Incidental Mutation 'R7759:Mtrr'
ID 597754
Institutional Source Beutler Lab
Gene Symbol Mtrr
Ensembl Gene ENSMUSG00000034617
Gene Name 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
Synonyms
MMRRC Submission 045815-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7759 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 68708899-68730268 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 68718146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 373 (E373K)
Ref Sequence ENSEMBL: ENSMUSP00000039810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045827] [ENSMUST00000223101] [ENSMUST00000223398]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000045827
AA Change: E373K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039810
Gene: ENSMUSG00000034617
AA Change: E373K

DomainStartEndE-ValueType
Pfam:Flavodoxin_5 5 126 2.7e-9 PFAM
Pfam:Flavodoxin_1 6 142 4.3e-32 PFAM
Pfam:FAD_binding_1 267 490 2.6e-51 PFAM
Pfam:NAD_binding_1 540 660 5.4e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220544
Predicted Effect probably benign
Transcript: ENSMUST00000223101
Predicted Effect probably damaging
Transcript: ENSMUST00000223398
AA Change: E373K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: Methionine is an essential amino acid required for protein synthesis and one-carbon metabolism. Its synthesis is catalyzed by the enzyme methionine synthase. Methionine synthase eventually becomes inactive due to the oxidation of its cob(I)alamin cofactor. The protein encoded by this gene regenerates a functional methionine synthase via reductive methylation. It is a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. Mutations in a similar gene in human have been associated with cblE complementation type homocystinuria-megaloblastic anemia and susceptibility to folate-sensitive neural tube defects. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2015]
PHENOTYPE: Mice homozygous for a hypomorphic gene trap allele are viable and display a male-specific reduction in postnatal weight gain as well as hyperhomocysteinemia, hypomethionemia, increased tissue methyltetrahydrofolate, and AdoMet/AdoHcy ratios that range from high to slightly below normal. [provided by MGI curators]
Allele List at MGI

All alleles(46) : Gene trapped(46)

Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik G T 16: 4,682,514 (GRCm39) G215V probably benign Het
Adamts1 C A 16: 85,594,683 (GRCm39) G652C probably damaging Het
Adck1 G A 12: 88,368,887 (GRCm39) A122T possibly damaging Het
Akap1 A C 11: 88,736,659 (GRCm39) M34R probably damaging Het
Apc2 C T 10: 80,147,030 (GRCm39) R695C probably damaging Het
Apon T A 10: 128,090,384 (GRCm39) W21R probably benign Het
Arhgef16 T C 4: 154,371,432 (GRCm39) T254A probably benign Het
Arid5b T A 10: 67,933,632 (GRCm39) S757C probably damaging Het
B020004C17Rik A C 14: 57,254,242 (GRCm39) I122L possibly damaging Het
Bckdhb T G 9: 83,892,379 (GRCm39) V270G probably damaging Het
Cacna1d A G 14: 29,821,145 (GRCm39) Y1146H probably benign Het
Carmil2 A G 8: 106,423,668 (GRCm39) D1214G possibly damaging Het
