Incidental Mutation 'R4801:Mtr'
ID 472892
Institutional Source Beutler Lab
Gene Symbol Mtr
Ensembl Gene ENSMUSG00000021311
Gene Name 5-methyltetrahydrofolate-homocysteine methyltransferase
Synonyms methionine synthase, D830038K18Rik, MS
MMRRC Submission 042423-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4801 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 12197598-12272999 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 12210137 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 986 (N986K)
Ref Sequence ENSEMBL: ENSMUSP00000097442 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099856]
AlphaFold A6H5Y3
Predicted Effect probably benign
Transcript: ENSMUST00000099856
AA Change: N986K

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000097442
Gene: ENSMUSG00000021311
AA Change: N986K

DomainStartEndE-ValueType
Pfam:S-methyl_trans 18 326 1.5e-93 PFAM
Pfam:Pterin_bind 363 601 4.6e-63 PFAM
B12-binding_2 657 743 6.42e-41 SMART
Pfam:B12-binding 761 861 3.3e-20 PFAM
Pfam:Met_synt_B12 953 1234 2.5e-114 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220473
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221190
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 99% (88/89)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit embryonic lethality prior to E9.5. Heterozygous appear mostly similar to conrtols, except that they exhibit elevated plasma methionine and homocysteine levels. [provided by MGI curators]
Allele List at MGI

All alleles(6) : Targeted, knock-out(1) Gene trapped(5)

Other mutations in this stock
Total: 164 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik A G 10: 28,859,922 (GRCm39) probably null Het
Aadacl3 A G 4: 144,182,802 (GRCm39) I222T probably damaging Het
Abca13 G T 11: 9,472,341 (GRCm39) G4249V possibly damaging Het
Abcb10 A G 8: 124,693,266 (GRCm39) V346A probably benign Het
Abcc2 A T 19: 43,807,800 (GRCm39) I814F probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Ankrd28 A C 14: 31,458,787 (GRCm39) D335E probably damaging Het
Ankrd44 T C 1: 54,801,475 (GRCm39) H284R probably damaging Het
Arfgef3 G T 10: 18,467,654 (GRCm39) Q1849K probably benign Het
Atp2c2 T C 8: 120,474,426 (GRCm39) M490T probably damaging Het
Bach1 T A 16: 87,519,340 (GRCm39) D543E probably damaging Het
Bahcc1 G A 11: 120,173,051 (GRCm39) V1558I probably benign Het
Bbs5 T A 2: 69,485,958 (GRCm39) W168R probably damaging Het
Bcar3 A T 3: 122,323,243 (GRCm39) D766V probably benign Het
C1ra A G 6: 124,490,727 (GRCm39) D40G probably benign Het
Ccdc138 G A 10: 58,409,465 (GRCm39) C598Y probably damaging Het
Cd200r3 T A 16: 44,778,188 (GRCm39) N197K possibly damaging Het
Cenpf T A 1: 189,383,417 (GRCm39) E2634D probably damaging Het
Cisd2 T C 3: 135,116,902 (GRCm39) K63R probably damaging Het
Clca3a2 A T 3: 144,513,112 (GRCm39) S478T possibly damaging Het
Clptm1l T C 13: 73,755,981 (GRCm39) M199T possibly damaging Het
Cntnap4 T A 8: 113,500,222 (GRCm39) S505T possibly damaging Het
Cr2 C T 1: 194,845,619 (GRCm39) G112D probably damaging Het
