Mutagenetix > Incidental Mutation

Incidental Mutation 'R8757:Cers3'

671687

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

068621-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.272) question?

Stock #

R8757 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66393252-66473439 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 66435850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 270 (V270M)

Ref Sequence

ENSEMBL: ENSMUSP00000069238 (fasta)

Gene Model

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

AlphaFold

Q1A3B0

Predicted Effect

probably damaging
Transcript: ENSMUST00000066475
AA Change: V270M

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

SMART Domains

Protein: ENSMUSP00000069238
Gene: ENSMUSG00000030510
AA Change: V270M

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 damaging
Transcript: ENSMUST00000208521
AA Change: V234M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (59/59)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030468B19Rik	T	C	11: 117,697,112 (GRCm39)	V237A	probably benign	Het
Abca15	G	A	7: 120,006,631 (GRCm39)	V1632M	probably damaging	Het
Adam20	A	T	8: 41,248,943 (GRCm39)	H351L	probably benign	Het
Ak9	T	C	10: 41,299,036 (GRCm39)	V1579A	unknown	Het
Apol7e	T	C	15: 77,602,065 (GRCm39)	V221A	probably benign	Het
Arid5b	T	C	10: 67,933,640 (GRCm39)	H754R	probably damaging	Het
Atp6v0d2	T	A	4: 19,910,649 (GRCm39)	R80S	probably benign	Het
Ces3a	A	G	8: 105,784,129 (GRCm39)	H443R	probably damaging	Het
Cnot7	A	G	8: 40,947,080 (GRCm39)	V269A	probably benign	Het
Cntn1	T	G	15: 92,153,801 (GRCm39)	F485V	possibly damaging	Het
Copa	A	G	1: 171,947,081 (GRCm39)	I1068M	probably benign	Het
Dchs2	G	A	3: 83,261,567 (GRCm39)	V2612M	possibly damaging	Het
Dgkz	T	C	2: 91,775,922 (GRCm39)	T114A	probably benign	Het
Dock2	A	T	11: 34,586,067 (GRCm39)	D538E	probably benign	Het
Epn3	C	A	11: 94,386,848 (GRCm39)	G174V	possibly damaging	Het
Evx2	C	T	2: 74,486,226 (GRCm39)	A388T	probably benign	Het
Fancd2	T	C	6: 113,537,054 (GRCm39)	M553T	possibly damaging	Het
Ficd	G	T	5: 113,876,575 (GRCm39)	R250L	probably damaging	Het
Fmo2	A	G	1: 162,708,005 (GRCm39)	S377P	probably benign	Het
Gm19410	A	T	8: 36,276,119 (GRCm39)	Q1592L	possibly damaging	Het
Gm4792	T	A	10: 94,131,049 (GRCm39)	T87S	unknown	Het
Gm8947	C	A	1: 151,068,809 (GRCm39)	T214K	probably benign	Het
H6pd	C	T	4: 150,066,758 (GRCm39)	V551I	probably benign	Het
Hace1	T	A	10: 45,546,539 (GRCm39)	I391N	possibly damaging	Het
Heyl	C	T	4: 123,127,666 (GRCm39)	R3W	probably damaging	Het
Htr4	T	A	18: 62,545,335 (GRCm39)	V40E	probably damaging	Het
Ighg1	A	T	12: 113,292,657 (GRCm39)	L304*	probably null	Het
Igkv1-135	T	A	6: 67,587,470 (GRCm39)	W114R	possibly damaging	Het
Itga8	T	C	2: 12,266,940 (GRCm39)	D165G	probably damaging	Het
Kmt2a	A	T	9: 44,754,210 (GRCm39)	V1210E	unknown	Het
Lipt2	GGCGCCCGCGCGCG	GGCG	7: 99,808,888 (GRCm39)		probably null	Het
Lrrc37a	A	G	11: 103,348,766 (GRCm39)	V2643A	unknown	Het
Map4k5	A	G	12: 69,897,598 (GRCm39)		probably benign	Het
Mecom	A	T	3: 30,292,268 (GRCm39)	D14E		Het
Myo3a	G	T	2: 22,448,319 (GRCm39)	K969N	possibly damaging	Het
Nat3	T	C	8: 68,000,202 (GRCm39)	I27T	probably damaging	Het
Nr1d1	G	C	11: 98,660,073 (GRCm39)	R484G	probably damaging	Het
Nr2c1	T	C	10: 94,031,119 (GRCm39)	L560P	probably damaging	Het
Or52e8	T	C	7: 104,624,325 (GRCm39)	N293S	probably damaging	Het
Pik3cg	T	C	12: 32,255,006 (GRCm39)	D327G	probably damaging	Het
Ppihl	A	T	5: 44,070,999 (GRCm39)	N119I	probably benign	Het
Ppp1r13l	G	T	7: 19,103,981 (GRCm39)	G154V	probably damaging	Het
Psmc5	A	G	11: 106,153,687 (GRCm39)	D382G	probably benign	Het
Ptprz1	C	A	6: 22,972,716 (GRCm39)	Q209K	possibly damaging	Het
Rev1	A	C	1: 38,098,353 (GRCm39)	L730R	probably damaging	Het
Rin3	G	A	12: 102,339,861 (GRCm39)	V684I	probably damaging	Het
Ror1	T	A	4: 100,298,080 (GRCm39)	F484L	probably benign	Het
Secisbp2	G	A	13: 51,833,869 (GRCm39)	V670I	possibly damaging	Het
Sema6d	G	A	2: 124,497,134 (GRCm39)	C136Y	probably damaging	Het
Sf3a2	T	A	10: 80,640,138 (GRCm39)	H316Q	unknown	Het
Slc18b1	T	C	10: 23,692,198 (GRCm39)		silent	Het
Sp100	T	C	1: 85,590,285 (GRCm39)	V93A	possibly damaging	Het
Spta1	C	T	1: 174,040,940 (GRCm39)	L1247F	probably damaging	Het
Syne1	T	A	10: 5,144,618 (GRCm39)	N21I	probably damaging	Het
Tbck	G	T	3: 132,392,587 (GRCm39)	M9I	probably benign	Het
Tln2	T	C	9: 67,274,500 (GRCm39)	Y376C	probably damaging	Het
Tmem199	T	A	11: 78,398,633 (GRCm39)		probably benign	Het
Ttf2	A	G	3: 100,857,648 (GRCm39)	L759P	probably damaging	Het
Ubqlnl	T	A	7: 103,799,206 (GRCm39)	H97L	probably damaging	Het
Zfp800	T	C	6: 28,244,270 (GRCm39)	I232V	probably benign	Het
Zfp831	A	G	2: 174,487,874 (GRCm39)	T850A	probably benign	Het
Zpld2	T	C	4: 133,930,282 (GRCm39)	T8A	unknown	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
R3963: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
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'- AACATGCAGCTGTAAGTTACTGG -3'
(R):5'- CACTTGCAGTGTAGAGACTGG -3'

Sequencing Primer
(F):5'- GCTTTTGCCTAATGGCTTC -3'
(R):5'- CATCTTGAAGGGTCTGGGAGAC -3'

Posted On

2021-04-30