Mutagenetix > Incidental Mutations

Incidental Mutation 'R7941:Dagla'

649078

Institutional Source

Beutler Lab

Gene Symbol

Dagla

Ensembl Gene

ENSMUSG00000035735

Gene Name

diacylglycerol lipase, alpha

Synonyms

Nsddr

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7941 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10245265-10304877 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10271503 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 29 (H29R)

Ref Sequence

ENSEMBL: ENSMUSP00000046358 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000039327
AA Change: H29R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000046358
Gene: ENSMUSG00000035735
AA Change: H29R

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

possibly damaging
Transcript: ENSMUST00000125567
AA Change: H29R

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138702
Gene: ENSMUSG00000035735
AA Change: H29R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (43/44)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	T	C	2: 31,689,679		probably benign	Het
AI467606	A	G	7: 127,092,421	E56G	probably damaging	Het
Ak9	C	T	10: 41,409,137	P1403S	unknown	Het
Akr1c14	A	G	13: 4,059,713	K28E	probably benign	Het
Ampd2	C	A	3: 108,080,116	V134L	probably benign	Het
Anks1b	A	T	10: 90,577,155	N55I	probably damaging	Het
C87414	A	T	5: 93,638,028	V131D	probably benign	Het
Cabyr	T	C	18: 12,744,768	L54P	probably damaging	Het
Cachd1	A	T	4: 100,988,173	N954I	probably damaging	Het
Cenpf	A	G	1: 189,657,286	S1450P	probably damaging	Het
Chst10	T	A	1: 38,871,691	I131L	probably damaging	Het
Cluh	A	T	11: 74,659,757	M270L	probably benign	Het
Dusp5	A	G	19: 53,537,533	N202S	probably benign	Het
Elavl3	A	G	9: 22,036,316	I110T	possibly damaging	Het
Fam222b	G	T	11: 78,155,059	G482V	possibly damaging	Het
Fbxl7	A	G	15: 26,543,613	L316P	probably damaging	Het
Gad1	T	A	2: 70,594,585		probably null	Het
H2-K1	T	C	17: 33,999,331	T204A	probably benign	Het
Hmcn1	A	G	1: 150,650,084	V3296A	possibly damaging	Het
Hyal1	T	C	9: 107,578,100	F203S	probably damaging	Het
Il16	T	A	7: 83,682,829	D181V	probably damaging	Het
Ip6k1	T	C	9: 108,024,432	F69L	probably damaging	Het
Klf4	G	A	4: 55,531,755		probably benign	Het
Lsr	T	G	7: 30,973,095	I27L	probably benign	Het
Mettl4	A	T	17: 94,733,194		probably null	Het
Mpdz	A	G	4: 81,282,750	V1902A	probably benign	Het
Nfkbiz	C	T	16: 55,821,944	G37D	probably damaging	Het
Olfr1131	T	C	2: 87,628,904	V31A	probably benign	Het
Otogl	A	T	10: 107,806,802		probably null	Het
Pcdh1	T	C	18: 38,199,080	D429G	probably damaging	Het
Prelid2	A	T	18: 41,932,751	L73*	probably null	Het
Psg20	T	A	7: 18,681,177		probably null	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,283,677		probably benign	Het
Rab24	C	T	13: 55,320,307		probably null	Het
Rag1	T	G	2: 101,642,346	K817T	probably benign	Het
Rgl2	T	C	17: 33,931,739	V57A	probably benign	Het
Ric1	T	C	19: 29,533,259	M80T	probably damaging	Het
Sh3rf3	T	C	10: 59,007,061	I283T	probably damaging	Het
Skint2	C	A	4: 112,625,990	N197K	probably damaging	Het
Snapc4	A	G	2: 26,376,718	I126T	probably damaging	Het
Srcap	GTCCTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT	GTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT	7: 127,558,290		probably benign	Het
Svip	T	C	7: 52,003,413	K51R	probably benign	Het
Syndig1	T	A	2: 149,899,788	V98E	probably benign	Het
Tshz1	A	T	18: 84,015,392	M297K	possibly damaging	Het
Ttn	A	G	2: 76,919,350	V3785A	probably benign	Het
Usf3	T	C	16: 44,215,561	S135P	probably damaging	Het
Vmn2r10	A	T	5: 108,996,440	M548K	probably damaging	Het
Vmn2r92	T	C	17: 18,184,837	S748P	possibly damaging	Het
Zbtb39	A	G	10: 127,743,540	Y661C	probably damaging	Het
Zfp804b	A	G	5: 6,770,042	I1007T	probably benign	Het
Zscan4-ps2	A	G	7: 11,517,672	I212V	probably benign	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
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
R4933:Dagla	UTSW	19	10269715	critical splice donor site	probably null
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
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
X0021:Dagla	UTSW	19	10271164	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACAAGATGTGCCCGACTGTC -3'
(R):5'- AAGATGCCTACCACACCTGG -3'

Sequencing Primer
(F):5'- GAGGCATCGGCAGTAACTACTAC -3'
(R):5'- TGGTAGTAGCCCAGACTATTCCAG -3'

Posted On

2020-09-15