Crb2 T A 2: 37,683,768 (GRCm39) I1090N probably benign Het
Csmd3 G T 15: 47,484,688 (GRCm39) P3057Q probably damaging Het
Ctso G A 3: 81,861,547 (GRCm39) V307I probably damaging Het
Cyp3a41b T A 5: 145,510,461 (GRCm39) T138S probably benign Het
Dctn3 G T 4: 41,719,904 (GRCm39) Y67* probably null Het
Dennd4c C A 4: 86,738,121 (GRCm39) Y918* probably null Het
Dlg5 C T 14: 24,204,757 (GRCm39) G1262D probably damaging Het
Dnaaf1 G A 8: 120,304,100 (GRCm39) G46D probably benign Het
Dnah6 A G 6: 73,066,681 (GRCm39) V2563A probably damaging Het
Dnajc13 A G 9: 104,052,926 (GRCm39) Y1679H probably benign Het
Eif2ak3 T C 6: 70,864,877 (GRCm39) Y578H probably benign Het
Endod1 C T 9: 14,268,319 (GRCm39) V389M probably benign Het
Ephb4 T C 5: 137,363,768 (GRCm39) L582P probably damaging Het
Eps15 T C 4: 109,181,414 (GRCm39) L316S possibly damaging Het
Erbb4 G T 1: 68,369,405 (GRCm39) T412K probably damaging Het
Fam117a T A 11: 95,254,896 (GRCm39) F90I probably damaging Het
Fam187b T G 7: 30,676,515 (GRCm39) V8G possibly damaging Het
Far1 T A 7: 113,138,660 (GRCm39) I59N possibly damaging Het
Fbxo34 T A 14: 47,768,326 (GRCm39) L562Q probably damaging Het
Frem1 T A 4: 82,834,865 (GRCm39) probably benign Het
Gfra3 G T 18: 34,853,245 (GRCm39) P10Q probably damaging Het
Gm19965 T A 1: 116,749,626 (GRCm39) Y436N probably benign Het
Gm5799 A T 14: 43,782,005 (GRCm39) H59L probably damaging Het
Gmppb T A 9: 107,927,416 (GRCm39) V121E probably benign Het
Ighv7-4 G C 12: 114,186,899 (GRCm39) probably benign Het
Ipo4 A G 14: 55,868,671 (GRCm39) S446P probably damaging Het
Itpr2 T C 6: 146,272,829 (GRCm39) T855A probably damaging Het
Jaml T C 9: 45,012,362 (GRCm39) I283T possibly damaging Het
Kcnn2 T C 18: 45,818,334 (GRCm39) probably benign Het
Klhl32 T C 4: 24,649,698 (GRCm39) Y399C possibly damaging Het
Litafd A G 16: 8,501,209 (GRCm39) T22A unknown Het
Lratd2 C A 15: 60,695,793 (GRCm39) probably benign Het
Lrriq1 G A 10: 103,057,179 (GRCm39) T207I probably benign Het
Lrriq3 A T 3: 154,893,607 (GRCm39) H436L probably benign Het
Mad2l1bp T C 17: 46,459,189 (GRCm39) K114E possibly damaging Het
Mamstr T C 7: 45,291,842 (GRCm39) V64A possibly damaging Het
Map4 T A 9: 109,864,325 (GRCm39) S517T probably benign Het
Matn1 A T 4: 130,677,336 (GRCm39) I182F possibly damaging Het
Mcm3 A G 1: 20,880,380 (GRCm39) I484T probably damaging Het
Med13 T A 11: 86,169,599 (GRCm39) I1922F probably damaging Het
Metap2 A G 10: 93,704,757 (GRCm39) V137A probably damaging Het
Mex3d A G 10: 80,222,788 (GRCm39) V156A possibly damaging Het
Mfsd6 G A 1: 52,748,755 (GRCm39) P37S probably benign Het
Mmut A G 17: 41,248,242 (GRCm39) T90A probably benign Het
Mrgprx1 A C 7: 47,670,959 (GRCm39) S263A possibly damaging Het
Mrtfa T C 15: 80,989,000 (GRCm39) E7G probably benign Het
Msantd5f6 C T 4: 73,319,504 (GRCm39) W80* probably null Het
Msl1 C T 11: 98,694,795 (GRCm39) R505* probably null Het
Mta2 T C 19: 8,923,215 (GRCm39) S96P probably damaging Het
Mutyh C T 4: 116,674,226 (GRCm39) T259I probably benign Het
