Incidental Mutation 'R5658:Mtrr'
ID 443943
Institutional Source Beutler Lab
Gene Symbol Mtrr
Ensembl Gene ENSMUSG00000034617
Gene Name 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
Synonyms
MMRRC Submission 043172-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5658 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 68708899-68730268 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 68717034 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 393 (A393D)
Ref Sequence ENSEMBL: ENSMUSP00000152387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045827] [ENSMUST00000223101] [ENSMUST00000223398]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000045827
AA Change: A393D

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000039810
Gene: ENSMUSG00000034617
AA Change: A393D

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 possibly damaging
Transcript: ENSMUST00000223398
AA Change: A393D

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522H14Rik A G 4: 109,362,644 (GRCm39) L221P probably damaging Het
Art2b A G 7: 101,229,569 (GRCm39) V110A probably damaging Het
Bccip A G 7: 133,319,349 (GRCm39) I147V possibly damaging Het
Bcl9l G T 9: 44,420,466 (GRCm39) G1254W probably damaging Het
Cep68 C T 11: 20,191,885 (GRCm39) probably null Het
Chst5 A G 8: 112,617,422 (GRCm39) V66A probably damaging Het
F5 C A 1: 164,019,907 (GRCm39) T794K probably damaging Het
Faf2 T C 13: 54,789,347 (GRCm39) V55A probably benign Het
Gm7535 T A 17: 18,131,582 (GRCm39) probably benign Het
Itpr3 T C 17: 27,326,852 (GRCm39) V1471A possibly damaging Het
Kbtbd4 T A 2: 90,736,423 (GRCm39) S145T probably benign Het
Kcnh3 C T 15: 99,139,957 (GRCm39) P948S possibly damaging Het
Kcnq1 G A 7: 142,917,432 (GRCm39) probably null Het
Kng2 T C 16: 22,815,770 (GRCm39) probably null Het
Krt9 A G 11: 100,081,593 (GRCm39) I312T probably damaging Het
Lactb2 T A 1: 13,697,642 (GRCm39) H254L probably benign Het
Lama5 A T 2: 179,850,069 (GRCm39) Y187* probably null Het
Ldc1 A G 4: 130,114,234 (GRCm39) V61A probably benign Het
Maf1 T C 15: 76,237,420 (GRCm39) V154A possibly damaging Het
Mlh1 A G 9: 111,076,448 (GRCm39) V303A probably damaging Het
Mrgprh A T 17: 13,096,646 (GRCm39) K295N possibly damaging Het
Myef2l C T 3: 10,153,837 (GRCm39) S202F probably damaging Het
Nebl A G 2: 17,353,663 (GRCm39) Y963H probably damaging Het
Ormdl1 T C 1: 53,348,093 (GRCm39) V145A probably damaging Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Pmpcb A G 5: 21,943,999 (GRCm39) T78A probably damaging Het
Ptprz1 G A 6: 23,016,188 (GRCm39) R1677Q probably damaging Het
Rad54l2 ACCTCCTCCTCCTCCTCCTCCTCCTC ACCTCCTCCTCCTCCTCCTCCTC 9: 106,631,191 (GRCm39) probably benign Het
Ryr1 A T 7: 28,790,514 (GRCm39) probably null Het
Sh3bp2 T A 5: 34,714,291 (GRCm39) I162N probably damaging Het
Slc38a10 C T 11: 119,996,218 (GRCm39) A960T probably benign Het
Sntb1 C T 15: 55,655,472 (GRCm39) C248Y probably damaging Het
Sowahc G A 10: 59,059,049 (GRCm39) R395H possibly damaging Het
Tbc1d5 T C 17: 51,120,869 (GRCm39) R416G probably benign Het
Tnfaip6 A T 2: 51,941,047 (GRCm39) Y196F possibly damaging Het
Tpo A G 12: 30,105,137 (GRCm39) L911P possibly damaging Het
Try5 T C 6: 41,289,361 (GRCm39) R72G probably damaging Het
Vwa8 T C 14: 79,219,838 (GRCm39) probably null 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
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
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'- GGCTCACTAAAGTGCAGGAG -3'
(R):5'- TACTGCGATAGTCTTTGTACAGG -3'

Sequencing Primer
(F):5'- GTGACTCACCCAGCAGT -3'
(R):5'- GAGCTTGTTCTTTCTCATTTCTTTGG -3'
Posted On 2016-11-09