Mutagenetix > Incidental Mutation

Incidental Mutation 'R5050:Sgms2'

394584

Institutional Source

Beutler Lab

Gene Symbol

Sgms2

Ensembl Gene

ENSMUSG00000050931

Gene Name

sphingomyelin synthase 2

Synonyms

5133401H06Rik, 4933405A16Rik

MMRRC Submission

042640-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R5050 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131112634-131197172 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 131124005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 232 (V232M)

Ref Sequence

ENSEMBL: ENSMUSP00000087713 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090246]

AlphaFold

Q9D4B1

Predicted Effect

probably benign
Transcript: ENSMUST00000090246
AA Change: V232M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000087713
Gene: ENSMUSG00000050931
AA Change: V232M

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.7%
20x: 93.6%

Validation Efficiency

100% (69/69)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,989,822 (GRCm39)		probably benign	Het
Ap3m1	A	G	14: 21,094,843 (GRCm39)	I108T	probably benign	Het
Apobec1	T	C	6: 122,568,061 (GRCm39)	M1V	probably null	Het
Aqr	A	T	2: 113,943,090 (GRCm39)	L1161*	probably null	Het
Aqr	A	T	2: 114,000,506 (GRCm39)		probably null	Het
Arhgef37	A	G	18: 61,637,402 (GRCm39)	I420T	probably benign	Het
Cacna1g	C	T	11: 94,350,541 (GRCm39)	E435K	probably damaging	Het
Card6	G	T	15: 5,129,858 (GRCm39)	H513N	probably benign	Het
Ccdc158	A	C	5: 92,814,738 (GRCm39)	F29L	probably benign	Het
Ccr6	T	C	17: 8,474,936 (GRCm39)	L47S	probably damaging	Het
Cdc42bpa	T	A	1: 179,900,018 (GRCm39)	Y444*	probably null	Het
Cdh17	A	G	4: 11,784,654 (GRCm39)	Y270C	probably damaging	Het
Cdh9	T	C	15: 16,778,233 (GRCm39)	F16S	probably benign	Het
Cdkl1	T	C	12: 69,804,014 (GRCm39)	K141R	probably damaging	Het
Cfhr4	T	A	1: 139,664,578 (GRCm39)	I494F	probably damaging	Het
Chd4	T	C	6: 125,084,443 (GRCm39)	Y692H	probably damaging	Het
Dhrs7	T	A	12: 72,704,184 (GRCm39)	D104V	probably damaging	Het
Dhtkd1	A	T	2: 5,922,500 (GRCm39)	L553Q	probably benign	Het
Dnah7a	T	G	1: 53,536,255 (GRCm39)	D2596A	probably benign	Het
Dync1li2	T	C	8: 105,164,073 (GRCm39)	K151E	probably damaging	Het
Eno4	C	T	19: 58,943,928 (GRCm39)	H297Y	probably benign	Het
Epg5	T	A	18: 78,019,156 (GRCm39)	D976E	possibly damaging	Het
Fhip2a	T	A	19: 57,371,602 (GRCm39)	F571L	probably damaging	Het
Gm4553	C	A	7: 141,718,773 (GRCm39)	K218N	unknown	Het
Gpld1	A	T	13: 25,146,739 (GRCm39)	T234S	probably benign	Het
Gtpbp6	A	T	5: 110,252,567 (GRCm39)		probably benign	Het
Gucy2g	T	C	19: 55,229,367 (GRCm39)	E101G	probably benign	Het
Gvin3	T	C	7: 106,196,179 (GRCm39)		noncoding transcript	Het
Hira	G	A	16: 18,744,609 (GRCm39)	R442K	possibly damaging	Het
Hrh3	A	G	2: 179,742,350 (GRCm39)	L394P	probably damaging	Het
Igkv1-110	T	A	6: 68,248,176 (GRCm39)	F95Y	probably damaging	Het
Iqgap3	T	G	3: 87,997,493 (GRCm39)	V223G	probably damaging	Het
Itpk1	T	C	12: 102,671,069 (GRCm39)	T3A	probably damaging	Het
Jag1	A	G	2: 136,927,074 (GRCm39)	V895A	possibly damaging	Het
Kazn	G	A	4: 141,845,514 (GRCm39)		probably benign	Het
Large2	A	T	2: 92,198,124 (GRCm39)	L282Q	probably benign	Het
Lgmn	A	G	12: 102,369,680 (GRCm39)		probably null	Het
Lrp4	A	T	2: 91,322,767 (GRCm39)	I1119F	probably benign	Het
Map3k19	T	C	1: 127,751,299 (GRCm39)	H684R	probably benign	Het
Mier3	C	T	13: 111,851,107 (GRCm39)	A367V	possibly damaging	Het
Mpdz	A	G	4: 81,213,685 (GRCm39)	V1579A	probably benign	Het
Mroh2b	A	T	15: 4,929,932 (GRCm39)	D6V	possibly damaging	Het
Myh7b	A	G	2: 155,473,670 (GRCm39)	I1568V	probably benign	Het
Or52e8b	T	A	7: 104,673,594 (GRCm39)	I198F	probably damaging	Het
Plch2	C	T	4: 155,127,766 (GRCm39)		probably benign	Het
Plek	T	C	11: 16,945,216 (GRCm39)	D38G	probably damaging	Het
Polr2f	A	G	15: 79,028,862 (GRCm39)		probably benign	Het
Samsn1	A	G	16: 75,685,645 (GRCm39)	S38P	probably benign	Het
Sf1	C	T	19: 6,422,589 (GRCm39)	T248I	probably damaging	Het
Sharpin	A	T	15: 76,232,530 (GRCm39)	L160H	probably damaging	Het
Sympk	C	T	7: 18,769,967 (GRCm39)	R215C	probably benign	Het
Syn3	T	C	10: 86,243,532 (GRCm39)	T136A	probably benign	Het
Tcam1	G	A	11: 106,176,278 (GRCm39)	V335M	possibly damaging	Het
Tedc1	G	T	12: 113,120,325 (GRCm39)	V56L	possibly damaging	Het
Tenm4	T	C	7: 96,544,995 (GRCm39)	L2337P	probably damaging	Het
Ttn	G	A	2: 76,715,155 (GRCm39)		probably benign	Het
Tysnd1	T	A	10: 61,532,050 (GRCm39)	I234N	probably damaging	Het
Vmn2r51	T	C	7: 9,834,349 (GRCm39)	K230E	probably damaging	Het

Other mutations in Sgms2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TGTATCCACGAGTGACGAAG -3'
(R):5'- AGATACACATCACAGCCTGGTG -3'

Sequencing Primer
(F):5'- GTGAATGGCAAAGCGCATGC -3'
(R):5'- TGGTGACTTTTCTATCCGAATCG -3'

Posted On

2016-06-15