Myof T C 19: 37,934,186 (GRCm39) T908A probably benign Het
Nav2 A T 7: 49,195,600 (GRCm39) D992V possibly damaging Het
Neb T C 2: 52,090,715 (GRCm39) T1352A possibly damaging Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Nudt6 G A 3: 37,459,503 (GRCm39) R161C probably benign Het
Olr1 A G 6: 129,465,053 (GRCm39) F141S possibly damaging Het
Oprl1 G T 2: 181,361,046 (GRCm39) M340I probably benign Het
Or10ag57 T A 2: 87,218,553 (GRCm39) V168E probably benign Het
Or10d1 T G 9: 39,484,154 (GRCm39) M134L probably benign Het
Or11g2 A G 14: 50,856,479 (GRCm39) T267A probably benign Het
Or14j1 T C 17: 38,146,240 (GRCm39) Y117H probably damaging Het
Or1e17 T A 11: 73,831,696 (GRCm39) I208K possibly damaging Het
Or2ak6 T C 11: 58,592,617 (GRCm39) V30A probably benign Het
Or2r2 A T 6: 42,463,613 (GRCm39) N171K probably benign Het
Or4f53 T A 2: 111,087,497 (GRCm39) F12L probably damaging Het
Or5d43 T A 2: 88,105,223 (GRCm39) M57L probably damaging Het
Or5g26 T A 2: 85,494,622 (GRCm39) D52V probably damaging Het
Or9s15 T A 1: 92,524,720 (GRCm39) C160S probably benign Het
Otogl A C 10: 107,737,197 (GRCm39) C72W probably damaging Het
Pcdha11 T A 18: 37,138,518 (GRCm39) I49N probably damaging Het
Pcdha4 T A 18: 37,087,008 (GRCm39) L397* probably null Het
Pcdhb14 A G 18: 37,581,331 (GRCm39) S146G probably benign Het
Pclo T A 5: 14,725,829 (GRCm39) H1562Q unknown Het
Pcsk9 T C 4: 106,304,766 (GRCm39) E434G probably benign Het
Phc2 A G 4: 128,645,391 (GRCm39) K833E probably damaging Het
Pja2 A T 17: 64,599,857 (GRCm39) S480R probably damaging Het
Pkd1 G A 17: 24,797,070 (GRCm39) G2493D probably damaging Het
Plk5 G A 10: 80,195,138 (GRCm39) V179M possibly damaging Het
Polr1a G A 6: 71,953,054 (GRCm39) V1541I probably benign Het
Ppard C G 17: 28,505,348 (GRCm39) R12G unknown Het
Ppp1r14a A G 7: 28,990,951 (GRCm39) D73G probably damaging Het
Psd3 C T 8: 68,573,800 (GRCm39) R127H probably benign Het
Pten G T 19: 32,735,903 (GRCm39) G20V possibly damaging Het
Ptprg T C 14: 11,554,233 (GRCm38) probably benign Het
Rad54l T C 4: 115,980,121 (GRCm39) D21G probably null Het
Rgs14 T C 13: 55,528,770 (GRCm39) Y304H probably damaging Het
Rgs9 T C 11: 109,131,694 (GRCm39) K346R probably damaging Het
Rnf169 C G 7: 99,575,653 (GRCm39) G314A probably damaging Het
Rpgrip1l T A 8: 91,996,805 (GRCm39) T692S probably damaging Het
Rtf1 T C 2: 119,505,709 (GRCm39) V54A possibly damaging Het
Rtn4 T C 11: 29,658,660 (GRCm39) V938A probably benign Het
Ryr2 T A 13: 11,702,818 (GRCm39) D2890V probably damaging Het
Ryr2 T C 13: 11,723,113 (GRCm39) T2509A probably damaging Het
Scel A C 14: 103,820,536 (GRCm39) T348P probably benign Het
Scgb1b2 G T 7: 30,990,998 (GRCm39) L37I possibly damaging Het
Sdf4 A G 4: 156,085,178 (GRCm39) H171R possibly damaging Het
Sec31a A G 5: 100,541,222 (GRCm39) V295A probably damaging Het
Semp2l2a T A 8: 13,886,970 (GRCm39) I374F possibly damaging Het
Setx T A 2: 29,036,385 (GRCm39) S957T probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Six5 A G 7: 18,830,894 (GRCm39) N507S probably benign Het
