Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4280001:Acer2'

554401

Institutional Source

Beutler Lab

Gene Symbol

Acer2

Ensembl Gene

ENSMUSG00000038007

Gene Name

alkaline ceramidase 2

Synonyms

2410116I05Rik, Asah3l

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.246) question?

Stock #

PIT4280001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86792633-86853059 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86805320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 95 (L95F)

Ref Sequence

ENSEMBL: ENSMUSP00000040048 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045224] [ENSMUST00000084433]

AlphaFold

Q8VD53

Predicted Effect

probably damaging
Transcript: ENSMUST00000045224
AA Change: L95F

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

SMART Domains

Protein: ENSMUSP00000040048
Gene: ENSMUSG00000038007
AA Change: L95F

Domain	Start	End	E-Value	Type
Pfam:Ceramidase	6	261	1.1e-57	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000084433
AA Change: L95F

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

SMART Domains

Protein: ENSMUSP00000081473
Gene: ENSMUSG00000038007
AA Change: L95F

Domain	Start	End	E-Value	Type
Pfam:Ceramidase	7	123	2.6e-40	PFAM
Pfam:Ceramidase	112	217	1.5e-20	PFAM

Coding Region Coverage

1x: 93.1%
3x: 90.9%
10x: 85.5%
20x: 73.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The sphingolipid metabolite sphingosine-1-phosphate promotes cell proliferation and survival, whereas its precursor, sphingosine, has the opposite effect. The ceramidase ACER2 hydrolyzes very long chain ceramides to generate sphingosine (Xu et al., 2006 [PubMed 16940153]).[supplied by OMIM, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	A	G	11: 83,331,660 (GRCm39)	D161G	probably damaging	Het
Adam15	C	T	3: 89,251,285 (GRCm39)		probably null	Het
Aoc1l3	A	T	6: 48,964,054 (GRCm39)	M21L	probably benign	Het
Bmi1	T	A	2: 18,687,820 (GRCm39)	Y98*	probably null	Het
Cdon	T	C	9: 35,398,231 (GRCm39)	C983R	probably damaging	Het
Cfap91	C	T	16: 38,153,135 (GRCm39)	V160I	probably benign	Het
Col12a1	T	C	9: 79,585,387 (GRCm39)	R1297G	probably damaging	Het
Cpd	A	T	11: 76,681,850 (GRCm39)	M1132K	probably benign	Het
Dnah17	T	A	11: 117,989,408 (GRCm39)	R1267W	possibly damaging	Het
Dnah9	G	A	11: 65,895,839 (GRCm39)	A2512V	probably benign	Het
Eri3	G	A	4: 117,439,831 (GRCm39)	G175D	probably damaging	Het
Fbxo9	C	A	9: 77,994,793 (GRCm39)	W244L	probably damaging	Het
Fgfr3	A	T	5: 33,889,576 (GRCm39)	H343L	probably benign	Het
Fmnl2	G	A	2: 53,008,208 (GRCm39)	A803T	unknown	Het
Fmnl3	A	G	15: 99,219,134 (GRCm39)		probably null	Het
Fth1	C	A	19: 9,961,973 (GRCm39)	A104E	probably damaging	Het
Gcm1	T	C	9: 77,966,915 (GRCm39)	Y45H	probably damaging	Het
Gm5157	C	G	7: 20,919,007 (GRCm39)	G179R	probably damaging	Het
Gpr179	A	G	11: 97,234,941 (GRCm39)	I463T	probably damaging	Het
Gpr35	T	C	1: 92,910,356 (GRCm39)	Y23H	probably damaging	Het
Inpp4b	C	T	8: 82,761,046 (GRCm39)	H647Y	probably benign	Het
Kif6	A	T	17: 50,062,148 (GRCm39)	K436M	probably benign	Het
Lacc1	T	A	14: 77,272,517 (GRCm39)	Q93L	probably damaging	Het
Lamc1	T	C	1: 153,119,217 (GRCm39)	R801G	probably damaging	Het
Lrp2bp	T	G	8: 46,476,048 (GRCm39)	V263G	probably damaging	Het
Magi3	T	A	3: 103,961,668 (GRCm39)	K453N	probably damaging	Het
Mfsd6	T	A	1: 52,700,039 (GRCm39)	Y703F	probably benign	Het
Mms22l	A	G	4: 24,581,149 (GRCm39)	T820A	probably benign	Het
Ndufa12	T	C	10: 94,034,994 (GRCm39)		probably null	Het
Nlrp12	A	T	7: 3,290,063 (GRCm39)	C150S	possibly damaging	Het
Noc4l	G	A	5: 110,799,305 (GRCm39)	T159I	probably benign	Het
Olfml2b	T	A	1: 170,475,305 (GRCm39)	C77S	probably damaging	Het
Or4c12	A	T	2: 89,774,087 (GRCm39)	I124N	probably damaging	Het
Or9a4	C	A	6: 40,548,650 (GRCm39)	T110K	probably damaging	Het
Pdzd2	A	G	15: 12,399,374 (GRCm39)	V784A	probably damaging	Het
Pip5kl1	A	T	2: 32,473,470 (GRCm39)	Y369F	probably benign	Het
Pkdrej	A	T	15: 85,704,136 (GRCm39)	I600N	probably benign	Het
Psg19	T	C	7: 18,530,831 (GRCm39)	I108V	probably damaging	Het
Pxdn	G	A	12: 30,045,327 (GRCm39)	V539M	probably damaging	Het
Resf1	T	G	6: 149,227,023 (GRCm39)	I23S	probably benign	Het
Rsbn1l	T	A	5: 21,124,653 (GRCm39)	H383L	probably damaging	Het
Scamp2	A	T	9: 57,488,076 (GRCm39)	N118I	probably damaging	Het
Scn2a	T	C	2: 65,546,074 (GRCm39)	V879A	probably damaging	Het
Scn8a	G	A	15: 100,855,370 (GRCm39)	E172K	probably damaging	Het
Slc16a6	C	T	11: 109,349,419 (GRCm39)	C214Y	possibly damaging	Het
Stag1	A	G	9: 100,824,769 (GRCm39)	T922A	possibly damaging	Het
Tarbp1	T	C	8: 127,157,586 (GRCm39)	H1307R	probably damaging	Het
Tut1	T	G	19: 8,936,626 (GRCm39)	V150G	probably benign	Het
Ubr2	G	A	17: 47,255,789 (GRCm39)	R1371W	probably damaging	Het
Vmn2r124	A	G	17: 18,283,487 (GRCm39)	N394D	probably benign	Het
Vmn2r63	T	C	7: 42,553,409 (GRCm39)	T616A	probably damaging	Het
Zp3	G	A	5: 136,013,318 (GRCm39)	V217M	possibly damaging	Het