Ccdc142 T C 6: 83,084,912 (GRCm39) V636A probably benign Het
Chd9 T C 8: 91,704,178 (GRCm39) probably null Het
Csmd3 A G 15: 47,561,569 (GRCm39) S1336P Het
Cubn A G 2: 13,352,961 (GRCm39) Y1926H probably damaging Het
Dock4 A T 12: 40,867,735 (GRCm39) D1437V probably damaging Het
Eme1 A T 11: 94,536,666 (GRCm39) Y504* probably null Het
Enah G A 1: 181,746,009 (GRCm39) A687V unknown Het
Endou A C 15: 97,611,747 (GRCm39) V339G probably damaging Het
Ephb6 G A 6: 41,591,539 (GRCm39) R232H probably benign Het
Ephx2 G A 14: 66,326,968 (GRCm39) A409V possibly damaging Het
Esd T A 14: 74,983,007 (GRCm39) C219* probably null Het
Fscb A T 12: 64,520,866 (GRCm39) M200K probably benign Het
Gabra6 A T 11: 42,208,508 (GRCm39) V108D probably damaging Het
Gm11555 A G 11: 99,540,568 (GRCm39) V137A unknown Het
Gpld1 A G 13: 25,146,383 (GRCm39) D209G probably damaging Het
Ikzf1 T A 11: 11,719,256 (GRCm39) I408N probably damaging Het
Itgb4 A G 11: 115,894,536 (GRCm39) R1364G possibly damaging Het
Kif26b A C 1: 178,506,509 (GRCm39) K195T probably damaging Het
Mfsd12 T C 10: 81,199,427 (GRCm39) W440R probably benign Het
Mug2 T A 6: 122,058,317 (GRCm39) V1293E probably damaging Het
Myof C A 19: 37,928,346 (GRCm39) A1068S probably benign Het
Ncam2 A G 16: 81,412,672 (GRCm39) D720G probably damaging Het
Nova2 G T 7: 18,692,176 (GRCm39) G435V Het
Oacyl T A 18: 65,843,631 (GRCm39) D109E probably damaging Het
Or2y1g A T 11: 49,171,463 (GRCm39) M163L probably benign Het
Or56a4 G A 7: 104,806,232 (GRCm39) S219F probably damaging Het
Pdcd11 G A 19: 47,101,637 (GRCm39) V941M possibly damaging Het
Pdzd8 C A 19: 59,288,358 (GRCm39) R1014L probably damaging Het
Ppm1h T G 10: 122,740,018 (GRCm39) D364E probably benign Het
Rigi C A 4: 40,225,104 (GRCm39) A298S probably damaging Het
Rp1 T C 1: 4,415,107 (GRCm39) N2002D probably benign Het
Sall1 C T 8: 89,768,979 (GRCm39) probably null Het
Scn10a C T 9: 119,477,198 (GRCm39) W728* probably null Het
Setdb2 G T 14: 59,656,813 (GRCm39) T168K probably damaging Het
Sgms1 T C 19: 32,137,276 (GRCm39) I97V probably benign Het
Slc8a3 A T 12: 81,361,325 (GRCm39) M498K probably benign Het
Smpd4 A T 16: 17,456,497 (GRCm39) E362D probably damaging Het
Ssc5d A T 7: 4,940,529 (GRCm39) K881* probably null Het
Strn4 A G 7: 16,564,309 (GRCm39) E313G probably damaging Het
Tas2r113 A T 6: 132,870,890 (GRCm39) N306I possibly damaging Het
Tdrd6 G T 17: 43,935,730 (GRCm39) R1773S probably benign Het
Thbs2 T C 17: 14,897,321 (GRCm39) E729G probably damaging Het
Tnfrsf23 G A 7: 143,224,572 (GRCm39) T135I probably damaging Het
Tollip A G 7: 141,438,276 (GRCm39) M218T probably benign Het
Tyk2 A T 9: 21,031,554 (GRCm39) probably null Het
Ubr2 G A 17: 47,296,974 (GRCm39) R269C probably damaging Het
Uggt1 A T 1: 36,185,806 (GRCm39) M1459K possibly damaging Het
Upf1 A G 8: 70,786,730 (GRCm39) V929A probably benign Het
Usp48 T C 4: 137,321,763 (GRCm39) S24P probably benign Het
Vmn1r214 G A 13: 23,218,631 (GRCm39) E42K not run Het
Vmn1r83 G T 7: 12,055,360 (GRCm39) D232E probably benign Het