Slc12a7 T C 13: 73,912,011 (GRCm39) probably null Het
Slc1a7 T A 4: 107,850,237 (GRCm39) V116E probably damaging Het
Slc22a1 A G 17: 12,894,422 (GRCm39) L42P probably damaging Het
Slc25a31 A T 3: 40,675,975 (GRCm39) I174F probably damaging Het
Slc31a2 A T 4: 62,210,869 (GRCm39) M3L probably damaging Het
Slco1a4 T A 6: 141,791,223 (GRCm39) probably benign Het
Smcr8 C T 11: 60,669,436 (GRCm39) probably null Het
Smg5 G T 3: 88,262,999 (GRCm39) E801* probably null Het
Smgc C A 15: 91,738,819 (GRCm39) H492Q probably benign Het
Smyd4 G T 11: 75,294,010 (GRCm39) G694V probably damaging Het
Sorcs3 A G 19: 48,387,183 (GRCm39) T223A possibly damaging Het
Stab1 G T 14: 30,863,328 (GRCm39) C2119* probably null Het
Taar9 A G 10: 23,984,741 (GRCm39) I231T probably damaging Het
Tacr2 A G 10: 62,097,327 (GRCm39) Y269C probably damaging Het
Taf3 T G 2: 9,955,934 (GRCm39) K744N possibly damaging Het
Tcstv1b T A 13: 120,634,758 (GRCm39) S13R probably benign Het
Tenm4 T A 7: 96,555,452 (GRCm39) V2682E probably damaging Het
Tet1 A C 10: 62,658,442 (GRCm39) L1468R probably damaging Het
Tgds T C 14: 118,354,445 (GRCm39) probably benign Het
Tgfb2 A T 1: 186,361,110 (GRCm39) Y380* probably null Het
Tgm5 T G 2: 120,882,953 (GRCm39) K435Q probably damaging Het
Themis A G 10: 28,637,507 (GRCm39) T204A probably benign Het
Tm4sf1 T C 3: 57,202,100 (GRCm39) Y37C probably damaging Het
Tmed2b A G 9: 33,640,068 (GRCm39) noncoding transcript Het
Tnn T C 1: 159,972,603 (GRCm39) N333S possibly damaging Het
Tppp2 A G 14: 52,156,805 (GRCm39) N61D probably benign Het
Treml2 A G 17: 48,616,187 (GRCm39) T276A probably benign Het
Trit1 T C 4: 122,910,431 (GRCm39) V10A probably benign Het
Uba1y T G Y: 825,890 (GRCm39) probably null Het
Uqcc1 T C 2: 155,700,026 (GRCm39) probably benign Het
Vcam1 C G 3: 115,909,584 (GRCm39) G581A probably damaging Het
Vmn1r16 G A 6: 57,300,175 (GRCm39) T149I probably benign Het
Vmn1r209 T C 13: 22,989,826 (GRCm39) D288G probably damaging Het
Vmn1r78 T A 7: 11,886,891 (GRCm39) Y167* probably null Het
Vmn2r103 T A 17: 20,015,338 (GRCm39) S493T probably benign Het
Vmn2r105 T A 17: 20,447,556 (GRCm39) M423L probably benign Het
Vps13c T C 9: 67,871,564 (GRCm39) F3244L probably damaging Het
Zfp119b A T 17: 56,246,642 (GRCm39) D149E probably damaging Het
Zfp345 T C 2: 150,315,228 (GRCm39) Y103C possibly damaging Het
Zmym6 C T 4: 127,017,009 (GRCm39) T930I probably benign Het
Other mutations in Mtr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01299:Mtr APN 13 12,240,536 (GRCm39) splice site probably benign
IGL02456:Mtr APN 13 12,213,980 (GRCm39) missense probably damaging 0.98
IGL02573:Mtr APN 13 12,214,013 (GRCm39) missense possibly damaging 0.95
IGL02642:Mtr APN 13 12,210,118 (GRCm39) splice site probably benign
IGL03005:Mtr APN 13 12,250,335 (GRCm39) splice site probably benign
IGL03017:Mtr APN 13 12,262,777 (GRCm39) critical splice donor site probably null
IGL03036:Mtr APN 13 12,262,263 (GRCm39) missense probably damaging 1.00
H8930:Mtr UTSW 13 12,250,346 (GRCm39) missense probably damaging 1.00
