Mutagenetix > Incidental Mutation

Incidental Mutation 'R9523:Abhd2'

719016

Institutional Source

Beutler Lab

Gene Symbol

Abhd2

Ensembl Gene

ENSMUSG00000039202

Gene Name

abhydrolase domain containing 2

Synonyms

2210009N18Rik, LABH2

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9523 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78923002-79015257 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78998020 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 184 (E184G)

Ref Sequence

ENSEMBL: ENSMUSP00000038361 (fasta)

Gene Model

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

AlphaFold

Q9QXM0

Predicted Effect

probably damaging
Transcript: ENSMUST00000037315
AA Change: E184G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038361
Gene: ENSMUSG00000039202
AA Change: E184G

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	G	5: 107,687,057 (GRCm39)	T15A	possibly damaging	Het
2010315B03Rik	G	T	9: 124,056,652 (GRCm39)	Q91K		Het
2210408I21Rik	A	G	13: 77,407,988 (GRCm39)	N419S	possibly damaging	Het
Adgrg3	T	C	8: 95,766,186 (GRCm39)	I339T	probably benign	Het
Adgrv1	C	T	13: 81,567,178 (GRCm39)	A5332T		Het
Akap13	T	C	7: 75,293,193 (GRCm39)	V42A		Het
Akap6	A	G	12: 52,842,672 (GRCm39)	T7A	probably benign	Het
Apob	A	T	12: 8,052,069 (GRCm39)	D1170V	probably damaging	Het
Atad1	A	G	19: 32,684,323 (GRCm39)	I25T	possibly damaging	Het
Atp4b	G	T	8: 13,436,746 (GRCm39)	N255K	probably damaging	Het
Atr	C	T	9: 95,792,610 (GRCm39)	A1644V	possibly damaging	Het
Bpnt1	T	A	1: 185,077,584 (GRCm39)	C100S	probably damaging	Het
C1rl	C	T	6: 124,484,054 (GRCm39)	L203F	probably benign	Het
Clasp2	T	A	9: 113,705,372 (GRCm39)	V576D	probably damaging	Het
Col8a2	A	G	4: 126,205,273 (GRCm39)	T428A	unknown	Het
Copg2	T	A	6: 30,749,505 (GRCm39)		probably null	Het
Cpn2	C	T	16: 30,078,759 (GRCm39)	R314H	possibly damaging	Het
Cpt2	G	A	4: 107,764,354 (GRCm39)	A470V	probably damaging	Het
Cyp2a4	C	T	7: 26,011,688 (GRCm39)	T303I	probably damaging	Het
Ddx42	A	G	11: 106,132,606 (GRCm39)	D543G	probably benign	Het
Dip2a	T	C	10: 76,112,438 (GRCm39)	T1087A	probably damaging	Het
Fam219b	T	C	9: 57,444,919 (GRCm39)	F6L	probably benign	Het
Fsip2	G	T	2: 82,807,972 (GRCm39)	L1430F	probably damaging	Het
Fstl4	A	G	11: 53,075,466 (GRCm39)	I573V	probably benign	Het
Ggnbp2	A	T	11: 84,745,188 (GRCm39)	S182R	probably benign	Het
Glud1	A	G	14: 34,061,931 (GRCm39)	T484A	probably benign	Het
Gm19410	A	G	8: 36,257,608 (GRCm39)	N682S	probably benign	Het
Gnao1	T	C	8: 94,622,861 (GRCm39)	I55T		Het
H2bc15	G	T	13: 21,938,305 (GRCm39)	A5S	unknown	Het
Hcn4	C	T	9: 58,766,809 (GRCm39)	S790L	unknown	Het
Ighv3-4	T	C	12: 114,217,393 (GRCm39)	E66G	probably damaging	Het
