Mutagenetix > Incidental Mutation

Incidental Mutation 'R1992:Aldh2'

223605

Institutional Source

Beutler Lab

Gene Symbol

Aldh2

Ensembl Gene

ENSMUSG00000029455

Gene Name

aldehyde dehydrogenase 2, mitochondrial

Synonyms

Ahd5, Ahd-5

MMRRC Submission

040003-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1992 (G1)

Quality Score

186

Status

Not validated

Chromosome

Chromosomal Location

121704090-121731887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121714026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 207 (V207E)

Ref Sequence

ENSEMBL: ENSMUSP00000142906 (fasta)

Gene Model

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

AlphaFold

P47738

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031411
AA Change: V207E

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031411
Gene: ENSMUSG00000029455
AA Change: V207E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000129753
AA Change: V207E

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142906
Gene: ENSMUSG00000029455
AA Change: V207E

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 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

noncoding transcript
Transcript: ENSMUST00000196694

Predicted Effect

possibly damaging
Transcript: ENSMUST00000199369
AA Change: V106E

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143261
Gene: ENSMUSG00000029455
AA Change: V106E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000200541

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.5%

Validation Efficiency

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: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	T	C	1: 138,781,380 (GRCm39)	T90A	probably damaging	Het
A930011G23Rik	T	C	5: 99,381,784 (GRCm39)	D326G	possibly damaging	Het
Abcc2	A	T	19: 43,795,581 (GRCm39)	I446F	probably damaging	Het
Adam34l	T	C	8: 44,080,176 (GRCm39)	K16R	probably benign	Het
Adamts14	A	G	10: 61,034,439 (GRCm39)	Y1150H	probably benign	Het
Adgrl2	A	G	3: 148,522,880 (GRCm39)	I217T	possibly damaging	Het
Afap1l1	A	T	18: 61,874,842 (GRCm39)	Y446*	probably null	Het
Aimp2	G	A	5: 143,843,548 (GRCm39)	A14V	probably damaging	Het
Akap8	G	A	17: 32,535,586 (GRCm39)	H143Y	probably damaging	Het
Aoc1l2	T	A	6: 48,907,703 (GRCm39)	H234Q	probably damaging	Het
Armc3	T	C	2: 19,297,953 (GRCm39)	Y575H	probably damaging	Het
Arpp21	T	C	9: 111,986,861 (GRCm39)	E230G	probably damaging	Het
Arrdc3	G	A	13: 81,031,808 (GRCm39)	D14N	probably damaging	Het
Atn1	A	G	6: 124,722,291 (GRCm39)		probably benign	Het
Atxn7l1	G	A	12: 33,408,743 (GRCm39)	D302N	probably damaging	Het
Bbs1	T	A	19: 4,941,736 (GRCm39)	H518L	probably benign	Het
Bltp1	A	T	3: 37,054,181 (GRCm39)	H3100L	probably benign	Het
Bmpr1a	C	A	14: 34,147,050 (GRCm39)	G241C	probably damaging	Het
Cacna1b	G	A	2: 24,622,318 (GRCm39)	P222L	probably damaging	Het
Calcrl	T	C	2: 84,200,855 (GRCm39)	Y63C	probably damaging	Het
Cand2	A	G	6: 115,762,093 (GRCm39)	H173R	possibly damaging	Het
Cap2	T	A	13: 46,791,357 (GRCm39)	Y175N	possibly damaging	Het
Card14	A	T	11: 119,212,647 (GRCm39)		probably null	Het
Cd3d	T	A	9: 44,896,299 (GRCm39)	Y29*	probably null	Het
