Mutagenetix > Incidental Mutation

Incidental Mutation 'R1767:Cers3'

194471

Institutional Source

Beutler Lab

Gene Symbol

Cers3

Ensembl Gene

ENSMUSG00000030510

Gene Name

ceramide synthase 3

Synonyms

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

Accession Numbers

Essential gene?

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

Stock #

R1767 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66393252-66473439 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66433151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 156 (K156R)

Ref Sequence

ENSEMBL: ENSMUSP00000146745 (fasta)

Gene Model

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

AlphaFold

Q1A3B0

Predicted Effect

probably damaging
Transcript: ENSMUST00000066475
AA Change: K192R

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

SMART Domains

Protein: ENSMUSP00000069238
Gene: ENSMUSG00000030510
AA Change: K192R

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: K156R

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.8%

Validation Efficiency

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110065P20Rik	T	C	4: 124,743,754 (GRCm39)	N128S	possibly damaging	Het
Adam26b	T	A	8: 43,972,948 (GRCm39)	I685F	probably benign	Het
Adgrf5	A	T	17: 43,761,455 (GRCm39)	Y1050F	possibly damaging	Het
Alcam	A	T	16: 52,091,077 (GRCm39)	N480K	probably damaging	Het
Alk	T	A	17: 72,207,693 (GRCm39)	H1014L	possibly damaging	Het
Arhgef2	A	G	3: 88,551,260 (GRCm39)	Q778R	probably damaging	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Ascc3	T	A	10: 50,594,472 (GRCm39)	I1189N	probably damaging	Het
AU040320	G	A	4: 126,734,517 (GRCm39)	G713D	probably damaging	Het
Bmpr1a	A	G	14: 34,169,727 (GRCm39)		probably null	Het
Bpifa6	A	G	2: 153,829,147 (GRCm39)	T225A	possibly damaging	Het
Cacna1g	T	C	11: 94,350,628 (GRCm39)	S406G	probably benign	Het
Ccdc198	G	A	14: 49,473,341 (GRCm39)	T128I	probably benign	Het
Ccdc40	T	A	11: 119,121,522 (GRCm39)		probably null	Het
Cckbr	A	T	7: 105,083,758 (GRCm39)	I229F	possibly damaging	Het
Chd1	T	A	17: 15,990,565 (GRCm39)	W1706R	probably damaging	Het
Col11a2	T	A	17: 34,282,869 (GRCm39)		probably benign	Het
Coq10b	A	G	1: 55,100,513 (GRCm39)	R66G	probably damaging	Het
Cpn2	A	T	16: 30,078,485 (GRCm39)	Y405*	probably null	Het
Dis3	A	T	14: 99,321,578 (GRCm39)	Y590N	probably damaging	Het
Dpy19l1	T	C	9: 24,373,880 (GRCm39)	H270R	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Ephx1	C	T	1: 180,822,242 (GRCm39)	G101S	probably damaging	Het
Flg	A	T	3: 93,187,220 (GRCm39)	Y224F	possibly damaging	Het
Focad	G	T	4: 88,275,705 (GRCm39)	V1105L	unknown	Het
Fzd1	A	G	5: 4,806,812 (GRCm39)	Y257H	probably benign	Het
Gm11116	T	C	5: 88,259,311 (GRCm39)		probably benign	Het
Gm11938	G	A	11: 99,494,071 (GRCm39)	S8F	unknown	Het
Grin3a	A	T	4: 49,844,423 (GRCm39)	V220E	probably damaging	Het
Gstt2	T	C	10: 75,670,098 (GRCm39)	D8G	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hook3	A	G	8: 26,561,084 (GRCm39)		probably null	Het
Itpr2	T	C	6: 146,251,566 (GRCm39)	D993G	possibly damaging	Het
Jhy	T	C	9: 40,872,444 (GRCm39)	R22G	probably benign	Het
