Mutagenetix > Incidental Mutation

Incidental Mutation 'R6294:Aldh2'

508594

Institutional Source

Beutler Lab

Gene Symbol

Aldh2

Ensembl Gene

ENSMUSG00000029455

Gene Name

aldehyde dehydrogenase 2, mitochondrial

Synonyms

Ahd5, Ahd-5

MMRRC Submission

044406-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6294 (G1)

Quality Score

80.0075

Status

Validated

Chromosome

Chromosomal Location

121704090-121731887 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 121710879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 8 (Q8*)

Gene Model

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

AlphaFold

P47738

Predicted Effect

probably null
Transcript: ENSMUST00000031411
AA Change: Q317*

SMART Domains

Protein: ENSMUSP00000031411
Gene: ENSMUSG00000029455
AA Change: Q317*

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
AA Change: Q317*

SMART Domains

Protein: ENSMUSP00000142906
Gene: ENSMUSG00000029455
AA Change: Q317*

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

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

probably null
Transcript: ENSMUST00000200541
AA Change: Q8*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

99% (71/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,631,440 (GRCm39)	H579L	probably benign	Het
Ankdd1a	G	T	9: 65,427,446 (GRCm39)	H10Q	probably benign	Het
Arpp21	A	G	9: 111,956,520 (GRCm39)	F453L	probably damaging	Het
Birc6	C	A	17: 74,996,252 (GRCm39)	D4461E	probably benign	Het
Cacna1b	A	T	2: 24,609,069 (GRCm39)	S411T	possibly damaging	Het
Camk2g	A	G	14: 20,815,017 (GRCm39)	I203T	probably damaging	Het
Cat	A	T	2: 103,290,640 (GRCm39)	C425S	probably benign	Het
Ccdc34	A	G	2: 109,848,496 (GRCm39)	D95G	probably benign	Het
Clca4b	T	C	3: 144,630,946 (GRCm39)	S305G	probably null	Het
Cul7	T	C	17: 46,974,074 (GRCm39)	I1453T	probably benign	Het
Dlg1	T	A	16: 31,656,942 (GRCm39)	I612N	probably damaging	Het
Dync2h1	T	G	9: 7,084,986 (GRCm39)	K561T	probably benign	Het
Erbin	T	C	13: 103,993,564 (GRCm39)	T359A	probably benign	Het
Far2	T	A	6: 148,058,980 (GRCm39)	L222Q	probably damaging	Het
Fbxw17	A	G	13: 50,577,839 (GRCm39)	E114G	probably benign	Het
Fryl	A	T	5: 73,349,102 (GRCm39)		probably benign	Het
Ggn	A	G	7: 28,873,273 (GRCm39)	D666G	possibly damaging	Het
Hal	G	A	10: 93,350,005 (GRCm39)		probably null	Het
Htt	A	G	5: 34,979,170 (GRCm39)	D851G	probably benign	Het
Ighv14-2	A	T	12: 113,958,218 (GRCm39)	D74E	probably benign	Het
Igkv5-43	G	A	6: 69,800,426 (GRCm39)	S87L	probably damaging	Het
Klhl29	A	T	12: 5,133,995 (GRCm39)	F720I	probably damaging	Het
Klk1b8	T	A	7: 43,602,196 (GRCm39)	Y43N	probably damaging	Het
Krtap20-1	T	A	16: 88,880,989 (GRCm39)	Y7N	unknown	Het
Lama4	T	A	10: 38,951,466 (GRCm39)	F1070L	probably damaging	Het
Map4	A	G	9: 109,831,814 (GRCm39)	E98G	possibly damaging	Het
Mbtd1	C	T	11: 93,823,058 (GRCm39)	H493Y	possibly damaging	Het
Mki67	A	G	7: 135,306,319 (GRCm39)	M581T	probably benign	Het
