Mutagenetix > Incidental Mutation

Incidental Mutation 'R4793:Aldh2'

368759

Institutional Source

Beutler Lab

Gene Symbol

Aldh2

Ensembl Gene

ENSMUSG00000029455

Gene Name

aldehyde dehydrogenase 2, mitochondrial

Synonyms

Ahd5, Ahd-5

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4793 (G1)

Quality Score

207

Status

Validated

Chromosome

Chromosomal Location

121704090-121731887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121707042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 168 (S168G)

Gene Model

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

AlphaFold

P47738

Predicted Effect

probably benign
Transcript: ENSMUST00000031411
AA Change: S492G

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000031411
Gene: ENSMUSG00000029455
AA Change: S492G

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

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

noncoding transcript
Transcript: ENSMUST00000196694

Predicted Effect

possibly damaging
Transcript: ENSMUST00000199369
AA Change: S202G

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143261
Gene: ENSMUSG00000029455
AA Change: S202G

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 damaging
Transcript: ENSMUST00000200541
AA Change: S168G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Meta Mutation Damage Score

0.1418

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

100% (91/91)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,082,544 (GRCm39)	E1143V	probably benign	Het
Abi2	T	A	1: 60,448,963 (GRCm39)	M1K	probably null	Het
Acp2	T	C	2: 91,037,134 (GRCm39)	F205L	probably benign	Het
Adam17	T	C	12: 21,397,396 (GRCm39)	N219D	probably benign	Het
Arhgap15	A	T	2: 44,032,353 (GRCm39)	E312D	probably damaging	Het
Calm5	T	C	13: 3,904,401 (GRCm39)	S32P	probably benign	Het
Capn12	G	A	7: 28,592,094 (GRCm39)	D671N	probably benign	Het
Ccdc73	A	G	2: 104,848,127 (GRCm39)		probably null	Het
Cdc20	T	A	4: 118,294,261 (GRCm39)	I20F	probably benign	Het
Cdh23	A	T	10: 60,167,129 (GRCm39)	I1841N	probably damaging	Het
Cftr	T	C	6: 18,226,087 (GRCm39)	V345A	probably damaging	Het
Col15a1	T	C	4: 47,262,997 (GRCm39)	S550P	possibly damaging	Het
Col4a4	A	G	1: 82,516,820 (GRCm39)	Y133H	unknown	Het
Csmd1	A	G	8: 16,138,277 (GRCm39)	S1592P	probably damaging	Het
Cts6	T	A	13: 61,349,626 (GRCm39)	M56L	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dock5	A	G	14: 68,037,803 (GRCm39)	S947P	probably benign	Het
Dpysl2	G	T	14: 67,052,498 (GRCm39)	A339D	possibly damaging	Het
Ebf2	A	G	14: 67,647,531 (GRCm39)	D360G	probably damaging	Het
Ensa	T	C	3: 95,532,489 (GRCm39)		probably null	Het
Fap	C	A	2: 62,374,713 (GRCm39)	V229F	probably damaging	Het
Fbn1	C	A	2: 125,163,155 (GRCm39)	G2116*	probably null	Het
Frmd4b	A	T	6: 97,272,822 (GRCm39)	S857T	probably damaging	Het
Fsip2	T	A	2: 82,818,044 (GRCm39)	Y4592*	probably null	Het
Fubp1	T	A	3: 151,928,966 (GRCm39)	Y135N	possibly damaging	Het
Gdap2	T	C	3: 100,078,234 (GRCm39)	L66P	probably damaging	Het
Gm10257	T	C	13: 101,083,305 (GRCm39)		noncoding transcript	Het
Gm1758	A	T	16: 14,325,036 (GRCm39)		noncoding transcript	Het
Gna13	T	C	11: 109,254,455 (GRCm39)		probably benign	Het
H2bc13	T	C	13: 21,900,088 (GRCm39)	S76G	probably benign	Het
Heatr1	T	C	13: 12,446,718 (GRCm39)	I1689T	probably benign	Het
Hephl1	A	G	9: 15,009,286 (GRCm39)	I102T	probably benign	Het
Hltf	T	G	3: 20,118,114 (GRCm39)	Y121D	possibly damaging	Het
