Incidental Mutation 'R4963:Smyd2'
ID 383693
Institutional Source Beutler Lab
Gene Symbol Smyd2
Ensembl Gene ENSMUSG00000026603
Gene Name SET and MYND domain containing 2
Synonyms Zmynd14, 1110020E07Rik, KMT3C
MMRRC Submission 042560-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4963 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 189612689-189654560 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 189614385 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 381 (V381E)
Ref Sequence ENSEMBL: ENSMUSP00000027897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027897]
AlphaFold Q8R5A0
PDB Structure Crystal structure of histone lysine methyltransferase SmyD2 in complex with the cofactor product AdoHcy [X-RAY DIFFRACTION]
Crystal structure of histone lysine methyltransferase SmyD2 in complex with the methyltransferase inhibitor sinefungin [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000027897
AA Change: V381E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000027897
Gene: ENSMUSG00000026603
AA Change: V381E

DomainStartEndE-ValueType
SET 7 247 2.88e-2 SMART
SCOP:d1elra_ 344 411 8e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130804
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132289
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144452
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193794
Meta Mutation Damage Score 0.8298 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 97% (74/76)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SET domain-containing proteins, such as SMYD2, catalyze lysine methylation (Brown et al., 2006 [PubMed 16805913]).[supplied by OMIM, Nov 2008]
PHENOTYPE: Mice homozygous for a targeted allele exhibit increased circulating total and LDL cholesterol levels and decreased circulating sodium and chloride levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A T 17: 48,470,582 (GRCm39) I133N probably benign Het
Abca15 T C 7: 119,960,142 (GRCm39) S642P probably damaging Het
Abcg5 G T 17: 84,967,569 (GRCm39) Y410* probably null Het
Anapc7 T A 5: 122,560,669 (GRCm39) M10K probably damaging Het
Ank2 G A 3: 126,825,745 (GRCm39) T418M probably benign Het
Arhgap17 T C 7: 122,907,583 (GRCm39) R260G possibly damaging Het
Atp1a3 T C 7: 24,694,051 (GRCm39) T381A probably damaging Het
Cep89 T G 7: 35,102,577 (GRCm39) S97A probably benign Het
Cyp2j11 T C 4: 96,204,619 (GRCm39) D309G probably damaging Het
Dcbld2 T C 16: 58,286,145 (GRCm39) I768T probably benign Het
Defa41 C T 8: 21,691,774 (GRCm39) S52F probably damaging Het
Dgke A G 11: 88,941,628 (GRCm39) V249A possibly damaging Het
Dnah9 T C 11: 65,975,437 (GRCm39) probably null Het
Dnajc3 C A 14: 119,215,585 (GRCm39) H502N probably benign Het
Dsp A G 13: 38,381,846 (GRCm39) T2265A probably damaging Het
Enpp6 A G 8: 47,518,496 (GRCm39) D208G probably benign Het
Evc C T 5: 37,479,393 (GRCm39) probably null Het
Fam98a A G 17: 75,845,977 (GRCm39) S285P probably damaging Het
Glp2r G T 11: 67,648,419 (GRCm39) Y94* probably null Het
Gsdmc A G 15: 63,676,229 (GRCm39) probably null Het
Gtpbp4 C A 13: 9,035,253 (GRCm39) D369Y probably damaging Het
H2-M1 A G 17: 36,982,630 (GRCm39) Y77H probably benign Het
Irx2 T C 13: 72,780,729 (GRCm39) V466A possibly damaging Het
Kcnh4 C A 11: 100,643,079 (GRCm39) W396L probably damaging Het
Kif27 T C 13: 58,476,808 (GRCm39) D614G possibly damaging Het
Kirrel2 C A 7: 30,150,226 (GRCm39) probably null Het
Lcn5 A G 2: 25,551,426 (GRCm39) I182V probably benign Het
Ldb3 T G 14: 34,288,815 (GRCm39) S252R probably damaging Het
Marchf8 G A 6: 116,363,232 (GRCm39) probably benign Het
Mdn1 C A 4: 32,756,512 (GRCm39) Q4735K probably benign Het
Mfrp A T 9: 44,014,561 (GRCm39) H236L probably benign Het
Mlph A G 1: 90,867,112 (GRCm39) D378G probably damaging Het
Msi1 T A 5: 115,588,944 (GRCm39) Y320N probably damaging Het
