Incidental Mutation 'R2183:Sgms2'
ID 237279
Institutional Source Beutler Lab
Gene Symbol Sgms2
Ensembl Gene ENSMUSG00000050931
Gene Name sphingomyelin synthase 2
Synonyms 5133401H06Rik, 4933405A16Rik
MMRRC Submission 040185-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R2183 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 131112634-131197172 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to C at 131129934 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000087713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090246]
AlphaFold Q9D4B1
Predicted Effect probably null
Transcript: ENSMUST00000090246
SMART Domains Protein: ENSMUSP00000087713
Gene: ENSMUSG00000050931

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atf7 T C 15: 102,454,908 (GRCm39) T287A possibly damaging Het
Atg9b C T 5: 24,595,491 (GRCm39) A263T probably benign Het
Cc2d1a A T 8: 84,867,028 (GRCm39) H371Q probably damaging Het
Ccdc39 T C 3: 33,875,581 (GRCm39) N537S possibly damaging Het
Cdc6 A T 11: 98,799,524 (GRCm39) K17* probably null Het
Cemip2 G A 19: 21,801,157 (GRCm39) R758Q possibly damaging Het
Cenpk T C 13: 104,370,671 (GRCm39) M64T probably damaging Het
Dhx57 T A 17: 80,582,760 (GRCm39) T282S probably benign Het
Frem1 G A 4: 82,909,732 (GRCm39) T757I probably benign Het
Gcsh A T 8: 117,715,885 (GRCm39) V66E probably damaging Het
Gdpd1 T C 11: 86,926,102 (GRCm39) N281S probably damaging Het
Hs1bp3 T C 12: 8,371,610 (GRCm39) V97A possibly damaging Het
Ipo11 T C 13: 107,061,595 (GRCm39) T22A probably benign Het
Irag1 A T 7: 110,498,189 (GRCm39) L402Q probably damaging Het
Lama1 A G 17: 68,098,004 (GRCm39) N1795D probably damaging Het
Larp4 T C 15: 99,909,778 (GRCm39) V627A probably benign Het
Lrp8 T C 4: 107,660,462 (GRCm39) C41R probably damaging Het
Mroh2b T A 15: 4,947,707 (GRCm39) probably null Het
Nebl T C 2: 17,409,027 (GRCm39) D357G probably damaging Het
Nrg2 T C 18: 36,329,804 (GRCm39) K137R probably benign Het
Or14c43 T A 7: 86,115,594 (GRCm39) V325E probably benign Het
Or1j14 C T 2: 36,417,723 (GRCm39) Q100* probably null Het
Or5t7 A T 2: 86,507,380 (GRCm39) M99K probably benign Het
Phc1 C A 6: 122,300,284 (GRCm39) V487L probably damaging Het
Piezo2 A G 18: 63,239,345 (GRCm39) V745A probably damaging Het
Proca1 A T 11: 78,094,975 (GRCm39) H83L possibly damaging Het
Prpf4 G A 4: 62,330,046 (GRCm39) V107I probably damaging Het
Ptprz1 G A 6: 23,002,284 (GRCm39) R1458Q probably benign Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rbsn C A 6: 92,166,618 (GRCm39) L675F probably benign Het
Recql5 T C 11: 115,787,613 (GRCm39) S514G probably benign Het
Scai G A 2: 38,970,138 (GRCm39) T542I probably benign Het
Sftpa1 G T 14: 40,854,823 (GRCm39) D73Y probably damaging Het
Spart A G 3: 55,024,554 (GRCm39) I50V probably benign Het
Spata7 A T 12: 98,603,871 (GRCm39) K47N probably damaging Het
Tbx18 T A 9: 87,587,789 (GRCm39) T443S probably damaging Het
Tmem130 T C 5: 144,692,242 (GRCm39) D54G possibly damaging Het
Tnip2 TCTCCT TCT 5: 34,656,957 (GRCm39) probably benign Het
Trp53rkb G T 2: 166,635,877 (GRCm39) V73L possibly damaging Het
Wwc2 A T 8: 48,295,961 (GRCm39) L1103H unknown Het
Yes1 T A 5: 32,802,370 (GRCm39) V95E probably damaging Het
Zfp971 T A 2: 177,675,533 (GRCm39) H377Q probably damaging Het
Zzef1 C T 11: 72,777,544 (GRCm39) R1792* probably null 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
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
R6892:Sgms2 UTSW 3 131,135,803 (GRCm39) missense probably benign
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'- ACTGGGTGCTCTGGAATTGC -3'
(R):5'- AGGTAGCTCACAGGCCTTAAAATG -3'

Sequencing Primer
(F):5'- AATTGCTTTCCCAATTCCCCTCTG -3'
(R):5'- GATTAAAATATTGGATCCAGGCGTG -3'
Posted On 2014-10-02