Hspg2	T	C	4: 137,256,784 (GRCm39)	V1509A	possibly damaging	Het
Ifitm5	G	T	7: 140,530,077 (GRCm39)	R16S	probably benign	Het
Il1rap	A	C	16: 26,513,984 (GRCm39)	D239A	probably benign	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kcna6	T	C	6: 126,715,519 (GRCm39)	I457V	probably damaging	Het
Kctd17	T	A	15: 78,317,224 (GRCm39)	L47Q	probably damaging	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lrrc63	A	G	14: 75,363,601 (GRCm39)	S177P	possibly damaging	Het
Lrriq1	T	C	10: 103,006,327 (GRCm39)	D1266G	probably benign	Het
Map3k2	G	T	18: 32,361,203 (GRCm39)	M554I	probably damaging	Het
Mst1r	T	A	9: 107,797,124 (GRCm39)	V1331E	probably damaging	Het
Musk	T	C	4: 58,373,400 (GRCm39)	I775T	probably damaging	Het
Mybl2	A	G	2: 162,916,683 (GRCm39)	K7E	probably damaging	Het
Nf1	T	C	11: 79,338,398 (GRCm39)	S1137P	probably damaging	Het
Nlrp5	A	G	7: 23,117,055 (GRCm39)	I260V	probably damaging	Het
Or13c7	A	T	4: 43,854,323 (GRCm39)	N5Y	probably benign	Het
Or9g4	A	C	2: 85,504,842 (GRCm39)	Y218D	probably damaging	Het
Or9s23	G	T	1: 92,501,207 (GRCm39)	A105S	possibly damaging	Het
Pabpc1l	C	T	2: 163,869,542 (GRCm39)	A114V	possibly damaging	Het
Plac8l1	T	A	18: 42,311,973 (GRCm39)	I149F	possibly damaging	Het
Pou6f1	T	A	15: 100,476,293 (GRCm39)	N531I	probably damaging	Het
Prdm10	A	G	9: 31,264,701 (GRCm39)	Y712C	probably damaging	Het
Ptbp3	T	C	4: 59,514,297 (GRCm39)	T43A	possibly damaging	Het
Ptpn13	T	C	5: 103,730,644 (GRCm39)		probably null	Het
Rnf135	T	C	11: 80,087,775 (GRCm39)		probably null	Het
Rusf1	A	T	7: 127,887,374 (GRCm39)		probably benign	Het
Serpinb3d	A	G	1: 107,005,951 (GRCm39)	L379P	probably damaging	Het
Sh2d6	T	A	6: 72,494,581 (GRCm39)	T124S	probably benign	Het
Slc26a5	G	A	5: 22,042,992 (GRCm39)	P153S	probably damaging	Het
Slc5a7	A	G	17: 54,588,822 (GRCm39)	F275S	possibly damaging	Het
Snx14	A	G	9: 88,276,495 (GRCm39)	S606P	probably damaging	Het
Sphkap	A	T	1: 83,255,805 (GRCm39)	I648K	possibly damaging	Het
Spon2	T	C	5: 33,371,904 (GRCm39)	T301A	probably damaging	Het
Srpra	C	T	9: 35,124,447 (GRCm39)	T48I	probably benign	Het
Taar9	G	A	10: 23,985,408 (GRCm39)	P9S	probably benign	Het
Tacc1	A	T	8: 25,672,405 (GRCm39)	S274R	possibly damaging	Het
Tc2n	A	G	12: 101,617,376 (GRCm39)	S348P	possibly damaging	Het
Timd2	G	T	11: 46,578,008 (GRCm39)	T41K	probably damaging	Het
Tmem132a	T	A	19: 10,842,857 (GRCm39)	E206V	probably damaging	Het
Tmt1a3	A	G	15: 100,232,889 (GRCm39)	M27V	probably benign	Het
Tpi1	A	T	6: 124,789,544 (GRCm39)		probably benign	Het
Traf5	T	G	1: 191,729,765 (GRCm39)	T429P	probably benign	Het
Trav4-3	A	G	14: 53,836,615 (GRCm39)	S27G	possibly damaging	Het
Tubd1	T	C	11: 86,457,895 (GRCm39)	M462T	probably benign	Het
Ube4a	T	C	9: 44,860,120 (GRCm39)	D314G	probably damaging	Het
Utp25	T	A	1: 192,796,116 (GRCm39)	Q50L	probably null	Het
Vmn2r58	G	T	7: 41,514,495 (GRCm39)	T158K	probably damaging	Het
Vmn2r68	C	A	7: 84,883,648 (GRCm39)	M152I	probably benign	Het
Vmn2r91	A	G	17: 18,325,658 (GRCm39)	E92G	probably damaging	Het
Wdr20rt	T	C	12: 65,273,395 (GRCm39)	V113A	probably damaging	Het
Zfp729a	T	C	13: 67,768,546 (GRCm39)	H561R	probably damaging	Het
Zfp804a	T	A	2: 82,066,186 (GRCm39)	D52E	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
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'- GCCTGTTGTGGGTAAGATCC -3'
(R):5'- CATCTGCACAGACAAGGATGAC -3'

Sequencing Primer
(F):5'- GATCCTAGAGACTGTATCTGACCC -3'
(R):5'- TGACAGGGGAGTGGTCC -3'

Posted On

2016-02-04