Incidental Mutation 'R4823:Bhmt2'
ID 371326
Institutional Source Beutler Lab
Gene Symbol Bhmt2
Ensembl Gene ENSMUSG00000042118
Gene Name betaine-homocysteine methyltransferase 2
Synonyms C81077, D13Ucla2
MMRRC Submission 042439-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R4823 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 93792605-93810810 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 93799798 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 213 (W213R)
Ref Sequence ENSEMBL: ENSMUSP00000015941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015941]
AlphaFold Q91WS4
Predicted Effect probably benign
Transcript: ENSMUST00000015941
AA Change: W213R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000015941
Gene: ENSMUSG00000042118
AA Change: W213R

Pfam:S-methyl_trans 23 305 3.9e-44 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 98% (96/98)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Homocysteine is a sulfur-containing amino acid that plays a crucial role in methylation reactions. Transfer of the methyl group from betaine to homocysteine creates methionine, which donates the methyl group to methylate DNA, proteins, lipids, and other intracellular metabolites. The protein encoded by this gene is one of two methyl transferases that can catalyze the transfer of the methyl group from betaine to homocysteine. Anomalies in homocysteine metabolism have been implicated in disorders ranging from vascular disease to neural tube birth defects such as spina bifida. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik G A 5: 88,120,457 (GRCm39) D405N probably benign Het
4921517D22Rik T G 13: 59,838,718 (GRCm39) E38A probably damaging Het
4930433I11Rik A T 7: 40,642,786 (GRCm39) I152F probably benign Het
Aass A T 6: 23,107,690 (GRCm39) D364E probably benign Het
Adamts2 A G 11: 50,628,014 (GRCm39) D238G probably benign Het
Albfm1 T A 5: 90,714,362 (GRCm39) L124H probably benign Het
Aoc1l1 A G 6: 48,952,195 (GRCm39) D40G probably damaging Het
Aplf G A 6: 87,623,237 (GRCm39) L302F probably damaging Het
Apol7b G T 15: 77,311,982 (GRCm39) probably benign Het
Arhgef12 A G 9: 42,931,992 (GRCm39) V165A probably benign Het
Ascc3 T C 10: 50,589,329 (GRCm39) S1017P probably damaging Het
B230104I21Rik T A 4: 154,434,204 (GRCm39) probably benign Het
Bfsp2 C A 9: 103,357,082 (GRCm39) C115F probably damaging Het
Capn5 A T 7: 97,775,648 (GRCm39) V431E probably damaging Het
Ccdc88c A G 12: 100,896,802 (GRCm39) Y1390H probably damaging Het
Ccr3 A G 9: 123,828,718 (GRCm39) T18A probably damaging Het
Cdh5 T C 8: 104,869,301 (GRCm39) S676P probably benign Het
Ceacam5 A G 7: 17,491,669 (GRCm39) T680A possibly damaging Het
Cebpd G A 16: 15,705,978 (GRCm39) G264S probably benign Het
Cfd T C 10: 79,726,782 (GRCm39) V8A probably benign Het
Cops9 C T 1: 92,569,588 (GRCm39) probably benign Het
Cpne6 T C 14: 55,754,467 (GRCm39) Y533H probably damaging Het
Cyp2c67 T A 19: 39,604,168 (GRCm39) H396L probably benign Het
Cyp2j9 G A 4: 96,456,972 (GRCm39) P500S possibly damaging Het
Cyp4a12a A T 4: 115,184,610 (GRCm39) probably null Het
Dbt G A 3: 116,317,036 (GRCm39) D71N probably damaging Het
Ddx41 G T 13: 55,679,868 (GRCm39) Q440K probably benign Het
Elovl4 A G 9: 83,662,738 (GRCm39) F174S probably damaging Het
Emcn C G 3: 137,129,187 (GRCm39) P193R probably damaging Het
Etnk1 T C 6: 143,113,364 (GRCm39) probably null Het
Fads3 A C 19: 10,019,252 (GRCm39) S53R probably damaging Het
Fam193a A G 5: 34,616,372 (GRCm39) E849G probably damaging Het
Fat3 A G 9: 15,907,803 (GRCm39) V2733A probably benign Het
Frem3 T A 8: 81,340,587 (GRCm39) M960K probably benign Het
Frmd6 A T 12: 70,919,349 (GRCm39) I62L probably benign Het
Glmp T C 3: 88,232,530 (GRCm39) probably benign Het
Gm17421 T C 12: 113,333,161 (GRCm39) noncoding transcript Het
Gm27013 T A 6: 130,499,186 (GRCm39) noncoding transcript Het
Gtf2ird1 A G 5: 134,424,576 (GRCm39) V390A probably damaging Het
Hps3 A G 3: 20,066,890 (GRCm39) Y559H probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Itpr3 A G 17: 27,304,121 (GRCm39) D114G probably benign Het
Jmjd4 G A 11: 59,346,406 (GRCm39) A408T probably benign Het
Kcnh4 G T 11: 100,646,000 (GRCm39) A316D probably damaging Het
Klrg1 T A 6: 122,250,492 (GRCm39) probably null Het
Lancl2 T A 6: 57,709,262 (GRCm39) Y355N probably damaging Het
