Mutagenetix > Incidental Mutation

Incidental Mutation 'R4709:Cers2'

355461

Institutional Source

Beutler Lab

Gene Symbol

Cers2

Ensembl Gene

ENSMUSG00000015714

Gene Name

ceramide synthase 2

Synonyms

CerS2, Trh3, 0610013I17Rik, Lass2

MMRRC Submission

042018-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R4709 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95222102-95230910 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95227534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 54 (Y54C)

Ref Sequence

ENSEMBL: ENSMUSP00000122672 (fasta)

Gene Model

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

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: Y54C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000015858
Gene: ENSMUSG00000015714
AA Change: Y54C

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

possibly damaging
Transcript: ENSMUST00000129267
AA Change: Y54C

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121110
Gene: ENSMUSG00000015714
AA Change: Y54C

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: ENSMUST00000156850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154055

Predicted Effect

probably benign
Transcript: ENSMUST00000139866
AA Change: Y54C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000120190
Gene: ENSMUSG00000015714
AA Change: Y54C

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

possibly damaging
Transcript: ENSMUST00000139498
AA Change: Y54C

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000122672
Gene: ENSMUSG00000015714
AA Change: Y54C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142398

Meta Mutation Damage Score

0.1644

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

97% (77/79)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	G	A	17: 36,271,069 (GRCm39)	T463M	probably damaging	Het
Arhgap35	C	T	7: 16,297,511 (GRCm39)	G518D	probably damaging	Het
Arhgdia	A	G	11: 120,470,517 (GRCm39)	Y110H	probably damaging	Het
Atp8b3	T	C	10: 80,372,604 (GRCm39)		probably null	Het
Bpifb6	T	A	2: 153,750,436 (GRCm39)	I309N	possibly damaging	Het
Cbr4	T	C	8: 61,943,061 (GRCm39)	V77A	possibly damaging	Het
Cnbp	A	T	6: 87,821,120 (GRCm39)	H145Q	probably damaging	Het
Csmd1	A	T	8: 16,073,905 (GRCm39)	I2030N	possibly damaging	Het
Csmd1	A	G	8: 16,760,522 (GRCm39)		probably null	Het
Dhodh	T	C	8: 110,328,170 (GRCm39)		probably null	Het
Dnah11	T	A	12: 117,982,495 (GRCm39)	Y2558F	probably benign	Het
Dysf	C	A	6: 84,074,697 (GRCm39)	D499E	probably damaging	Het
En1	A	T	1: 120,534,872 (GRCm39)	Y387F	unknown	Het
Ephb2	C	A	4: 136,423,363 (GRCm39)	C305F	probably damaging	Het
Fryl	A	G	5: 73,238,315 (GRCm39)	V1477A	probably benign	Het
Gimap3	A	T	6: 48,742,327 (GRCm39)	L201Q	probably benign	Het
Gm10801	T	G	2: 98,494,246 (GRCm39)		probably null	Het
Grhl1	A	G	12: 24,636,132 (GRCm39)	I283V	possibly damaging	Het
Grid2ip	T	A	5: 143,374,658 (GRCm39)	L926H	probably damaging	Het
Gtf2h2	G	T	13: 100,605,523 (GRCm39)	C82*	probably null	Het
Gtf2ird1	T	C	5: 134,433,588 (GRCm39)	T280A	probably benign	Het
Gzmd	T	C	14: 56,367,698 (GRCm39)	I192V	probably null	Het
Hectd1	A	G	12: 51,834,695 (GRCm39)	V855A	possibly damaging	Het
Hey1	A	G	3: 8,730,963 (GRCm39)		probably benign	Het
