Incidental Mutation 'R6892:Sgms2'
ID 538095
Institutional Source Beutler Lab
Gene Symbol Sgms2
Ensembl Gene ENSMUSG00000050931
Gene Name sphingomyelin synthase 2
Synonyms 5133401H06Rik, 4933405A16Rik
MMRRC Submission 044986-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R6892 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 131112634-131197172 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 131135803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 24 (Y24H)
Ref Sequence ENSEMBL: ENSMUSP00000114192 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090246] [ENSMUST00000126569] [ENSMUST00000197057]
AlphaFold Q9D4B1
Predicted Effect probably benign
Transcript: ENSMUST00000090246
AA Change: Y24H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000087713
Gene: ENSMUSG00000050931
AA Change: Y24H

DomainStartEndE-ValueType
low complexity region 32 41 N/A INTRINSIC
transmembrane domain 79 101 N/A INTRINSIC
transmembrane domain 127 149 N/A INTRINSIC
transmembrane domain 154 176 N/A INTRINSIC
Pfam:PAP2_C 220 293 5.5e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126569
AA Change: Y24H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000197057
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.6%
Validation Efficiency 96% (54/56)
MGI Phenotype FUNCTION: Sphingomyelin, a major component of cell and Golgi membranes, is made by the transfer of phosphocholine from phosphatidylcholine onto ceramide, with diacylglycerol as a side product. The protein encoded by this gene is an enzyme that catalyzes this reaction primarily at the cell membrane. The synthesis is reversible, and this enzyme can catalyze the reaction in either direction. The encoded protein is required for cell growth. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased ceramide levels; decreased sphingomyelin, sphingomyelin-1-phosphate, and diacylglycerol levels; and resistance to lysenin-mediated cytolysis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930442H23Rik C A 10: 81,018,978 (GRCm39) probably benign Het
4933421I07Rik T C 7: 42,095,831 (GRCm39) Q139R probably benign Het
A930002H24Rik C T 17: 64,170,759 (GRCm39) V10M unknown Het
Acvr2a T A 2: 48,787,087 (GRCm39) L394Q probably damaging Het
Ano6 T C 15: 95,865,505 (GRCm39) Y830H probably damaging Het
Atp8b4 T A 2: 126,184,922 (GRCm39) I914F possibly damaging Het
Bltp3b G A 10: 89,640,985 (GRCm39) V719I probably benign Het
Cab39 A G 1: 85,776,098 (GRCm39) D265G probably damaging Het
Capn5 A T 7: 97,785,148 (GRCm39) W109R probably damaging Het
Cdk18 G T 1: 132,049,848 (GRCm39) T44K probably benign Het
Cdt1 T A 8: 123,296,951 (GRCm39) N248K probably damaging Het
Cpa4 G T 6: 30,583,628 (GRCm39) R248L probably benign Het
Cpt1a G A 19: 3,421,660 (GRCm39) V481M probably benign Het
Cyp3a11 G A 5: 145,797,258 (GRCm39) L374F probably damaging Het
Dcdc2a A G 13: 25,240,443 (GRCm39) N64D probably damaging Het
Dmxl1 G A 18: 50,053,969 (GRCm39) R2525Q probably damaging Het
Dscaml1 G A 9: 45,595,128 (GRCm39) V744M probably damaging Het
Dync1h1 G A 12: 110,605,335 (GRCm39) E2391K probably benign Het
Ezh1 A T 11: 101,090,187 (GRCm39) Y522* probably null Het
Fzd3 G C 14: 65,447,330 (GRCm39) A533G possibly damaging Het
Gm14403 T G 2: 177,201,040 (GRCm39) C329G probably damaging Het
Gm17067 A C 7: 42,360,099 (GRCm39) probably null Het
Gm38119 A G 3: 92,645,529 (GRCm39) C22R unknown Het
Grep1 A G 17: 23,931,328 (GRCm39) L193P probably damaging Het
