Mutagenetix > Incidental Mutation

Incidental Mutation 'R1697:Aldh2'

192316

Institutional Source

Beutler Lab

Gene Symbol

Aldh2

Ensembl Gene

ENSMUSG00000029455

Gene Name

aldehyde dehydrogenase 2, mitochondrial

Synonyms

Ahd5, Ahd-5

MMRRC Submission

039730-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1697 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121704090-121731887 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 121716404 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143261 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031411] [ENSMUST00000129753] [ENSMUST00000152945] [ENSMUST00000199369]

AlphaFold

P47738

Predicted Effect

probably null
Transcript: ENSMUST00000031411

SMART Domains

Protein: ENSMUSP00000031411
Gene: ENSMUSG00000029455

Domain	Start	End	E-Value	Type
low complexity region	10	26	N/A	INTRINSIC
Pfam:Aldedh	47	510	2.9e-185	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000129753

SMART Domains

Protein: ENSMUSP00000142906
Gene: ENSMUSG00000029455

Domain	Start	End	E-Value	Type
low complexity region	10	26	N/A	INTRINSIC
Pfam:Aldedh	47	471	1e-170	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133033

Predicted Effect

probably null
Transcript: ENSMUST00000152945

SMART Domains

Protein: ENSMUSP00000123545
Gene: ENSMUSG00000029455

Domain	Start	End	E-Value	Type
low complexity region	10	26	N/A	INTRINSIC
Pfam:Aldedh	47	185	1.8e-38	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000199369

SMART Domains

Protein: ENSMUSP00000143261
Gene: ENSMUSG00000029455

Domain	Start	End	E-Value	Type
Pfam:Aldedh	1	129	4.2e-43	PFAM
Pfam:Aldedh	125	220	3.6e-36	PFAM

Meta Mutation Damage Score

0.9487

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of aldehyde dehydrogenase, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of East Asians have the cytosolic isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among East Asians than among Caucasians could be related to the absence of a catalytically active form of the mitochondrial isozyme. The increased exposure to acetaldehyde in individuals with the catalytically inactive form may also confer greater susceptibility to many types of cancer. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Nov 2016]
PHENOTYPE: Homozygous mutation of this gene results in the absence of oxidation activity in the mitochondria. Mice homozygous for a different allele exhibit decreased litter size. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 60,992,928 (GRCm39)	D250E	probably damaging	Het
4930571K23Rik	A	G	7: 124,968,201 (GRCm39)		noncoding transcript	Het
Acsl3	T	C	1: 78,683,114 (GRCm39)		probably benign	Het
Acsl6	C	A	11: 54,220,792 (GRCm39)	T244K	probably damaging	Het
Adam26b	T	A	8: 43,974,000 (GRCm39)	N334I	probably damaging	Het
Adgrl4	C	T	3: 151,223,248 (GRCm39)	T608M	probably damaging	Het
Alms1	A	G	6: 85,599,436 (GRCm39)	T1890A	possibly damaging	Het
Capn7	C	T	14: 31,082,117 (GRCm39)	T441M	probably damaging	Het
Cd9	A	T	6: 125,441,367 (GRCm39)	C85S	probably damaging	Het
Chrm3	T	C	13: 9,928,794 (GRCm39)	T81A	probably damaging	Het
Ctif	A	G	18: 75,757,376 (GRCm39)		probably benign	Het
Dcc	T	A	18: 71,503,808 (GRCm39)	D950V	probably damaging	Het
Eif4g1	T	C	16: 20,498,530 (GRCm39)	V422A	probably damaging	Het
Enthd1	A	G	15: 80,337,124 (GRCm39)	S437P	probably damaging	Het
Fads1	A	G	19: 10,171,464 (GRCm39)		probably benign	Het
Fat3	T	A	9: 15,856,176 (GRCm39)	I3869L	probably benign	Het
Fbxw5	T	A	2: 25,392,473 (GRCm39)	V85E	possibly damaging	Het
Fcgbpl1	T	A	7: 27,853,772 (GRCm39)	C1579S	probably damaging	Het
Fem1b	T	C	9: 62,704,456 (GRCm39)	D268G	possibly damaging	Het
Focad	T	C	4: 88,327,225 (GRCm39)	L1772P	probably damaging	Het
Gtf3a	C	A	5: 146,888,723 (GRCm39)	Q145K	possibly damaging	Het
Hacl1	T	C	14: 31,342,957 (GRCm39)		probably null	Het
Herc2	T	A	7: 55,803,653 (GRCm39)	F2229L	probably benign	Het
Hs3st4	A	T	7: 123,996,080 (GRCm39)	I249L	probably benign	Het
Iqsec1	A	T	6: 90,786,752 (GRCm39)	Y7*	probably null	Het
Irag2	A	G	6: 145,083,341 (GRCm39)		probably benign	Het
Klk1b1	T	A	7: 43,619,750 (GRCm39)	M103K	probably benign	Het
Krt5	A	G	15: 101,619,020 (GRCm39)	V287A	probably benign	Het
Lgals12	T	A	19: 7,581,530 (GRCm39)	Q59L	possibly damaging	Het
Loxl4	A	G	19: 42,593,379 (GRCm39)	V264A	possibly damaging	Het
Lrp1b	T	C	2: 40,712,695 (GRCm39)	D3099G	probably damaging	Het
Mical3	G	A	6: 120,984,369 (GRCm39)	T169I	possibly damaging	Het
Muc21	A	C	17: 35,931,540 (GRCm39)		probably benign	Het
Myef2l	G	A	3: 10,154,613 (GRCm39)	V461I	possibly damaging	Het
Myh7b	A	C	2: 155,462,054 (GRCm39)	S317R	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nsd1	A	T	13: 55,361,872 (GRCm39)		probably null	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or1j17	C	T	2: 36,578,259 (GRCm39)	L82F	probably damaging	Het
Or2t49	A	T	11: 58,392,502 (GRCm39)	S293R	probably damaging	Het
Or5h22	A	G	16: 58,895,270 (GRCm39)	Y58H	probably damaging	Het
Or5i1	T	A	2: 87,612,929 (GRCm39)	I15N	possibly damaging	Het
Or6c2b	T	C	10: 128,947,737 (GRCm39)	T186A	probably benign	Het
Pcnx2	A	G	8: 126,577,087 (GRCm39)	Y982H	probably damaging	Het
Pias3	T	C	3: 96,609,541 (GRCm39)	L312P	probably damaging	Het
Plekhm1	G	A	11: 103,267,710 (GRCm39)	P754S	probably damaging	Het
Ppp2r5c	T	A	12: 110,512,057 (GRCm39)	L145*	probably null	Het
Ppp2r5c	T	A	12: 110,527,906 (GRCm39)		probably benign	Het
Pramel29	A	C	4: 143,935,162 (GRCm39)	I193S	probably damaging	Het
Proser3	T	C	7: 30,239,446 (GRCm39)	M553V	probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Smurf2	A	T	11: 106,715,514 (GRCm39)	D664E	possibly damaging	Het
Spag9	G	A	11: 93,887,391 (GRCm39)	A99T	probably benign	Het
Stim1	T	G	7: 102,003,713 (GRCm39)	C49G	probably damaging	Het
Stk32c	T	C	7: 138,701,740 (GRCm39)	I238V	probably benign	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Tfb2m	T	A	1: 179,372,464 (GRCm39)	E133V	probably null	Het
Tmem209	A	T	6: 30,497,867 (GRCm39)	C143S	probably benign	Het
Tnr	T	G	1: 159,679,600 (GRCm39)	N191K	probably benign	Het
Vars1	C	T	17: 35,217,198 (GRCm39)	A419T	probably benign	Het
Vmn2r111	T	C	17: 22,767,041 (GRCm39)	S819G	probably benign	Het
Wls	T	C	3: 159,602,995 (GRCm39)	V136A	probably benign	Het
Ybx2	C	T	11: 69,830,887 (GRCm39)	S217L	probably benign	Het
Zfp82	T	C	7: 29,756,779 (GRCm39)	D37G	probably benign	Het

