Mutagenetix > Incidental Mutation

Incidental Mutation 'R7388:Cers2'

573239

Institutional Source

Beutler Lab

Gene Symbol

Cers2

Ensembl Gene

ENSMUSG00000015714

Gene Name

ceramide synthase 2

Synonyms

CerS2, Trh3, 0610013I17Rik, Lass2

MMRRC Submission

045470-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.932) question?

Stock #

R7388 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95222102-95230910 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 95228656 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 160 (F160V)

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 benign
Transcript: ENSMUST00000015858
AA Change: F160V

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000015858
Gene: ENSMUSG00000015714
AA Change: F160V

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
AA Change: F160V

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000121110
Gene: ENSMUSG00000015714
AA Change: F160V

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
AA Change: F160V

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000120190
Gene: ENSMUSG00000015714
AA Change: F160V

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: 99.3%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	T	C	18: 67,556,023 (GRCm39)	E436G	probably damaging	Het
Agbl5	T	A	5: 31,060,583 (GRCm39)	L759*	probably null	Het
Ankrd13b	T	C	11: 77,363,583 (GRCm39)	D460G	probably benign	Het
Apol10a	A	G	15: 77,373,225 (GRCm39)	D287G	possibly damaging	Het
Arhgap44	A	T	11: 64,915,094 (GRCm39)	Y391*	probably null	Het
Asz1	G	T	6: 18,074,900 (GRCm39)	S271R	probably benign	Het
AW554918	A	G	18: 25,473,170 (GRCm39)	N325D	probably benign	Het
Brinp2	A	T	1: 158,082,579 (GRCm39)	L247Q	probably damaging	Het
Casz1	A	G	4: 149,036,850 (GRCm39)	D1704G	unknown	Het
Cdk5rap1	G	A	2: 154,202,595 (GRCm39)	R212W	probably damaging	Het
Cdkl2	T	A	5: 92,167,318 (GRCm39)	T444S	probably benign	Het
Cfap276	T	C	3: 108,450,815 (GRCm39)	F86L	possibly damaging	Het
Cga	T	A	4: 34,907,076 (GRCm39)	M99K	probably benign	Het
Cspp1	C	T	1: 10,135,572 (GRCm39)	R138*	probably null	Het
Dao	T	G	5: 114,153,273 (GRCm39)	*133E	probably null	Het
Ddx1	A	T	12: 13,275,456 (GRCm39)	C544S	probably null	Het
Dgkq	A	T	5: 108,806,112 (GRCm39)	V98E	probably damaging	Het
Dnah6	T	A	6: 73,169,300 (GRCm39)	T434S	possibly damaging	Het
Dntt	A	G	19: 41,027,418 (GRCm39)	N162D	probably benign	Het
Dpysl5	T	C	5: 30,902,805 (GRCm39)	V79A	probably benign	Het
Efcab3	T	C	11: 104,611,871 (GRCm39)	L571P	probably damaging	Het
Ep300	T	C	15: 81,532,567 (GRCm39)	C1602R	unknown	Het
Flrt3	C	T	2: 140,503,672 (GRCm39)		probably null	Het
Gk2	A	G	5: 97,604,757 (GRCm39)	V27A	probably damaging	Het
Gnpat	T	G	8: 125,614,553 (GRCm39)	M663R	probably benign	Het
Hc	A	T	2: 34,874,859 (GRCm39)		probably null	Het
Il12rb1	A	G	8: 71,263,271 (GRCm39)	Y67C	probably damaging	Het
Ints15	G	A	5: 143,297,600 (GRCm39)	A149V	probably benign	Het
Kmt2b	C	T	7: 30,281,385 (GRCm39)	D1229N	probably damaging	Het
Lamc1	T	C	1: 153,124,822 (GRCm39)	T650A	probably damaging	Het
Lrp1	G	A	10: 127,419,766 (GRCm39)	R948*	probably null	Het
Map3k21	T	C	8: 126,654,336 (GRCm39)	I385T	probably damaging	Het
Mmrn1	T	A	6: 60,953,236 (GRCm39)	S506T	probably benign	Het
Nlrp1a	A	G	11: 71,014,023 (GRCm39)	F409S	probably damaging	Het
Nlrp3	T	A	11: 59,455,892 (GRCm39)	I896N	probably benign	Het
Noxred1	C	A	12: 87,273,799 (GRCm39)	V81L	probably damaging	Het
Nrcam	A	T	12: 44,645,272 (GRCm39)	I1225F	probably damaging	Het
Or2z2	C	T	11: 58,346,481 (GRCm39)	C98Y	probably damaging	Het
Otos	T	A	1: 92,572,241 (GRCm39)		probably null	Het
Pcdh20	A	G	14: 88,706,103 (GRCm39)	I399T	probably benign	Het
Pkhd1	C	T	1: 20,309,528 (GRCm39)	V2807I	not run	Het
Prrx2	A	G	2: 30,770,902 (GRCm39)	E235G	probably damaging	Het
Rab13	T	C	3: 90,128,327 (GRCm39)	I41T	probably damaging	Het
Rai1	A	C	11: 60,080,201 (GRCm39)	T1422P	possibly damaging	Het
Rcn1	C	T	2: 105,222,336 (GRCm39)	V217M	probably damaging	Het
Scn2a	T	A	2: 65,518,998 (GRCm39)	V408E	probably damaging	Het
Sec16a	C	T	2: 26,318,376 (GRCm39)	A121T		Het
Slc35d1	A	G	4: 103,046,982 (GRCm39)		probably null	Het
Slc39a6	A	T	18: 24,717,106 (GRCm39)	V642E	probably damaging	Het
Slc6a19	G	A	13: 73,841,203 (GRCm39)	A69V	probably benign	Het
Spink6	A	T	18: 44,215,386 (GRCm39)	T79S	probably damaging	Het
Spire1	T	C	18: 67,652,950 (GRCm39)	D170G	probably damaging	Het
Sugp1	T	C	8: 70,505,269 (GRCm39)	S79P	probably damaging	Het
Syne3	A	G	12: 104,934,167 (GRCm39)	Y201H	probably damaging	Het
Tbc1d10a	T	C	11: 4,155,858 (GRCm39)		probably null	Het
Tmem14a	C	T	1: 21,299,735 (GRCm39)	Q122*	probably null	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Trmt61a	A	G	12: 111,645,321 (GRCm39)	I86V	possibly damaging	Het
Tubgcp4	G	A	2: 121,020,447 (GRCm39)		probably null	Het
Vmn1r79	T	A	7: 11,910,668 (GRCm39)	Y183*	probably null	Het
Vmn2r11	A	T	5: 109,202,742 (GRCm39)	W112R	probably benign	Het
Vpreb1a	T	C	16: 16,686,516 (GRCm39)	K125E	probably benign	Het
Wdr6	A	T	9: 108,451,971 (GRCm39)	F637L	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
R7117:Cers2	UTSW	3	95,228,072 (GRCm39)	critical splice donor site	probably null
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'- GAAACTGTTGATCCTCCCACC -3'
(R):5'- AATTAGGGGTGAGGGATCCC -3'

Sequencing Primer
(F):5'- CTGGTTTCCTCTTGCAGCTGG -3'
(R):5'- TGAGGGATCCCAGGACACTCAG -3'

Posted On

2019-09-13