Mutagenetix > Incidental Mutation

Incidental Mutation 'R3772:Aldh1a2'

273365

Institutional Source

Beutler Lab

Gene Symbol

Aldh1a2

Ensembl Gene

ENSMUSG00000013584

Gene Name

aldehyde dehydrogenase family 1, subfamily A2

Synonyms

Aldh1a7, retinaldehyde dehydrogenase, Raldh2

MMRRC Submission

040748-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3772 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71123071-71203525 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71160202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 76 (D76G)

Ref Sequence

ENSEMBL: ENSMUSP00000034723 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034723]

AlphaFold

Q62148

Predicted Effect

probably damaging
Transcript: ENSMUST00000034723
AA Change: D76G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034723
Gene: ENSMUSG00000013584
AA Change: D76G

Domain	Start	End	E-Value	Type
Pfam:Aldedh	46	509	2.5e-187	PFAM

Meta Mutation Damage Score

0.9670

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (77/77)

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. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011]
PHENOTYPE: Homozygotes for null mutations are largely devoid of retinoic acid and die by embryonic day 10.5 with impaired hindbrain development, failure to turn, lack of limb buds, heart abnormalities, reduced otocysts and a truncated frontonasal region. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,159,720 (GRCm39)		probably benign	Het
Adgrl1	A	G	8: 84,649,633 (GRCm39)	N97S	possibly damaging	Het
Aldh3a1	A	G	11: 61,105,431 (GRCm39)	E179G	possibly damaging	Het
Ap1g1	A	G	8: 110,564,418 (GRCm39)	D324G	probably damaging	Het
Arfgap2	A	G	2: 91,095,711 (GRCm39)	T12A	probably benign	Het
Aurka	A	G	2: 172,208,880 (GRCm39)	L85P	probably benign	Het
Birc6	T	A	17: 74,925,424 (GRCm39)		probably benign	Het
Bmp7	A	T	2: 172,712,015 (GRCm39)	I403N	probably damaging	Het
Carns1	A	G	19: 4,220,915 (GRCm39)		probably benign	Het
Ccdc88c	G	A	12: 100,932,359 (GRCm39)		probably benign	Het
Ccl2	C	T	11: 81,927,784 (GRCm39)	A76V	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Clstn2	A	G	9: 97,464,615 (GRCm39)	I180T	probably damaging	Het
Col24a1	T	C	3: 145,251,041 (GRCm39)	L1680P	probably damaging	Het
Col4a6	C	A	X: 139,955,196 (GRCm39)	G1416C	probably damaging	Het
Ctnna2	T	G	6: 76,950,752 (GRCm39)	N573T	probably damaging	Het
Cts8	G	A	13: 61,398,715 (GRCm39)		probably benign	Het
Cxcl17	A	G	7: 25,099,754 (GRCm39)		probably benign	Het
Defb18	T	C	1: 18,306,845 (GRCm39)	H37R	possibly damaging	Het
Dis3l2	T	C	1: 86,782,130 (GRCm39)	I229T	probably benign	Het
Dysf	G	A	6: 84,129,333 (GRCm39)	S1474N	possibly damaging	Het
Elf1	T	C	14: 79,804,650 (GRCm39)	V105A	possibly damaging	Het
F13a1	T	C	13: 37,082,108 (GRCm39)	K532R	probably benign	Het
Fmn1	T	G	2: 113,412,463 (GRCm39)	S996A	probably damaging	Het
Focad	A	C	4: 88,254,398 (GRCm39)		probably benign	Het
Frmd4a	A	T	2: 4,595,433 (GRCm39)	E109D	probably damaging	Het
Frrs1	T	G	3: 116,672,036 (GRCm39)	S45A	possibly damaging	Het
