Mutagenetix > Incidental Mutation

Incidental Mutation 'R4933:Dagla'

380750

Institutional Source

Beutler Lab

Gene Symbol

Dagla

Ensembl Gene

ENSMUSG00000035735

Gene Name

diacylglycerol lipase, alpha

Synonyms

Nsddr

MMRRC Submission

042533-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4933 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10245265-10304877 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 10269715 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000046358 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039327] [ENSMUST00000039327] [ENSMUST00000125567]

AlphaFold

Q6WQJ1

Predicted Effect

probably null
Transcript: ENSMUST00000039327

SMART Domains

Protein: ENSMUSP00000046358
Gene: ENSMUSG00000035735

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
transmembrane domain	63	85	N/A	INTRINSIC
transmembrane domain	97	119	N/A	INTRINSIC
transmembrane domain	134	156	N/A	INTRINSIC
Pfam:Lipase_3	394	533	1.3e-12	PFAM
low complexity region	616	625	N/A	INTRINSIC
low complexity region	699	717	N/A	INTRINSIC
low complexity region	793	810	N/A	INTRINSIC
low complexity region	878	896	N/A	INTRINSIC
low complexity region	980	1002	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000039327

SMART Domains

Protein: ENSMUSP00000046358
Gene: ENSMUSG00000035735

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
transmembrane domain	63	85	N/A	INTRINSIC
transmembrane domain	97	119	N/A	INTRINSIC
transmembrane domain	134	156	N/A	INTRINSIC
Pfam:Lipase_3	394	533	1.3e-12	PFAM
low complexity region	616	625	N/A	INTRINSIC
low complexity region	699	717	N/A	INTRINSIC
low complexity region	793	810	N/A	INTRINSIC
low complexity region	878	896	N/A	INTRINSIC
low complexity region	980	1002	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125567

SMART Domains

Protein: ENSMUSP00000138702
Gene: ENSMUSG00000035735

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	63	85	N/A	INTRINSIC

Meta Mutation Damage Score

0.9494

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.3%

Validation Efficiency

97% (73/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a diacylglycerol lipase. The encoded enzyme is involved in the biosynthesis of the endocannabinoid 2-arachidonoyl-glycerol.[provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for null mutations have decreased body weight, adult neuronal proliferation, and nervous system endocannaboid levels and abnormal inhibitory postsynaptic currents. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,626,802	E643G	probably damaging	Het
4430402I18Rik	G	T	19: 28,941,775	H195N	possibly damaging	Het
Abca2	T	C	2: 25,444,827	V1937A	probably benign	Het
Acot10	A	T	15: 20,666,330	N108K	possibly damaging	Het
Agtpbp1	A	T	13: 59,500,572	M478K	probably benign	Het
Akirin1	G	A	4: 123,736,858	S191F	probably damaging	Het
Aurkb	T	C	11: 69,048,144		probably benign	Het
Cabyr	T	C	18: 12,744,492		probably benign	Het
Ccp110	A	G	7: 118,725,319	E688G	probably damaging	Het
Champ1	T	A	8: 13,879,137	S432T	probably benign	Het
Crybg1	T	A	10: 43,999,213	N633I	probably damaging	Het
Dkkl1	A	T	7: 45,211,525	L10Q	probably null	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
E430018J23Rik	A	G	7: 127,393,349	Y30H	probably damaging	Het
Fndc7	G	T	3: 108,876,670	Q208K	probably benign	Het
Gins4	A	T	8: 23,234,780	C53S	probably damaging	Het
Gja8	T	A	3: 96,919,035		probably benign	Het
Golph3l	T	A	3: 95,617,423	N328K	probably benign	Het
Haus6	A	C	4: 86,585,287		probably benign	Het
Hdac5	A	G	11: 102,200,563		probably benign	Het
Ide	A	G	19: 37,277,756	Y883H	unknown	Het
Igf2r	A	G	17: 12,691,877		probably null	Het
Kdm3b	T	C	18: 34,810,393	Y723H	probably damaging	Het
Kif21b	G	A	1: 136,151,325		probably null	Het
Lancl1	A	T	1: 67,021,034	N77K	probably benign	Het
Lyst	T	A	13: 13,637,764	N920K	probably damaging	Het
Lyst	G	A	13: 13,759,378	V3554I	probably benign	Het
Map1a	G	A	2: 121,305,905	A2163T	probably damaging	Het
Mapk7	G	T	11: 61,493,908		probably benign	Het
Myo10	C	A	15: 25,781,118	Q154K	probably damaging	Het
Olfr13	C	T	6: 43,174,321	L112F	probably benign	Het
Olfr132	A	G	17: 38,130,550	I214T	probably damaging	Het
Pcdhgb2	G	A	18: 37,692,214	V753M	probably benign	Het
Pnn	T	A	12: 59,070,227	L195Q	probably damaging	Het
Pot1a	A	G	6: 25,771,541	V227A	possibly damaging	Het
Ppp1r21	T	A	17: 88,547,621	D109E	probably benign	Het
Prr15l	G	A	11: 96,934,762	G73S	probably damaging	Het
Rnf148	A	G	6: 23,654,340	F219S	probably benign	Het
Rnpep	C	A	1: 135,267,026		probably benign	Het
Ryr1	T	C	7: 29,104,298	T643A	probably damaging	Het
Ryr2	A	T	13: 11,945,945	C36S	probably damaging	Het
Shc3	G	T	13: 51,442,769	T406N	probably benign	Het
Slit3	G	T	11: 35,688,593	G1199V	probably damaging	Het
Sptbn5	G	A	2: 120,050,120		noncoding transcript	Het
St8sia6	T	C	2: 13,665,442	N236D	probably damaging	Het
Stpg1	A	T	4: 135,506,416	Q3L	probably benign	Het
Sult3a1	T	A	10: 33,866,554	I59N	probably damaging	Het
Svs1	T	C	6: 48,987,492	S145P	probably damaging	Het
Vmn1r208	T	G	13: 22,772,788	I180L	probably benign	Het
Vmn2r51	A	T	7: 10,098,320	N446K	probably damaging	Het
Vmn2r63	A	T	7: 42,903,978	I618N	probably damaging	Het
Wrn	T	C	8: 33,322,343	N182S	probably benign	Het
Zfp296	G	T	7: 19,579,712	C164F	possibly damaging	Het
Zmynd8	A	G	2: 165,834,951	V249A	possibly damaging	Het
Zswim2	A	G	2: 83,925,227	L110P	probably damaging	Het

