Mutagenetix > Incidental Mutation

Incidental Mutation 'R2849:Cers2'

251923

Institutional Source

Beutler Lab

Gene Symbol

Cers2

Ensembl Gene

ENSMUSG00000015714

Gene Name

ceramide synthase 2

Synonyms

CerS2, Trh3, 0610013I17Rik, Lass2

MMRRC Submission

040442-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R2849 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95222102-95230910 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95229770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 330 (F330L)

Ref Sequence

ENSEMBL: ENSMUSP00000015858 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015841] [ENSMUST00000015858] [ENSMUST00000107170] [ENSMUST00000107171] [ENSMUST00000129267] [ENSMUST00000139498] [ENSMUST00000139866]

AlphaFold

Q924Z4

Predicted Effect

probably benign
Transcript: ENSMUST00000015841

SMART Domains

Protein: ENSMUSP00000015841
Gene: ENSMUSG00000015697

Domain	Start	End	E-Value	Type
low complexity region	11	23	N/A	INTRINSIC
low complexity region	121	131	N/A	INTRINSIC
TUDOR	256	318	6.16e-8	SMART
TUDOR	346	401	1.03e-9	SMART
low complexity region	451	471	N/A	INTRINSIC
low complexity region	496	516	N/A	INTRINSIC
low complexity region	529	568	N/A	INTRINSIC
MBD	615	690	4.63e-33	SMART
PreSET	697	804	1.75e-41	SMART
SET	821	1289	1.76e-41	SMART
PostSET	1292	1308	1.88e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000015858
AA Change: F330L

PolyPhen 2 Score 0.420 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000015858
Gene: ENSMUSG00000015714
AA Change: F330L

Domain	Start	End	E-Value	Type
transmembrane domain	46	68	N/A	INTRINSIC
HOX	71	132	3.08e-2	SMART
TLC	131	332	1.17e-81	SMART
low complexity region	337	360	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107170

SMART Domains

Protein: ENSMUSP00000102788
Gene: ENSMUSG00000015697

Domain	Start	End	E-Value	Type
low complexity region	11	23	N/A	INTRINSIC
low complexity region	121	131	N/A	INTRINSIC
TUDOR	256	318	6.16e-8	SMART
TUDOR	346	401	1.03e-9	SMART
low complexity region	451	471	N/A	INTRINSIC
low complexity region	496	516	N/A	INTRINSIC
low complexity region	529	568	N/A	INTRINSIC
MBD	615	690	4.63e-33	SMART
PreSET	697	804	1.75e-41	SMART
SET	821	1289	1.76e-41	SMART
PostSET	1292	1308	1.88e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107171

SMART Domains

Protein: ENSMUSP00000102789
Gene: ENSMUSG00000015697

Domain	Start	End	E-Value	Type
low complexity region	11	23	N/A	INTRINSIC
low complexity region	121	131	N/A	INTRINSIC
TUDOR	256	318	6.16e-8	SMART
TUDOR	346	401	1.03e-9	SMART
low complexity region	451	471	N/A	INTRINSIC
low complexity region	495	515	N/A	INTRINSIC
low complexity region	528	567	N/A	INTRINSIC
MBD	614	689	4.63e-33	SMART
PreSET	696	803	1.75e-41	SMART
SET	820	1288	1.76e-41	SMART
PostSET	1291	1307	1.88e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124638

Predicted Effect

probably benign
Transcript: ENSMUST00000129267

SMART Domains

Protein: ENSMUSP00000121110
Gene: ENSMUSG00000015714

Domain	Start	End	E-Value	Type
transmembrane domain	46	68	N/A	INTRINSIC
HOX	71	132	3.08e-2	SMART
transmembrane domain	136	155	N/A	INTRINSIC
transmembrane domain	175	197	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133748

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134702

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142398

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154055

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156850

Predicted Effect

probably benign
Transcript: ENSMUST00000139498

SMART Domains

Protein: ENSMUSP00000122672
Gene: ENSMUSG00000015714

Domain	Start	End	E-Value	Type
Pfam:Homeobox	65	127	5.2e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139866

