Mutagenetix > Incidental Mutation

Incidental Mutation 'R8424:Abhd2'

653356

Institutional Source

Beutler Lab

Gene Symbol

Abhd2

Ensembl Gene

ENSMUSG00000039202

Gene Name

abhydrolase domain containing 2

Synonyms

2210009N18Rik, LABH2

MMRRC Submission

067818-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R8424 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78923002-79015257 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 78946885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 42 (P42S)

Ref Sequence

ENSEMBL: ENSMUSP00000038361 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037315]

AlphaFold

Q9QXM0

Predicted Effect

probably damaging
Transcript: ENSMUST00000037315
AA Change: P42S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000038361
Gene: ENSMUSG00000039202
AA Change: P42S

Domain	Start	End	E-Value	Type
low complexity region	17	30	N/A	INTRINSIC
Pfam:Hydrolase_4	124	362	1.1e-10	PFAM
Pfam:Abhydrolase_1	126	383	2.3e-30	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a wide range of enzymes. The encoded protein is an acylglycerol lipase that catalyzes the hydrolysis of endocannabinoid arachidonoylglycerol from the cell membrane. This leads to activation of the sperm calcium channel CatSper, which results in sperm activation. Alternative splicing of this gene results in two transcript variants encoding the same protein. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a gene trapped allele are overtly but exhibit enhanced migratory ability of cultured smooth muscle cells, and significant intimal hyperplasia after cuff placement. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	G	2: 155,416,538 (GRCm39)	T694A	unknown	Het
Adar	C	T	3: 89,643,301 (GRCm39)	P394L	probably damaging	Het
Alx4	A	G	2: 93,507,814 (GRCm39)	M370V	probably benign	Het
Bag6	T	A	17: 35,365,830 (GRCm39)	L1089Q	probably damaging	Het
Bms1	T	C	6: 118,365,721 (GRCm39)	Y1155C	probably benign	Het
Cbl	G	A	9: 44,064,151 (GRCm39)	T795I	possibly damaging	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 114,903,257 (GRCm39)		probably benign	Het
Cdc5l	C	A	17: 45,726,526 (GRCm39)	A349S	probably benign	Het
Cdh5	G	A	8: 104,856,003 (GRCm39)	R312H	probably benign	Het
Cdk5rap1	T	C	2: 154,187,932 (GRCm39)	T465A	probably damaging	Het
Cep135	C	T	5: 76,741,906 (GRCm39)	T114I	possibly damaging	Het
Csrp1	T	C	1: 135,667,188 (GRCm39)	V17A	probably damaging	Het
Cutal	T	C	2: 34,777,804 (GRCm39)	S105P	probably benign	Het
Dgki	C	A	6: 36,827,850 (GRCm39)	V1016L	probably benign	Het
Dnmt1	T	C	9: 20,829,836 (GRCm39)	N746S	probably benign	Het
Ep400	A	T	5: 110,841,144 (GRCm39)	V1796E	unknown	Het
Fam83a	T	A	15: 57,873,046 (GRCm39)	S292T	possibly damaging	Het
H2ac4	A	G	13: 23,935,267 (GRCm39)	Y51C	probably damaging	Het
Keap1	C	A	9: 21,142,086 (GRCm39)	R596L	probably benign	Het
Klhl5	A	C	5: 65,320,305 (GRCm39)	T620P	probably benign	Het
Lbhd1	T	A	19: 8,861,341 (GRCm39)	D16E	possibly damaging	Het
Nadk2	T	C	15: 9,083,414 (GRCm39)	V110A	possibly damaging	Het
Ncbp1	A	T	4: 46,144,839 (GRCm39)	H30L	probably benign	Het
Or5ac21	A	T	16: 59,123,772 (GRCm39)	L85F	possibly damaging	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Pmp22	G	T	11: 63,023,902 (GRCm39)		probably benign	Het
Rc3h1	C	T	1: 160,793,342 (GRCm39)	L1076F	probably damaging	Het
Ryr3	T	C	2: 112,672,239 (GRCm39)	I1431V	possibly damaging	Het
S100a7a	T	A	3: 90,562,868 (GRCm39)	H18Q	probably damaging	Het
Scd2	G	T	19: 44,289,743 (GRCm39)	C246F	probably benign	Het
Serpina1c	T	C	12: 103,862,296 (GRCm39)	T340A	possibly damaging	Het
Setd5	A	G	6: 113,126,644 (GRCm39)	E1227G	probably benign	Het
Sh3yl1	G	A	12: 30,974,862 (GRCm39)	R71H	probably damaging	Het
Spry2	A	G	14: 106,130,836 (GRCm39)	S117P	probably damaging	Het
Srcap	T	C	7: 127,141,560 (GRCm39)	V1780A	probably benign	Het
Sting1	A	C	18: 35,872,223 (GRCm39)	I93S	probably benign	Het
Tas2r130	T	G	6: 131,607,790 (GRCm39)	T2P	probably benign	Het
Tiam2	T	A	17: 3,566,316 (GRCm39)	F1454I	probably damaging	Het
Tiam2	T	C	17: 3,566,317 (GRCm39)	F1454S	probably damaging	Het
Tnpo3	A	G	6: 29,555,205 (GRCm39)	S793P	probably benign	Het
Ttc28	G	A	5: 111,381,207 (GRCm39)	D1240N	probably benign	Het
Ubap2l	A	T	3: 89,928,338 (GRCm39)	D535E	probably damaging	Het
Ube2h	A	G	6: 30,260,940 (GRCm39)	S65P	probably damaging	Het
Vmn1r203	T	C	13: 22,709,004 (GRCm39)	S262P	probably damaging	Het
Wfdc8	A	G	2: 164,445,078 (GRCm39)	F179S	probably benign	Het
Wnk1	T	C	6: 119,911,388 (GRCm39)	T2153A	unknown	Het
Zfhx3	G	T	8: 109,583,385 (GRCm39)	G1084V	probably damaging	Het
Zfp273	A	G	13: 67,970,471 (GRCm39)	N40D	probably benign	Het
Zfp352	C	T	4: 90,112,480 (GRCm39)	P207S	possibly damaging	Het
Zfp952	T	A	17: 33,222,191 (GRCm39)	F223L	probably benign	Het