Other mutations in Acer2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01966:Acer2	APN	4	86,835,815 (GRCm39)	makesense	probably null
IGL02378:Acer2	APN	4	86,804,491 (GRCm39)	missense	probably benign	0.00
IGL02689:Acer2	APN	4	86,835,692 (GRCm39)	missense	probably benign	0.03
IGL02936:Acer2	APN	4	86,818,796 (GRCm39)	missense	possibly damaging	0.65
hectare	UTSW	4	86,818,792 (GRCm39)	missense	probably damaging	1.00
square	UTSW	4	86,805,287 (GRCm39)	missense	probably null	1.00
R0625:Acer2	UTSW	4	86,805,399 (GRCm39)	missense	possibly damaging	0.87
R0734:Acer2	UTSW	4	86,835,796 (GRCm39)	missense	probably benign	0.25
R4273:Acer2	UTSW	4	86,792,835 (GRCm39)	critical splice donor site	probably null
R4384:Acer2	UTSW	4	86,792,805 (GRCm39)	missense	possibly damaging	0.74
R5739:Acer2	UTSW	4	86,818,792 (GRCm39)	missense	probably damaging	1.00
R5926:Acer2	UTSW	4	86,792,805 (GRCm39)	missense	probably benign	0.37
R6267:Acer2	UTSW	4	86,792,823 (GRCm39)	missense	probably damaging	0.99
R6457:Acer2	UTSW	4	86,818,808 (GRCm39)	missense	probably damaging	1.00
R7197:Acer2	UTSW	4	86,805,287 (GRCm39)	missense	probably null	1.00
R7456:Acer2	UTSW	4	86,792,748 (GRCm39)	missense	possibly damaging	0.77
R8016:Acer2	UTSW	4	86,804,443 (GRCm39)	missense	probably damaging	0.98
R8123:Acer2	UTSW	4	86,805,272 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGAGTGATCTGGTGATTCTGACAG -3'
(R):5'- GCTGTCCTGTCAGATCATGAAAC -3'

Sequencing Primer
(F):5'- TGATTCTGACAGCTCCCAGAG -3'
(R):5'- TCCTGTCAGATCATGAAACTGGCAG -3'

Posted On

2019-06-07