Mutagenetix > Incidental Mutation

Incidental Mutation 'R6968:Asah2'

542145

Institutional Source

Beutler Lab

Gene Symbol

Asah2

Ensembl Gene

ENSMUSG00000024887

Gene Name

N-acylsphingosine amidohydrolase 2

Synonyms

neutral/alkaline ceramidase

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.299) question?

Stock #

R6968 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31984654-32061469 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32012513 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 489 (I489K)

Ref Sequence

ENSEMBL: ENSMUSP00000093830 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096119]

AlphaFold

Q9JHE3

Predicted Effect

probably benign
Transcript: ENSMUST00000096119
AA Change: I489K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000093830
Gene: ENSMUSG00000024887
AA Change: I489K

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
low complexity region	56	67	N/A	INTRINSIC
Pfam:Ceramidase_alk	78	584	1.4e-222	PFAM
Pfam:Ceramidse_alk_C	586	753	8e-50	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.1%

Validation Efficiency

97% (57/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mitogenic and apoptosis-inducing activities, and its phosphorylated form functions as an intra- and intercellular second messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed 11328816]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation are defective in the intestinal digestion of dietary ceramide but exhibit a normal life span with no obvious abnormalities or significant alterations in total ceramide levels in major organ tissues. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apip	C	T	2: 103,089,453	L125F	possibly damaging	Het
Arfgef1	T	C	1: 10,153,678	Q1465R	probably damaging	Het
Arfgef1	G	T	1: 10,153,679	Q1465K	probably damaging	Het
Arhgef5	T	C	6: 43,275,342	V1009A	probably benign	Het
Armc4	T	C	18: 7,273,155		probably null	Het
Bace1	A	G	9: 45,854,965		probably null	Het
Bhlhe40	TG	TGG	6: 108,664,857	254	probably null	Het
Ccdc162	T	C	10: 41,673,844	T348A	possibly damaging	Het
Cdkn2aip	C	A	8: 47,713,887		probably benign	Het
Cep78	A	C	19: 15,981,738	F111V	probably benign	Het
Chd4	T	A	6: 125,108,318	L784Q	probably damaging	Het
Chrna6	C	T	8: 27,406,655	C398Y	probably benign	Het
Cmip	T	C	8: 117,377,156	Y128H	probably damaging	Het
Cpne2	C	T	8: 94,548,502	P46L	probably damaging	Het
Cyp2w1	A	G	5: 139,353,991	Q112R	probably damaging	Het
Entpd3	A	T	9: 120,560,656	E336V	probably benign	Het
Fbxw28	A	C	9: 109,330,788	S197A	probably benign	Het
Foxk2	T	C	11: 121,260,482	F118L	possibly damaging	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,649,576		probably benign	Het
Hinfp	A	C	9: 44,297,985	S306A	probably benign	Het
Hspg2	T	A	4: 137,535,156	V1663E	probably damaging	Het
Inpp4b	T	C	8: 81,844,457	I125T	probably benign	Het
Jag2	C	T	12: 112,914,258	E592K	probably benign	Het
Krt23	T	A	11: 99,481,074	E317V	probably damaging	Het
Ltbp2	C	T	12: 84,789,083		probably null	Het
Mast4	G	T	13: 102,798,078	N152K	probably damaging	Het
Mast4	C	T	13: 102,804,647	V301I	probably damaging	Het
Mier2	G	A	10: 79,540,642		probably benign	Het
Mmp9	A	G	2: 164,952,940	T584A	probably benign	Het
Necab1	T	C	4: 14,957,852	E335G	probably damaging	Het
Nlrp9b	T	A	7: 20,049,508	N925K	probably damaging	Het
Nr4a2	T	C	2: 57,108,746		probably null	Het
Nrg2	T	C	18: 36,196,446	I239V	probably benign	Het
Nsun2	A	G	13: 69,631,290	D562G	probably benign	Het
Olfr391-ps	A	G	11: 73,799,379	I126T	possibly damaging	Het
Ormdl3	T	A	11: 98,584,115	M1L	probably benign	Het
Pcdh10	T	A	3: 45,379,542	V97D	probably damaging	Het
Pde3a	T	C	6: 141,487,932	F847L	probably damaging	Het
Ppp1r13b	C	A	12: 111,833,178	V722F	possibly damaging	Het
Rhoh	A	G	5: 65,892,519	D44G	possibly damaging	Het
Riox1	C	T	12: 83,951,373	R228C	probably damaging	Het
Rtl1	C	T	12: 109,594,679	R242Q	unknown	Het
Saxo2	T	C	7: 82,643,761	T43A	probably damaging	Het
Sec16a	G	A	2: 26,430,486	R1361C	probably damaging	Het
Sema3f	C	T	9: 107,691,449		probably null	Het
Snap25	T	C	2: 136,769,770	M64T	probably benign	Het
Spef2	T	C	15: 9,597,340	N1410S	probably benign	Het
Sstr2	T	C	11: 113,624,948	I231T	probably damaging	Het
Stam	A	T	2: 14,116,018	H78L	probably damaging	Het
Suox	C	T	10: 128,671,833	V109I	possibly damaging	Het
Syne1	T	C	10: 5,117,041	R7075G	probably benign	Het
Tenm3	C	T	8: 48,236,439	D2038N	probably damaging	Het
Tln1	C	T	4: 43,550,217	R482Q	probably benign	Het
Tnrc6a	T	C	7: 123,182,427	V1440A	probably benign	Het
Togaram2	A	G	17: 71,709,613	D655G	probably damaging	Het
Trgv2	A	T	13: 19,336,726	I66K	probably damaging	Het
Vmn1r113	A	T	7: 20,787,951	I223F	probably damaging	Het
Vmn2r62	T	A	7: 42,788,442	H206L	probably benign	Het
Zan	T	A	5: 137,461,813	Y1272F	unknown	Het
Zfp39	T	C	11: 58,891,480	H152R	probably benign	Het
Zfp41	T	A	15: 75,618,461	Y87*	probably null	Het
Zfp933	A	T	4: 147,826,197	L314H	probably damaging	Het