Mtmr11 T C 3: 96,070,567 (GRCm39) probably benign Het
Mtpap T C 18: 4,375,638 (GRCm39) V6A probably benign Het
Nedd1 C A 10: 92,530,893 (GRCm39) D399Y probably damaging Het
Ninl A G 2: 150,781,829 (GRCm39) Y234H probably benign Het
Nkx3-1 G A 14: 69,428,367 (GRCm39) G72S probably benign Het
Nle1 A G 11: 82,795,763 (GRCm39) V228A probably benign Het
Npy4r T A 14: 33,868,973 (GRCm39) D105V probably damaging Het
Or1f12 A G 13: 21,722,152 (GRCm39) Y8H probably damaging Het
Palld C T 8: 62,156,244 (GRCm39) V464M probably damaging Het
Pclo T C 5: 14,719,235 (GRCm39) V1124A unknown Het
Pex1 T A 5: 3,659,924 (GRCm39) M476K probably benign Het
Pkhd1l1 G A 15: 44,367,421 (GRCm39) S773N probably benign Het
Polrmt A G 10: 79,582,385 (GRCm39) M1T probably null Het
Prmt9 A G 8: 78,282,358 (GRCm39) D85G probably damaging Het
Ptpn12 T A 5: 21,220,706 (GRCm39) probably null Het
Rbm19 T A 5: 120,279,631 (GRCm39) M766K probably damaging Het
Rdh11 A G 12: 79,235,380 (GRCm39) V72A probably benign Het
Rxfp3 A G 15: 11,036,367 (GRCm39) V335A probably damaging Het
Sema6a T C 18: 47,431,318 (GRCm39) K127E possibly damaging Het
Slc5a1 C T 5: 33,318,126 (GRCm39) T593I probably benign Het
Slco1a1 A G 6: 141,868,825 (GRCm39) F380L probably benign Het
Smc2 T C 4: 52,450,826 (GRCm39) S215P probably damaging Het
Smyd4 C T 11: 75,273,120 (GRCm39) S60L probably benign Het
Spata18 T A 5: 73,836,336 (GRCm39) V419E probably damaging Het
Terb1 A G 8: 105,208,950 (GRCm39) L376S probably damaging Het
Timd2 T C 11: 46,573,617 (GRCm39) E129G possibly damaging Het
Topbp1 C A 9: 103,197,804 (GRCm39) T461K probably benign Het
Tpp2 G A 1: 44,031,428 (GRCm39) R1069Q probably damaging Het
Ttn A G 2: 76,584,289 (GRCm39) V22273A probably damaging Het
Tulp4 G A 17: 6,249,088 (GRCm39) E36K probably damaging Het
Uqcrfs1 A T 13: 30,724,746 (GRCm39) F265I probably damaging Het
Vmn2r107 A T 17: 20,595,403 (GRCm39) Q652L probably damaging Het
Vwf C T 6: 125,644,446 (GRCm39) R2434* probably null Het
Wdhd1 A G 14: 47,506,146 (GRCm39) V256A possibly damaging Het
Zfp442 A T 2: 150,250,415 (GRCm39) C439S probably damaging Het
Zfp709 A G 8: 72,643,632 (GRCm39) T354A probably benign Het
Zswim2 A T 2: 83,755,454 (GRCm39) I149N probably damaging Het
Other mutations in Smyd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00480:Smyd2 APN 1 189,632,043 (GRCm39) missense probably damaging 1.00
IGL01060:Smyd2 APN 1 189,629,667 (GRCm39) missense possibly damaging 0.66
IGL01938:Smyd2 APN 1 189,621,079 (GRCm39) missense probably benign 0.05
IGL02113:Smyd2 APN 1 189,614,414 (GRCm39) missense probably damaging 0.99
IGL03075:Smyd2 APN 1 189,621,029 (GRCm39) missense probably damaging 0.98
R0739:Smyd2 UTSW 1 189,621,059 (GRCm39) missense possibly damaging 0.50
R2108:Smyd2 UTSW 1 189,629,623 (GRCm39) missense probably damaging 1.00
R2497:Smyd2 UTSW 1 189,617,534 (GRCm39) missense possibly damaging 0.93
R4466:Smyd2 UTSW 1 189,614,349 (GRCm39) missense probably benign 0.09
R4605:Smyd2 UTSW 1 189,629,623 (GRCm39) missense probably damaging 1.00
R4672:Smyd2 UTSW 1 189,642,101 (GRCm39) missense probably damaging 1.00
R4872:Smyd2 UTSW 1 189,628,847 (GRCm39) missense probably damaging 1.00
R5419:Smyd2 UTSW 1 189,642,090 (GRCm39) nonsense probably null
R5660:Smyd2 UTSW 1 189,617,579 (GRCm39) missense possibly damaging 0.95
R6271:Smyd2 UTSW 1 189,616,049 (GRCm39) missense probably damaging 1.00
R8291:Smyd2 UTSW 1 189,632,288 (GRCm39) intron probably benign
R8820:Smyd2 UTSW 1 189,632,018 (GRCm39) missense probably benign 0.03
R9011:Smyd2 UTSW 1 189,628,833 (GRCm39) missense probably damaging 0.99
R9612:Smyd2 UTSW 1 189,612,983 (GRCm39) makesense probably null
Predicted Primers PCR Primer
(F):5'- CCAGGATGACATGACCAGAG -3'
(R):5'- GTTTTGATGCAGCCTCATCC -3'

Sequencing Primer
(F):5'- GTAGTCCACAGCGAGTCAC -3'
(R):5'- TTTGATGCAGCCTCATCCAAAAGG -3'
Posted On 2016-04-27