Gm5422	T	A	10: 31,124,510 (GRCm39)		noncoding transcript	Het
Gm5866	T	C	5: 52,740,088 (GRCm39)		noncoding transcript	Het
Hmcn2	C	T	2: 31,250,908 (GRCm39)	T790M	probably damaging	Het
Iglon5	A	T	7: 43,130,037 (GRCm39)	Y42*	probably null	Het
Khdrbs2	C	T	1: 32,283,157 (GRCm39)	Q90*	probably null	Het
Krt74	T	C	15: 101,670,630 (GRCm39)		noncoding transcript	Het
Lamc2	T	A	1: 152,999,997 (GRCm39)	M1121L	probably benign	Het
Lrig1	A	G	6: 94,582,798 (GRCm39)	L1073P	probably benign	Het
Lrp5	G	A	19: 3,662,330 (GRCm39)	R173C	probably damaging	Het
Man2c1	C	A	9: 57,047,661 (GRCm39)		probably benign	Het
Megf10	G	A	18: 57,416,934 (GRCm39)	D768N	probably benign	Het
Mycbp2	T	C	14: 103,371,224 (GRCm39)	N4108S	possibly damaging	Het
Nid1	A	G	13: 13,651,003 (GRCm39)		probably benign	Het
Nnt	A	G	13: 119,533,488 (GRCm39)	V59A	probably damaging	Het
Nsd1	G	A	13: 55,394,486 (GRCm39)	V696I	probably benign	Het
Or1o4	T	C	17: 37,590,745 (GRCm39)	T189A	probably benign	Het
Pag1	G	A	3: 9,764,688 (GRCm39)	T155M	probably benign	Het
Pgam5	T	C	5: 110,413,459 (GRCm39)	H176R	probably damaging	Het
Pid1	T	C	1: 84,015,918 (GRCm39)	D149G	probably damaging	Het
Pkp3	G	A	7: 140,662,259 (GRCm39)	M1I	probably null	Het
Pld2	C	T	11: 70,434,949 (GRCm39)		probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ptprs	T	C	17: 56,735,978 (GRCm39)	T152A	possibly damaging	Het
Rab9b	T	A	X: 135,762,198 (GRCm39)	E67D	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rnf214	T	C	9: 45,777,932 (GRCm39)	M625V	possibly damaging	Het
Rwdd2a	A	C	9: 86,456,214 (GRCm39)	N130T	possibly damaging	Het
Scn9a	T	C	2: 66,313,992 (GRCm39)	N1909D	probably benign	Het
Septin10	A	T	10: 59,012,709 (GRCm39)	M303K	probably damaging	Het
Sez6l2	A	G	7: 126,558,375 (GRCm39)	E339G	probably damaging	Het
Sf3b1	C	A	1: 55,039,150 (GRCm39)		probably benign	Het
Shisal1	A	T	15: 84,290,886 (GRCm39)	Y120*	probably null	Het
Ska3	C	T	14: 58,047,534 (GRCm39)	V334I	probably benign	Het
Srebf2	A	G	15: 82,066,309 (GRCm39)	K579R	probably benign	Het
St18	A	T	1: 6,914,553 (GRCm39)	K799I	probably damaging	Het
Strada	C	T	11: 106,055,648 (GRCm39)	R333Q	probably damaging	Het
Stradb	A	T	1: 59,024,544 (GRCm39)	I64L	probably benign	Het
Sun1	A	G	5: 139,224,575 (GRCm39)		probably benign	Het
Tecta	T	C	9: 42,242,292 (GRCm39)	T2094A	probably damaging	Het
Tenm4	A	T	7: 96,344,087 (GRCm39)	R227W	probably damaging	Het
Tnk2	A	G	16: 32,498,640 (GRCm39)	D651G	probably damaging	Het
Trim43c	A	T	9: 88,729,810 (GRCm39)	D417V	probably damaging	Het
Tsc22d4	T	C	5: 137,757,495 (GRCm39)	L374P	possibly damaging	Het
Ttn	T	C	2: 76,601,711 (GRCm39)	T16872A	probably benign	Het
Ubr4	T	C	4: 139,180,011 (GRCm39)	V262A	possibly damaging	Het
Vmn2r60	A	T	7: 41,765,980 (GRCm39)	N29I	probably benign	Het
Xrn2	T	C	2: 146,903,207 (GRCm39)	V765A	probably benign	Het
Zbed4	C	T	15: 88,664,990 (GRCm39)	P353S	probably benign	Het
Zfp251	A	G	15: 76,737,836 (GRCm39)	I414T	possibly damaging	Het
Zfp426	A	T	9: 20,384,413 (GRCm39)		probably null	Het
Zwilch	A	T	9: 64,063,316 (GRCm39)	F286I	probably benign	Het