Other mutations in Aldh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01813:Aldh2	APN	5	121,710,136 (GRCm39)	missense	probably benign	0.00
IGL02145:Aldh2	APN	5	121,706,056 (GRCm39)	makesense	probably null
IGL02352:Aldh2	APN	5	121,713,960 (GRCm39)	missense	probably null	1.00
IGL02359:Aldh2	APN	5	121,713,960 (GRCm39)	missense	probably null	1.00
IGL02473:Aldh2	APN	5	121,710,141 (GRCm39)	missense	probably damaging	1.00
IGL02818:Aldh2	APN	5	121,713,188 (GRCm39)	missense	probably benign
IGL03182:Aldh2	APN	5	121,718,787 (GRCm39)	unclassified	probably benign
IGL03324:Aldh2	APN	5	121,713,188 (GRCm39)	missense	probably benign
Flushed	UTSW	5	121,710,879 (GRCm39)	nonsense	probably null
R0595:Aldh2	UTSW	5	121,711,564 (GRCm39)	missense	probably damaging	0.97
R0595:Aldh2	UTSW	5	121,711,563 (GRCm39)	missense	probably damaging	0.99
R1992:Aldh2	UTSW	5	121,714,026 (GRCm39)	missense	possibly damaging	0.93
R2174:Aldh2	UTSW	5	121,710,731 (GRCm39)	intron	probably benign
R4786:Aldh2	UTSW	5	121,710,887 (GRCm39)	missense	probably benign	0.21
R4793:Aldh2	UTSW	5	121,707,042 (GRCm39)	missense	probably damaging	0.99
R5408:Aldh2	UTSW	5	121,708,620 (GRCm39)	intron	probably benign
R5934:Aldh2	UTSW	5	121,717,678 (GRCm39)	missense	probably benign
R6266:Aldh2	UTSW	5	121,706,997 (GRCm39)	missense	probably damaging	0.97
R6294:Aldh2	UTSW	5	121,710,879 (GRCm39)	nonsense	probably null
R6792:Aldh2	UTSW	5	121,718,712 (GRCm39)	missense	probably damaging	0.98
R7659:Aldh2	UTSW	5	121,707,023 (GRCm39)	missense	probably damaging	1.00
R9070:Aldh2	UTSW	5	121,707,032 (GRCm39)	missense	probably damaging	1.00
R9241:Aldh2	UTSW	5	121,710,220 (GRCm39)	missense	probably benign	0.00
X0009:Aldh2	UTSW	5	121,710,837 (GRCm39)	missense	possibly damaging	0.94
X0027:Aldh2	UTSW	5	121,731,525 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAACAACTGTCGAGCCTTTAGCC -3'
(R):5'- TACCGGAGACAATCAGTGGTCCAG -3'

Sequencing Primer
(F):5'- ATTTCGTTCCGAGGACCACAG -3'
(R):5'- TCAGTGGTCCAGAGGAGACTC -3'

Posted On

2014-05-14