Mutagenetix > Incidental Mutation

Incidental Mutation 'R6027:Asah2'

480141

Institutional Source

Beutler Lab

Gene Symbol

Asah2

Ensembl Gene

ENSMUSG00000024887

Gene Name

N-acylsphingosine amidohydrolase 2

Synonyms

neutral/alkaline ceramidase

MMRRC Submission

044199-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.301) question?

Stock #

R6027 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31984654-32061469 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32044951 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 228 (N228D)

Ref Sequence

ENSEMBL: ENSMUSP00000093830 (fasta)

Gene Model

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

AlphaFold

Q9JHE3

Predicted Effect

probably benign
Transcript: ENSMUST00000096119
AA Change: N228D

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000093830
Gene: ENSMUSG00000024887
AA Change: N228D

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

Validation Efficiency

100% (68/68)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,398,177 (GRCm38)	V2299A	probably benign	Het
Acacb	A	G	5: 114,165,600 (GRCm38)	D28G	probably benign	Het
Adamts6	G	A	13: 104,479,535 (GRCm38)	G1035D	probably damaging	Het
Adamts7	A	C	9: 90,191,025 (GRCm38)	Y755S	probably damaging	Het
Afg3l2	G	T	18: 67,421,259 (GRCm38)	L458M	probably damaging	Het
Ank2	T	C	3: 126,997,879 (GRCm38)	T763A	possibly damaging	Het
Armc9	G	C	1: 86,244,667 (GRCm38)	L105F	probably damaging	Het
Ash1l	T	C	3: 88,985,019 (GRCm38)	Y1402H	probably damaging	Het
Aspm	T	G	1: 139,463,056 (GRCm38)	V693G	probably damaging	Het
Bptf	T	C	11: 107,074,945 (GRCm38)	E1141G	probably damaging	Het
Col12a1	C	T	9: 79,656,578 (GRCm38)		probably null	Het
Csmd2	G	A	4: 128,559,946 (GRCm38)	D3475N	unknown	Het
Dctn5	T	C	7: 122,133,341 (GRCm38)		probably benign	Het
Dhrs4	A	G	14: 55,486,123 (GRCm38)	K18E	probably benign	Het
Eci2	A	T	13: 34,985,947 (GRCm38)		probably null	Het
Efcab6	A	G	15: 83,967,721 (GRCm38)	F319L	probably benign	Het
Elane	A	T	10: 79,887,018 (GRCm38)	H86L	probably damaging	Het
Endod1	A	T	9: 14,357,597 (GRCm38)	Y197*	probably null	Het
Eno4	A	G	19: 58,946,830 (GRCm38)	D158G	probably damaging	Het
Fam217a	T	A	13: 34,910,994 (GRCm38)	T170S	possibly damaging	Het
Fbxo7	A	G	10: 86,048,086 (GRCm38)	D517G	probably damaging	Het
Fkbp3	G	T	12: 65,073,918 (GRCm38)	A2E	possibly damaging	Het
Gan	A	G	8: 117,158,295 (GRCm38)	Y54C	probably damaging	Het
Gdap1l1	T	A	2: 163,451,611 (GRCm38)	N194K	possibly damaging	Het
