Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02936:Acer2'

364322

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02936

Quality Score

Status

Chromosome

Chromosomal Location

86792633-86853059 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86818796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 148 (N148I)

Ref Sequence

ENSEMBL: ENSMUSP00000040048 (fasta)

Gene Model

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

AlphaFold

Q8VD53

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045224
AA Change: N148I

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000040048
Gene: ENSMUSG00000038007
AA Change: N148I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000084433

SMART Domains

Protein: ENSMUSP00000081473
Gene: ENSMUSG00000038007

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128712

Coding Region Coverage

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	G	A	9: 57,165,687 (GRCm39)	T229I	possibly damaging	Het
Acad11	T	C	9: 103,990,711 (GRCm39)	S439P	probably benign	Het
Adgre1	A	G	17: 57,785,833 (GRCm39)	I860V	probably benign	Het
Asb2	A	G	12: 103,302,173 (GRCm39)	I125T	probably benign	Het
Atp13a2	G	T	4: 140,729,260 (GRCm39)	L614F	probably benign	Het
Car7	A	G	8: 105,274,854 (GRCm39)	T132A	possibly damaging	Het
Cfap221	T	C	1: 119,912,482 (GRCm39)	D135G	probably damaging	Het
Crtc3	A	G	7: 80,239,511 (GRCm39)	F614L	probably damaging	Het
Csn3	T	G	5: 88,077,992 (GRCm39)	I166S	possibly damaging	Het
Dna2	T	G	10: 62,792,879 (GRCm39)	L298R	probably damaging	Het
Ece1	T	C	4: 137,673,612 (GRCm39)	S387P	probably benign	Het
Fbxo28	C	T	1: 182,169,093 (GRCm39)	G15D	unknown	Het
Fbxw24	A	T	9: 109,454,026 (GRCm39)		probably null	Het
Foxd3	T	A	4: 99,545,052 (GRCm39)	V64E	probably benign	Het
Galnt7	A	C	8: 58,037,248 (GRCm39)	V47G	probably benign	Het
Gcc2	A	T	10: 58,131,962 (GRCm39)	L1453F	probably damaging	Het
Gcnt4	G	A	13: 97,082,919 (GRCm39)	V72I	probably benign	Het
Gm10269	A	C	18: 20,816,010 (GRCm39)		probably null	Het
Hmcn1	T	G	1: 150,573,273 (GRCm39)	Q2125H	probably damaging	Het
Iho1	T	C	9: 108,289,702 (GRCm39)	I173M	possibly damaging	Het
Llcfc1	T	A	6: 41,661,593 (GRCm39)	S48T	probably benign	Het
Met	G	T	6: 17,553,396 (GRCm39)	V1061F	probably damaging	Het
Mthfd2	G	A	6: 83,288,342 (GRCm39)	H138Y	probably damaging	Het
Mtus1	A	T	8: 41,452,554 (GRCm39)	D1041E	possibly damaging	Het
Mug2	G	A	6: 122,058,346 (GRCm39)		probably null	Het
Nos3	C	T	5: 24,585,991 (GRCm39)	T878I	probably damaging	Het
Or4c15	A	G	2: 88,760,128 (GRCm39)	M177T	probably benign	Het
Or52b1	A	T	7: 104,979,212 (GRCm39)	Y62*	probably null	Het
Pbrm1	T	A	14: 30,783,470 (GRCm39)	V497D	probably damaging	Het
Plcd1	T	C	9: 118,903,267 (GRCm39)	E471G	probably damaging	Het
Poc1a	A	G	9: 106,162,226 (GRCm39)	T84A	probably damaging	Het
Ppm1f	A	G	16: 16,733,100 (GRCm39)	H209R	probably damaging	Het
Rccd1	T	A	7: 79,966,794 (GRCm39)	K329N	probably damaging	Het
Serpinb9g	A	T	13: 33,678,865 (GRCm39)	N245I	possibly damaging	Het
Slc22a26	A	C	19: 7,768,470 (GRCm39)	F196V	probably damaging	Het
Tial1	G	A	7: 128,044,387 (GRCm39)		probably benign	Het
Trpa1	A	T	1: 14,946,193 (GRCm39)		probably null	Het
Vmn1r15	A	T	6: 57,235,803 (GRCm39)	K224*	probably null	Het
Wdr72	A	T	9: 74,059,862 (GRCm39)	D424V	probably damaging	Het
Wt1	A	G	2: 104,999,384 (GRCm39)	K308E	probably damaging	Het
Zwint	T	C	10: 72,492,956 (GRCm39)	S193P	probably 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
hectare	UTSW	4	86,818,792 (GRCm39)	missense	probably damaging	1.00
square	UTSW	4	86,805,287 (GRCm39)	missense	probably null	1.00
PIT4280001:Acer2	UTSW	4	86,805,320 (GRCm39)	missense	probably damaging	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

Posted On

2015-12-18