Mutagenetix > Incidental Mutation

Incidental Mutation 'R6628:Dagla'

524946

Institutional Source

Beutler Lab

Gene Symbol

Dagla

Ensembl Gene

ENSMUSG00000035735

Gene Name

diacylglycerol lipase, alpha

Synonyms

Nsddr

MMRRC Submission

044750-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6628 (G1)

Quality Score

146.008

Status

Not validated

Chromosome

Chromosomal Location

10222629-10282241 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10240591 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 213 (D213G)

Ref Sequence

ENSEMBL: ENSMUSP00000046358 (fasta)

Gene Model

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

AlphaFold

Q6WQJ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000039327
AA Change: D213G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046358
Gene: ENSMUSG00000035735
AA Change: D213G

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	A	C	16: 85,592,713 (GRCm39)	M565R	probably benign	Het
Cd4	A	G	6: 124,856,431 (GRCm39)	L20P	unknown	Het
Chrm2	G	T	6: 36,500,292 (GRCm39)	V50F	probably damaging	Het
Clasp2	A	G	9: 113,725,788 (GRCm39)	T828A	probably damaging	Het
Clec4a4	A	G	6: 122,989,763 (GRCm39)	K135E	probably benign	Het
Clmn	T	C	12: 104,740,045 (GRCm39)	R961G	probably damaging	Het
Cyp2s1	T	C	7: 25,514,466 (GRCm39)	K64E	probably benign	Het
Dsp	A	T	13: 38,351,598 (GRCm39)	E139V	possibly damaging	Het
Fam168b	C	A	1: 34,875,822 (GRCm39)	G21V	probably damaging	Het
Gtf3c1	A	T	7: 125,267,246 (GRCm39)	D928E	probably benign	Het
Gulo	T	C	14: 66,241,619 (GRCm39)	K80E	probably benign	Het
H2-T9	T	C	17: 36,439,946 (GRCm39)	S63G	possibly damaging	Het
Kdm5d	A	G	Y: 900,525 (GRCm39)	Y190C	probably damaging	Homo
Kif27	A	T	13: 58,502,611 (GRCm39)	H22Q	probably damaging	Het
Kmt2c	T	C	5: 25,503,926 (GRCm39)	D383G	probably benign	Het
Lmtk2	A	G	5: 144,111,503 (GRCm39)	E741G	probably benign	Het
Mphosph9	G	T	5: 124,436,825 (GRCm39)	N506K	probably damaging	Het
Myo16	T	C	8: 10,620,638 (GRCm39)	S1674P	probably damaging	Het
Or5h26	T	C	16: 58,988,344 (GRCm39)	H54R	probably benign	Het
Or8j3c	T	G	2: 86,253,361 (GRCm39)	N220H	probably benign	Het
Pdcd10	A	G	3: 75,428,378 (GRCm39)	V82A	probably damaging	Het
Ptpn11	G	T	5: 121,272,892 (GRCm39)		probably null	Het
Pxdn	T	C	12: 30,049,917 (GRCm39)	L475P	probably damaging	Het
Senp6	A	G	9: 80,040,236 (GRCm39)	D781G	probably damaging	Het
Tbc1d5	T	C	17: 51,043,236 (GRCm39)	T751A	probably benign	Het
Tbx18	A	T	9: 87,597,588 (GRCm39)	Y315*	probably null	Het
Wrap53	T	C	11: 69,452,970 (GRCm39)	K446E	probably benign	Het
Wwp1	T	C	4: 19,661,963 (GRCm39)		probably null	Het

