Mutagenetix > Incidental Mutation

Incidental Mutation 'R9241:Aldh2'

700737

Institutional Source

Beutler Lab

Gene Symbol

Aldh2

Ensembl Gene

ENSMUSG00000029455

Gene Name

aldehyde dehydrogenase 2, mitochondrial

Synonyms

Ahd5, Ahd-5

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9241 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121704090-121731887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121710220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 372 (I372V)

Ref Sequence

ENSEMBL: ENSMUSP00000031411 (fasta)

Gene Model

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

AlphaFold

P47738

Predicted Effect

probably benign
Transcript: ENSMUST00000031411
AA Change: I372V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000031411
Gene: ENSMUSG00000029455
AA Change: I372V

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 benign
Transcript: ENSMUST00000129753
AA Change: I372V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000142906
Gene: ENSMUSG00000029455
AA Change: I372V

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

Predicted Effect

probably benign
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 benign
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

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (51/52)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	A	G	8: 117,697,937 (GRCm39)	L390P	probably damaging	Het
AL732309.1	T	A	2: 25,135,919 (GRCm39)	E98D	possibly damaging	Het
Amph	G	T	13: 19,278,972 (GRCm39)	R149L	probably damaging	Het
Ano6	T	C	15: 95,688,887 (GRCm39)	V8A	probably benign	Het
Aox4	T	A	1: 58,291,345 (GRCm39)	V821E	probably damaging	Het
Baz2b	T	A	2: 59,743,993 (GRCm39)	Q1504L	probably benign	Het
Cdcp1	C	A	9: 123,014,301 (GRCm39)	G158W	probably damaging	Het
Cryge	T	G	1: 65,088,018 (GRCm39)	D97A	possibly damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Dyrk1b	A	G	7: 27,886,058 (GRCm39)	T594A	probably benign	Het
Emilin3	T	C	2: 160,750,177 (GRCm39)	D477G	possibly damaging	Het
Fat2	T	C	11: 55,147,566 (GRCm39)	H3892R	probably benign	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Gm9922	A	T	14: 101,967,220 (GRCm39)	S11T	unknown	Het
Hcfc2	T	C	10: 82,568,485 (GRCm39)	V43A	probably benign	Het
Hcn1	T	C	13: 117,793,249 (GRCm39)	F167S	probably benign	Het
Jag1	T	C	2: 136,926,507 (GRCm39)	I1012M	probably damaging	Het
Kash5	A	G	7: 44,833,313 (GRCm39)	I603T	probably benign	Het
Lepr	G	T	4: 101,671,788 (GRCm39)	M937I	probably benign	Het
Macf1	T	C	4: 123,271,952 (GRCm39)	D6532G	probably damaging	Het
Mapk13	A	T	17: 28,990,187 (GRCm39)	D102V	probably damaging	Het
Mapt	A	T	11: 104,189,797 (GRCm39)	T272S	probably benign	Het
Mfap3	A	G	11: 57,420,672 (GRCm39)	T218A	probably damaging	Het
Mki67	A	T	7: 135,297,653 (GRCm39)	H2460Q	possibly damaging	Het
Nalcn	G	T	14: 123,809,429 (GRCm39)	P241Q	probably benign	Het
Nup50	A	G	15: 84,822,611 (GRCm39)	T378A	possibly damaging	Het
Oprl1	C	T	2: 181,360,405 (GRCm39)	R154C	probably damaging	Het
Or2n1e	A	G	17: 38,585,781 (GRCm39)	M40V	probably benign	Het
Pcdha8	C	T	18: 37,127,008 (GRCm39)	R497W	probably damaging	Het
Pik3c2a	A	G	7: 116,017,115 (GRCm39)	V214A	probably benign	Het
Plekha5	T	C	6: 140,525,204 (GRCm39)		probably null	Het
Pole3	A	G	4: 62,442,845 (GRCm39)		probably benign	Het
Prkn	A	T	17: 11,456,382 (GRCm39)	I69L	probably benign	Het
Psd3	G	T	8: 68,415,967 (GRCm39)	N357K	probably benign	Het
Psme4	A	T	11: 30,815,576 (GRCm39)	D1696V	probably damaging	Het
Reln	C	T	5: 22,174,067 (GRCm39)	R2012Q	probably damaging	Het
Saxo2	T	C	7: 82,284,250 (GRCm39)	T203A	probably benign	Het
Scgb1a1	T	C	19: 9,065,293 (GRCm39)		probably benign	Het
Selplg	T	A	5: 113,957,647 (GRCm39)	N220Y	possibly damaging	Het
Septin9	C	A	11: 117,109,724 (GRCm39)	R15S	probably benign	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Smarca4	T	G	9: 21,550,604 (GRCm39)	S446A	possibly damaging	Het
Smc1b	T	C	15: 84,976,209 (GRCm39)	N833D	probably benign	Het
Son	T	A	16: 91,454,122 (GRCm39)	D956E	probably damaging	Het
Sorl1	A	T	9: 41,885,420 (GRCm39)	Y2060*	probably null	Het
Tesmin	T	C	19: 3,439,010 (GRCm39)	F21L	probably benign	Het
Tmem200c	G	T	17: 69,144,161 (GRCm39)		probably benign	Het
Tnk2	A	C	16: 32,488,916 (GRCm39)	D252A	probably damaging	Het
Tpcn1	C	T	5: 120,691,558 (GRCm39)	V299I	probably benign	Het
Trpv1	A	G	11: 73,151,182 (GRCm39)	N790S	probably benign	Het
Zfhx4	C	T	3: 5,308,697 (GRCm39)	T641I	probably damaging	Het
Zfp563	A	T	17: 33,321,520 (GRCm39)	Q45L	probably benign	Het
Zswim9	A	T	7: 13,003,360 (GRCm39)	D163E	probably damaging	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
R1697:Aldh2	UTSW	5	121,716,404 (GRCm39)	critical splice donor site	probably null
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
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'- TCCTACCAAAAGCAGCAGGG -3'
(R):5'- TTTAAAGAAACACCGGGGTATGAC -3'

Sequencing Primer
(F):5'- CAAAAGCAGCAGGGCCCAG -3'
(R):5'- ATGACGTGCCTTGCCTAG -3'

Posted On

2022-02-07