Mutagenetix > Incidental Mutation

Incidental Mutation 'R8943:Aldh1a2'

681103

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

068782-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8943 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71123071-71203525 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71169055 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 179 (V179A)

Ref Sequence

ENSEMBL: ENSMUSP00000034723 (fasta)

Gene Model

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

AlphaFold

Q62148

Predicted Effect

probably damaging
Transcript: ENSMUST00000034723
AA Change: V179A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000034723
Gene: ENSMUSG00000013584
AA Change: V179A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

98% (50/51)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	C	7: 41,275,667 (GRCm39)	S457P	probably damaging	Het
Aak1	A	G	6: 86,964,234 (GRCm39)	N945S	unknown	Het
Actr1a	C	A	19: 46,369,438 (GRCm39)	R192L	possibly damaging	Het
Adgrl2	T	A	3: 148,534,119 (GRCm39)	N1036I	probably damaging	Het
Ak5	A	G	3: 152,361,511 (GRCm39)	V137A	probably damaging	Het
Ap2b1	A	T	11: 83,237,579 (GRCm39)	I548F	probably damaging	Het
Arhgef10l	A	G	4: 140,292,550 (GRCm39)	Y352H	probably damaging	Het
Atad5	C	T	11: 79,986,524 (GRCm39)	T537M	possibly damaging	Het
Atoh7	A	G	10: 62,935,938 (GRCm39)	K2E	possibly damaging	Het
BC061237	A	G	14: 44,741,658 (GRCm39)	I134V	probably benign	Het
Cadm1	T	C	9: 47,701,136 (GRCm39)	I141T	probably damaging	Het
Capn10	T	C	1: 92,871,454 (GRCm39)	S351P	probably damaging	Het
Cct6b	T	C	11: 82,654,959 (GRCm39)		probably benign	Het
Cd19	T	C	7: 126,011,330 (GRCm39)	T284A	probably benign	Het
Cfap53	A	G	18: 74,432,253 (GRCm39)	Y47C	probably damaging	Het
Cldn18	T	C	9: 99,578,162 (GRCm39)	M194V	probably benign	Het
Dgkb	T	A	12: 38,652,777 (GRCm39)	Y721N	probably damaging	Het
Dmbt1	A	G	7: 130,721,372 (GRCm39)	Q1880R	possibly damaging	Het
Dock2	T	C	11: 34,599,646 (GRCm39)	N311S	possibly damaging	Het
Dpysl5	G	T	5: 30,935,375 (GRCm39)	M159I	probably benign	Het
Eif2b3	G	A	4: 116,901,778 (GRCm39)	G147E	probably damaging	Het
Fam193a	A	G	5: 34,597,796 (GRCm39)	D531G	probably benign	Het
Fndc3b	T	C	3: 27,555,329 (GRCm39)		probably benign	Het
Foxe3	C	A	4: 114,782,523 (GRCm39)	A230S	unknown	Het
Gm5591	A	T	7: 38,219,727 (GRCm39)	V382E	probably benign	Het
Gm7995	A	T	14: 42,132,228 (GRCm39)	N21I	probably damaging	Het
Ipo8	G	A	6: 148,676,547 (GRCm39)	P981S	probably benign	Het
Kcnh8	A	G	17: 53,104,486 (GRCm39)	D161G	probably benign	Het
Krt71	A	G	15: 101,645,180 (GRCm39)	I377T	possibly damaging	Het
Krt75	A	T	15: 101,476,767 (GRCm39)	M374K	probably benign	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lpcat1	A	G	13: 73,662,029 (GRCm39)	T409A	probably benign	Het
Lrch1	A	T	14: 75,032,808 (GRCm39)	I514K	probably benign	Het
Mc4r	A	C	18: 66,993,110 (GRCm39)	M1R	probably null	Het
Mthfd1l	A	T	10: 3,978,466 (GRCm39)	H442L	probably damaging	Het
Or5d38	T	A	2: 87,954,718 (GRCm39)	I204F	probably damaging	Het
Pdcd1lg2	T	C	19: 29,423,553 (GRCm39)	M199T	probably benign	Het
Pigg	G	A	5: 108,484,066 (GRCm39)	V438M	probably damaging	Het
Pira12	T	C	7: 3,898,365 (GRCm39)	E319G	probably benign	Het
Ppfibp1	T	A	6: 146,920,681 (GRCm39)		probably null	Het
Rbm15	T	A	3: 107,239,372 (GRCm39)	Y342F	possibly damaging	Het
Rhbdl1	A	T	17: 26,054,116 (GRCm39)	V278E	probably damaging	Het
Ryr3	T	C	2: 112,465,669 (GRCm39)	N4781S	probably damaging	Het
Scn7a	A	T	2: 66,525,206 (GRCm39)		silent	Het
Sfswap	A	G	5: 129,581,168 (GRCm39)	R114G	probably damaging	Het
Sohlh2	C	A	3: 55,104,282 (GRCm39)	A258D	possibly damaging	Het
Sstr4	T	A	2: 148,237,782 (GRCm39)	V131D	possibly damaging	Het
Tenm2	T	C	11: 36,834,861 (GRCm39)	T45A	probably damaging	Het
Tmem131l	A	T	3: 83,831,479 (GRCm39)	F818I	probably damaging	Het
Trappc6b	A	G	12: 59,097,149 (GRCm39)	F58L	probably damaging	Het
Vmn1r229	A	T	17: 21,035,418 (GRCm39)	H221L	possibly damaging	Het
Vmn1r33	T	A	6: 66,588,783 (GRCm39)	Y257F	probably damaging	Het
Wdfy3	T	C	5: 101,993,231 (GRCm39)		probably benign	Het
Zfp446	C	T	7: 12,713,564 (GRCm39)	Q177*	probably null	Het
Zup1	A	G	10: 33,795,301 (GRCm39)	*552Q	probably null	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
R3772:Aldh1a2	UTSW	9	71,160,202 (GRCm39)	missense	probably damaging	1.00
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
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'- TAAGGGCTGGCACTGTCTTG -3'
(R):5'- GAAAACTCTACTCATGGTAATAGGCC -3'

Sequencing Primer
(F):5'- GCTGGCACTGTCTTGCTTCATG -3'
(R):5'- CTCATGGTAATAGGCCTGAAACTCG -3'

Posted On

2021-08-31