Igkv6-23	A	G	6: 70,237,526 (GRCm39)	S72P	probably damaging	Het
Kdm7a	A	C	6: 39,147,767 (GRCm39)	Y213D	probably damaging	Het
Klk15	T	G	7: 43,587,770 (GRCm39)	M66R	possibly damaging	Het
Lce1d	T	A	3: 92,593,363 (GRCm39)	T17S	unknown	Het
Lipt1	T	C	1: 37,914,534 (GRCm39)	Y197H	probably damaging	Het
Lrp1b	A	T	2: 41,660,978 (GRCm39)	D157E		Het
Ltbp1	A	G	17: 75,697,498 (GRCm39)	T1697A	probably benign	Het
Marchf6	T	C	15: 31,498,845 (GRCm39)	T151A	probably benign	Het
Muc5b	G	A	7: 141,396,116 (GRCm39)	R124H	unknown	Het
Myo5b	A	G	18: 74,861,968 (GRCm39)	N1320S	possibly damaging	Het
Myt1l	T	A	12: 29,877,611 (GRCm39)	S421T	unknown	Het
Nav1	A	T	1: 135,379,929 (GRCm39)	M1531K	unknown	Het
Nlrp4e	A	G	7: 23,054,636 (GRCm39)	D930G	probably benign	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Or51a6	A	G	7: 102,604,464 (GRCm39)	S115P	probably damaging	Het
Or5b112	G	T	19: 13,319,848 (GRCm39)	C242F	probably damaging	Het
Or5b120	A	T	19: 13,479,712 (GRCm39)	M2L	probably benign	Het
Or5d47	A	T	2: 87,804,945 (GRCm39)	Y21*	probably null	Het
Or6k14	A	T	1: 173,927,608 (GRCm39)	I195F	probably damaging	Het
Or7g30	G	A	9: 19,352,580 (GRCm39)	V124I	possibly damaging	Het
Oxct2b	A	T	4: 123,011,483 (GRCm39)	I468F	probably damaging	Het
Pcdhgb7	T	A	18: 37,886,636 (GRCm39)	L602Q	probably damaging	Het
Prrc2c	A	G	1: 162,525,298 (GRCm39)	V1862A	unknown	Het
Rad54l2	C	T	9: 106,573,151 (GRCm39)	R1110H	probably damaging	Het
Rere	T	A	4: 150,703,636 (GRCm39)	H180Q	probably damaging	Het
Rtl1	C	T	12: 109,561,113 (GRCm39)	R242Q	unknown	Het
Sfxn4	T	C	19: 60,845,807 (GRCm39)	D63G	probably damaging	Het
Strn	C	T	17: 78,967,575 (GRCm39)	A579T	probably benign	Het
Stxbp3	A	G	3: 108,747,756 (GRCm39)	L10P	probably damaging	Het
Swi5	T	C	2: 32,170,739 (GRCm39)	M95V	possibly damaging	Het
Tln2	T	C	9: 67,165,766 (GRCm39)	Y1027C	probably damaging	Het
Tmem65	A	G	15: 58,662,002 (GRCm39)		probably null	Het
Tox4	C	T	14: 52,529,166 (GRCm39)	P376S	probably benign	Het
Tsg101	C	T	7: 46,542,308 (GRCm39)	G215D	possibly damaging	Het
Utp18	A	G	11: 93,768,833 (GRCm39)	S226P	probably damaging	Het
Vipr2	T	C	12: 116,093,788 (GRCm39)	S174P	probably damaging	Het
Vmn2r24	G	T	6: 123,763,950 (GRCm39)	V276F	possibly damaging	Het
Wdr26	T	C	1: 181,013,620 (GRCm39)	R418G	probably benign	Het
Zfp235	T	C	7: 23,840,381 (GRCm39)	Y267H	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
R8424:Abhd2	UTSW	7	78,946,885 (GRCm39)	missense	probably damaging	1.00
R8437:Abhd2	UTSW	7	78,998,178 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCTGCTCACAAACACTGCTAATG -3'
(R):5'- TGGATGACTCACCTCAGTGC -3'

Sequencing Primer
(F):5'- TCTAATTCAAGGGAGCATCTCTC -3'
(R):5'- ACCTCAGTGCGCTGTACC -3'

Posted On

2022-07-18