Mutagenetix > Incidental Mutation

Incidental Mutation 'R7117:Cers2'

551824

Institutional Source

Beutler Lab

Gene Symbol

Cers2

Ensembl Gene

ENSMUSG00000015714

Gene Name

ceramide synthase 2

Synonyms

CerS2, Trh3, 0610013I17Rik, Lass2

MMRRC Submission

045208-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.932) question?

Stock #

R7117 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95222102-95230910 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 95228072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000015858 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015841] [ENSMUST00000015858] [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 null
Transcript: ENSMUST00000015858

SMART Domains

Protein: ENSMUSP00000015858
Gene: ENSMUSG00000015714

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 null
Transcript: ENSMUST00000015858

SMART Domains

Protein: ENSMUSP00000015858
Gene: ENSMUSG00000015714

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

probably null
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

probably null
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 null
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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

97% (95/98)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,339,250 (GRCm39)	Y254C	probably benign	Het
4930480E11Rik	G	T	X: 77,414,311 (GRCm39)	M345I	probably benign	Het
Adam12	T	C	7: 133,518,191 (GRCm39)	I650V	probably benign	Het
Adam39	G	T	8: 41,279,279 (GRCm39)	G557C	probably damaging	Het
Ak5	A	G	3: 152,321,493 (GRCm39)		probably null	Het
Arhgef10l	C	T	4: 140,291,497 (GRCm39)		probably null	Het
Arhgef37	C	T	18: 61,637,481 (GRCm39)	E394K	probably benign	Het
Baz2b	A	G	2: 59,742,841 (GRCm39)	V13A		Het
Bnc1	G	T	7: 81,623,109 (GRCm39)	A706E	possibly damaging	Het
Bscl2	G	A	19: 8,825,878 (GRCm39)	A421T	possibly damaging	Het
Btn1a1	A	C	13: 23,643,415 (GRCm39)	W345G	possibly damaging	Het
C3	A	T	17: 57,519,655 (GRCm39)	M1199K	probably benign	Het
Ccdc18	T	G	5: 108,296,835 (GRCm39)	L213V	possibly damaging	Het
Chpt1	T	A	10: 88,316,711 (GRCm39)	H249L	probably damaging	Het
Cited2	A	G	10: 17,600,364 (GRCm39)	E224G	possibly damaging	Het
Cntn5	T	A	9: 10,904,704 (GRCm39)		probably benign	Het
Col28a1	A	G	6: 8,013,122 (GRCm39)	S977P	possibly damaging	Het
Col6a1	T	C	10: 76,560,843 (GRCm39)	K52E	probably damaging	Het
Cpne2	T	A	8: 95,282,172 (GRCm39)	H239Q	probably damaging	Het
Cr2	A	T	1: 194,842,909 (GRCm39)	N244K	possibly damaging	Het
Csf2rb2	T	C	15: 78,169,385 (GRCm39)	D590G	probably damaging	Het
Defb25	A	C	2: 152,464,380 (GRCm39)	C55G	probably damaging	Het
Dnah7b	A	T	1: 46,391,973 (GRCm39)		probably null	Het
Dvl3	T	A	16: 20,346,072 (GRCm39)	Y467*	probably null	Het
Elapor2	T	A	5: 9,495,384 (GRCm39)	C729*	probably null	Het
Extl2	T	C	3: 115,821,088 (GRCm39)	S312P	probably damaging	Het
Fam178b	T	C	1: 36,639,548 (GRCm39)	T313A	probably benign	Het
Fam186b	A	G	15: 99,183,471 (GRCm39)	Y58H	probably damaging	Het
Fat1	A	T	8: 45,484,505 (GRCm39)	I3248L	probably damaging	Het
Fat2	A	G	11: 55,172,088 (GRCm39)	F2875S	probably damaging	Het
Flnb	T	A	14: 7,894,214 (GRCm38)	N760K	probably benign	Het
Galnt14	T	C	17: 73,801,190 (GRCm39)	H544R	probably benign	Het
Gpr137c	A	C	14: 45,516,484 (GRCm39)	R357S	probably damaging	Het
Grk2	A	G	19: 4,340,630 (GRCm39)		probably null	Het
Hectd2	A	T	19: 36,577,055 (GRCm39)	T342S	probably benign	Het
Hjv	G	T	3: 96,435,542 (GRCm39)	V267L	possibly damaging	Het
Ildr2	G	T	1: 166,123,380 (GRCm39)	G270C	probably damaging	Het
Insm2	C	A	12: 55,647,357 (GRCm39)	A367D	probably damaging	Het
Kcnh5	T	A	12: 75,161,219 (GRCm39)	I230F	possibly damaging	Het
Keg1	T	A	19: 12,687,042 (GRCm39)	S24T	probably damaging	Het
Kera	A	T	10: 97,448,714 (GRCm39)	E311D	probably benign	Het
