Mutagenetix > Incidental Mutation

Incidental Mutation 'R0625:Acer2'

57404

Institutional Source

Beutler Lab

Gene Symbol

Acer2

Ensembl Gene

ENSMUSG00000038007

Gene Name

alkaline ceramidase 2

Synonyms

2410116I05Rik, Asah3l

MMRRC Submission

038814-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.260) question?

Stock #

R0625 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86792633-86853059 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86805399 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 121 (D121G)

Ref Sequence

ENSEMBL: ENSMUSP00000081473 (fasta)

Gene Model

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

AlphaFold

Q8VD53

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045224
AA Change: D121G

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000040048
Gene: ENSMUSG00000038007
AA Change: D121G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084433
AA Change: D121G

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000081473
Gene: ENSMUSG00000038007
AA Change: D121G

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

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.2%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	T	C	9: 53,319,365 (GRCm39)	S2P	probably benign	Het
Abca16	A	C	7: 120,035,116 (GRCm39)	T301P	probably damaging	Het
Adgrd1	T	C	5: 129,248,995 (GRCm39)		probably null	Het
Arhgap11a	T	C	2: 113,672,056 (GRCm39)	I249V	probably benign	Het
Arhgap22	A	G	14: 33,088,671 (GRCm39)	E219G	probably benign	Het
C2cd4b	T	A	9: 67,667,033 (GRCm39)	S10T	probably benign	Het
Cnot6	A	T	11: 49,573,998 (GRCm39)	I224N	probably damaging	Het
Ctrc	T	C	4: 141,568,829 (GRCm39)	T125A	probably damaging	Het
Cxxc5	T	G	18: 35,991,642 (GRCm39)	S14R	unknown	Het
Cyp4f37	T	G	17: 32,853,652 (GRCm39)	F445L	probably damaging	Het
Dcbld1	T	G	10: 52,188,946 (GRCm39)	I186S	probably benign	Het
Dmxl2	T	C	9: 54,289,986 (GRCm39)	T2510A	probably benign	Het
Dnah3	A	G	7: 119,671,110 (GRCm39)	I591T	possibly damaging	Het
Dock5	A	T	14: 68,078,612 (GRCm39)	I204N	probably benign	Het
Dysf	G	A	6: 84,088,969 (GRCm39)		probably null	Het
Erich5	A	G	15: 34,471,515 (GRCm39)	E248G	probably damaging	Het
Fhip1a	A	G	3: 85,637,807 (GRCm39)	V164A	possibly damaging	Het
Foxm1	A	G	6: 128,350,834 (GRCm39)	S712G	probably damaging	Het
Frmpd1	A	G	4: 45,284,055 (GRCm39)	T959A	probably benign	Het
Gfra4	C	T	2: 130,882,176 (GRCm39)	V277I	probably null	Het
Hacd4	T	C	4: 88,353,247 (GRCm39)	I82V	probably benign	Het
Itih2	C	T	2: 10,128,225 (GRCm39)	V159I	possibly damaging	Het
Itpr2	T	A	6: 146,068,149 (GRCm39)	M2410L	probably benign	Het
Marchf11	A	G	15: 26,311,129 (GRCm39)	I202V	probably damaging	Het
Marchf3	A	G	18: 56,944,902 (GRCm39)		probably null	Het
Med12l	G	A	3: 59,154,858 (GRCm39)	E1135K	probably damaging	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Mlx	T	C	11: 100,978,608 (GRCm39)	L78P	possibly damaging	Het
Muc5b	T	C	7: 141,400,164 (GRCm39)	C473R	unknown	Het
N4bp2l1	T	A	5: 150,500,210 (GRCm39)	R66*	probably null	Het
Nes	A	G	3: 87,884,479 (GRCm39)	T913A	possibly damaging	Het
Oas1a	T	C	5: 121,037,322 (GRCm39)	E235G	probably damaging	Het
Or5p56	T	C	7: 107,590,396 (GRCm39)	S275P	probably damaging	Het
Or8b1c	T	C	9: 38,384,504 (GRCm39)	S154P	possibly damaging	Het
Or8i2	T	A	2: 86,851,964 (GRCm39)	H308L	probably benign	Het
Parn	C	T	16: 13,458,158 (GRCm39)	V286I	probably benign	Het
Paxip1	G	A	5: 27,970,940 (GRCm39)	Q470*	probably null	Het
Phc2	C	G	4: 128,617,503 (GRCm39)	H510D	possibly damaging	Het
Pla2g4f	T	A	2: 120,135,522 (GRCm39)	D384V	probably damaging	Het
Plpbp	A	T	8: 27,535,159 (GRCm39)	N68I	probably damaging	Het
Podxl2	G	A	6: 88,826,937 (GRCm39)	A123V	possibly damaging	Het
Pole	A	T	5: 110,473,416 (GRCm39)	T1737S	possibly damaging	Het
Ppp3cc	T	C	14: 70,462,476 (GRCm39)	E396G	probably damaging	Het
Pramel7	T	A	2: 87,321,352 (GRCm39)	I228F	probably benign	Het
Prl7d1	A	T	13: 27,894,123 (GRCm39)	C149S	probably benign	Het
Qtrt1	G	T	9: 21,329,584 (GRCm39)	M217I	probably benign	Het
Sec24a	T	A	11: 51,620,281 (GRCm39)	D456V	probably damaging	Het
Shox2	T	G	3: 66,888,877 (GRCm39)		probably null	Het
Skint2	T	A	4: 112,481,283 (GRCm39)	S49T	probably damaging	Het
Smarca5	A	G	8: 81,447,315 (GRCm39)		probably null	Het
Sorcs2	T	A	5: 36,181,916 (GRCm39)	D1068V	possibly damaging	Het
Tmem114	T	C	16: 8,229,966 (GRCm39)		probably null	Het
Ttc7b	T	A	12: 100,321,305 (GRCm39)	M24L	probably benign	Het
Ttll3	A	G	6: 113,385,864 (GRCm39)		probably null	Het
Usp7	C	T	16: 8,522,846 (GRCm39)	D102N	probably benign	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
PIT4280001:Acer2	UTSW	4	86,805,320 (GRCm39)	missense	probably damaging	1.00
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'- TGATTCTGACAGCTCCCAGAGAAGG -3'
(R):5'- TGGCTTGCACTGGATGATATACGC -3'

Sequencing Primer
(F):5'- AAGCCGCGAGTCTGTTCTG -3'
(R):5'- GAAGTGTTTTCACCCAGATCAG -3'

Posted On

2013-07-11