Vmn2r25 C T 6: 123,800,339 (GRCm39) V668I probably damaging Het
Vmn2r6 A G 3: 64,463,991 (GRCm39) I281T probably damaging Het
Ywhag A T 5: 135,940,043 (GRCm39) Y184N probably damaging Het
Zdbf2 A C 1: 63,347,535 (GRCm39) E1971D possibly damaging Het
Zfp568 G A 7: 29,722,839 (GRCm39) A595T possibly damaging Het
Zfy2 T C Y: 2,117,083 (GRCm39) D248G probably benign Het
Other mutations in Mtrr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01787:Mtrr APN 13 68,719,266 (GRCm39) missense probably damaging 1.00
IGL01806:Mtrr APN 13 68,728,719 (GRCm39) missense possibly damaging 0.92
IGL01808:Mtrr APN 13 68,714,212 (GRCm39) missense probably benign 0.00
IGL01875:Mtrr APN 13 68,720,728 (GRCm39) missense probably damaging 1.00
IGL02137:Mtrr APN 13 68,716,920 (GRCm39) missense possibly damaging 0.75
IGL02186:Mtrr APN 13 68,712,476 (GRCm39) missense probably benign
IGL03114:Mtrr APN 13 68,712,441 (GRCm39) nonsense probably null
3-1:Mtrr UTSW 13 68,723,135 (GRCm39) critical splice donor site probably null
H8562:Mtrr UTSW 13 68,712,496 (GRCm39) missense probably damaging 0.97
N/A:Mtrr UTSW 13 68,723,516 (GRCm39) splice site probably benign
R0007:Mtrr UTSW 13 68,723,449 (GRCm39) missense probably benign 0.02
R0741:Mtrr UTSW 13 68,727,658 (GRCm39) splice site probably null
R2140:Mtrr UTSW 13 68,717,059 (GRCm39) missense possibly damaging 0.47
R2513:Mtrr UTSW 13 68,715,092 (GRCm39) nonsense probably null
R4604:Mtrr UTSW 13 68,712,631 (GRCm39) splice site probably null
R5501:Mtrr UTSW 13 68,727,766 (GRCm39) missense probably damaging 1.00
R5658:Mtrr UTSW 13 68,717,034 (GRCm39) missense possibly damaging 0.67
R6477:Mtrr UTSW 13 68,718,192 (GRCm39) missense probably damaging 1.00
R6694:Mtrr UTSW 13 68,712,452 (GRCm39) missense probably benign
R6979:Mtrr UTSW 13 68,718,122 (GRCm39) critical splice donor site probably null
R7094:Mtrr UTSW 13 68,727,803 (GRCm39) missense possibly damaging 0.83
R7296:Mtrr UTSW 13 68,716,979 (GRCm39) nonsense probably null
R7354:Mtrr UTSW 13 68,714,326 (GRCm39) missense probably damaging 1.00
R7378:Mtrr UTSW 13 68,712,521 (GRCm39) missense probably damaging 1.00
R7546:Mtrr UTSW 13 68,730,268 (GRCm39) unclassified probably benign
R7562:Mtrr UTSW 13 68,714,336 (GRCm39) missense probably damaging 0.96
R7975:Mtrr UTSW 13 68,727,666 (GRCm39) splice site probably null
R8101:Mtrr UTSW 13 68,725,740 (GRCm39) missense probably damaging 1.00
R8168:Mtrr UTSW 13 68,720,732 (GRCm39) missense probably benign 0.00
R9097:Mtrr UTSW 13 68,723,441 (GRCm39) missense probably benign 0.28
R9260:Mtrr UTSW 13 68,728,674 (GRCm39) missense possibly damaging 0.70
R9295:Mtrr UTSW 13 68,719,258 (GRCm39) missense possibly damaging 0.94
R9516:Mtrr UTSW 13 68,720,755 (GRCm39) missense probably benign 0.00
R9517:Mtrr UTSW 13 68,728,730 (GRCm39) missense probably benign 0.06
R9627:Mtrr UTSW 13 68,725,756 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGCAGCAGTAACCAAGTGGC -3'
(R):5'- AGTCGCAGCTGGAACATTG -3'

Sequencing Primer
(F):5'- CCAAGTGGCACTGCACAGATG -3'
(R):5'- GCTGGAACATTGCCATAAGTC -3'
Posted On 2019-11-26