Incidental Mutation 'R4964:Treh'
ID 383800
Institutional Source Beutler Lab
Gene Symbol Treh
Ensembl Gene ENSMUSG00000032098
Gene Name trehalase (brush-border membrane glycoprotein)
Synonyms 2210412M19Rik
MMRRC Submission 042561-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.214) question?
Stock # R4964 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 44584530-44597602 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44593945 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 144 (L144P)
Ref Sequence ENSEMBL: ENSMUSP00000034609 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034609] [ENSMUST00000034611] [ENSMUST00000071219] [ENSMUST00000134465] [ENSMUST00000135436] [ENSMUST00000138356] [ENSMUST00000156918] [ENSMUST00000147495] [ENSMUST00000150822] [ENSMUST00000139389] [ENSMUST00000144251]
AlphaFold Q9JLT2
Predicted Effect probably damaging
Transcript: ENSMUST00000034609
AA Change: L144P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034609
Gene: ENSMUSG00000032098
AA Change: L144P

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 benign
Transcript: ENSMUST00000071219
SMART Domains Protein: ENSMUSP00000071206
Gene: ENSMUSG00000032098

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 noncoding transcript
Transcript: ENSMUST00000129806
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: 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: 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
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: ENSMUST00000150822
SMART Domains Protein: ENSMUSP00000123144
Gene: ENSMUSG00000032098