Ltb T C 17: 35,414,206 (GRCm39) S115P probably benign Het
Mccc2 T G 13: 100,136,762 (GRCm39) R64S probably benign Het
Mgam2-ps T A 6: 40,809,596 (GRCm39) noncoding transcript Het
Mrrf T G 2: 36,038,042 (GRCm39) N104K possibly damaging Het
Nipa1 C A 7: 55,629,436 (GRCm39) V226L possibly damaging Het
Numa1 T A 7: 101,645,244 (GRCm39) L290Q probably damaging Het
Ofcc1 T A 13: 40,433,949 (GRCm39) H52L probably damaging Het
Ogfod3 G A 11: 121,086,027 (GRCm39) A189V probably benign Het
Or14c39 T A 7: 86,343,796 (GRCm39) I44N probably damaging Het
Or5b21 A T 19: 12,839,180 (GRCm39) I14F probably benign Het
Or5d46 A G 2: 88,170,179 (GRCm39) D90G probably damaging Het
Or9i1b G A 19: 13,897,022 (GRCm39) V213I probably benign Het
P2ry12 G A 3: 59,125,318 (GRCm39) S119L probably benign Het
Pde7b T A 10: 20,314,531 (GRCm39) N192Y probably damaging Het
Pfkl T C 10: 77,833,428 (GRCm39) N258S probably damaging Het
Phykpl G A 11: 51,477,420 (GRCm39) A71T probably damaging Het
Ppp1r16a T C 15: 76,577,393 (GRCm39) probably benign Het
Pramel15 T C 4: 144,099,781 (GRCm39) N328S possibly damaging Het
Pramel32 T C 4: 88,547,452 (GRCm39) K160R probably damaging Het
Prune2 C T 19: 17,097,868 (GRCm39) T1124M probably damaging Het
Rapgef6 A G 11: 54,585,326 (GRCm39) I1570V probably benign Het
Rbm34 T C 8: 127,697,655 (GRCm39) S19G probably benign Het
Rnf10 T C 5: 115,393,501 (GRCm39) probably null Het
Rnf34 A G 5: 122,988,365 (GRCm39) probably null Het
Setd4 A G 16: 93,386,838 (GRCm39) S287P probably benign Het
Shc3 C T 13: 51,605,606 (GRCm39) V225I probably benign Het
Sipa1l3 C T 7: 29,070,427 (GRCm39) V1030I probably damaging Het
Siva1 G T 12: 112,611,498 (GRCm39) R33L probably damaging Het
Slc4a5 C T 6: 83,249,115 (GRCm39) T573I probably damaging Het
Sorcs1 C T 19: 50,666,578 (GRCm39) R110Q possibly damaging Het
Sorcs1 T C 19: 50,218,740 (GRCm39) I581V possibly damaging Het
Sorl1 T C 9: 41,903,617 (GRCm39) D1545G probably damaging Het
Tas2r124 T G 6: 132,732,509 (GRCm39) S273A probably damaging Het
Tcf15 T C 2: 151,985,813 (GRCm39) F90L probably damaging Het
Trim59 G A 3: 68,944,453 (GRCm39) R296C probably benign Het
Tulp1 A T 17: 28,572,546 (GRCm39) D229E probably benign Het
Ush1c T A 7: 45,845,157 (GRCm39) N886I probably benign Het
Usp9y A T Y: 1,444,559 (GRCm39) S127T probably damaging Het
Vmn1r19 T A 6: 57,382,219 (GRCm39) Y257* probably null Het
Vmn2r109 A T 17: 20,774,153 (GRCm39) Y401N probably damaging Het
Vmn2r69 A C 7: 85,060,508 (GRCm39) S359A probably benign Het
Zfp37 A T 4: 62,109,740 (GRCm39) N479K probably benign Het
Other mutations in Bhmt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Bhmt2 APN 13 93,803,279 (GRCm39) splice site probably benign
IGL01665:Bhmt2 APN 13 93,799,661 (GRCm39) nonsense probably null
IGL02059:Bhmt2 APN 13 93,803,171 (GRCm39) missense probably benign
IGL02239:Bhmt2 APN 13 93,799,687 (GRCm39) missense probably benign 0.00
IGL02267:Bhmt2 APN 13 93,805,854 (GRCm39) missense probably damaging 1.00
IGL03148:Bhmt2 APN 13 93,803,161 (GRCm39) missense possibly damaging 0.48
R1171:Bhmt2 UTSW 13 93,798,837 (GRCm39) missense probably benign 0.00
R1517:Bhmt2 UTSW 13 93,798,847 (GRCm39) missense probably damaging 0.97
R1886:Bhmt2 UTSW 13 93,798,998 (GRCm39) missense probably benign 0.02
R2167:Bhmt2 UTSW 13 93,799,012 (GRCm39) missense probably benign 0.29
R4024:Bhmt2 UTSW 13 93,799,839 (GRCm39) splice site probably benign
R5273:Bhmt2 UTSW 13 93,803,086 (GRCm39) missense possibly damaging 0.84
R5333:Bhmt2 UTSW 13 93,807,938 (GRCm39) missense probably benign 0.00
R5738:Bhmt2 UTSW 13 93,799,798 (GRCm39) missense probably benign
R5955:Bhmt2 UTSW 13 93,799,705 (GRCm39) missense probably benign 0.00
R6281:Bhmt2 UTSW 13 93,799,668 (GRCm39) missense probably damaging 1.00
R6858:Bhmt2 UTSW 13 93,807,948 (GRCm39) missense probably damaging 0.97
R6934:Bhmt2 UTSW 13 93,798,819 (GRCm39) missense probably benign 0.18
R6985:Bhmt2 UTSW 13 93,799,830 (GRCm39) missense possibly damaging 0.64
R7185:Bhmt2 UTSW 13 93,799,779 (GRCm39) missense probably benign 0.22
R7639:Bhmt2 UTSW 13 93,799,822 (GRCm39) missense probably damaging 1.00
R8412:Bhmt2 UTSW 13 93,798,820 (GRCm39) missense possibly damaging 0.49
R9224:Bhmt2 UTSW 13 93,805,854 (GRCm39) missense probably damaging 1.00
R9479:Bhmt2 UTSW 13 93,799,833 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-03-01