Other mutations in Dagla

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01484:Dagla	APN	19	10,225,884 (GRCm39)	missense	possibly damaging	0.51
IGL01625:Dagla	APN	19	10,228,566 (GRCm39)	splice site	probably benign
IGL01697:Dagla	APN	19	10,248,562 (GRCm39)	missense	probably benign	0.01
IGL01940:Dagla	APN	19	10,229,535 (GRCm39)	missense	probably benign
IGL02330:Dagla	APN	19	10,225,386 (GRCm39)	missense	probably damaging	1.00
blondie	UTSW	19	10,248,465 (GRCm39)	missense	probably damaging	1.00
dagwood	UTSW	19	10,247,079 (GRCm39)	critical splice donor site	probably null
PIT4480001:Dagla	UTSW	19	10,238,022 (GRCm39)	missense	probably benign	0.02
R0541:Dagla	UTSW	19	10,232,170 (GRCm39)	critical splice donor site	probably null
R0610:Dagla	UTSW	19	10,248,922 (GRCm39)	missense	probably damaging	1.00
R0638:Dagla	UTSW	19	10,232,247 (GRCm39)	missense	probably damaging	0.97
R0653:Dagla	UTSW	19	10,225,789 (GRCm39)	missense	probably damaging	1.00
R1675:Dagla	UTSW	19	10,246,687 (GRCm39)	missense	probably benign	0.00
R1822:Dagla	UTSW	19	10,240,550 (GRCm39)	missense	possibly damaging	0.94
R1830:Dagla	UTSW	19	10,248,378 (GRCm39)	missense	probably benign	0.44
R2303:Dagla	UTSW	19	10,229,467 (GRCm39)	missense	probably damaging	1.00
R2568:Dagla	UTSW	19	10,225,516 (GRCm39)	missense	probably benign
R2879:Dagla	UTSW	19	10,248,448 (GRCm39)	missense	possibly damaging	0.93
R2902:Dagla	UTSW	19	10,225,467 (GRCm39)	missense	probably damaging	0.99
R2939:Dagla	UTSW	19	10,233,728 (GRCm39)	missense	probably damaging	1.00
R3771:Dagla	UTSW	19	10,225,831 (GRCm39)	missense	possibly damaging	0.89
R4176:Dagla	UTSW	19	10,240,461 (GRCm39)	missense	probably damaging	1.00
R4255:Dagla	UTSW	19	10,234,316 (GRCm39)	nonsense	probably null
R4519:Dagla	UTSW	19	10,247,096 (GRCm39)	missense	probably damaging	1.00
R4584:Dagla	UTSW	19	10,248,373 (GRCm39)	missense	probably damaging	1.00
R4586:Dagla	UTSW	19	10,248,373 (GRCm39)	missense	probably damaging	1.00
R4614:Dagla	UTSW	19	10,225,641 (GRCm39)	missense	probably damaging	1.00
R4751:Dagla	UTSW	19	10,227,758 (GRCm39)	missense	probably benign	0.00
R4933:Dagla	UTSW	19	10,247,079 (GRCm39)	critical splice donor site	probably null
R5844:Dagla	UTSW	19	10,248,489 (GRCm39)	missense	probably damaging	1.00
R5858:Dagla	UTSW	19	10,232,332 (GRCm39)	intron	probably benign
R5958:Dagla	UTSW	19	10,225,788 (GRCm39)	missense	probably damaging	1.00
R6799:Dagla	UTSW	19	10,234,214 (GRCm39)	missense	probably damaging	1.00
R7072:Dagla	UTSW	19	10,233,659 (GRCm39)	critical splice donor site	probably null
R7253:Dagla	UTSW	19	10,239,945 (GRCm39)	splice site	probably null
R7451:Dagla	UTSW	19	10,230,719 (GRCm39)	missense	probably damaging	1.00
R7654:Dagla	UTSW	19	10,225,570 (GRCm39)	missense	probably benign	0.01
R7941:Dagla	UTSW	19	10,248,867 (GRCm39)	missense	probably damaging	0.99
R7980:Dagla	UTSW	19	10,229,406 (GRCm39)	missense	possibly damaging	0.82
R8293:Dagla	UTSW	19	10,229,401 (GRCm39)	critical splice donor site	probably null
R8327:Dagla	UTSW	19	10,228,451 (GRCm39)	missense	probably benign	0.11
R8442:Dagla	UTSW	19	10,248,883 (GRCm39)	missense	probably damaging	0.99
R8442:Dagla	UTSW	19	10,240,456 (GRCm39)	critical splice donor site	probably null
R8717:Dagla	UTSW	19	10,225,587 (GRCm39)	missense	probably benign	0.03
R8728:Dagla	UTSW	19	10,225,771 (GRCm39)	missense	probably damaging	1.00
R9053:Dagla	UTSW	19	10,246,615 (GRCm39)	missense	probably damaging	1.00
R9179:Dagla	UTSW	19	10,228,525 (GRCm39)	missense	possibly damaging	0.83
R9275:Dagla	UTSW	19	10,232,220 (GRCm39)	missense	probably damaging	1.00
R9387:Dagla	UTSW	19	10,248,465 (GRCm39)	missense	probably damaging	1.00
R9489:Dagla	UTSW	19	10,233,053 (GRCm39)	missense	probably damaging	1.00
R9498:Dagla	UTSW	19	10,232,218 (GRCm39)	nonsense	probably null
R9539:Dagla	UTSW	19	10,228,429 (GRCm39)	critical splice donor site	probably null
R9605:Dagla	UTSW	19	10,233,053 (GRCm39)	missense	probably damaging	1.00
X0021:Dagla	UTSW	19	10,248,528 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGATGAGCAGTAACAGCGGC -3'
(R):5'- CAAAAGAGTCTCCAGGTTCCTGC -3'

Sequencing Primer
(F):5'- CCACGGGGAAAGGATGCC -3'
(R):5'- GAGTCTCCAGGTTCCTGCCATAAG -3'

Posted On

2018-06-22