Other mutations in Aldh1a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00931:Aldh1a2	APN	9	71,123,251 (GRCm39)	splice site	probably benign
IGL01327:Aldh1a2	APN	9	71,193,248 (GRCm39)	missense	possibly damaging	0.95
IGL02293:Aldh1a2	APN	9	71,192,559 (GRCm39)	splice site	probably null
IGL03380:Aldh1a2	APN	9	71,162,399 (GRCm39)	nonsense	probably null
R0574:Aldh1a2	UTSW	9	71,188,990 (GRCm39)	critical splice donor site	probably null
R1189:Aldh1a2	UTSW	9	71,171,105 (GRCm39)	missense	possibly damaging	0.69
R1217:Aldh1a2	UTSW	9	71,188,964 (GRCm39)	missense	possibly damaging	0.94
R1270:Aldh1a2	UTSW	9	71,188,988 (GRCm39)	missense	probably benign	0.03
R1445:Aldh1a2	UTSW	9	71,192,492 (GRCm39)	missense	possibly damaging	0.82
R1717:Aldh1a2	UTSW	9	71,200,953 (GRCm39)	missense	probably damaging	0.99
R1737:Aldh1a2	UTSW	9	71,192,453 (GRCm39)	missense	possibly damaging	0.56
R1755:Aldh1a2	UTSW	9	71,169,023 (GRCm39)	nonsense	probably null
R1984:Aldh1a2	UTSW	9	71,160,334 (GRCm39)	missense	probably damaging	1.00
R2248:Aldh1a2	UTSW	9	71,123,144 (GRCm39)	missense	possibly damaging	0.90
R2407:Aldh1a2	UTSW	9	71,159,880 (GRCm39)	missense	probably damaging	0.99
R4945:Aldh1a2	UTSW	9	71,123,198 (GRCm39)	missense	probably benign	0.00
R5042:Aldh1a2	UTSW	9	71,192,286 (GRCm39)	missense	possibly damaging	0.69
R5066:Aldh1a2	UTSW	9	71,188,982 (GRCm39)	missense	possibly damaging	0.82
R5406:Aldh1a2	UTSW	9	71,162,403 (GRCm39)	missense	possibly damaging	0.93
R5425:Aldh1a2	UTSW	9	71,160,286 (GRCm39)	missense	probably benign	0.00
R5588:Aldh1a2	UTSW	9	71,190,732 (GRCm39)	missense	probably damaging	1.00
R6048:Aldh1a2	UTSW	9	71,169,049 (GRCm39)	missense	probably damaging	0.98
R6455:Aldh1a2	UTSW	9	71,160,196 (GRCm39)	critical splice acceptor site	probably null
R6642:Aldh1a2	UTSW	9	71,160,268 (GRCm39)	missense	probably damaging	1.00
R7253:Aldh1a2	UTSW	9	71,123,216 (GRCm39)	missense	probably benign
R7514:Aldh1a2	UTSW	9	71,192,245 (GRCm39)	missense	probably damaging	1.00
R7981:Aldh1a2	UTSW	9	71,171,102 (GRCm39)	missense	probably damaging	1.00
R8466:Aldh1a2	UTSW	9	71,160,205 (GRCm39)	missense	probably benign	0.03
R8943:Aldh1a2	UTSW	9	71,169,055 (GRCm39)	missense	probably damaging	1.00
R9001:Aldh1a2	UTSW	9	71,192,462 (GRCm39)	missense	probably damaging	1.00
R9700:Aldh1a2	UTSW	9	71,123,228 (GRCm39)	nonsense	probably null
RF018:Aldh1a2	UTSW	9	71,192,552 (GRCm39)	missense	probably damaging	1.00
Z1177:Aldh1a2	UTSW	9	71,190,804 (GRCm39)	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- AGATGCTTTGTAGAACAACCATCC -3'
(R):5'- ATACTTTCCAGCTGAGTGGTC -3'

Sequencing Primer
(F):5'- TGCTTTGTAGAACAACCATCCATAAC -3'
(R):5'- CTGAGTGGTCATTTTGGAGTAAAAAC -3'

Posted On

2015-03-25