Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03115:Cers2'

419355

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cers2

Ensembl Gene

ENSMUSG00000015714

Gene Name

ceramide synthase 2

Synonyms

Trh3, 0610013I17Rik, Lass2, CerS2

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.883) question?

Stock #

IGL03115

Quality Score

Status

Chromosome

Chromosomal Location

95314791-95323599 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95321352 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 162 (D162G)

Ref Sequence

ENSEMBL: ENSMUSP00000121110 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000015858
AA Change: D162G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000015858
Gene: ENSMUSG00000015714
AA Change: D162G

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 damaging
Transcript: ENSMUST00000129267
AA Change: D162G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121110
Gene: ENSMUSG00000015714
AA Change: D162G

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

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 damaging
Transcript: ENSMUST00000139866
AA Change: D162G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120190
Gene: ENSMUSG00000015714
AA Change: D162G

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: ENSMUST00000142398

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154055

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156850

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	T	A	14: 68,571,353	H302L	probably damaging	Het
Adamts12	T	A	15: 11,263,336	C595S	probably damaging	Het
Arid2	G	A	15: 96,370,273	V756I	probably damaging	Het
Asah1	A	T	8: 41,360,299	W26R	possibly damaging	Het
Brinp1	C	T	4: 68,904,736		probably null	Het
Clasp1	G	T	1: 118,501,323	E106*	probably null	Het
Col12a1	T	C	9: 79,681,437	E1132G	probably damaging	Het
Dhdds	G	T	4: 133,982,871	H196N	probably benign	Het
Eps8	T	C	6: 137,527,381	D118G	probably damaging	Het
Fmo9	A	G	1: 166,677,651	S7P	probably damaging	Het
Gamt	A	G	10: 80,258,438	L197P	probably damaging	Het
Grb7	A	G	11: 98,451,119	I82V	probably damaging	Het
Hectd2	T	C	19: 36,599,721		probably null	Het
Ilk	T	C	7: 105,740,335	V83A	probably damaging	Het
Kif21a	T	A	15: 90,985,395	I418F	probably damaging	Het
Kndc1	A	G	7: 139,921,509	I905V	probably benign	Het
Lyl1	C	T	8: 84,702,671	P3L	possibly damaging	Het
Morc3	T	C	16: 93,871,083	I710T	probably damaging	Het
Nefm	T	C	14: 68,120,279		probably benign	Het
Olfr452	A	G	6: 42,790,665	T209A	probably benign	Het
Olfr937	C	A	9: 39,059,963	R234S	probably damaging	Het
Olfr975	T	C	9: 39,950,744	E9G	probably damaging	Het
Pard6g	T	G	18: 80,079,853	L34W	probably damaging	Het
Patj	C	T	4: 98,443,803	S562L	probably damaging	Het
Pcsk4	A	G	10: 80,329,049	I61T	probably damaging	Het
Pcsk7	T	A	9: 45,914,372	H300Q	probably damaging	Het
Pip5kl1	A	G	2: 32,580,021	D288G	probably damaging	Het
Plxnb2	T	A	15: 89,162,438		probably benign	Het
Poldip2	T	C	11: 78,521,144		probably benign	Het
Ralgapa2	T	C	2: 146,424,814	Y614C	probably damaging	Het
Rarres1	C	A	3: 67,495,812		probably null	Het
Samd3	C	T	10: 26,271,708	T427M	probably damaging	Het
Skap1	A	G	11: 96,702,620	I98V	probably benign	Het
Skint11	T	C	4: 114,244,623	S87P	probably damaging	Het
Slc22a22	T	G	15: 57,263,274	E133A	probably damaging	Het
Slc23a2	T	C	2: 132,091,265	Y91C	probably damaging	Het
Slc6a20b	T	A	9: 123,597,338	E494V	possibly damaging	Het
Slco1a4	A	C	6: 141,817,859	M377R	probably damaging	Het
Slco1a4	A	T	6: 141,819,603	D304E	probably benign	Het
Srpk2	T	C	5: 23,524,618		probably null	Het
Supt3	T	G	17: 45,041,227	C271W	probably damaging	Het
Taar7d	C	A	10: 24,027,641	F140L	probably benign	Het
Tmbim7	T	C	5: 3,679,158	*225Q	probably null	Het
Tpst1	T	C	5: 130,101,911	I74T	probably damaging	Het
Utp3	T	C	5: 88,555,320	V236A	possibly damaging	Het
Vmn2r55	A	T	7: 12,670,631	F282I	probably damaging	Het
Vwa5b1	A	T	4: 138,600,149	I372N	possibly damaging	Het
Wtip	C	T	7: 34,125,533	A209T	probably damaging	Het
Zbbx	T	C	3: 75,078,560	D395G	probably benign	Het
Zfp273	A	T	13: 67,825,650	H299L	probably damaging	Het
Zfp459	G	A	13: 67,408,677	R96*	probably null	Het

Other mutations in Cers2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Cers2	APN	3	95321900	missense	probably damaging	1.00
IGL00328:Cers2	APN	3	95320686	missense	probably benign	0.37
IGL01561:Cers2	APN	3	95322161	unclassified	probably null
IGL02993:Cers2	APN	3	95320085	missense	probably benign	0.00
IGL03232:Cers2	APN	3	95320157	missense	probably damaging	0.97
R0118:Cers2	UTSW	3	95320226	missense	probably benign	0.00
R2849:Cers2	UTSW	3	95322459	missense	probably benign	0.42
R4709:Cers2	UTSW	3	95320223	missense	possibly damaging	0.82
R5320:Cers2	UTSW	3	95320994	missense	probably null	0.99
R5662:Cers2	UTSW	3	95320984	missense	probably damaging	1.00
R5821:Cers2	UTSW	3	95321697	intron	probably benign
R6808:Cers2	UTSW	3	95321009	missense	probably benign	0.27
R7049:Cers2	UTSW	3	95321654	missense	probably damaging	1.00
R7117:Cers2	UTSW	3	95320761	critical splice donor site	probably null
R7388:Cers2	UTSW	3	95321345	missense	probably benign	0.14

Posted On

2016-08-02