Mutagenetix > Incidental Mutation

Incidental Mutation 'R3963:Cers3'

312184

Institutional Source

Beutler Lab

Gene Symbol

Cers3

Ensembl Gene

ENSMUSG00000030510

Gene Name

ceramide synthase 3

Synonyms

T3L, related to TRH3, Lass3, CerS3, 4930550L11Rik, LOC233330

MMRRC Submission

040932-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.264) question?

Stock #

R3963 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66393252-66473439 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 66435823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 261 (A261S)

Ref Sequence

ENSEMBL: ENSMUSP00000069238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066475] [ENSMUST00000208521]

AlphaFold

Q1A3B0

Predicted Effect

probably benign
Transcript: ENSMUST00000066475
AA Change: A261S

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000069238
Gene: ENSMUSG00000030510
AA Change: A261S

Domain	Start	End	E-Value	Type
transmembrane domain	66	88	N/A	INTRINSIC
HOX	110	167	2.48e-2	SMART
TLC	166	367	6.52e-57	SMART
low complexity region	379	391	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000208521
AA Change: A225S

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.1052

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the ceramide synthase family of genes. The ceramide synthase enzymes regulate sphingolipid synthesis by catalyzing the formation of ceramides from sphingoid base and acyl-coA substrates. This family member is involved in the synthesis of ceramides with ultra-long-chain acyl moieties (ULC-Cers), important to the epidermis in its role in creating a protective barrier from the environment. The protein encoded by this gene has also been implicated in modification of the lipid structures required for spermatogenesis. Mutations in this gene have been associated with male fertility defects, and epidermal defects, including ichthyosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a lethal skin barrier disruption defect due to a lack of ultra-long-chain acyl ceramides, impaired stratum corneum desquamation, accelerated lamellar body biogenesis and extrusion, and delayed keratinocyte cornification. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	T	C	8: 114,504,443 (GRCm39)	D59G	probably benign	Het
Ank2	A	T	3: 126,728,245 (GRCm39)	S783T	probably benign	Het
Arfgef3	T	C	10: 18,468,025 (GRCm39)	D1725G	probably damaging	Het
B3gnt5	A	G	16: 19,587,798 (GRCm39)	S6G	probably benign	Het
Btbd8	G	A	5: 107,655,222 (GRCm39)	C1007Y	probably damaging	Het
Ccdc82	C	A	9: 13,252,011 (GRCm39)	T101K	possibly damaging	Het
Ccdc85a	A	C	11: 28,526,396 (GRCm39)	M376R	probably benign	Het
Cd200r1	T	A	16: 44,613,158 (GRCm39)	C255S	probably benign	Het
Cdc23	T	C	18: 34,779,972 (GRCm39)	M119V	probably benign	Het
Clptm1	C	T	7: 19,372,121 (GRCm39)	W238*	probably null	Het
Cr2	A	G	1: 194,842,047 (GRCm39)	V302A	probably damaging	Het
Cyp4a31	A	G	4: 115,431,969 (GRCm39)		probably benign	Het
Dennd4a	T	A	9: 64,769,613 (GRCm39)	I440N	probably damaging	Het
Dsc2	C	T	18: 20,184,284 (GRCm39)	V35I	probably damaging	Het
Dyrk1a	T	A	16: 94,464,605 (GRCm39)	M71K	probably benign	Het
Exoc3l2	G	A	7: 19,229,181 (GRCm39)	G200S	probably benign	Het
Fhip2a	T	C	19: 57,361,442 (GRCm39)	L122P	possibly damaging	Het
Fkbp15	A	T	4: 62,258,914 (GRCm39)	I114N	probably damaging	Het
Fpr-rs6	G	A	17: 20,402,479 (GRCm39)	P294L	probably damaging	Het
Frmd6	A	G	12: 70,940,638 (GRCm39)	T428A	probably benign	Het
G6pd2	T	A	5: 61,966,228 (GRCm39)	M1K	probably null	Het
Gdf3	C	T	6: 122,583,717 (GRCm39)	V217I	probably benign	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Gtf3c1	T	C	7: 125,292,397 (GRCm39)		probably null	Het
Hrg	G	A	16: 22,774,825 (GRCm39)	V152I	possibly damaging	Het
Itpkc	T	C	7: 26,926,934 (GRCm39)	T327A	probably damaging	Het
Jade1	T	C	3: 41,555,845 (GRCm39)	V304A	probably damaging	Het
Leo1	C	A	9: 75,357,762 (GRCm39)		probably benign	Het
Lrrc7	A	T	3: 157,866,042 (GRCm39)	L1233Q	probably damaging	Het
Ltbp3	G	A	19: 5,804,050 (GRCm39)	R854Q	probably benign	Het
Matn2	C	A	15: 34,388,937 (GRCm39)	Y342*	probably null	Het
Minar1	G	A	9: 89,483,963 (GRCm39)	T478I	probably damaging	Het
Mlh3	T	C	12: 85,315,454 (GRCm39)	H244R	possibly damaging	Het
Mmaa	A	T	8: 79,994,843 (GRCm39)	V321E	probably damaging	Het
Ntng1	T	A	3: 109,842,184 (GRCm39)	L196F	probably damaging	Het
Oas1e	A	G	5: 120,932,205 (GRCm39)	V146A	probably damaging	Het
Or52z1	G	T	7: 103,437,241 (GRCm39)	T81K	probably benign	Het
Plcxd2	T	C	16: 45,800,864 (GRCm39)	K120R	probably damaging	Het
Prex2	G	T	1: 11,180,581 (GRCm39)	C382F	possibly damaging	Het
Psg29	T	A	7: 16,942,510 (GRCm39)	H170Q	probably benign	Het
Ptprk	A	G	10: 28,427,661 (GRCm39)	T747A	probably damaging	Het
Qki	G	A	17: 10,435,394 (GRCm39)		probably benign	Het
Rpusd2	A	G	2: 118,869,085 (GRCm39)	T503A	probably benign	Het
Rtn3	T	C	19: 7,435,510 (GRCm39)	S142G	probably damaging	Het
Slco1a5	C	T	6: 142,194,370 (GRCm39)		probably null	Het
Snap91	A	T	9: 86,657,665 (GRCm39)	W509R	probably damaging	Het
Srsf3	C	T	17: 29,255,430 (GRCm39)		probably benign	Het
Tmem267	A	T	13: 119,629,175 (GRCm39)		probably null	Het
Tmem63a	G	A	1: 180,790,679 (GRCm39)	D446N	possibly damaging	Het
Tnfaip8	C	A	18: 50,223,653 (GRCm39)	H154N	possibly damaging	Het
Trim35	T	C	14: 66,541,503 (GRCm39)	L209P	probably damaging	Het
Ttf1	A	G	2: 28,954,816 (GRCm39)	E60G	possibly damaging	Het
Ttf2	T	C	3: 100,849,136 (GRCm39)		probably benign	Het
Tubg2	T	C	11: 101,051,224 (GRCm39)		probably null	Het
Ubap1l	C	T	9: 65,276,477 (GRCm39)		probably benign	Het
Usp48	A	T	4: 137,360,750 (GRCm39)	R26*	probably null	Het
Vmn1r222	A	G	13: 23,417,102 (GRCm39)	V37A	probably benign	Het
Vmn2r4	T	A	3: 64,322,572 (GRCm39)	N49I	probably damaging	Het
Zfp979	A	T	4: 147,697,588 (GRCm39)	C374S	probably benign	Het