Mtss2	T	A	8: 111,453,960 (GRCm39)	N43K	possibly damaging	Het
Mylk3	T	A	8: 86,077,012 (GRCm39)	I475F	probably damaging	Het
Nat14	C	T	7: 4,927,073 (GRCm39)	R82*	probably null	Het
Nckap1	T	C	2: 80,371,858 (GRCm39)	N324S	probably benign	Het
Nemp1	C	T	10: 127,530,391 (GRCm39)	T281M	possibly damaging	Het
Nrg3	A	T	14: 38,119,196 (GRCm39)	H425Q	probably benign	Het
Omd	T	A	13: 49,743,467 (GRCm39)	N172K	probably damaging	Het
Or10c1	T	C	17: 37,522,517 (GRCm39)	T76A	probably benign	Het
Or12d12	T	A	17: 37,610,444 (GRCm39)	T290S	probably benign	Het
Or4f62	A	G	2: 111,986,364 (GRCm39)	I23V	probably benign	Het
Or52a33	A	G	7: 103,288,798 (GRCm39)	M183T	probably damaging	Het
Or52r1c	A	T	7: 102,734,874 (GRCm39)	I45F	probably benign	Het
Or5b123	T	C	19: 13,596,730 (GRCm39)	V25A	probably benign	Het
Orc1	T	C	4: 108,447,867 (GRCm39)	I38T	probably benign	Het
Oxct1	A	G	15: 4,172,304 (GRCm39)	T457A	possibly damaging	Het
Pcdh17	A	T	14: 84,715,108 (GRCm39)	K924N	probably benign	Het
Pkhd1l1	A	T	15: 44,433,424 (GRCm39)	I3435F	probably damaging	Het
Psg20	C	A	7: 18,416,604 (GRCm39)	V171F	probably damaging	Het
Rab11fip2	A	T	19: 59,925,531 (GRCm39)	S87T	probably damaging	Het
Rabgap1l	T	C	1: 160,059,419 (GRCm39)	T237A	probably benign	Het
Rasgrp1	A	T	2: 117,122,273 (GRCm39)	Y372*	probably null	Het
Rell1	G	T	5: 64,097,048 (GRCm39)		probably benign	Het
Rps14	A	G	18: 60,910,033 (GRCm39)	K61E	possibly damaging	Het
Rtl6	A	G	15: 84,441,321 (GRCm39)	V25A	possibly damaging	Het
Ryr2	G	T	13: 11,894,382 (GRCm39)	S185R	probably damaging	Het
Slc10a2	C	T	8: 5,141,621 (GRCm39)		probably null	Het
Slc14a1	T	A	18: 78,153,273 (GRCm39)		probably null	Het
Smad2	A	T	18: 76,422,233 (GRCm39)	N215I	probably benign	Het
Smchd1	A	T	17: 71,677,922 (GRCm39)	N1473K	probably benign	Het
Spag9	A	G	11: 93,984,311 (GRCm39)		probably null	Het
Stk31	A	C	6: 49,394,278 (GRCm39)	R213S	probably benign	Het
Tmod4	A	T	3: 95,035,617 (GRCm39)	Q255L	probably benign	Het
Tnpo1	T	A	13: 99,027,282 (GRCm39)	Y3F	probably benign	Het
Tom1l1	A	C	11: 90,552,587 (GRCm39)	Y206*	probably null	Het
Tulp2	A	G	7: 45,164,116 (GRCm39)	K36E	probably damaging	Het
Tulp4	C	T	17: 6,252,094 (GRCm39)	R282C	probably damaging	Het
Unc5b	A	T	10: 60,614,110 (GRCm39)	N246K	possibly damaging	Het
Ush2a	C	G	1: 188,268,567 (GRCm39)	S1674R	possibly damaging	Het
Vmn1r224	T	C	17: 20,640,083 (GRCm39)	I220T	probably benign	Het
Vmn1r7	G	C	6: 57,001,404 (GRCm39)	N285K	probably benign	Het
Vmn2r83	C	T	10: 79,313,688 (GRCm39)	P99S	probably damaging	Het
Zbtb38	A	G	9: 96,569,282 (GRCm39)	F601L	probably benign	Het
Zc3h3	A	T	15: 75,681,417 (GRCm39)	S555T	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
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
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'- TTCTGCTTTGGCACACTGGC -3'
(R):5'- CAAGGGAAGAGGGTTCTGTTTC -3'

Sequencing Primer
(F):5'- ACACTGGCTTTGGACTCCAG -3'
(R):5'- CTGTTTCATTCTGGCCAGGAATTG -3'

Posted On

2018-03-15