Krt13	A	C	11: 100,011,926 (GRCm39)	H132Q	possibly damaging	Het
Krtap27-1	G	A	16: 88,468,199 (GRCm39)	S115L	probably damaging	Het
L1td1	T	C	4: 98,625,686 (GRCm39)	V627A	probably benign	Het
Lrrn4cl	A	G	19: 8,829,135 (GRCm39)	T38A	probably benign	Het
Ly96	A	G	1: 16,776,399 (GRCm39)	T112A	probably benign	Het
Meltf	G	T	16: 31,702,747 (GRCm39)	C158F	probably damaging	Het
Mycbp2	A	T	14: 103,485,841 (GRCm39)	H1040Q	probably damaging	Het
Npas4	G	A	19: 5,038,211 (GRCm39)	P199L	probably benign	Het
Or12j3	T	C	7: 139,953,389 (GRCm39)	I45V	possibly damaging	Het
Or52r1	T	A	7: 102,536,833 (GRCm39)	I176F	probably damaging	Het
Or8k3b	A	G	2: 86,520,728 (GRCm39)	M197T	probably benign	Het
Pcdh10	A	T	3: 45,338,612 (GRCm39)	H923L	probably damaging	Het
Pias3	T	C	3: 96,608,719 (GRCm39)	S228P	probably damaging	Het
Pign	A	G	1: 105,580,917 (GRCm39)	V154A	probably benign	Het
Plod3	T	A	5: 137,019,030 (GRCm39)	V305E	possibly damaging	Het
Prkra	G	T	2: 76,477,584 (GRCm39)	H40Q	possibly damaging	Het
Prss22	T	A	17: 24,215,331 (GRCm39)	E148D	probably benign	Het
Psg17	A	G	7: 18,550,727 (GRCm39)	V376A	possibly damaging	Het
Retnlg	A	T	16: 48,693,991 (GRCm39)	D49V	possibly damaging	Het
Rnf26rt	A	T	6: 76,474,588 (GRCm39)	N9K	unknown	Het
Rtp1	A	G	16: 23,250,124 (GRCm39)	E163G	probably damaging	Het
Slc6a20a	T	A	9: 123,466,165 (GRCm39)	I522F	probably damaging	Het
Slco5a1	T	C	1: 13,059,839 (GRCm39)	D294G	probably damaging	Het
Slco6d1	A	G	1: 98,418,274 (GRCm39)	T487A	possibly damaging	Het
Smarcc2	A	T	10: 128,304,951 (GRCm39)	D262V	possibly damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Ssbp3	G	T	4: 106,904,612 (GRCm39)	D336Y	probably damaging	Het
Sun2	A	G	15: 79,609,758 (GRCm39)	S694P	probably benign	Het
Tdp1	G	A	12: 99,857,602 (GRCm39)		probably null	Het
Tfap2a	A	T	13: 40,878,613 (GRCm39)	I204N	probably damaging	Het
Tfip11	T	A	5: 112,482,298 (GRCm39)	W519R	probably damaging	Het
Tie1	T	C	4: 118,333,373 (GRCm39)	E831G	possibly damaging	Het
Tjp1	A	G	7: 64,962,301 (GRCm39)		probably null	Het
Tln2	C	T	9: 67,193,796 (GRCm39)	A1773T	probably benign	Het
Tmem39b	A	C	4: 129,586,976 (GRCm39)	I78M	possibly damaging	Het
Trank1	T	C	9: 111,220,547 (GRCm39)	V2428A	probably benign	Het
Trim35	A	G	14: 66,541,617 (GRCm39)	E247G	probably damaging	Het
Tsc22d1	T	C	14: 76,655,542 (GRCm39)	S674P	probably damaging	Het
Tsn	A	T	1: 118,228,618 (GRCm39)	D201E	probably damaging	Het
Usp42	A	T	5: 143,700,621 (GRCm39)	V1134E	possibly damaging	Het
Uvrag	A	G	7: 98,748,601 (GRCm39)	I117T	probably damaging	Het
Vmn1r192	A	G	13: 22,371,441 (GRCm39)	S260P	probably benign	Het
Vmn2r110	C	T	17: 20,800,840 (GRCm39)	A531T	possibly damaging	Het
Wdsub1	A	T	2: 59,689,058 (GRCm39)	I388N	probably damaging	Het
Wnt10b	A	T	15: 98,670,556 (GRCm39)	L228Q	probably damaging	Het
Zbtb34	A	C	2: 33,301,348 (GRCm39)	S398A	possibly damaging	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
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
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'- ACTCTAGGCCAGTGTGACAGTGAAC -3'
(R):5'- CCACTTTGGTTGGAAATGAGGGCAG -3'

Sequencing Primer
(F):5'- ACATGTGGGTCAGTGTCACAG -3'
(R):5'- CTAAGCTACCCTATTAAGAGTGGGC -3'

Posted On

2014-05-23