Gnptab	A	G	10: 88,433,225 (GRCm38)	T597A	probably damaging	Het
Hmcn1	A	G	1: 150,802,895 (GRCm38)	S492P	possibly damaging	Het
Hmox1	C	A	8: 75,096,871 (GRCm38)	H56N	probably damaging	Het
Kank3	C	T	17: 33,818,114 (GRCm38)	P131S	possibly damaging	Het
Kif14	T	C	1: 136,483,059 (GRCm38)		probably null	Het
Kif1a	A	T	1: 93,025,643 (GRCm38)	M1274K	probably benign	Het
Kmt2a	A	T	9: 44,819,290 (GRCm38)		probably benign	Het
Lypla1	T	C	1: 4,837,076 (GRCm38)		probably null	Het
Man2b1	C	T	8: 85,096,752 (GRCm38)	T905I	probably damaging	Het
Mmp15	C	A	8: 95,372,176 (GRCm38)	H544N	probably benign	Het
Myh7	A	T	14: 54,970,802 (GRCm38)	N1933K	probably benign	Het
Ndst4	G	T	3: 125,713,376 (GRCm38)	A730S	probably benign	Het
Nmur1	G	A	1: 86,387,331 (GRCm38)	Q238*	probably null	Het
Nwd2	C	T	5: 63,808,220 (GRCm38)	P1716S	possibly damaging	Het
Or13c7c	A	G	4: 43,835,842 (GRCm38)	V216A	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540 (GRCm38)		probably null	Het
Or8k38	T	G	2: 86,657,804 (GRCm38)	Y218S	probably damaging	Het
P2ry6	T	G	7: 100,938,508 (GRCm38)	M215L	probably benign	Het
Parp4	G	A	14: 56,629,158 (GRCm38)	E1060K	probably benign	Het
Pde10a	A	G	17: 8,964,677 (GRCm38)	I822V	possibly damaging	Het
Pira13	T	C	7: 3,824,639 (GRCm38)	Y173C	possibly damaging	Het
Pkd1l1	C	A	11: 8,916,272 (GRCm38)	G528*	probably null	Het
Ptk2	T	A	15: 73,229,913 (GRCm38)	Q816L	probably damaging	Het
Ptprg	T	C	14: 12,220,613 (GRCm38)	F442L	possibly damaging	Het
Qrfpr	A	G	3: 36,222,038 (GRCm38)	Y68H	probably benign	Het
Ripk4	A	G	16: 97,744,074 (GRCm38)	W458R	probably damaging	Het
Ros1	G	T	10: 52,163,968 (GRCm38)	T309N	possibly damaging	Het
Rps27a	T	C	11: 29,547,808 (GRCm38)		probably benign	Het
Sarm1	T	A	11: 78,483,558 (GRCm38)	M577L	probably benign	Het
Scin	T	C	12: 40,077,516 (GRCm38)	Y425C	probably damaging	Het
Serpina12	T	A	12: 104,031,077 (GRCm38)	Y395F	probably benign	Het
Sfxn2	T	A	19: 46,582,852 (GRCm38)	Y69*	probably null	Het
Skint6	T	C	4: 113,096,564 (GRCm38)		probably null	Het
Slc7a1	A	C	5: 148,333,964 (GRCm38)	I564S	possibly damaging	Het
Smc6	T	A	12: 11,306,178 (GRCm38)	Y933N	probably benign	Het
Sp110	T	C	1: 85,577,318 (GRCm38)	S438G	possibly damaging	Het
St8sia4	T	A	1: 95,653,674 (GRCm38)	R114S	probably damaging	Het
Trim11	C	T	11: 58,978,463 (GRCm38)	A75V	possibly damaging	Het
Tufm	T	A	7: 126,487,748 (GRCm38)	H68Q	probably damaging	Het
Ythdc2	T	A	18: 44,860,436 (GRCm38)	D194E	probably benign	Het