SMART Domains

Protein: ENSMUSP00000120190
Gene: ENSMUSG00000015714

Domain	Start	End	E-Value	Type
transmembrane domain	46	68	N/A	INTRINSIC
HOX	71	132	3.08e-2	SMART
TLC	131	246	4.28e-11	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that has sequence similarity to yeast longevity assurance gene 1. Mutation or overexpression of the related gene in yeast has been shown to alter yeast lifespan. The human protein may play a role in the regulation of cell growth. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit abnormal ceramide species and myelin sheath defects and develop hepatocellular carcinoma. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	G	C	17: 24,508,481 (GRCm39)	T1018R	probably damaging	Het
Abca8a	T	C	11: 109,932,931 (GRCm39)	D1231G	probably damaging	Het
Adcy7	A	G	8: 89,054,021 (GRCm39)	I1017V	probably benign	Het
Agpat2	A	G	2: 26,487,251 (GRCm39)	I109T	probably damaging	Het
Aldh9a1	G	A	1: 167,180,197 (GRCm39)	R97H	probably damaging	Het
Als2	G	A	1: 59,245,697 (GRCm39)	T593M	probably damaging	Het
Ap3d1	G	C	10: 80,577,742 (GRCm39)	H28Q	possibly damaging	Het
Atxn1	A	T	13: 45,720,175 (GRCm39)	D573E	probably damaging	Het
Begain	T	A	12: 108,999,044 (GRCm39)	M576L	probably benign	Het
Bod1l	T	C	5: 41,995,419 (GRCm39)	N109S	probably damaging	Het
Boll	A	G	1: 55,385,532 (GRCm39)	M131T	possibly damaging	Het
Celf2	T	C	2: 6,608,936 (GRCm39)	R282G	probably damaging	Het
Chst13	T	C	6: 90,286,140 (GRCm39)	D274G	probably benign	Het
Cimap1a	A	G	7: 140,429,182 (GRCm39)	T156A	probably benign	Het
Cstdc5	T	A	16: 36,187,814 (GRCm39)	Q17L	probably damaging	Het
Dclk2	A	G	3: 86,700,530 (GRCm39)	V649A	probably damaging	Het
Deaf1	T	C	7: 140,894,367 (GRCm39)	*54W	probably null	Het
Fbf1	C	T	11: 116,048,514 (GRCm39)		probably null	Het
Fbxo32	C	T	15: 58,071,368 (GRCm39)	S71N	probably benign	Het
Fbxo42	T	A	4: 140,927,821 (GRCm39)	N700K	probably damaging	Het
Fis1	T	C	5: 136,991,971 (GRCm39)	I55T	possibly damaging	Het
Fyco1	A	T	9: 123,663,891 (GRCm39)	L121*	probably null	Het
Gm2381	G	A	7: 42,469,831 (GRCm39)	P98S	probably damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Gtf2ird1	G	A	5: 134,387,861 (GRCm39)	T946I	probably damaging	Het
Hmcn1	G	T	1: 150,439,350 (GRCm39)	Y5494*	probably null	Het
Josd2	A	G	7: 44,118,397 (GRCm39)		probably null	Het
Lfng	T	A	5: 140,597,622 (GRCm39)	D149E	probably damaging	Het
Lrp1	C	T	10: 127,378,165 (GRCm39)	A4052T	probably damaging	Het
Lrrtm3	T	C	10: 63,924,810 (GRCm39)	N119S	probably damaging	Het
Lypd6	C	T	2: 50,055,664 (GRCm39)	P38L	probably damaging	Het
Msl3l2	T	C	10: 55,991,538 (GRCm39)	C88R	probably benign	Het
Nsd1	A	G	13: 55,361,505 (GRCm39)	T158A	probably damaging	Het
Nudt22	A	T	19: 6,970,852 (GRCm39)	S239R	probably benign	Het
Or4g7	T	C	2: 111,309,699 (GRCm39)	M190T	probably benign	Het
Or52r1c	A	T	7: 102,735,319 (GRCm39)	D193V	probably damaging	Het
Osbpl8	T	A	10: 111,105,297 (GRCm39)	S251T	probably benign	Het
Otop3	T	C	11: 115,235,384 (GRCm39)	F339L	probably damaging	Het
Pcdhga10	T	A	18: 37,881,253 (GRCm39)	V338E	possibly damaging	Het
Pcnx2	A	G	8: 126,487,666 (GRCm39)	F1779S	probably damaging	Het
Plxna4	T	C	6: 32,162,467 (GRCm39)	K1349E	probably damaging	Het
Poteg	A	T	8: 27,971,704 (GRCm39)	N406I	probably benign	Het
Ppp4r4	T	C	12: 103,573,192 (GRCm39)	V697A	probably benign	Het
Ptpra	C	A	2: 130,386,919 (GRCm39)	H603Q	probably benign	Het
Rnf10	T	C	5: 115,387,171 (GRCm39)	D439G	probably benign	Het
Rnf43	T	A	11: 87,623,093 (GRCm39)	N731K	probably benign	Het
Slc2a4	T	A	11: 69,836,997 (GRCm39)	N116Y	probably damaging	Het
Slc6a15	C	A	10: 103,240,552 (GRCm39)	H392N	probably benign	Het
Slco6d1	C	T	1: 98,394,441 (GRCm39)	T375I	probably benign	Het
Smpd4	A	G	16: 17,460,076 (GRCm39)	D436G	probably damaging	Het
Spata22	G	A	11: 73,244,571 (GRCm39)	W311*	probably null	Het
Syt3	G	A	7: 44,042,866 (GRCm39)	V383I	probably benign	Het
Tle6	T	A	10: 81,430,235 (GRCm39)	I306F	probably damaging	Het
Tox3	G	A	8: 90,975,018 (GRCm39)	Q538*	probably null	Het
Trim24	T	A	6: 37,933,388 (GRCm39)	S656T	probably damaging	Het
Trnau1ap	C	A	4: 132,049,045 (GRCm39)	V119F	possibly damaging	Het
Vmn1r181	G	T	7: 23,683,943 (GRCm39)	S136I	possibly damaging	Het
Vmn1r82	T	C	7: 12,039,333 (GRCm39)	V202A	probably damaging	Het
Zfp607b	G	A	7: 27,401,819 (GRCm39)	V92I	probably benign	Het
Zfp964	G	C	8: 70,116,504 (GRCm39)	C368S	unknown	Het
Zw10	A	G	9: 48,968,941 (GRCm39)		probably null	Het