Hpx	A	G	7: 105,249,243 (GRCm39)	S19P	probably benign	Het
Incenp	G	A	19: 9,853,964 (GRCm39)	R696W	unknown	Het
Itgam	T	C	7: 127,700,709 (GRCm39)	V493A	probably damaging	Het
Ldlrad3	A	G	2: 101,900,343 (GRCm39)	I53T	probably damaging	Het
Map3k7	G	T	4: 31,985,700 (GRCm39)	E208*	probably null	Het
Myh9	A	T	15: 77,671,717 (GRCm39)	I458N	probably damaging	Het
Myo1c	C	T	11: 75,560,856 (GRCm39)	R770*	probably null	Het
Nectin3	T	A	16: 46,284,306 (GRCm39)	Y126F	possibly damaging	Het
Nek5	A	T	8: 22,573,443 (GRCm39)	N504K	probably damaging	Het
Nlrp4c	T	A	7: 6,068,424 (GRCm39)	H108Q	probably benign	Het
Or10d5	A	T	9: 39,861,165 (GRCm39)	L301M	probably damaging	Het
Or2ak4	T	C	11: 58,649,013 (GRCm39)	V174A	possibly damaging	Het
Or2at1	A	T	7: 99,416,989 (GRCm39)	I207F	probably damaging	Het
Or5h17	A	T	16: 58,820,458 (GRCm39)	T137S	probably benign	Het
Or9a2	G	T	6: 41,748,442 (GRCm39)	Q264K	probably benign	Het
Or9i14	T	A	19: 13,792,814 (GRCm39)	I47F	possibly damaging	Het
Parp6	T	C	9: 59,549,052 (GRCm39)	I507T	probably damaging	Het
Pcdhb12	A	G	18: 37,570,548 (GRCm39)	T565A	probably benign	Het
Pclo	A	G	5: 14,828,572 (GRCm39)	N4676D	unknown	Het
Pdlim1	T	A	19: 40,211,180 (GRCm39)	H278L	probably benign	Het
Pfkfb3	G	A	2: 11,498,719 (GRCm39)	T46M	probably damaging	Het
Plscr2	A	G	9: 92,173,067 (GRCm39)	Y203C	probably damaging	Het
Plxna1	T	C	6: 89,311,733 (GRCm39)	D924G	possibly damaging	Het
Postn	T	A	3: 54,292,031 (GRCm39)		probably benign	Het
Ptpn23	A	G	9: 110,217,924 (GRCm39)	S674P	possibly damaging	Het
Ranbp6	C	T	19: 29,788,984 (GRCm39)	R456Q	probably benign	Het
Rbm43	A	T	2: 51,819,728 (GRCm39)	V46E	probably damaging	Het
Rlig1	T	C	10: 100,414,243 (GRCm39)	I139V	probably benign	Het
Rtn4r	A	G	16: 17,969,046 (GRCm39)	Y158C	probably damaging	Het
Ryr2	A	G	13: 11,731,884 (GRCm39)	I2352T	probably damaging	Het
Sbk2	G	T	7: 4,960,577 (GRCm39)	R198S	possibly damaging	Het
Scube3	G	A	17: 28,386,166 (GRCm39)		probably null	Het
Slc45a1	G	A	4: 150,722,697 (GRCm39)	P396S	probably benign	Het
Slc4a10	A	G	2: 62,087,861 (GRCm39)	D418G	probably null	Het
Smarcad1	A	G	6: 65,052,099 (GRCm39)	T411A	probably benign	Het
Smtn	G	A	11: 3,474,663 (GRCm39)	S716F	probably damaging	Het
Stag1	G	T	9: 100,620,092 (GRCm39)	R65L	probably damaging	Het
Stat1	A	T	1: 52,165,680 (GRCm39)	D92V	probably damaging	Het
Ttn	A	G	2: 76,582,428 (GRCm39)	Y22822H	probably damaging	Het
Vmn1r172	A	G	7: 23,359,606 (GRCm39)	T164A	probably benign	Het
Vmn2r118	A	T	17: 55,917,860 (GRCm39)	D217E	probably damaging	Het
Vmn2r26	A	G	6: 124,030,924 (GRCm39)	E553G	probably damaging	Het
Vmn2r96	T	C	17: 18,803,088 (GRCm39)	F333L	probably benign	Het
Ypel5	G	A	17: 73,155,726 (GRCm39)	R98H	probably benign	Het
Zfp719	C	T	7: 43,239,656 (GRCm39)	H415Y	probably damaging	Het
Zyg11a	T	C	4: 108,062,268 (GRCm39)	S176G	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
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
R2849:Cers2	UTSW	3	95,229,770 (GRCm39)	missense	probably benign	0.42
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'- TCACTCAGGATGCTCCAGAC -3'
(R):5'- ACTATTGACCAGGCGAGGAG -3'

Sequencing Primer
(F):5'- AGGATGCTCCAGACCTTGTATGAC -3'
(R):5'- CAAGGCTGGGGATGCTG -3'

Posted On

2015-10-21