Gtf3c3 A G 1: 54,455,100 (GRCm39) S588P probably benign Het
Ift140 A G 17: 25,239,520 (GRCm39) E59G possibly damaging Het
Ints1 A T 5: 139,753,583 (GRCm39) M683K probably damaging Het
Iws1 A G 18: 32,219,327 (GRCm39) M470V probably damaging Het
Mptx1 A G 1: 174,159,831 (GRCm39) R46G probably benign Het
Nhsl1 C T 10: 18,400,091 (GRCm39) T439I probably damaging Het
Or10a49 A G 7: 108,467,722 (GRCm39) L213P probably damaging Het
Peg3 C T 7: 6,711,898 (GRCm39) S1108N possibly damaging Het
Pgm1 A G 4: 99,786,905 (GRCm39) E48G probably benign Het
Pkhd1 G A 1: 20,593,739 (GRCm39) T1458I probably damaging Het
Polr1a A T 6: 71,941,696 (GRCm39) D1068V possibly damaging Het
Ptprq T C 10: 107,411,865 (GRCm39) T1834A probably benign Het
Rapgef1 T C 2: 29,589,852 (GRCm39) probably null Het
Rgl1 A T 1: 152,415,691 (GRCm39) D409E probably benign Het
Rgsl1 G T 1: 153,697,245 (GRCm39) Y558* probably null Het
Rock1 C T 18: 10,122,612 (GRCm39) R403H probably benign Het
Scn11a T A 9: 119,636,035 (GRCm39) D304V possibly damaging Het
Sdk1 A T 5: 142,032,053 (GRCm39) I1043F probably benign Het
Sppl2a A G 2: 126,755,495 (GRCm39) I372T probably damaging Het
Sptbn1 A G 11: 30,092,187 (GRCm39) M526T probably benign Het
Stxbp5l A T 16: 37,008,991 (GRCm39) S683T possibly damaging Het
Syk A T 13: 52,786,934 (GRCm39) R332S probably benign Het
Syne2 T A 12: 76,009,302 (GRCm39) V2401E probably damaging Het
Tarm1 T C 7: 3,546,006 (GRCm39) Y87C probably damaging Het
Tbc1d22b A G 17: 29,814,864 (GRCm39) K378E possibly damaging Het
Tcte1 A G 17: 45,844,083 (GRCm39) T20A probably benign Het
Tor1aip2 A T 1: 155,940,927 (GRCm39) Y411F possibly damaging Het
Trim43c T A 9: 88,726,977 (GRCm39) M267K probably benign Het
Ubr2 T G 17: 47,245,034 (GRCm39) Y1664S probably damaging Het
Vmn1r41 C A 6: 89,724,163 (GRCm39) Q235K possibly damaging Het
Wdr17 T C 8: 55,126,631 (GRCm39) T401A probably damaging Het
Zfp454 A G 11: 50,764,025 (GRCm39) L469P probably damaging Het
Other mutations in Sgms2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00592:Sgms2 APN 3 131,135,482 (GRCm39) missense possibly damaging 0.91
IGL01839:Sgms2 APN 3 131,135,751 (GRCm39) missense possibly damaging 0.92
IGL02232:Sgms2 APN 3 131,116,833 (GRCm39) missense probably benign
R0602:Sgms2 UTSW 3 131,118,756 (GRCm39) critical splice acceptor site probably null
R2183:Sgms2 UTSW 3 131,129,934 (GRCm39) splice site probably null
R4393:Sgms2 UTSW 3 131,135,466 (GRCm39) splice site probably null
R4457:Sgms2 UTSW 3 131,118,665 (GRCm39) missense probably damaging 1.00
R5050:Sgms2 UTSW 3 131,124,005 (GRCm39) missense probably benign
R5052:Sgms2 UTSW 3 131,124,005 (GRCm39) missense probably benign
R5088:Sgms2 UTSW 3 131,124,005 (GRCm39) missense probably benign
R5224:Sgms2 UTSW 3 131,135,766 (GRCm39) missense probably damaging 0.98
R5426:Sgms2 UTSW 3 131,135,446 (GRCm39) missense probably benign 0.01
R5682:Sgms2 UTSW 3 131,118,611 (GRCm39) missense probably damaging 0.99
R5735:Sgms2 UTSW 3 131,129,866 (GRCm39) missense probably damaging 1.00
R7149:Sgms2 UTSW 3 131,129,908 (GRCm39) missense possibly damaging 0.78
R7762:Sgms2 UTSW 3 131,116,898 (GRCm39) missense probably benign 0.13
R9378:Sgms2 UTSW 3 131,136,011 (GRCm39) start gained probably benign
R9440:Sgms2 UTSW 3 131,118,718 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GACGGTGATCATGACGGTTG -3'
(R):5'- TAAGAGTCCATGTTGATCTCGC -3'

Sequencing Primer
(F):5'- GCATACACAAAGGCGATGC -3'
(R):5'- GTCCATGTTGATCTCGCAAGTAGAAG -3'
Posted On 2018-11-06