Other mutations in Asah2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01108:Asah2	APN	19	32,008,681 (GRCm38)	splice site	probably benign
IGL02001:Asah2	APN	19	32,043,539 (GRCm38)	nonsense	probably null
IGL02228:Asah2	APN	19	32,016,714 (GRCm38)	missense	probably benign	0.09
IGL02377:Asah2	APN	19	32,009,414 (GRCm38)	missense	probably benign	0.30
IGL03070:Asah2	APN	19	32,006,344 (GRCm38)	missense	probably damaging	1.00
IGL03233:Asah2	APN	19	32,054,631 (GRCm38)	missense	probably benign	0.18
IGL03244:Asah2	APN	19	31,986,942 (GRCm38)	missense	probably damaging	1.00
R0008:Asah2	UTSW	19	32,003,731 (GRCm38)	nonsense	probably null
R0103:Asah2	UTSW	19	32,018,977 (GRCm38)	missense	probably benign	0.01
R0103:Asah2	UTSW	19	32,018,977 (GRCm38)	missense	probably benign	0.01
R0302:Asah2	UTSW	19	32,052,956 (GRCm38)	missense	probably benign	0.01
R0497:Asah2	UTSW	19	32,054,631 (GRCm38)	missense	probably benign	0.18
R0614:Asah2	UTSW	19	32,016,728 (GRCm38)	missense	probably damaging	1.00
R0639:Asah2	UTSW	19	32,008,639 (GRCm38)	missense	probably damaging	0.99
R0715:Asah2	UTSW	19	32,016,776 (GRCm38)	missense	probably damaging	0.97
R1332:Asah2	UTSW	19	32,044,941 (GRCm38)	missense	probably damaging	1.00
R1336:Asah2	UTSW	19	32,044,941 (GRCm38)	missense	probably damaging	1.00
R2045:Asah2	UTSW	19	32,052,956 (GRCm38)	missense	probably benign	0.01
R2062:Asah2	UTSW	19	32,024,874 (GRCm38)	missense	probably damaging	0.99
R4083:Asah2	UTSW	19	31,986,784 (GRCm38)	missense	probably benign	0.01
R4698:Asah2	UTSW	19	32,054,471 (GRCm38)	splice site	probably null
R4731:Asah2	UTSW	19	31,995,358 (GRCm38)	missense	probably benign	0.41
R4732:Asah2	UTSW	19	31,995,358 (GRCm38)	missense	probably benign	0.41
R4733:Asah2	UTSW	19	31,995,358 (GRCm38)	missense	probably benign	0.41
R4773:Asah2	UTSW	19	32,052,858 (GRCm38)	missense	probably damaging	1.00
R4930:Asah2	UTSW	19	32,052,906 (GRCm38)	missense	probably benign	0.35
R5081:Asah2	UTSW	19	32,014,308 (GRCm38)	missense	probably benign	0.07
R5741:Asah2	UTSW	19	32,008,615 (GRCm38)	missense	probably damaging	1.00
R5873:Asah2	UTSW	19	32,003,682 (GRCm38)	critical splice donor site	probably null
R5905:Asah2	UTSW	19	32,016,514 (GRCm38)	missense	probably damaging	1.00
R6028:Asah2	UTSW	19	32,016,514 (GRCm38)	missense	probably damaging	1.00
R6187:Asah2	UTSW	19	32,024,867 (GRCm38)	missense	probably damaging	0.99
R6667:Asah2	UTSW	19	31,995,358 (GRCm38)	missense	probably benign	0.41
R6968:Asah2	UTSW	19	32,012,513 (GRCm38)	missense	probably benign
R7010:Asah2	UTSW	19	32,054,554 (GRCm38)	missense	probably benign	0.00
R7404:Asah2	UTSW	19	32,057,854 (GRCm38)	missense	probably benign	0.13
R7575:Asah2	UTSW	19	32,016,703 (GRCm38)	missense	probably benign	0.11
R7797:Asah2	UTSW	19	32,022,361 (GRCm38)	missense	probably damaging	1.00
R8492:Asah2	UTSW	19	32,006,259 (GRCm38)	missense	probably benign	0.25
R8682:Asah2	UTSW	19	32,052,877 (GRCm38)	missense	probably damaging	1.00
R8766:Asah2	UTSW	19	32,057,880 (GRCm38)	missense	possibly damaging	0.46
R8873:Asah2	UTSW	19	32,044,888 (GRCm38)	critical splice donor site	probably null
R8974:Asah2	UTSW	19	32,052,905 (GRCm38)	missense	probably benign
R9088:Asah2	UTSW	19	32,052,960 (GRCm38)	missense	probably damaging	1.00
R9405:Asah2	UTSW	19	32,008,645 (GRCm38)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- TTAGTACGCTTCTGGGACCC -3'
(R):5'- ACCTCTGGATTGACACTGATCCTG -3'

Sequencing Primer
(F):5'- TTCTGGGACCCCACGACATC -3'
(R):5'- CTCCAAAGACACCTAAGCTT -3'

Posted On

2017-06-26