Other mutations in Abhd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01506:Abhd2	APN	7	78,975,200 (GRCm39)	missense	possibly damaging	0.91
IGL03067:Abhd2	APN	7	79,009,782 (GRCm39)	missense	probably benign
Redeemer	UTSW	7	79,003,775 (GRCm39)	missense	probably benign	0.02
R0363:Abhd2	UTSW	7	79,000,561 (GRCm39)	missense	possibly damaging	0.81
R1587:Abhd2	UTSW	7	79,003,758 (GRCm39)	missense	probably benign	0.01
R1921:Abhd2	UTSW	7	78,998,104 (GRCm39)	missense	possibly damaging	0.83
R3108:Abhd2	UTSW	7	78,973,333 (GRCm39)	missense	probably benign	0.01
R4374:Abhd2	UTSW	7	78,973,278 (GRCm39)	missense	probably benign	0.00
R4621:Abhd2	UTSW	7	78,975,235 (GRCm39)	missense	probably damaging	1.00
R4763:Abhd2	UTSW	7	79,009,879 (GRCm39)	missense	probably benign	0.00
R5217:Abhd2	UTSW	7	78,973,378 (GRCm39)	missense	probably benign
R5599:Abhd2	UTSW	7	78,946,746 (GRCm39)	splice site	probably null
R6972:Abhd2	UTSW	7	79,003,775 (GRCm39)	missense	probably benign	0.02
R7617:Abhd2	UTSW	7	78,998,032 (GRCm39)	missense	probably benign	0.10
R7957:Abhd2	UTSW	7	78,975,194 (GRCm39)	missense	probably benign	0.42
R8062:Abhd2	UTSW	7	78,975,338 (GRCm39)	missense	possibly damaging	0.81
R8309:Abhd2	UTSW	7	78,998,095 (GRCm39)	missense	probably damaging	1.00
R8437:Abhd2	UTSW	7	78,998,178 (GRCm39)	missense	probably damaging	1.00
R9523:Abhd2	UTSW	7	78,998,020 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CATGCCTCTGCCATGAGATG -3'
(R):5'- GCTGAGACTAGAACCATGGACAAC -3'

Sequencing Primer
(F):5'- CATGAGATGGGCTCCACC -3'
(R):5'- TGGACAACAAGCGAGTCCTC -3'

Posted On

2020-10-20