Other mutations in Dagla

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01484:Dagla	APN	19	10248520	missense	possibly damaging	0.51
IGL01625:Dagla	APN	19	10251202	splice site	probably benign
IGL01697:Dagla	APN	19	10271198	missense	probably benign	0.01
IGL01940:Dagla	APN	19	10252171	missense	probably benign
IGL02330:Dagla	APN	19	10248022	missense	probably damaging	1.00
blondie	UTSW	19	10271101	missense	probably damaging	1.00
dagwood	UTSW	19	10269715	critical splice donor site	probably null
PIT4480001:Dagla	UTSW	19	10260658	missense	probably benign	0.02
R0541:Dagla	UTSW	19	10254806	critical splice donor site	probably null
R0610:Dagla	UTSW	19	10271558	missense	probably damaging	1.00
R0638:Dagla	UTSW	19	10254883	missense	probably damaging	0.97
R0653:Dagla	UTSW	19	10248425	missense	probably damaging	1.00
R1675:Dagla	UTSW	19	10269323	missense	probably benign	0.00
R1822:Dagla	UTSW	19	10263186	missense	possibly damaging	0.94
R1830:Dagla	UTSW	19	10271014	missense	probably benign	0.44
R2303:Dagla	UTSW	19	10252103	missense	probably damaging	1.00
R2568:Dagla	UTSW	19	10248152	missense	probably benign
R2879:Dagla	UTSW	19	10271084	missense	possibly damaging	0.93
R2902:Dagla	UTSW	19	10248103	missense	probably damaging	0.99
R2939:Dagla	UTSW	19	10256364	missense	probably damaging	1.00
R3771:Dagla	UTSW	19	10248467	missense	possibly damaging	0.89
R4176:Dagla	UTSW	19	10263097	missense	probably damaging	1.00
R4255:Dagla	UTSW	19	10256952	nonsense	probably null
R4519:Dagla	UTSW	19	10269732	missense	probably damaging	1.00
R4584:Dagla	UTSW	19	10271009	missense	probably damaging	1.00
R4586:Dagla	UTSW	19	10271009	missense	probably damaging	1.00
R4614:Dagla	UTSW	19	10248277	missense	probably damaging	1.00
R4751:Dagla	UTSW	19	10250394	missense	probably benign	0.00
R5844:Dagla	UTSW	19	10271125	missense	probably damaging	1.00
R5858:Dagla	UTSW	19	10254968	intron	probably benign
R5958:Dagla	UTSW	19	10248424	missense	probably damaging	1.00
R6628:Dagla	UTSW	19	10263227	missense	probably damaging	1.00
R6799:Dagla	UTSW	19	10256850	missense	probably damaging	1.00
R7072:Dagla	UTSW	19	10256295	critical splice donor site	probably null
R7253:Dagla	UTSW	19	10262581	splice site	probably null
R7451:Dagla	UTSW	19	10253355	missense	probably damaging	1.00
R7654:Dagla	UTSW	19	10248206	missense	probably benign	0.01
R7941:Dagla	UTSW	19	10271503	missense	probably damaging	0.99
R7980:Dagla	UTSW	19	10252042	missense	possibly damaging	0.82
R8293:Dagla	UTSW	19	10252037	critical splice donor site	probably null
R8327:Dagla	UTSW	19	10251087	missense	probably benign	0.11
R8442:Dagla	UTSW	19	10263092	critical splice donor site	probably null
R8442:Dagla	UTSW	19	10271519	missense	probably damaging	0.99
R8717:Dagla	UTSW	19	10248223	missense	probably benign	0.03
R8728:Dagla	UTSW	19	10248407	missense	probably damaging	1.00
R9053:Dagla	UTSW	19	10269251	missense	probably damaging	1.00
R9179:Dagla	UTSW	19	10251161	missense	possibly damaging	0.83
R9275:Dagla	UTSW	19	10254856	missense	probably damaging	1.00
R9387:Dagla	UTSW	19	10271101	missense	probably damaging	1.00
R9489:Dagla	UTSW	19	10255689	missense	probably damaging	1.00
R9498:Dagla	UTSW	19	10254854	nonsense	probably null
R9539:Dagla	UTSW	19	10251065	critical splice donor site	probably null
R9605:Dagla	UTSW	19	10255689	missense	probably damaging	1.00
X0021:Dagla	UTSW	19	10271164	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTGGACAGTTCTGTGTCTG -3'
(R):5'- CACAATGCAAGAGATCAGGC -3'

Sequencing Primer
(F):5'- ACAGTTCTGTGTCTGCTGCTG -3'
(R):5'- CAGAGCCAGGATGAGGTTCC -3'

Posted On

2016-04-15