Cd4	A	G	6: 124,844,651 (GRCm39)	V378A	possibly damaging	Het
Cluh	A	T	11: 74,550,828 (GRCm39)	H318L	probably damaging	Het
Clvs1	T	A	4: 9,281,899 (GRCm39)	D114E	probably benign	Het
Cnot4	T	A	6: 35,000,344 (GRCm39)	T548S	probably benign	Het
Col18a1	T	C	10: 76,916,988 (GRCm39)	I114V	unknown	Het
Cr2	G	A	1: 194,836,458 (GRCm39)	P1278S	possibly damaging	Het
Crebbp	A	T	16: 3,946,561 (GRCm39)		probably null	Het
Dnah7a	T	G	1: 53,621,835 (GRCm39)	K1097Q	possibly damaging	Het
Doc2a	T	A	7: 126,450,979 (GRCm39)		probably null	Het
Dpp10	A	T	1: 123,832,833 (GRCm39)	V48E	probably null	Het
Dsg2	A	G	18: 20,734,530 (GRCm39)	K836R	probably damaging	Het
Egr2	T	C	10: 67,375,857 (GRCm39)	V164A	probably damaging	Het
Erbin	A	T	13: 103,970,221 (GRCm39)	S1132T	probably benign	Het
Espn	T	A	4: 152,213,012 (GRCm39)		probably null	Het
Fam83b	A	G	9: 76,399,304 (GRCm39)	S600P	probably benign	Het
Fanca	A	T	8: 124,024,551 (GRCm39)	N425K	possibly damaging	Het
Flot2	C	T	11: 77,949,445 (GRCm39)	L294F	probably damaging	Het
Frs2	A	G	10: 116,910,459 (GRCm39)	V301A	probably benign	Het
Fv1	T	A	4: 147,953,618 (GRCm39)	N61K	possibly damaging	Het
Fxr2	A	G	11: 69,540,659 (GRCm39)	E339G	possibly damaging	Het
Gck	T	C	11: 5,856,515 (GRCm39)	Y214C	probably damaging	Het
Golga3	C	G	5: 110,340,839 (GRCm39)	T551R	probably damaging	Het
Gorab	A	G	1: 163,224,625 (GRCm39)	S59P	probably damaging	Het
Gsdme	C	T	6: 50,185,102 (GRCm39)	V451M	probably damaging	Het
H2-T13	A	C	17: 36,391,938 (GRCm39)	I216S	probably damaging	Het
Herc4	T	A	10: 63,081,743 (GRCm39)	V22E	possibly damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hoxa2	A	T	6: 52,141,576 (GRCm39)	S17T	probably damaging	Het
Hs3st5	A	G	10: 36,708,882 (GRCm39)	Y139C	probably damaging	Het
Ism1	G	A	2: 139,587,937 (GRCm39)	V221I	probably benign	Het
Kalrn	T	G	16: 33,796,108 (GRCm39)	L1222F	probably damaging	Het
Katnip	A	G	7: 125,419,261 (GRCm39)	N476S	probably benign	Het
Kdm4c	A	G	4: 74,261,631 (GRCm39)	D602G	possibly damaging	Het
Ktn1	A	G	14: 47,932,978 (GRCm39)	K711E	probably damaging	Het
Lce1k	A	T	3: 92,714,125 (GRCm39)	C20S	unknown	Het
Macf1	A	G	4: 123,350,488 (GRCm39)	S3792P	probably damaging	Het
Maml3	C	T	3: 51,598,178 (GRCm39)	M189I	probably benign	Het
Mcc	C	A	18: 44,624,382 (GRCm39)	E213*	probably null	Het
Mep1a	T	G	17: 43,813,573 (GRCm39)	I13L	probably benign	Het
Mkrn2	G	T	6: 115,586,562 (GRCm39)	C16F	probably damaging	Het
Mlh1	C	T	9: 111,057,631 (GRCm39)	A727T	probably damaging	Het
Muc21	A	T	17: 35,929,600 (GRCm39)	S1529T	probably benign	Het
Naa16	T	C	14: 79,593,931 (GRCm39)	Y344C	probably damaging	Het
Nebl	T	A	2: 17,457,321 (GRCm39)	I80F	probably damaging	Het
Nlrc4	T	A	17: 74,752,628 (GRCm39)	Y585F	probably benign	Het
Nrcam	A	G	12: 44,587,753 (GRCm39)	K149R	probably damaging	Het
Nufip1	T	A	14: 76,372,287 (GRCm39)	I467N	probably damaging	Het
Nup133	A	G	8: 124,632,960 (GRCm39)	I1057T	possibly damaging	Het
Obscn	A	T	11: 58,886,653 (GRCm39)		probably benign	Het
Or10ag52	T	A	2: 87,043,588 (GRCm39)	C117*	probably null	Het
Or5k1	A	G	16: 58,617,309 (GRCm39)	V300A	probably benign	Het
Or5k14	A	C	16: 58,692,874 (GRCm39)	I213R	probably benign	Het