Other mutations in Asah2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01108:Asah2	APN	19	32008681	splice site	probably benign
IGL02001:Asah2	APN	19	32043539	nonsense	probably null
IGL02228:Asah2	APN	19	32016714	missense	probably benign	0.09
IGL02377:Asah2	APN	19	32009414	missense	probably benign	0.30
IGL03070:Asah2	APN	19	32006344	missense	probably damaging	1.00
IGL03233:Asah2	APN	19	32054631	missense	probably benign	0.18
IGL03244:Asah2	APN	19	31986942	missense	probably damaging	1.00
R0008:Asah2	UTSW	19	32003731	nonsense	probably null
R0103:Asah2	UTSW	19	32018977	missense	probably benign	0.01
R0103:Asah2	UTSW	19	32018977	missense	probably benign	0.01
R0302:Asah2	UTSW	19	32052956	missense	probably benign	0.01
R0497:Asah2	UTSW	19	32054631	missense	probably benign	0.18
R0614:Asah2	UTSW	19	32016728	missense	probably damaging	1.00
R0639:Asah2	UTSW	19	32008639	missense	probably damaging	0.99
R0715:Asah2	UTSW	19	32016776	missense	probably damaging	0.97
R1332:Asah2	UTSW	19	32044941	missense	probably damaging	1.00
R1336:Asah2	UTSW	19	32044941	missense	probably damaging	1.00
R2045:Asah2	UTSW	19	32052956	missense	probably benign	0.01
R2062:Asah2	UTSW	19	32024874	missense	probably damaging	0.99
R4083:Asah2	UTSW	19	31986784	missense	probably benign	0.01
R4698:Asah2	UTSW	19	32054471	splice site	probably null
R4731:Asah2	UTSW	19	31995358	missense	probably benign	0.41
R4732:Asah2	UTSW	19	31995358	missense	probably benign	0.41
R4733:Asah2	UTSW	19	31995358	missense	probably benign	0.41
R4773:Asah2	UTSW	19	32052858	missense	probably damaging	1.00
R4930:Asah2	UTSW	19	32052906	missense	probably benign	0.35
R5081:Asah2	UTSW	19	32014308	missense	probably benign	0.07
R5741:Asah2	UTSW	19	32008615	missense	probably damaging	1.00
R5873:Asah2	UTSW	19	32003682	critical splice donor site	probably null
R5905:Asah2	UTSW	19	32016514	missense	probably damaging	1.00
R6027:Asah2	UTSW	19	32044951	missense	probably benign	0.01
R6028:Asah2	UTSW	19	32016514	missense	probably damaging	1.00
R6187:Asah2	UTSW	19	32024867	missense	probably damaging	0.99
R6667:Asah2	UTSW	19	31995358	missense	probably benign	0.41
R7010:Asah2	UTSW	19	32054554	missense	probably benign	0.00
R7404:Asah2	UTSW	19	32057854	missense	probably benign	0.13
R7575:Asah2	UTSW	19	32016703	missense	probably benign	0.11
R7797:Asah2	UTSW	19	32022361	missense	probably damaging	1.00
R8492:Asah2	UTSW	19	32006259	missense	probably benign	0.25
R8682:Asah2	UTSW	19	32052877	missense	probably damaging	1.00
R8766:Asah2	UTSW	19	32057880	missense	possibly damaging	0.46
R8873:Asah2	UTSW	19	32044888	critical splice donor site	probably null
R8974:Asah2	UTSW	19	32052905	missense	probably benign
R9088:Asah2	UTSW	19	32052960	missense	probably damaging	1.00
R9405:Asah2	UTSW	19	32008645	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- CCAAGAGATCAGCAGAGAATTCTC -3'
(R):5'- ACGTGTTTCATGTTACAGCAGAG -3'

Sequencing Primer
(F):5'- CTCTGACCTGTACGAGTATAGCATG -3'
(R):5'- GTTTCATGTTACAGCAGAGTTAGAAG -3'

Posted On

2018-11-28