Kit	T	A	5: 75,767,758 (GRCm39)	I47K	probably benign	Het
Megf6	A	G	4: 154,343,379 (GRCm39)	T663A	possibly damaging	Het
Mettl21c	G	A	1: 44,049,808 (GRCm39)	A79V	probably damaging	Het
Mfsd1	T	A	3: 67,507,391 (GRCm39)		probably null	Het
Mob3b	A	G	4: 34,985,914 (GRCm39)		probably null	Het
Morc2b	T	A	17: 33,356,926 (GRCm39)	H282L	probably benign	Het
Mtpap	T	C	18: 4,380,889 (GRCm39)		probably null	Het
Mtus1	A	G	8: 41,536,621 (GRCm39)	V365A	possibly damaging	Het
Muc5ac	T	A	7: 141,367,559 (GRCm39)	Y2993*	probably null	Het
Mycbp2	A	C	14: 103,391,513 (GRCm39)	F3422V	probably benign	Het
Ndufb7	T	A	8: 84,297,490 (GRCm39)	D48E	probably benign	Het
Nxpe5	A	G	5: 138,237,704 (GRCm39)	Y88C	probably damaging	Het
Or51a6	T	A	7: 102,604,185 (GRCm39)	M208L	probably benign	Het
Or5d3	A	G	2: 88,174,905 (GRCm39)	L64P	probably damaging	Het
Osbpl5	T	A	7: 143,263,520 (GRCm39)	D121V	probably benign	Het
Oxnad1	A	T	14: 31,813,608 (GRCm39)	H3L	probably benign	Het
Pam	C	A	1: 97,904,841 (GRCm39)		probably benign	Het
Papolg	T	C	11: 23,845,207 (GRCm39)		probably benign	Het
Pax1	G	A	2: 147,208,190 (GRCm39)	G266D	probably damaging	Het
Pde11a	A	T	2: 75,906,348 (GRCm39)	M623K	probably damaging	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,712,167 (GRCm39)		probably benign	Het
Phf21a	A	T	2: 92,189,502 (GRCm39)	Q587L	probably benign	Het
Plcb3	A	G	19: 6,941,746 (GRCm39)	L336P	probably damaging	Het
Pnp2	T	C	14: 51,201,931 (GRCm39)	*306Q	probably null	Het
Pou5f2	A	G	13: 78,173,392 (GRCm39)	I111M	probably benign	Het
Pramel32	T	A	4: 88,547,195 (GRCm39)	M246L	probably damaging	Het
Prmt3	G	T	7: 49,467,843 (GRCm39)	A350S	probably benign	Het
Rac3	A	T	11: 120,614,343 (GRCm39)	R163*	probably null	Het
Raly	G	T	2: 154,699,432 (GRCm39)	V79L	probably benign	Het
Rbm20	A	T	19: 53,839,989 (GRCm39)	T993S	possibly damaging	Het
Rwdd3	A	G	3: 120,964,987 (GRCm39)	L56P	probably benign	Het
Serpina3a	C	T	12: 104,082,436 (GRCm39)	H70Y	possibly damaging	Het
Sez6l2	A	C	7: 126,552,915 (GRCm39)	E227A	possibly damaging	Het
Shank1	C	T	7: 43,976,585 (GRCm39)	A561V	unknown	Het
Sidt2	C	T	9: 45,864,517 (GRCm39)	V71I	probably benign	Het
Slc35f6	T	C	5: 30,815,051 (GRCm39)	L326P	probably damaging	Het
Sox2	G	A	3: 34,705,075 (GRCm39)	G171S	possibly damaging	Het
Spef2	G	A	15: 9,729,924 (GRCm39)	R65C	probably damaging	Het
Spmap2	A	T	10: 79,420,741 (GRCm39)		probably null	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Tada2a	T	A	11: 83,976,514 (GRCm39)	I327F	probably damaging	Het
Tex2	A	G	11: 106,435,071 (GRCm39)	V785A	unknown	Het
Thada	C	A	17: 84,538,214 (GRCm39)		probably null	Het
Tmed1	G	A	9: 21,420,550 (GRCm39)	T94M	possibly damaging	Het
Tsr1	G	T	11: 74,790,360 (GRCm39)	M149I	probably benign	Het
Ttc8	T	C	12: 98,942,761 (GRCm39)	Y434H	possibly damaging	Het
Ttn	A	G	2: 76,578,519 (GRCm39)	Y24125H	probably damaging	Het
Ttn	G	T	2: 76,552,253 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,773,235 (GRCm39)	I2435T	unknown	Het
Uggt2	T	C	14: 119,251,938 (GRCm39)	I1174M	probably benign	Het
Unc13b	T	C	4: 43,216,544 (GRCm39)	I281T	probably benign	Het
Usp1	G	T	4: 98,817,127 (GRCm39)	K106N	possibly damaging	Het
Vwa3b	A	G	1: 37,174,634 (GRCm39)	D15G		Het
Zfp28	G	A	7: 6,397,461 (GRCm39)	C632Y	probably damaging	Het
Zfp68	T	C	5: 138,604,580 (GRCm39)	D581G	probably benign	Het
Zmynd10	A	C	9: 107,424,716 (GRCm39)	S21R	probably benign	Het
Zswim4	C	T	8: 84,940,681 (GRCm39)	R806H	probably damaging	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
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
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'- GCCCAGAATTAAGTCTTGCAG -3'
(R):5'- ACCTCCACCTAGGCATAGTAAG -3'

Sequencing Primer
(F):5'- CCAGAATTAAGTCTTGCAGTACTTTC -3'
(R):5'- GACCAGTATATTCAGCCTTCAGATC -3'

Posted On

2019-05-15