Pi4k2a	A	T	19: 42,104,377 (GRCm39)	I380F	probably damaging	Het
Piezo2	A	T	18: 63,207,733 (GRCm39)	L1426Q	probably null	Het
Pik3cg	A	T	12: 32,254,024 (GRCm39)	D654E	possibly damaging	Het
Poli	G	T	18: 70,642,058 (GRCm39)	P714Q	probably damaging	Het
Polr3f	A	G	2: 144,378,230 (GRCm39)	N201D	probably benign	Het
Prorp	A	G	12: 55,384,991 (GRCm39)	D89G	probably damaging	Het
Ptprz1	A	T	6: 22,959,747 (GRCm39)	K81N	probably benign	Het
Rbm19	T	C	5: 120,271,948 (GRCm39)		probably null	Het
Sec24a	C	T	11: 51,627,190 (GRCm39)	V241I	probably benign	Het
Sgk3	A	G	1: 9,950,567 (GRCm39)	T160A	possibly damaging	Het
Slc1a4	A	G	11: 20,254,375 (GRCm39)	I497T	probably benign	Het
Slc26a9	A	T	1: 131,690,532 (GRCm39)	D512V	probably damaging	Het
Slc43a3	C	T	2: 84,788,084 (GRCm39)	R489C	probably damaging	Het
Slc5a12	T	A	2: 110,452,089 (GRCm39)	F327L	probably benign	Het
Slitrk3	A	G	3: 72,957,104 (GRCm39)	V556A	possibly damaging	Het
Spata6l	A	G	19: 28,926,024 (GRCm39)	F130L	probably damaging	Het
Spib	T	C	7: 44,178,281 (GRCm39)	E180G	probably benign	Het
Spint2	T	A	7: 28,958,833 (GRCm39)	N128Y	probably damaging	Het
Spx	G	A	6: 142,364,245 (GRCm39)	G102E	probably benign	Het
Spz1	T	A	13: 92,712,166 (GRCm39)	E103D	possibly damaging	Het
Sstr2	T	C	11: 113,515,495 (GRCm39)	I138T	probably benign	Het
Sytl3	T	A	17: 7,000,448 (GRCm39)	I206N	possibly damaging	Het
Tcaf2	T	C	6: 42,606,791 (GRCm39)	T388A	probably benign	Het
Tdpoz8	G	T	3: 92,981,344 (GRCm39)	A121S	probably benign	Het
Thap12	T	C	7: 98,365,572 (GRCm39)	V580A	possibly damaging	Het
Tlr5	T	A	1: 182,801,912 (GRCm39)	D405E	probably damaging	Het
Tnxb	T	C	17: 34,890,878 (GRCm39)	V407A	probably damaging	Het
Tpx2	T	A	2: 152,732,544 (GRCm39)	M606K	probably benign	Het
Trim43a	T	G	9: 88,466,312 (GRCm39)	L211R	probably damaging	Het
Trim46	A	T	3: 89,145,008 (GRCm39)	Y489N	probably damaging	Het
Ttc28	C	T	5: 111,424,188 (GRCm39)	S1485L	probably benign	Het
Ttll8	T	C	15: 88,798,654 (GRCm39)	T694A	probably benign	Het
Txnl1	T	C	18: 63,812,585 (GRCm39)	T70A	probably benign	Het
Ube3a	C	T	7: 58,953,535 (GRCm39)	A823V	probably damaging	Het
Ubqln5	C	A	7: 103,778,741 (GRCm39)	V28F	probably damaging	Het
Ulk1	T	A	5: 110,935,017 (GRCm39)	Q972L	probably damaging	Het
Unc93b1	T	C	19: 3,994,062 (GRCm39)	Y398H	probably benign	Het
Usp1	A	G	4: 98,822,531 (GRCm39)	D615G	probably benign	Het
Utp15	A	G	13: 98,387,420 (GRCm39)	C385R	probably benign	Het
Vmn2r91	T	A	17: 18,356,142 (GRCm39)	V603D	probably damaging	Het
Whamm	C	T	7: 81,241,519 (GRCm39)	R277*	probably null	Het
Wnt8a	A	G	18: 34,677,937 (GRCm39)	D115G	probably damaging	Het
Yjefn3	A	T	8: 70,341,645 (GRCm39)		probably null	Het
Ywhab	A	T	2: 163,853,807 (GRCm39)	I95F	probably damaging	Het
Zfp143	C	T	7: 109,660,489 (GRCm39)		probably benign	Het
Zfp607b	C	G	7: 27,401,949 (GRCm39)	T135R	possibly damaging	Het
Zfp970	A	G	2: 177,166,663 (GRCm39)	Q79R	possibly 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
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'- CCAAGTTCCCCTCTGTAAGGTAC -3'
(R):5'- CAGCTACCAGTCTCATCCAGTG -3'

Sequencing Primer
(F):5'- GAGGACAGATTTCTAGGACAGATTTC -3'
(R):5'- GTCTCATCCAGTGGCCCAAC -3'

Posted On

2014-08-25