286 (GRCm39) M817L probably benign Het
Zfp68 A T 5: 138,604,699 (GRCm39) Y541* probably null Het
Other mutations in Treh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Treh APN 9 44,595,197 (GRCm39) missense probably damaging 1.00
IGL00984:Treh APN 9 44,594,264 (GRCm39) unclassified probably benign
IGL02111:Treh APN 9 44,594,258 (GRCm39) missense probably benign 0.02
IGL02493:Treh APN 9 44,594,246 (GRCm39) missense possibly damaging 0.92
IGL03242:Treh APN 9 44,596,634 (GRCm39) missense possibly damaging 0.51
IGL03392:Treh APN 9 44,597,228 (GRCm39) missense probably damaging 0.96
delight UTSW 9 44,592,823 (GRCm39) missense probably damaging 1.00
trixie UTSW 9 44,594,910 (GRCm39) missense probably benign 0.27
R0041:Treh UTSW 9 44,594,910 (GRCm39) missense probably benign 0.27
R1391:Treh UTSW 9 44,596,602 (GRCm39) missense probably benign 0.02
R2099:Treh UTSW 9 44,595,943 (GRCm39) missense probably damaging 1.00
R2142:Treh UTSW 9 44,592,438 (GRCm39) missense probably damaging 1.00
R3936:Treh UTSW 9 44,595,840 (GRCm39) missense probably benign 0.02
R4577:Treh UTSW 9 44,597,208 (GRCm39) missense probably benign 0.11
R4715:Treh UTSW 9 44,594,615 (GRCm39) missense probably benign 0.44
R4735:Treh UTSW 9 44,592,849 (GRCm39) missense probably damaging 1.00
R4964:Treh UTSW 9 44,593,945 (GRCm39) missense probably damaging 0.99
R5028:Treh UTSW 9 44,594,186 (GRCm39) missense probably null 0.96
R5214:Treh UTSW 9 44,594,173 (GRCm39) missense probably damaging 1.00
R5645:Treh UTSW 9 44,593,975 (GRCm39) missense probably damaging 0.99
R7311:Treh UTSW 9 44,597,245 (GRCm39) missense probably benign
R7892:Treh UTSW 9 44,596,015 (GRCm39) missense probably damaging 1.00
R7944:Treh UTSW 9 44,592,584 (GRCm39) missense probably damaging 1.00
R7945:Treh UTSW 9 44,592,584 (GRCm39) missense probably damaging 1.00
R8338:Treh UTSW 9 44,595,808 (GRCm39) missense probably benign 0.27
R8818:Treh UTSW 9 44,592,823 (GRCm39) missense probably damaging 1.00
R8884:Treh UTSW 9 44,595,800 (GRCm39) unclassified probably benign
R9311:Treh UTSW 9 44,592,655 (GRCm39) missense probably benign 0.39
R9489:Treh UTSW 9 44,592,416 (GRCm39) missense probably damaging 1.00
R9605:Treh UTSW 9 44,592,416 (GRCm39) missense probably damaging 1.00
R9701:Treh UTSW 9 44,594,648 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCACAGGTTCAGAAAGGAGATC -3'
(R):5'- CAAAAGATGTGCCGAGCTGC -3'

Sequencing Primer
(F):5'- AGATCTGAGGGCCTAGATCTTC -3'
(R):5'- TGCTGCTCAGACCCCTG -3'
Posted On 2021-11-19