Other mutations in Cers3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01321:Cers3	APN	7	66,435,751 (GRCm39)	splice site	probably benign
IGL02832:Cers3	APN	7	66,431,573 (GRCm39)	missense	probably benign	0.00
R0400:Cers3	UTSW	7	66,414,078 (GRCm39)	missense	probably benign	0.03
R0490:Cers3	UTSW	7	66,423,438 (GRCm39)	missense	possibly damaging	0.69
R0558:Cers3	UTSW	7	66,433,166 (GRCm39)	missense	probably damaging	1.00
R0571:Cers3	UTSW	7	66,435,805 (GRCm39)	missense	possibly damaging	0.93
R1452:Cers3	UTSW	7	66,433,152 (GRCm39)	missense	probably damaging	1.00
R1538:Cers3	UTSW	7	66,431,571 (GRCm39)	missense	probably damaging	0.98
R1767:Cers3	UTSW	7	66,433,151 (GRCm39)	missense	probably damaging	1.00
R2155:Cers3	UTSW	7	66,433,162 (GRCm39)	missense	probably damaging	0.99
R2427:Cers3	UTSW	7	66,445,541 (GRCm39)	missense	probably benign	0.04
R3705:Cers3	UTSW	7	66,435,823 (GRCm39)	missense	probably benign	0.25
R3713:Cers3	UTSW	7	66,435,823 (GRCm39)	missense	probably benign	0.25
R3714:Cers3	UTSW	7	66,435,823 (GRCm39)	missense	probably benign	0.25
R3715:Cers3	UTSW	7	66,435,823 (GRCm39)	missense	probably benign	0.25
R3961:Cers3	UTSW	7	66,435,823 (GRCm39)	missense	probably benign	0.25
R4238:Cers3	UTSW	7	66,423,424 (GRCm39)	missense	probably damaging	1.00
R4652:Cers3	UTSW	7	66,431,604 (GRCm39)	splice site	probably null
R5174:Cers3	UTSW	7	66,434,616 (GRCm39)	missense	probably damaging	1.00
R6493:Cers3	UTSW	7	66,393,468 (GRCm39)	missense	probably benign	0.07
R6675:Cers3	UTSW	7	66,435,844 (GRCm39)	missense	possibly damaging	0.50
R6807:Cers3	UTSW	7	66,413,968 (GRCm39)	missense	probably damaging	1.00
R6833:Cers3	UTSW	7	66,429,419 (GRCm39)	critical splice donor site	probably null
R7223:Cers3	UTSW	7	66,433,163 (GRCm39)	missense	probably damaging	0.99
R7592:Cers3	UTSW	7	66,439,377 (GRCm39)	missense	probably damaging	1.00
R7835:Cers3	UTSW	7	66,423,387 (GRCm39)	missense	possibly damaging	0.79
R8202:Cers3	UTSW	7	66,435,761 (GRCm39)	missense	probably damaging	0.99
R8322:Cers3	UTSW	7	66,439,386 (GRCm39)	missense	probably damaging	1.00
R8350:Cers3	UTSW	7	66,414,090 (GRCm39)	missense	possibly damaging	0.54
R8450:Cers3	UTSW	7	66,414,090 (GRCm39)	missense	possibly damaging	0.54
R8757:Cers3	UTSW	7	66,435,850 (GRCm39)	missense	probably damaging	1.00
R8759:Cers3	UTSW	7	66,435,850 (GRCm39)	missense	probably damaging	1.00
R9149:Cers3	UTSW	7	66,393,442 (GRCm39)	missense	probably benign	0.07
R9712:Cers3	UTSW	7	66,423,378 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCTCACAAGGACCCTGTTAAG -3'
(R):5'- GGACAGAGTGCCCTTCCAAATC -3'

Sequencing Primer
(F):5'- TCACAAGGACCCTGTTAAGAAAAAC -3'
(R):5'- GAGTGCCCTTCCAAATCACTCAC -3'

Posted On

2015-04-29