Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00328:Cers2'

6817

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cers2

Ensembl Gene

ENSMUSG00000015714

Gene Name

ceramide synthase 2

Synonyms

CerS2, Trh3, 0610013I17Rik, Lass2

Accession Numbers

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

IGL00328

Quality Score

Status

Chromosome

Chromosomal Location

95222102-95230910 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95227997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Isoleucine at position 73 (K73I)

Ref Sequence

ENSEMBL: ENSMUSP00000122672 (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: K73I

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000015858
Gene: ENSMUSG00000015714
AA Change: K73I

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
AA Change: K73I

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000121110
Gene: ENSMUSG00000015714
AA Change: K73I

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

probably benign
Transcript: ENSMUST00000139498
AA Change: K73I

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000122672
Gene: ENSMUSG00000015714
AA Change: K73I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000139866
AA Change: K73I

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000120190
Gene: ENSMUSG00000015714
AA Change: K73I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142398

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134702

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154055

Coding Region Coverage

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: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	C	T	15: 102,247,809 (GRCm39)	V378I	possibly damaging	Het
Acad12	C	T	5: 121,742,316 (GRCm39)		probably benign	Het
Bap1	T	G	14: 30,975,526 (GRCm39)	S123R	probably damaging	Het
Dab1	T	C	4: 104,545,635 (GRCm39)	V240A	possibly damaging	Het
Fry	C	T	5: 150,263,869 (GRCm39)	R171*	probably null	Het
Krtap5-3	G	T	7: 141,755,612 (GRCm39)		probably benign	Het
Ltn1	A	G	16: 87,215,378 (GRCm39)	I419T	probably benign	Het
Map4k4	A	G	1: 40,043,976 (GRCm39)	R540G	probably damaging	Het
Mki67	A	C	7: 135,298,424 (GRCm39)	S2203R	probably benign	Het
Ptrh1	G	T	2: 32,666,353 (GRCm39)		probably null	Het
Tnfaip8	A	G	18: 50,223,393 (GRCm39)	E67G	probably damaging	Het
Vmn1r2	T	A	4: 3,172,807 (GRCm39)	L242Q	probably damaging	Het
Vmn2r52	A	G	7: 9,905,344 (GRCm39)	L165P	probably benign	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
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
R2849:Cers2	UTSW	3	95,229,770 (GRCm39)	missense	probably benign	0.42
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

Posted On

2012-04-20