Incidental Mutation 'R4604:Mtrr'
ID 345919
Institutional Source Beutler Lab
Gene Symbol Mtrr
Ensembl Gene ENSMUSG00000034617
Gene Name 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
Synonyms
MMRRC Submission 041816-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4604 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 68708899-68730268 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 68712631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045827] [ENSMUST00000223101] [ENSMUST00000223398]
AlphaFold no structure available at present
Predicted Effect probably null
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 null
Transcript: ENSMUST00000220544
Predicted Effect probably benign
Transcript: ENSMUST00000223101
Predicted Effect probably null
Transcript: ENSMUST00000223398
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930518I15Rik C T 2: 156,699,074 (GRCm39) probably benign Het
Abcb6 G A 1: 75,156,521 (GRCm39) T81I probably benign Het
Acp6 A G 3: 97,083,075 (GRCm39) K362R probably benign Het
Adam26a A G 8: 44,023,088 (GRCm39) M134T probably benign Het
Ankrd27 C T 7: 35,327,915 (GRCm39) P812S probably damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Atp2a1 G A 7: 126,047,795 (GRCm39) R672C probably damaging Het
Atxn2 G T 5: 121,919,406 (GRCm39) W371C probably damaging Het
B3gnt2 T TTCACAAA 11: 22,786,426 (GRCm39) probably null Het
Btnl6 T A 17: 34,727,435 (GRCm39) D365V possibly damaging Het
Ccdc80 T A 16: 44,915,928 (GRCm39) L228Q probably damaging Het
Cdc42bpa A G 1: 179,936,759 (GRCm39) H718R probably benign Het
Cdh18 A G 15: 23,474,454 (GRCm39) K775E probably benign Het
Cdh23 T G 10: 60,173,445 (GRCm39) N1679T possibly damaging Het
Cep192 T A 18: 67,948,993 (GRCm39) D271E possibly damaging Het
Cfap70 G T 14: 20,493,729 (GRCm39) T124K probably benign Het
Ckap5 A T 2: 91,408,476 (GRCm39) E890D probably benign Het
Col22a1 G T 15: 71,824,188 (GRCm39) P569T probably benign Het
Colq A T 14: 31,267,060 (GRCm39) L150Q possibly damaging Het
Csf1 T C 3: 107,664,278 (GRCm39) probably null Het
Csmd3 A T 15: 47,868,211 (GRCm39) S770T possibly damaging Het
Cul9 C A 17: 46,841,072 (GRCm39) V733L probably damaging Het
Cyp2c55 A G 19: 39,019,830 (GRCm39) D256G possibly damaging Het
Dclk3 A T 9: 111,298,253 (GRCm39) D599V probably damaging Het
Defb26 T A 2: 152,350,104 (GRCm39) I59F possibly damaging Het
Dnah6 A G 6: 73,106,643 (GRCm39) V1646A possibly damaging Het
Dnm2 T C 9: 21,415,960 (GRCm39) probably null Het
Dock6 A G 9: 21,713,836 (GRCm39) L1867P probably damaging Het
Dock9 G T 14: 121,905,871 (GRCm39) T93K probably damaging Het
Dync2h1 T C 9: 7,140,995 (GRCm39) H1344R probably benign Het
Enam A C 5: 88,652,142 (GRCm39) Q1217P possibly damaging Het
Fbf1 A T 11: 116,049,748 (GRCm39) D91E possibly damaging Het
Fbxo7 T G 10: 85,882,666 (GRCm39) W393G probably damaging Het
Gab2 A G 7: 96,953,420 (GRCm39) T599A probably damaging Het
Gfy T A 7: 44,826,612 (GRCm39) I409F possibly damaging Het
Gm19345 T A 7: 19,591,433 (GRCm39) probably null Het
Gm4787 A G 12: 81,425,987 (GRCm39) M57T probably benign Het
Gper1 A G 5: 139,412,480 (GRCm39) E275G probably damaging Het
Grik4 T C 9: 42,435,882 (GRCm39) E803G probably damaging Het
Gstm3 G A 3: 107,875,513 (GRCm39) P39L possibly damaging Het
Hax1 A T 3: 89,904,767 (GRCm39) V142D probably damaging Het
Hcn3 A T 3: 89,057,747 (GRCm39) I383N probably damaging Het
Hdac10 C A 15: 89,009,600 (GRCm39) probably null Het
Hipk3 A C 2: 104,269,674 (GRCm39) M505R probably damaging Het
Hivep1 C T 13: 42,313,225 (GRCm39) P1822S probably benign Het
Hsd17b13 G T 5: 104,104,124 (GRCm39) H281N unknown Het
Ilrun T C 17: 28,039,289 (GRCm39) D7G probably damaging Het
Irak2 T A 6: 113,649,848 (GRCm39) I222N probably damaging Het
Kalrn G A 16: 34,334,296 (GRCm39) L7F possibly damaging Het