PIT4431001:Mtr UTSW 13 12,227,329 (GRCm39) missense probably damaging 1.00
PIT4520001:Mtr UTSW 13 12,212,871 (GRCm39) nonsense probably null
R0011:Mtr UTSW 13 12,252,938 (GRCm39) splice site probably benign
R0047:Mtr UTSW 13 12,237,112 (GRCm39) missense probably damaging 1.00
R0047:Mtr UTSW 13 12,237,112 (GRCm39) missense probably damaging 1.00
R0304:Mtr UTSW 13 12,237,040 (GRCm39) critical splice donor site probably null
R0617:Mtr UTSW 13 12,236,318 (GRCm39) missense probably benign
R0842:Mtr UTSW 13 12,215,133 (GRCm39) missense probably damaging 1.00
R1101:Mtr UTSW 13 12,204,411 (GRCm39) missense possibly damaging 0.84
R1450:Mtr UTSW 13 12,208,619 (GRCm39) missense probably damaging 0.99
R1534:Mtr UTSW 13 12,250,430 (GRCm39) splice site probably benign
R1907:Mtr UTSW 13 12,240,418 (GRCm39) missense probably damaging 1.00
R2111:Mtr UTSW 13 12,259,487 (GRCm39) missense possibly damaging 0.86
R2354:Mtr UTSW 13 12,203,043 (GRCm39) splice site probably benign
R3849:Mtr UTSW 13 12,262,251 (GRCm39) missense probably benign 0.16
R3899:Mtr UTSW 13 12,231,735 (GRCm39) missense probably benign 0.00
R4012:Mtr UTSW 13 12,204,284 (GRCm39) missense probably damaging 1.00
R4012:Mtr UTSW 13 12,204,283 (GRCm39) missense probably damaging 1.00
R4075:Mtr UTSW 13 12,230,298 (GRCm39) critical splice donor site probably null
R4091:Mtr UTSW 13 12,245,943 (GRCm39) missense probably damaging 1.00
R4655:Mtr UTSW 13 12,242,679 (GRCm39) missense probably damaging 1.00
R4802:Mtr UTSW 13 12,210,137 (GRCm39) missense probably benign 0.01
R4895:Mtr UTSW 13 12,231,752 (GRCm39) missense probably benign 0.01
R5481:Mtr UTSW 13 12,203,041 (GRCm39) critical splice acceptor site probably null
R5966:Mtr UTSW 13 12,230,453 (GRCm39) critical splice acceptor site probably null
R6209:Mtr UTSW 13 12,205,278 (GRCm39) missense probably benign 0.00
R6348:Mtr UTSW 13 12,262,840 (GRCm39) missense possibly damaging 0.49
R6463:Mtr UTSW 13 12,231,752 (GRCm39) missense probably benign 0.01
R6467:Mtr UTSW 13 12,202,992 (GRCm39) missense probably damaging 1.00
R7046:Mtr UTSW 13 12,205,095 (GRCm39) missense possibly damaging 0.58
R7505:Mtr UTSW 13 12,236,362 (GRCm39) missense probably benign 0.02
R7575:Mtr UTSW 13 12,213,963 (GRCm39) missense probably benign 0.01
R7705:Mtr UTSW 13 12,264,782 (GRCm39) missense probably benign
R7748:Mtr UTSW 13 12,242,725 (GRCm39) missense probably benign 0.00
R8161:Mtr UTSW 13 12,236,372 (GRCm39) missense probably damaging 0.99
R8290:Mtr UTSW 13 12,205,139 (GRCm39) missense probably damaging 1.00
R8988:Mtr UTSW 13 12,250,365 (GRCm39) missense probably benign
R9050:Mtr UTSW 13 12,231,748 (GRCm39) missense probably null 0.67
R9420:Mtr UTSW 13 12,268,764 (GRCm39) missense probably benign 0.04
R9655:Mtr UTSW 13 12,203,030 (GRCm39) missense probably damaging 1.00
X0064:Mtr UTSW 13 12,265,543 (GRCm39) missense probably damaging 1.00
Z1177:Mtr UTSW 13 12,264,752 (GRCm39) nonsense probably null
Z1177:Mtr UTSW 13 12,201,935 (GRCm39) missense probably benign 0.32
Predicted Primers
Posted On 2017-04-14