Mutagenetix > Incidental Mutation

Incidental Mutation 'R8322:Cers3'

642012

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

067798-MU

Accession Numbers

Essential gene?

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

Stock #

R8322 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66393252-66473439 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 66439386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 299 (L299R)

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: L299R

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

SMART Domains

Protein: ENSMUSP00000069238
Gene: ENSMUSG00000030510
AA Change: L299R

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

possibly damaging
Transcript: ENSMUST00000208521
AA Change: L263R

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (64/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 73,199,219 (GRCm39)	S209G	probably benign	Het
Aars1	T	C	8: 111,772,160 (GRCm39)	L450P	possibly damaging	Het
Acsbg1	G	A	9: 54,523,268 (GRCm39)	T453M	probably benign	Het
Aff3	A	G	1: 38,220,742 (GRCm39)	S1100P	possibly damaging	Het
B4galt5	G	A	2: 167,190,849 (GRCm39)	A35V	probably benign	Het
C1qtnf1	T	C	11: 118,338,683 (GRCm39)	S118P	probably benign	Het
Ceacam20	A	T	7: 19,705,628 (GRCm39)	E206D	probably damaging	Het
Celsr3	T	C	9: 108,725,993 (GRCm39)	L3066P	probably damaging	Het
Cfhr2	G	T	1: 139,738,696 (GRCm39)	H288Q	probably benign	Het
Cnot1	A	T	8: 96,496,472 (GRCm39)	M278K	probably benign	Het
Cnot10	T	C	9: 114,456,537 (GRCm39)	E166G	probably damaging	Het
Ctsd	T	A	7: 141,939,197 (GRCm39)	D76V	probably damaging	Het
Cyp1a1	T	A	9: 57,610,003 (GRCm39)	F472L	probably damaging	Het
Dusp19	T	A	2: 80,454,635 (GRCm39)	D118E	probably damaging	Het
Dusp29	A	T	14: 21,752,950 (GRCm39)	D65E	probably damaging	Het
Eif2ak3	C	A	6: 70,855,903 (GRCm39)	R236S	probably damaging	Het
Fam169a	A	G	13: 97,259,260 (GRCm39)	T439A	probably benign	Het
Flg	T	C	3: 93,191,639 (GRCm39)	Y11H	unknown	Het
Fn1	T	A	1: 71,667,618 (GRCm39)	I792L	probably benign	Het
Fzd7	T	C	1: 59,522,242 (GRCm39)	S42P	probably benign	Het
Gimap3	A	G	6: 48,742,370 (GRCm39)	S187P	possibly damaging	Het
Gli1	C	A	10: 127,167,477 (GRCm39)	R592L	probably damaging	Het
Glt8d2	A	T	10: 82,498,037 (GRCm39)	I124N	probably damaging	Het
Hbp1	C	T	12: 31,983,387 (GRCm39)	D356N	probably damaging	Het
Hif1a	T	C	12: 73,986,373 (GRCm39)	S367P	probably benign	Het
Hspg2	C	G	4: 137,246,290 (GRCm39)	P1023A	possibly damaging	Het
Itpr1	C	A	6: 108,365,190 (GRCm39)	N880K	probably benign	Het
Kank1	T	C	19: 25,355,842 (GRCm39)		probably benign	Het
Kat2a	T	C	11: 100,603,116 (GRCm39)	T39A	unknown	Het
Kcnk2	T	A	1: 189,072,046 (GRCm39)	Q98L	probably benign	Het
Kcnn4	G	A	7: 24,083,545 (GRCm39)	G409S	probably benign	Het
Klrb1	T	A	6: 128,690,576 (GRCm39)	I49F	probably damaging	Het
Larp4	G	A	15: 99,908,237 (GRCm39)	V573I	probably benign	Het
Lrpprc	A	G	17: 85,047,496 (GRCm39)		probably null	Het
Mybl1	A	G	1: 9,746,506 (GRCm39)	S385P	probably damaging	Het
Nup62	T	C	7: 44,478,440 (GRCm39)	S152P	possibly damaging	Het
Obi1	A	T	14: 104,717,091 (GRCm39)	D427E	probably damaging	Het
Or11a4	A	G	17: 37,536,241 (GRCm39)	Y75C	probably damaging	Het
Pcdh12	G	A	18: 38,414,630 (GRCm39)	Q832*	probably null	Het
Pcid2	A	G	8: 13,128,555 (GRCm39)	I368T	probably damaging	Het
Pcnx4	T	A	12: 72,603,437 (GRCm39)	F492I	probably damaging	Het
Pi4ka	A	G	16: 17,175,437 (GRCm39)	Y464H		Het
Plekhg5	T	G	4: 152,189,201 (GRCm39)	S260R	possibly damaging	Het
Prkdc	T	A	16: 15,532,005 (GRCm39)		probably benign	Het
Prr14	A	T	7: 127,072,999 (GRCm39)	E115D	probably benign	Het
Rab3gap2	A	T	1: 184,978,877 (GRCm39)	N285Y	probably benign	Het
Rhot1	T	A	11: 80,148,386 (GRCm39)	C609S	possibly damaging	Het
Rnf123	T	C	9: 107,945,706 (GRCm39)	Q360R	probably benign	Het
Rrp12	T	C	19: 41,868,658 (GRCm39)	T562A	probably benign	Het
Rundc1	G	A	11: 101,322,992 (GRCm39)	G317D	probably benign	Het
Rusf1	C	T	7: 127,889,786 (GRCm39)	R1H	probably damaging	Het
Slc14a1	A	T	18: 78,145,656 (GRCm39)	I426N	possibly damaging	Het
Slc23a1	C	T	18: 35,755,588 (GRCm39)	G436E	probably damaging	Het
Slc45a3	A	G	1: 131,905,523 (GRCm39)	D182G	probably damaging	Het
Sos1	A	T	17: 80,715,728 (GRCm39)	F1010I	probably damaging	Het
Tap1	A	G	17: 34,412,163 (GRCm39)	E456G	probably damaging	Het
Tha1	A	T	11: 117,759,493 (GRCm39)	V332E	probably damaging	Het
Tmem18	T	A	12: 30,638,517 (GRCm39)	I93N	probably damaging	Het
Tnrc18	A	G	5: 142,711,767 (GRCm39)	F2664S	probably damaging	Het
Tpm3	T	A	3: 89,981,011 (GRCm39)		probably benign	Het
Ttc3	A	G	16: 94,255,351 (GRCm39)	E1615G	probably damaging	Het
Ube3b	A	G	5: 114,540,747 (GRCm39)	T485A	probably benign	Het
Vmn2r92	A	G	17: 18,386,886 (GRCm39)	Y75C	probably damaging	Het
Zfp169	T	C	13: 48,644,575 (GRCm39)	D184G	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
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'- ACATGGCCAATCTCATCTTGC -3'
(R):5'- GTGTGTGATTATCCACTCCCGG -3'

Sequencing Primer
(F):5'- ACATGGCCAATCTCATCTTGCTTATG -3'
(R):5'- TCCCATGTCACCACCTTATACAG -3'

Posted On

2020-07-28