Mutagenetix > Incidental Mutation

Incidental Mutation 'R8059:Cers2'

619583

Institutional Source

Beutler Lab

Gene Symbol

Cers2

Ensembl Gene

ENSMUSG00000015714

Gene Name

ceramide synthase 2

Synonyms

CerS2, Trh3, 0610013I17Rik, Lass2

MMRRC Submission

067894-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R8059 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95222102-95230910 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95229982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 342 (D342G)

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 damaging
Transcript: ENSMUST00000015858
AA Change: D342G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000015858
Gene: ENSMUSG00000015714
AA Change: D342G

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 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

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

Meta Mutation Damage Score

0.3148

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (58/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,323,279 (GRCm39)	M3372K	probably benign	Het
Abcg3	A	T	5: 105,100,948 (GRCm39)		probably null	Het
Adam19	G	A	11: 46,027,293 (GRCm39)		probably benign	Het
Adgrg6	G	T	10: 14,344,794 (GRCm39)	T53K	probably damaging	Het
Ccdc141	A	C	2: 76,875,095 (GRCm39)	L705R	probably damaging	Het
Cep78	A	T	19: 15,958,876 (GRCm39)	V156E	probably benign	Het
Chl1	T	A	6: 103,651,948 (GRCm39)	I272N	probably damaging	Het
Defb30	A	G	14: 63,273,383 (GRCm39)	*77Q	probably null	Het
Dnai3	C	G	3: 145,752,428 (GRCm39)	R749S	possibly damaging	Het
Dnm3	A	G	1: 161,911,708 (GRCm39)	V63A	probably damaging	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Entpd2	G	T	2: 25,288,096 (GRCm39)	V107L	probably damaging	Het
Hectd1	T	A	12: 51,837,161 (GRCm39)	H799L	possibly damaging	Het
Hira	T	C	16: 18,730,901 (GRCm39)	V200A	probably damaging	Het
Hspd1	T	C	1: 55,120,883 (GRCm39)	K269E	possibly damaging	Het
Kcnj4	T	C	15: 79,369,003 (GRCm39)	S326G	probably benign	Het
Kctd19	T	G	8: 106,122,983 (GRCm39)	I144L	probably benign	Het
Lama4	T	C	10: 38,842,057 (GRCm39)	I36T	probably benign	Het
Lrrn3	T	C	12: 41,504,216 (GRCm39)	T34A	probably benign	Het
Maco1	A	T	4: 134,555,359 (GRCm39)	C371*	probably null	Het
Maml3	A	G	3: 51,764,110 (GRCm39)	S285P	probably damaging	Het
Man2b2	A	G	5: 36,973,504 (GRCm39)	Y492H	probably damaging	Het
Mapk10	G	T	5: 103,114,478 (GRCm39)	N303K	probably damaging	Het
Matn2	C	T	15: 34,345,481 (GRCm39)	R163C	probably damaging	Het
Mtmr7	C	T	8: 41,034,564 (GRCm39)	A253T	probably damaging	Het
Naca	C	T	10: 127,876,372 (GRCm39)	P468L	unknown	Het
Nckap1l	T	C	15: 103,401,714 (GRCm39)	S1084P	possibly damaging	Het
Nek11	T	C	9: 105,040,173 (GRCm39)	*629W	probably null	Het
Nfkb1	C	T	3: 135,299,613 (GRCm39)	A731T	possibly damaging	Het
Nop2	T	C	6: 125,117,775 (GRCm39)	V442A	probably damaging	Het
Oaz2	C	T	9: 65,596,425 (GRCm39)	P163L	probably damaging	Het
Or5p57	T	C	7: 107,665,223 (GRCm39)	T231A	probably benign	Het
Or6d14	C	T	6: 116,533,434 (GRCm39)	T16I	possibly damaging	Het
Or8k23	A	G	2: 86,186,306 (GRCm39)	V140A	probably benign	Het
Pabpc2	A	T	18: 39,907,875 (GRCm39)	N380I	probably benign	Het
Pax3	T	C	1: 78,080,003 (GRCm39)	D461G	probably benign	Het
Pds5b	G	T	5: 150,731,300 (GRCm39)	R1443L	unknown	Het
Per1	G	A	11: 68,997,309 (GRCm39)	R828H	probably damaging	Het
Phlpp2	T	A	8: 110,622,189 (GRCm39)	S144T	probably benign	Het
Plod1	A	T	4: 148,012,941 (GRCm39)	I207N	probably damaging	Het
Psmc6	A	T	14: 45,578,260 (GRCm39)	I208F	probably damaging	Het
Rev3l	T	C	10: 39,719,491 (GRCm39)	S2494P	probably damaging	Het
Rgs3	T	C	4: 62,521,214 (GRCm39)		probably benign	Het
Rtraf	T	C	14: 19,872,631 (GRCm39)		probably benign	Het
Slc17a6	T	A	7: 51,294,792 (GRCm39)	N166K	probably damaging	Het
Slc18a2	A	T	19: 59,272,572 (GRCm39)	T348S	probably benign	Het
Slc39a8	G	T	3: 135,532,347 (GRCm39)	A39S	probably benign	Het
Slc8a3	C	T	12: 81,249,032 (GRCm39)	G799S	probably damaging	Het
Sp1	T	G	15: 102,316,337 (GRCm39)	S46R	possibly damaging	Het
Spta1	A	G	1: 174,045,936 (GRCm39)		probably benign	Het
Stab1	G	A	14: 30,882,198 (GRCm39)	P499L	probably benign	Het
Trav21-dv12	C	A	14: 54,114,178 (GRCm39)	D99E	probably damaging	Het
Trpv6	T	G	6: 41,601,520 (GRCm39)	I467L	probably benign	Het
Ttc41	A	G	10: 86,548,842 (GRCm39)	Y12C	probably benign	Het
Vmn1r233	T	C	17: 21,214,698 (GRCm39)	N84S	probably benign	Het
Vrtn	T	C	12: 84,696,690 (GRCm39)	F480S	probably benign	Het
Zc3h13	C	G	14: 75,565,250 (GRCm39)	R788G	unknown	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
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
R9783:Cers2	UTSW	3	95,229,438 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- TGGCCCACAAGTTCATAACTG -3'
(R):5'- AGGGAAGCTTGGCTAGTTTC -3'

Sequencing Primer
(F):5'- CCCACAAGTTCATAACTGGAAAGGTG -3'
(R):5'- CTTGGCCTCATGCATTGATG -3'

Posted On

2020-01-23