DomainStartEndE-ValueType
Pfam:Trehalase 1 121 3.1e-32 PFAM
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
Meta Mutation Damage Score 0.0915 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 98% (100/102)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,610,757 (GRCm39) probably benign Het
9030619P08Rik T A 15: 75,303,267 (GRCm39) noncoding transcript Het
A430033K04Rik G T 5: 138,645,119 (GRCm39) E335* probably null Het
Abcb1b A T 5: 8,862,671 (GRCm39) T118S probably benign Het
Abcb1b T A 5: 8,911,602 (GRCm39) I133N probably damaging Het
Acox3 A G 5: 35,747,080 (GRCm39) N166D probably damaging Het
Adam5 T C 8: 25,276,248 (GRCm39) Y473C probably damaging Het
Ankmy2 A G 12: 36,236,917 (GRCm39) K242E possibly damaging Het
Apc2 A C 10: 80,149,841 (GRCm39) I1603L probably benign Het
Arhgef25 T A 10: 127,021,472 (GRCm39) I249F probably damaging Het
Birc2 T C 9: 7,860,553 (GRCm39) H255R probably benign Het
Cables1 A T 18: 12,074,334 (GRCm39) R486W possibly damaging Het
Caskin1 A T 17: 24,726,135 (GRCm39) D1414V probably damaging Het
Ccdc175 A G 12: 72,227,619 (GRCm39) S55P probably damaging Het
Ccdc57 A T 11: 120,751,978 (GRCm39) S868T probably benign Het
Ccny A T 18: 9,449,516 (GRCm39) probably null Het
Cdc34b A T 11: 94,633,087 (GRCm39) I96F probably damaging Het
Ctnnd1 A G 2: 84,452,417 (GRCm39) F69L possibly damaging Het
Cul9 C T 17: 46,849,451 (GRCm39) D565N probably damaging Het
Cxcl16 A G 11: 70,346,519 (GRCm39) V208A probably benign Het
Cyb5rl A G 4: 106,926,329 (GRCm39) probably benign Het
Ddx18 T C 1: 121,493,823 (GRCm39) K54E probably benign Het
Ddx60 G A 8: 62,432,372 (GRCm39) V885I probably damaging Het
Dlg1 C T 16: 31,573,626 (GRCm39) T9I probably benign Het
Dnase1 T C 16: 3,855,771 (GRCm39) probably benign Het
Drd4 T C 7: 140,873,690 (GRCm39) M114T probably damaging Het
Egfr A T 11: 16,858,949 (GRCm39) D976V probably damaging Het
Eif2s1 T A 12: 78,926,785 (GRCm39) N178K probably benign Het
Exoc3l4 A G 12: 111,395,155 (GRCm39) H591R probably benign Het
Galntl6 T C 8: 59,152,945 (GRCm39) probably benign Het
Glipr1l2 T A 10: 111,942,904 (GRCm39) I253K possibly damaging Het
Gnat1 A T 9: 107,554,433 (GRCm39) M115K probably benign Het
Gtsf2 T C 15: 103,352,755 (GRCm39) E88G possibly damaging Het
Hormad1 T A 3: 95,492,531 (GRCm39) probably null Het
Hydin A T 8: 111,217,305 (GRCm39) I1398F possibly damaging Het
Ifnar1 T C 16: 91,301,974 (GRCm39) V483A probably benign Het
Ints11 T C 4: 155,971,385 (GRCm39) F278L probably damaging Het
Ints6 A G 14: 62,939,911 (GRCm39) L593P probably damaging Het
Krt7 C T 15: 101,311,853 (GRCm39) R104C probably damaging Het
Map4k1 A T 7: 28,682,427 (GRCm39) H16L probably benign Het
Mef2d T A 3: 88,075,404 (GRCm39) I422N probably damaging Het
Mipep G T 14: 61,022,231 (GRCm39) R32L probably damaging Het
Mon1a A G 9: 107,779,850 (GRCm39) E473G probably damaging Het
Mterf2 T A 10: 84,955,979 (GRCm39) Q215L probably damaging Het
Mybpc1 T A 10: 88,391,525 (GRCm39) Y324F probably benign Het
Myh11 T C 16: 14,023,818 (GRCm39) E1512G probably damaging Het
Myo1g A T 11: 6,465,976 (GRCm39) F370I probably damaging Het
Myo5c T A 9: 75,204,791 (GRCm39) M1548K possibly damaging Het
Myof T A 19: 37,924,300 (GRCm39) I1306F probably damaging Het
Nle1 A G 11: 82,799,018 (GRCm39) F21S probably damaging Het
Noc2l C G 4: 156,330,368 (GRCm39) D513E probably damaging Het
Or1e17 A T 11: 73,832,028 (GRCm39) I319F probably benign Het
Or2z2 A G 11: 58,346,733 (GRCm39) V14A probably benign Het
Orc1 T C 4: 108,471,670 (GRCm39) *841R probably null Het
Patz1 A G 11: 3,257,720 (GRCm39) D573G probably damaging Het
Pcdhga3 A G 18: 37,809,154 (GRCm39) T536A probably benign Het
Pde6h C T 6: 136,938,201 (GRCm39) T58I possibly damaging Het
Pip5k1a T C 3: 94,978,094 (GRCm39) I275V probably benign Het
Pkd1 T C 17: 24,805,042 (GRCm39) probably null Het
Polr1e G A 4: 45,029,429 (GRCm39) A297T probably damaging Het
Polrmt A G 10: 79,582,385 (GRCm39) M1T probably null Het
Rbm34 T C 8: 127,678,087 (GRCm39) D269G possibly damaging Het
Rnf122 T A 8: 31,602,177 (GRCm39) M1K probably null Het
Rnf32 G A 5: 29,403,576 (GRCm39) R7H probably benign Het
Ryr2 T C 13: 11,729,497 (GRCm39) E2375G possibly damaging Het
Ryr2 T C 13: 11,848,878 (GRCm39) T361A probably benign Het
Serpina3m T C 12: 104,355,360 (GRCm39) I9T probably benign Het
Serpinb9 T A 13: 33,192,847 (GRCm39) W135R probably damaging Het
Sf3b1 T C 1: 55,038,871 (GRCm39) N804S probably benign Het
Shroom1 A G 11: 53,355,999 (GRCm39) T350A probably benign Het
Slc24a5 G A 2: 124,910,188 (GRCm39) V30I probably benign Het
Slc38a8 A T 8: 120,209,423 (GRCm39) probably null Het
Smarcd1 A G 15: 99,605,862 (GRCm39) S378G possibly damaging Het
Stx1b T C 7: 127,407,093 (GRCm39) I55V probably damaging Het
Sult2a8 A G 7: 14,159,457 (GRCm39) V54A probably damaging Het
Tacc2 T C 7: 130,330,507 (GRCm39) S264P probably damaging Het
Tbc1d4 A T 14: 101,695,610 (GRCm39) Y943N probably damaging Het
Tlr5 T C 1: 182,801,038 (GRCm39) I114T probably benign Het
Tmco6 T C 18: 36,868,555 (GRCm39) probably null Het
Trmt2a T A 16: 18,067,418 (GRCm39) C30* probably null Het
Ttbk2 A T 2: 120,603,758 (GRCm39) F258L possibly damaging Het
Ttn T C 2: 76,785,380 (GRCm39) D665G probably damaging Het
Unc93b1 T C 19: 3,992,023 (GRCm39) probably null Het
Uroc1 T C 6: 90,322,376 (GRCm39) L300P probably damaging Het
Vps35l T C 7: 118,379,491 (GRCm39) I426T possibly damaging Het
Xbp1 A G 11: 5,471,125 (GRCm39) E44G probably damaging Het
Zfp451 A T 1: 33,816,942 (GRCm39) V119D probably damaging Het
Zfp457 T A 13: 67,441,342 (GRCm39) H315L probably damaging Het
Zfp518a T A 19: 40,904,295 (GRCm39) V1408D possibly damaging Het
Zfp52 T G 17: 21,780,665 (GRCm39) L171R probably benign Het
Zfp712 C T 13: 67,188,676 (GRCm39) C617Y probably damaging Het
Zfp770 T C 2: 114,027,868 (GRCm39) N67S probably benign 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
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
R9041:Treh UTSW 9 44,596,677 (GRCm39) missense probably damaging 1.00
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'- TTCAGCACACCACCCAGTTG -3'
(R):5'- TCCCATATTGGAGGGTGCTG -3'

Sequencing Primer
(F):5'- ACCCAGTTGAGCCAGGAG -3'
(R):5'- GTGCTGGTCCTGGATTTTCCAC -3'
Posted On 2016-04-27