Incidental Mutation 'R5224:Sgms2'
ID 402484
Institutional Source Beutler Lab
Gene Symbol Sgms2
Ensembl Gene ENSMUSG00000050931
Gene Name sphingomyelin synthase 2
Synonyms 5133401H06Rik, 4933405A16Rik
MMRRC Submission 042797-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R5224 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 131112634-131197172 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 131135766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Isoleucine at position 36 (K36I)
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: K36I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000087713
Gene: ENSMUSG00000050931
AA Change: K36I

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 damaging
Transcript: ENSMUST00000126569
AA Change: K36I

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000197057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200431
Meta Mutation Damage Score 0.1672 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 98% (58/59)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb3 CGTGACCTTTCTGGT CGT 10: 85,481,386 (GRCm39) probably benign Het
Ahi1 A G 10: 20,862,921 (GRCm39) S699G probably damaging Het
Atp10d C T 5: 72,426,669 (GRCm39) A959V probably benign Het
Axl T C 7: 25,486,369 (GRCm39) M112V probably benign Het
Brd10 A T 19: 29,696,450 (GRCm39) S1014R possibly damaging Het
Camk1g A T 1: 193,037,342 (GRCm39) D119E probably damaging Het
Capn8 A C 1: 182,424,554 (GRCm39) N117T probably damaging Het
Cct3 G A 3: 88,204,532 (GRCm39) probably benign Het
Csmd3 T C 15: 47,752,080 (GRCm39) T1293A possibly damaging Het
Depdc1b A G 13: 108,521,354 (GRCm39) D387G probably damaging Het
Dtx3l A G 16: 35,759,163 (GRCm39) Y29H possibly damaging Het
Erp44 A T 4: 48,279,435 (GRCm39) N2K probably benign Het
Fmn1 A G 2: 113,195,470 (GRCm39) E390G unknown Het
Ganab T A 19: 8,887,955 (GRCm39) D396E probably benign Het
Gatd3a A G 10: 77,999,367 (GRCm39) V148A probably damaging Het
Gcc2 T A 10: 58,121,982 (GRCm39) S1140T probably damaging Het
Gm7008 T C 12: 40,273,342 (GRCm39) probably benign Het
Gphn T A 12: 78,637,361 (GRCm39) F354I probably damaging Het
H2-T7 G A 17: 36,454,231 (GRCm39) noncoding transcript Het
Hnrnpul1 G A 7: 25,444,600 (GRCm39) T236M probably damaging Het
Itpr2 T A 6: 146,068,149 (GRCm39) M2410L probably benign Het
Jaml T A 9: 45,015,564 (GRCm39) M356K probably damaging Het
Kbtbd12 T A 6: 88,594,681 (GRCm39) probably benign Het
Ldlrad3 G T 2: 101,943,954 (GRCm39) N39K probably damaging Het
Lrp1b G A 2: 41,000,852 (GRCm39) T2238I possibly damaging Het
Lypd8 T A 11: 58,277,634 (GRCm39) C139S possibly damaging Het
Masp1 G T 16: 23,313,445 (GRCm39) H163Q probably damaging Het
Mpo T C 11: 87,687,283 (GRCm39) probably benign Het
Muc19 A T 15: 91,825,910 (GRCm39) noncoding transcript Het
Muc5ac T A 7: 141,347,708 (GRCm39) S438T probably benign Het
Nav2 T C 7: 49,201,473 (GRCm39) V160A probably benign Het
Nlrc5 G T 8: 95,220,944 (GRCm39) A1128S probably benign Het
Nlrp5 T A 7: 23,117,401 (GRCm39) L375Q probably damaging Het
Nlrp9a A G 7: 26,256,717 (GRCm39) T112A probably benign Het
Nppa T C 4: 148,085,773 (GRCm39) S127P probably damaging Het
Or8k24 A G 2: 86,216,193 (GRCm39) S190P possibly damaging Het
Osbpl1a T C 18: 13,066,753 (GRCm39) N2S probably benign Het
Otoa A G 7: 120,739,016 (GRCm39) T742A probably damaging Het
Pcdh10 A G 3: 45,347,249 (GRCm39) R1015G probably damaging Het
Pdzrn3 C T 6: 101,130,272 (GRCm39) D515N probably damaging Het
Plpp1 T A 13: 112,988,046 (GRCm39) Y56* probably null Het
Ppp1r12a A G 10: 108,096,886 (GRCm39) T236A probably benign Het
Rhag T C 17: 41,139,395 (GRCm39) L110P probably damaging Het
Scn11a T A 9: 119,583,858 (GRCm39) N1586Y probably damaging Het
Slc22a2 A G 17: 12,805,719 (GRCm39) N157D probably damaging Het
Stx19 T G 16: 62,642,937 (GRCm39) M251R probably benign Het
Suco A G 1: 161,662,274 (GRCm39) I719T probably benign Het
Tnr A G 1: 159,750,885 (GRCm39) D1282G probably damaging Het
Tram1 T C 1: 13,648,349 (GRCm39) R154G probably benign Het
Ubtfl1 G T 9: 18,321,326 (GRCm39) V285L probably benign Het
Ugt2b38 A G 5: 87,571,601 (GRCm39) S144P probably benign Het
Washc2 T G 6: 116,185,965 (GRCm39) *58G probably null Het
Zfp354a T A 11: 50,960,876 (GRCm39) S362R 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
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'- GACGGTGATCATGACGGTTGTC -3'
(R):5'- AAGAGTCCATGTTGATCTCGC -3'

Sequencing Primer
(F):5'- TTGTCAGGATGAGGTTGAAGAGC -3'
(R):5'- GTCCATGTTGATCTCGCAAGTAGAAG -3'
Posted On 2016-07-22