Incidental Mutation 'R7546:Mtrr'
ID 628151
Institutional Source Beutler Lab
Gene Symbol Mtrr
Ensembl Gene ENSMUSG00000034617
Gene Name 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
Synonyms
MMRRC Submission 045617-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7546 (G1)
Quality Score 83.0076
Status Validated
Chromosome 13
Chromosomal Location 68708899-68730268 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 68730268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045827] [ENSMUST00000051784] [ENSMUST00000220973] [ENSMUST00000221259] [ENSMUST00000222107] [ENSMUST00000222631] [ENSMUST00000222660] [ENSMUST00000223101] [ENSMUST00000223187] [ENSMUST00000223319] [ENSMUST00000223398]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000045827
SMART Domains Protein: ENSMUSP00000039810
Gene: ENSMUSG00000034617

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: ENSMUST00000051784
SMART Domains Protein: ENSMUSP00000061737
Gene: ENSMUSG00000021532

DomainStartEndE-ValueType
low complexity region 178 189 N/A INTRINSIC
Pfam:FAST_1 410 478 2.9e-22 PFAM
Pfam:FAST_2 491 581 3.1e-28 PFAM
RAP 594 651 7.58e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000220973
Predicted Effect probably benign
Transcript: ENSMUST00000221259
Predicted Effect probably benign
Transcript: ENSMUST00000222107
Predicted Effect probably benign
Transcript: ENSMUST00000222631
Predicted Effect probably benign
Transcript: ENSMUST00000222660
Predicted Effect probably benign
Transcript: ENSMUST00000222685
Predicted Effect probably benign
Transcript: ENSMUST00000223101
Predicted Effect probably benign
Transcript: ENSMUST00000223187
Predicted Effect probably benign
Transcript: ENSMUST00000223319
Predicted Effect probably benign
Transcript: ENSMUST00000223398
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (40/40)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik A G 17: 48,348,330 (GRCm39) S36P probably benign Het
A530084C06Rik G T 13: 31,742,978 (GRCm39) R92S unknown Het
Ampd1 A G 3: 103,003,028 (GRCm39) T582A probably benign Het
Ank1 A C 8: 23,555,011 (GRCm39) N57T probably damaging Het
Atxn3 A G 12: 101,914,261 (GRCm39) probably null Het
Bace2 G A 16: 97,200,882 (GRCm39) A117T probably benign Het
Bcl2l15 A G 3: 103,740,203 (GRCm39) N19S probably benign Het
Bid C A 6: 120,877,112 (GRCm39) probably null Het
Cadps2 A T 6: 23,626,607 (GRCm39) M227K probably benign Het
Clip4 G A 17: 72,135,697 (GRCm39) C483Y possibly damaging Het
Dennd4a A G 9: 64,780,326 (GRCm39) T621A probably damaging Het
E2f3 G A 13: 30,094,112 (GRCm39) S383L probably damaging Het
F2r C T 13: 95,754,858 (GRCm39) V9I probably benign Het
Gm14226 T C 2: 154,867,131 (GRCm39) S363P probably damaging Het
Gstm5 T C 3: 107,804,610 (GRCm39) Y65H probably damaging Het
H2bc13 A G 13: 21,900,040 (GRCm39) S92P probably benign Het
H60c A G 10: 3,209,907 (GRCm39) W127R probably damaging Het
Itgav G T 2: 83,606,894 (GRCm39) G448* probably null Het
Klrh1 T C 6: 129,749,343 (GRCm39) H84R probably benign Het
Lhx6 C T 2: 35,993,357 (GRCm39) probably null Het
Manba T A 3: 135,276,007 (GRCm39) V816D probably benign Het
Marchf10 G A 11: 105,280,906 (GRCm39) P460S not run Het
Mmp17 T A 5: 129,673,653 (GRCm39) V244E probably damaging Het
Nup160 T C 2: 90,515,402 (GRCm39) I170T probably damaging Het
Or4c12b A G 2: 89,647,363 (GRCm39) N225S probably benign Het
Or4c12b A T 2: 89,647,538 (GRCm39) L283F probably damaging Het
Or51e1 T C 7: 102,358,996 (GRCm39) S177P probably damaging Het
Pappa G A 4: 65,074,352 (GRCm39) S302N possibly damaging Het
Plekhj1 G A 10: 80,633,748 (GRCm39) A53V possibly damaging Het
Pramel46 T A 5: 95,418,171 (GRCm39) H275L possibly damaging Het
Pramel48 C T 5: 95,630,539 (GRCm39) R139C probably benign Het
Prpf8 T C 11: 75,399,200 (GRCm39) V2157A probably damaging Het
Rps8 G A 4: 117,011,104 (GRCm39) R200W probably damaging Het
Sesn2 A G 4: 132,227,154 (GRCm39) F93L probably damaging Het
Skic3 C A 13: 76,282,954 (GRCm39) L759M probably damaging Het
Slf1 A G 13: 77,197,311 (GRCm39) S768P probably benign Het
Stat4 A G 1: 52,137,622 (GRCm39) N471S probably damaging Het
Trcg1 T C 9: 57,155,621 (GRCm39) L758P probably benign Het
Trim35 A G 14: 66,540,696 (GRCm39) T183A probably benign Het
Ttr C A 18: 20,803,102 (GRCm39) Y89* probably null Het
Zfp90 C A 8: 107,151,323 (GRCm39) H345Q probably benign Het
Zmym4 A G 4: 126,757,961 (GRCm39) V1531A probably damaging 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
R7562:Mtrr UTSW 13 68,714,336 (GRCm39) missense probably damaging 0.96
R7759:Mtrr UTSW 13 68,718,146 (GRCm39) missense probably damaging 1.00
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'- TCACGAGGTTTTGGGAAAGG -3'
(R):5'- ATCCCGAGACACTTACCGAG -3'

Sequencing Primer
(F):5'- AAGTGCTCCCCGTGAACC -3'
(R):5'- AGACACTTACCGAGCGGCTC -3'
Posted On 2020-01-24