Incidental Mutation 'IGL02232:Sgms2'
ID 285759
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sgms2
Ensembl Gene ENSMUSG00000050931
Gene Name sphingomyelin synthase 2
Synonyms 5133401H06Rik, 4933405A16Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # IGL02232
Quality Score
Status
Chromosome 3
Chromosomal Location 131112634-131197172 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 131116833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 341 (P341S)
Ref Sequence ENSEMBL: ENSMUSP00000087713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090246]
AlphaFold Q9D4B1
Predicted Effect probably benign
Transcript: ENSMUST00000090246
AA Change: P341S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000087713
Gene: ENSMUSG00000050931
AA Change: P341S

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
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810030O07Rik A G X: 12,530,764 (GRCm39) V199A possibly damaging Het
Aco1 T C 4: 40,175,996 (GRCm39) M210T probably damaging Het
Actr10 G A 12: 70,990,289 (GRCm39) E114K probably benign Het
Adam6b T C 12: 113,454,764 (GRCm39) M527T probably benign Het
Ahi1 C T 10: 20,857,274 (GRCm39) T623M probably damaging Het
Aldh8a1 T C 10: 21,271,545 (GRCm39) W424R probably damaging Het
Apeh A T 9: 107,969,071 (GRCm39) S299T probably benign Het
Bbs5 A C 2: 69,485,895 (GRCm39) I147L probably benign Het
Bmp2k T G 5: 97,179,109 (GRCm39) probably benign Het
C2cd6 A G 1: 59,101,651 (GRCm39) F336S probably damaging Het
Cd274 T A 19: 29,359,938 (GRCm39) L248M probably damaging Het
Chsy3 T A 18: 59,542,383 (GRCm39) M507K possibly damaging Het
Clip2 T C 5: 134,531,984 (GRCm39) N572S probably damaging Het
Commd9 A G 2: 101,731,324 (GRCm39) T170A probably benign Het
Cpt1c G A 7: 44,609,580 (GRCm39) S674L probably damaging Het
Dhx33 C A 11: 70,878,030 (GRCm39) R671L probably damaging Het
Dnah5 G A 15: 28,299,386 (GRCm39) E1583K probably damaging Het
Eed G T 7: 89,621,493 (GRCm39) N51K probably damaging Het
Efcab14 A G 4: 115,617,261 (GRCm39) probably benign Het
Ephb2 A C 4: 136,384,762 (GRCm39) M884R probably damaging Het
Foxn2 G T 17: 88,770,479 (GRCm39) A109S probably benign Het
Fut1 A T 7: 45,268,871 (GRCm39) D220V probably damaging Het
Gm6468 C T 5: 95,429,066 (GRCm39) noncoding transcript Het
Gm7964 A T 7: 83,405,515 (GRCm39) noncoding transcript Het
Gm9772 C T 17: 22,226,031 (GRCm39) probably benign Het
Golph3 G T 15: 12,349,578 (GRCm39) M199I probably benign Het
Itpr1 A G 6: 108,394,884 (GRCm39) N1666D probably damaging Het
Itprid1 A G 6: 55,944,922 (GRCm39) T548A unknown Het
Kif12 C T 4: 63,084,732 (GRCm39) E529K probably benign Het
Lpp C T 16: 24,580,895 (GRCm39) R204W probably damaging Het
Lrrc52 T A 1: 167,293,949 (GRCm39) N112I probably damaging Het
Msi1 T A 5: 115,579,506 (GRCm39) probably null Het
Nasp T G 4: 116,461,997 (GRCm39) E170A probably damaging Het
Necab2 T A 8: 120,189,391 (GRCm39) V187E probably damaging Het
Obscn T C 11: 58,929,804 (GRCm39) E5790G probably damaging Het
Or7e176 A T 9: 20,171,511 (GRCm39) D125V probably damaging Het
Or9a7 A G 6: 40,520,980 (GRCm39) L311P probably damaging Het
Pard3b C T 1: 62,205,541 (GRCm39) T445I probably damaging Het
Pcdh10 A G 3: 45,335,377 (GRCm39) I564V probably benign Het
Pcdhb22 T A 18: 37,653,602 (GRCm39) L690Q probably damaging Het
Pemt T A 11: 59,867,680 (GRCm39) T115S probably damaging Het
Plcl2 A G 17: 50,913,669 (GRCm39) N226S possibly damaging Het
Ppp6r1 A G 7: 4,636,341 (GRCm39) S750P probably damaging Het
Prtg T C 9: 72,758,771 (GRCm39) V375A probably damaging Het
Psd3 A C 8: 68,356,797 (GRCm39) M673R probably damaging Het
Ptprt T C 2: 161,372,437 (GRCm39) I1392V probably damaging Het
Rlf G A 4: 121,039,811 (GRCm39) T200I probably benign Het
Robo1 G A 16: 72,768,872 (GRCm39) G479D possibly damaging Het
Rpe65 A G 3: 159,309,988 (GRCm39) D87G possibly damaging Het
Sema3g T C 14: 30,943,181 (GRCm39) V148A probably damaging Het
Skint7 A T 4: 111,839,225 (GRCm39) Q173L possibly damaging Het
Slc2a9 G A 5: 38,594,013 (GRCm39) A150V probably benign Het
Slc35c2 A G 2: 165,124,801 (GRCm39) L58P probably damaging Het
Slc7a6 G A 8: 106,923,206 (GRCm39) C495Y possibly damaging Het
Smurf1 G A 5: 144,823,248 (GRCm39) P458L probably damaging Het
Spag1 C T 15: 36,221,710 (GRCm39) T601I probably benign Het
Spink8 A T 9: 109,649,665 (GRCm39) Q49L possibly damaging Het
Spout1 A T 2: 30,065,266 (GRCm39) Y284N probably damaging Het
Srrm1 A T 4: 135,080,427 (GRCm39) M1K probably null Het
Stxbp5l A G 16: 37,150,257 (GRCm39) L116P probably damaging Het
Tlr9 T C 9: 106,102,136 (GRCm39) F476L probably damaging Het
Tmem41b A G 7: 109,577,960 (GRCm39) V108A probably damaging Het
Tra2b A G 16: 22,067,790 (GRCm39) probably benign Het
Trio G T 15: 27,902,647 (GRCm39) H271Q probably benign Het
Ttn A G 2: 76,723,263 (GRCm39) probably benign Het
Usp51 A T X: 151,791,669 (GRCm39) H421L probably damaging Het
Vmn2r29 A T 7: 7,244,810 (GRCm39) W355R probably damaging Het
Vpreb1a T C 16: 16,686,603 (GRCm39) N96D possibly damaging Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zp3r C A 1: 130,524,404 (GRCm39) C213F 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
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
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
Posted On 2015-04-16