Other mutations in Cers2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Cers2	APN	3	95,229,211 (GRCm39)	missense	probably damaging	1.00
IGL00328:Cers2	APN	3	95,227,997 (GRCm39)	missense	probably benign	0.37
IGL01561:Cers2	APN	3	95,229,472 (GRCm39)	splice site	probably null
IGL02993:Cers2	APN	3	95,227,396 (GRCm39)	missense	probably benign	0.00
IGL03115:Cers2	APN	3	95,228,663 (GRCm39)	missense	probably damaging	1.00
IGL03232:Cers2	APN	3	95,227,468 (GRCm39)	missense	probably damaging	0.97
R0118:Cers2	UTSW	3	95,227,537 (GRCm39)	missense	probably benign	0.00
R4709:Cers2	UTSW	3	95,227,534 (GRCm39)	missense	possibly damaging	0.82
R5320:Cers2	UTSW	3	95,228,305 (GRCm39)	missense	probably null	0.99
R5662:Cers2	UTSW	3	95,228,295 (GRCm39)	missense	probably damaging	1.00
R5821:Cers2	UTSW	3	95,229,008 (GRCm39)	intron	probably benign
R6808:Cers2	UTSW	3	95,228,320 (GRCm39)	missense	probably benign	0.27
R7049:Cers2	UTSW	3	95,228,965 (GRCm39)	missense	probably damaging	1.00
R7117:Cers2	UTSW	3	95,228,072 (GRCm39)	critical splice donor site	probably null
R7388:Cers2	UTSW	3	95,228,656 (GRCm39)	missense	probably benign	0.14
R8059:Cers2	UTSW	3	95,229,982 (GRCm39)	missense	probably damaging	1.00
R9783:Cers2	UTSW	3	95,229,438 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- GGCCATGTTTACAACTTGCCC -3'
(R):5'- ATGGGGTGGCCATTAGCTAG -3'

Sequencing Primer
(F):5'- AACTTGCCCTTGAATCTGCAGG -3'
(R):5'- CTTCTATCAGCTGTGAAAAGGAC -3'

Posted On

2014-12-04