Kcnma1 A G 14: 23,359,106 (GRCm39) probably null Het
Kcnn3 G T 3: 89,427,727 (GRCm39) probably benign Het
Lamb1 A C 12: 31,328,775 (GRCm39) D218A probably damaging Het
Lrrtm1 A T 6: 77,221,127 (GRCm39) N195Y probably damaging Het
Ltf A T 9: 110,851,409 (GRCm39) N72I probably damaging Het
Mcm4 A G 16: 15,447,527 (GRCm39) I479T probably damaging Het
Mfhas1 T C 8: 36,055,764 (GRCm39) S80P probably benign Het
Mknk1 A G 4: 115,735,224 (GRCm39) E364G probably damaging Het
Msh4 C T 3: 153,577,920 (GRCm39) C458Y probably damaging Het
Myo1a T C 10: 127,547,007 (GRCm39) W356R probably damaging Het
Nbea A G 3: 55,631,069 (GRCm39) V2186A probably benign Het
Nfe2l3 T C 6: 51,427,992 (GRCm39) S185P probably damaging Het
Nhsl1 A C 10: 18,407,158 (GRCm39) K1397Q probably damaging Het
Nmbr C T 10: 14,645,908 (GRCm39) R261W probably damaging Het
Npy2r A G 3: 82,448,365 (GRCm39) S137P probably damaging Het
Obscn C T 11: 58,971,031 (GRCm39) G2494D probably damaging Het
Obscn T C 11: 59,013,572 (GRCm39) K1092E probably damaging Het
Oosp2 A C 19: 11,627,047 (GRCm39) I92S probably benign Het
Or5ar1 C T 2: 85,671,526 (GRCm39) C203Y probably damaging Het
Pcdh9 T C 14: 94,124,616 (GRCm39) D518G probably damaging Het
Pde11a G T 2: 76,168,137 (GRCm39) T272K possibly damaging Het
Plekha2 T A 8: 25,549,851 (GRCm39) Q162L probably null Het
Prkag2 T A 5: 25,083,732 (GRCm39) I84F probably damaging Het
Prm2 G T 16: 10,609,613 (GRCm39) probably benign Het
Prpf40a A T 2: 53,032,035 (GRCm39) C800S probably damaging Het
Prr5l A T 2: 101,559,793 (GRCm39) C158S probably benign Het
Prrt3 C A 6: 113,475,198 (GRCm39) C8F possibly damaging Het
Psg25 T C 7: 18,263,728 (GRCm39) T32A probably benign Het
Ruvbl1 T C 6: 88,462,887 (GRCm39) V337A probably benign Het
Sall1 T A 8: 89,756,969 (GRCm39) Q1045L probably damaging Het
Sec22c T C 9: 121,524,708 (GRCm39) Y25C probably damaging Het
Serpina3i A T 12: 104,234,036 (GRCm39) T335S possibly damaging Het
Setd1b TCCACCACCACCACCACCACCACCA TCCACCACCACCACCACCACCA 5: 123,290,137 (GRCm39) probably benign Het
Slc12a8 T A 16: 33,428,529 (GRCm39) I279N probably damaging Het
Slc15a1 G A 14: 121,727,319 (GRCm39) T83I probably damaging Het
Slc22a3 A G 17: 12,678,658 (GRCm39) F222S probably benign Het
Sorcs3 A T 19: 48,682,353 (GRCm39) T463S probably benign Het
Spsb4 C A 9: 96,877,931 (GRCm39) A131S probably benign Het
Sting1 T A 18: 35,871,743 (GRCm39) I170F probably damaging Het
Syne2 A G 12: 76,014,484 (GRCm39) E3225G probably damaging Het
Tchp G A 5: 114,857,634 (GRCm39) probably null Het
Tekt4 T A 17: 25,690,749 (GRCm39) D18E probably benign Het
Timm50 A G 7: 28,010,443 (GRCm39) V37A probably benign Het
Tlx2 A C 6: 83,045,741 (GRCm39) *285G probably null Het
Tshz1 C A 18: 84,031,499 (GRCm39) D970Y probably damaging Het
Ttn A T 2: 76,700,805 (GRCm39) V50E probably damaging Het
Txndc17 T A 11: 72,100,274 (GRCm39) S113T probably benign Het
Tyk2 T C 9: 21,019,305 (GRCm39) Y1039C probably damaging Het
Ubqln3 A G 7: 103,791,698 (GRCm39) S131P probably benign Het
Uncx A T 5: 139,529,837 (GRCm39) H30L possibly damaging Het
Usp25 T A 16: 76,912,303 (GRCm39) D1007E probably damaging Het
Usp47 T C 7: 111,701,038 (GRCm39) V1083A probably damaging Het
Wdr24 T A 17: 26,047,479 (GRCm39) H765Q probably damaging Het
Wrnip1 A G 13: 32,986,330 (GRCm39) D37G probably damaging Het
Xpo6 T C 7: 125,712,924 (GRCm39) T686A possibly damaging Het
Zfp941 G A 7: 140,392,124 (GRCm39) R412C probably damaging Het
Znrf2 T A 6: 54,855,425 (GRCm39) C71* 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
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
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'- ACGTAGCCATTCTCCTGAAGG -3'
(R):5'- AGCCTAGGGTCAGTCTGTAG -3'

Sequencing Primer
(F):5'- GAGGGTCCTGGCCACCTG -3'
(R):5'- CTGTAGTGCTGTAACATGAAAACCC -3'
Posted On 2015-09-25