Mutagenetix > Incidental Mutation

Incidental Mutation 'R6048:Aldh1a2'

483396

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

044216-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6048 (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 71169049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 177 (I177T)

Ref Sequence

ENSEMBL: ENSMUSP00000034723 (fasta)

Gene Model

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

AlphaFold

Q62148

Predicted Effect

probably damaging
Transcript: ENSMUST00000034723
AA Change: I177T

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034723
Gene: ENSMUSG00000013584
AA Change: I177T

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

Meta Mutation Damage Score

0.9292

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

98% (60/61)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aopep	T	A	13: 63,388,139 (GRCm39)	F39L	probably damaging	Het
Arl4c	A	G	1: 88,629,350 (GRCm39)	S13P	possibly damaging	Het
Bst1	G	T	5: 43,976,306 (GRCm39)		probably benign	Het
Carmil3	G	A	14: 55,741,302 (GRCm39)	R1029Q	probably benign	Het
Cflar	A	G	1: 58,780,202 (GRCm39)	T269A	probably benign	Het
Clcnka	T	A	4: 141,121,798 (GRCm39)	Y236F	probably damaging	Het
Clmp	T	A	9: 40,682,405 (GRCm39)	I63N	probably damaging	Het
Cln6	T	C	9: 62,751,908 (GRCm39)	L44P	probably damaging	Het
Col5a3	C	T	9: 20,718,915 (GRCm39)	A280T	unknown	Het
Dact2	A	G	17: 14,417,567 (GRCm39)	L211P	probably damaging	Het
Dclk2	G	T	3: 86,813,272 (GRCm39)	Q225K	probably damaging	Het
Ddx60	T	C	8: 62,453,616 (GRCm39)	F1245S	probably benign	Het
Efcab3	A	G	11: 104,835,259 (GRCm39)	K3540E	unknown	Het
Eif3i	T	C	4: 129,487,145 (GRCm39)	N240S	probably benign	Het
Enpp1	T	C	10: 24,536,152 (GRCm39)	Y416C	probably damaging	Het
Epb42	T	A	2: 120,854,889 (GRCm39)	R565S	probably benign	Het
Eral1	G	A	11: 77,966,609 (GRCm39)	P217L	probably benign	Het
Fbxl16	A	G	17: 26,035,967 (GRCm39)	Y188C	probably benign	Het
Fgd3	G	A	13: 49,427,224 (GRCm39)	P503S	probably benign	Het
Frem3	T	C	8: 81,340,062 (GRCm39)	L785P	probably benign	Het
Gadl1	A	G	9: 115,835,769 (GRCm39)		probably null	Het
Gm10787	C	T	10: 76,857,676 (GRCm39)		noncoding transcript	Het
Gm6563	A	G	19: 23,653,246 (GRCm39)	K12R	probably benign	Het
Grm5	T	C	7: 87,675,758 (GRCm39)	L424P	probably damaging	Het
H2ac11	A	G	13: 22,227,006 (GRCm39)	V31A	probably benign	Het
Il17re	T	C	6: 113,447,069 (GRCm39)	S607P	possibly damaging	Het
Ints7	A	G	1: 191,353,524 (GRCm39)		probably benign	Het
Itih1	A	G	14: 30,651,780 (GRCm39)	M854T	possibly damaging	Het
Kif1b	A	G	4: 149,348,086 (GRCm39)	L315P	probably damaging	Het
Ms4a6b	T	C	19: 11,497,734 (GRCm39)	V11A	possibly damaging	Het
Mxd1	C	A	6: 86,627,966 (GRCm39)	D191Y	probably damaging	Het
Nol8	T	A	13: 49,807,160 (GRCm39)		probably null	Het
Ntn4	T	A	10: 93,543,128 (GRCm39)		probably null	Het
Nxph1	A	T	6: 9,247,103 (GRCm39)	T25S	probably benign	Het
Or1n1	A	G	2: 36,749,853 (GRCm39)	V169A	probably benign	Het
Or2bd2	A	C	7: 6,443,354 (GRCm39)	T152P	possibly damaging	Het
Or3a1	A	T	11: 74,225,961 (GRCm39)	I32K	probably benign	Het
Or51f1d	A	G	7: 102,700,526 (GRCm39)	N7S	probably benign	Het
Or5ac20	C	T	16: 59,104,342 (GRCm39)	V173I	probably benign	Het
Or6c219	A	G	10: 129,781,695 (GRCm39)	F79L	possibly damaging	Het
Oxsm	T	A	14: 16,242,308 (GRCm38)	M154L	possibly damaging	Het
Papolg	A	C	11: 23,841,815 (GRCm39)	I36S	probably benign	Het
Pde3b	T	A	7: 114,107,502 (GRCm39)	H544Q	probably benign	Het
Pdzd2	A	T	15: 12,592,656 (GRCm39)		probably null	Het
Prkce	C	A	17: 86,800,775 (GRCm39)	P397Q	probably benign	Het
Ralgapa2	T	C	2: 146,276,765 (GRCm39)	S492G	possibly damaging	Het
Rnf216	A	G	5: 143,054,659 (GRCm39)	Y630H	probably damaging	Het
Ruvbl1	C	T	6: 88,459,973 (GRCm39)	T211I	possibly damaging	Het
Scyl2	A	T	10: 89,481,348 (GRCm39)	D666E	probably benign	Het
Sertad2	A	G	11: 20,598,436 (GRCm39)	T211A	probably benign	Het
Sipa1l1	A	T	12: 82,487,643 (GRCm39)	Q1639L	probably benign	Het
Snx5	T	C	2: 144,101,073 (GRCm39)	D98G	probably damaging	Het
Sorcs2	G	T	5: 36,185,332 (GRCm39)		probably null	Het
Spmip2	T	C	3: 79,313,192 (GRCm39)	S89P	probably damaging	Het
Tanc2	G	A	11: 105,758,543 (GRCm39)	R768Q	probably damaging	Het
Tmem132d	A	G	5: 128,346,181 (GRCm39)	S114P	probably benign	Het
Tns2	G	A	15: 102,019,846 (GRCm39)	G579R	probably damaging	Het
Usp37	A	T	1: 74,517,295 (GRCm39)		probably null	Het
Vmn1r79	T	C	7: 11,910,448 (GRCm39)	I110T	probably damaging	Het
Vps37a	C	T	8: 40,981,363 (GRCm39)	L69F	probably damaging	Het
Xirp2	T	A	2: 67,338,587 (GRCm39)	I276N	possibly damaging	Het
Zfp946	G	A	17: 22,673,821 (GRCm39)	E192K	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
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
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'- CCTAAGGGCTGGCACTGTC -3'
(R):5'- CCCATAACTTGAAAACTCTACTCATGG -3'

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

Posted On

2017-07-14