Mutagenetix > Incidental Mutation

Incidental Mutation 'R7253:Aldh1a2'

564084

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

045314-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7253 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71123071-71203525 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71123216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 30 (T30A)

Ref Sequence

ENSEMBL: ENSMUSP00000034723 (fasta)

Gene Model

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

AlphaFold

Q62148

Predicted Effect

probably benign
Transcript: ENSMUST00000034723
AA Change: T30A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034723
Gene: ENSMUSG00000013584
AA Change: T30A

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

Meta Mutation Damage Score

0.0609

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (74/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	G	4: 39,451,391 (GRCm39)	H199R	not run	Het
Ak9	A	G	10: 41,308,480 (GRCm39)	N1804S	unknown	Het
Akr1c21	C	A	13: 4,627,139 (GRCm39)	T147N	probably damaging	Het
Alox15	T	C	11: 70,236,724 (GRCm39)	D447G	probably damaging	Het
Amigo2	T	C	15: 97,142,956 (GRCm39)	I489V	probably benign	Het
Ano9	A	T	7: 140,687,350 (GRCm39)	Y322N	probably damaging	Het
Arhgap40	G	T	2: 158,389,576 (GRCm39)	W583L	probably benign	Het
Atxn2	A	G	5: 121,916,084 (GRCm39)	E430G	probably damaging	Het
Brip1	T	C	11: 86,034,104 (GRCm39)	Y539C	possibly damaging	Het
C87436	T	A	6: 86,442,790 (GRCm39)	L454Q	probably damaging	Het
Casp4	T	G	9: 5,324,868 (GRCm39)	Y227D	probably benign	Het
Ccn6	T	G	10: 39,031,031 (GRCm39)	N164T	probably benign	Het
Chd4	T	A	6: 125,083,555 (GRCm39)		probably null	Het
Chrna10	A	G	7: 101,761,293 (GRCm39)	C433R	probably benign	Het
Cntln	A	T	4: 85,036,710 (GRCm39)	N214I	probably damaging	Het
Colec12	G	A	18: 9,848,922 (GRCm39)	V367I	probably damaging	Het
Cyp46a1	T	C	12: 108,318,255 (GRCm39)	I222T	probably benign	Het
Dagla	A	T	19: 10,239,945 (GRCm39)		probably null	Het
Dcaf7	C	A	11: 105,938,669 (GRCm39)		probably null	Het
Dclk2	C	T	3: 86,700,566 (GRCm39)	R638H	probably damaging	Het
E2f7	A	G	10: 110,602,164 (GRCm39)		probably null	Het
Fam184a	G	T	10: 53,574,901 (GRCm39)	T236K	probably benign	Het
Glyctk	T	C	9: 106,032,661 (GRCm39)	T451A	probably damaging	Het
Hectd4	A	G	5: 121,452,944 (GRCm39)	K484E	possibly damaging	Het
Hspbap1	G	T	16: 35,637,600 (GRCm39)	C243F	unknown	Het
Hspg2	A	C	4: 137,247,257 (GRCm39)	N1160T	probably benign	Het
Ighv5-8	C	T	12: 113,618,728 (GRCm39)	L48F	probably benign	Het
Jazf1	C	A	6: 52,754,637 (GRCm39)	E146D	probably benign	Het
Katnb1	C	T	8: 95,822,125 (GRCm39)	Q284*	probably null	Het
Kctd18	G	T	1: 58,001,115 (GRCm39)	Y213*	probably null	Het
Klk1b26	T	C	7: 43,664,213 (GRCm39)	S23P	possibly damaging	Het
Krt88	T	C	15: 101,348,392 (GRCm39)	L26P	probably damaging	Het
Lrrc8b	G	A	5: 105,629,522 (GRCm39)	V623I	probably benign	Het
Map3k4	T	A	17: 12,490,955 (GRCm39)	M159L	probably benign	Het
Mast3	C	A	8: 71,242,326 (GRCm39)		probably null	Het
Mier1	G	A	4: 102,996,544 (GRCm39)		probably null	Het
Mrpl46	T	C	7: 78,431,207 (GRCm39)	D117G	probably damaging	Het
Ms4a6b	A	G	19: 11,497,760 (GRCm39)	S20G	probably benign	Het
Mup10	A	T	4: 60,538,077 (GRCm39)	M4K	unknown	Het
Nlrp5	C	T	7: 23,116,816 (GRCm39)	A180V	possibly damaging	Het
Nlrx1	T	A	9: 44,176,001 (GRCm39)		probably null	Het
Odad3	T	C	9: 21,913,767 (GRCm39)	T2A	probably damaging	Het
Or2a52	T	C	6: 43,144,744 (GRCm39)	F251L	probably damaging	Het
Or2t45	T	C	11: 58,669,822 (GRCm39)	Y290H	probably damaging	Het
Or4c103	T	C	2: 88,513,969 (GRCm39)	T36A	possibly damaging	Het
Or51aa2	C	T	7: 103,187,995 (GRCm39)	A149T	probably benign	Het
Or5af2	T	A	11: 58,708,366 (GRCm39)	C177*	probably null	Het
Or5ak22	A	G	2: 85,229,983 (GRCm39)	I298T	probably benign	Het
Otud1	C	A	2: 19,663,742 (GRCm39)	D290E	probably damaging	Het
Pank4	A	G	4: 155,055,377 (GRCm39)	N249S	probably benign	Het
Pccb	G	T	9: 100,913,966 (GRCm39)	S84R	probably benign	Het
Pemt	A	T	11: 59,862,081 (GRCm39)	H194Q	possibly damaging	Het
Phtf2	A	G	5: 20,970,856 (GRCm39)	I634T	possibly damaging	Het
Pias2	T	G	18: 77,207,811 (GRCm39)	I232R	probably damaging	Het
Plce1	A	G	19: 38,686,952 (GRCm39)	E620G	probably damaging	Het
Pramel17	A	T	4: 101,692,725 (GRCm39)	V425E	probably benign	Het
Ptpn13	G	A	5: 103,713,150 (GRCm39)	E1758K	possibly damaging	Het
Ptprq	T	A	10: 107,444,134 (GRCm39)	Q1490L	probably benign	Het
Ptx3	G	T	3: 66,132,368 (GRCm39)	M296I	probably benign	Het
R3hdm2	C	T	10: 127,317,644 (GRCm39)	P464L	probably damaging	Het
Rapgef1	A	G	2: 29,589,733 (GRCm39)	E258G	possibly damaging	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,122 (GRCm39)		probably benign	Het
Senp8	T	C	9: 59,644,478 (GRCm39)	N226S	probably benign	Het
Six5	C	T	7: 18,828,901 (GRCm39)	R114C	probably damaging	Het
Slc10a1	T	C	12: 81,004,958 (GRCm39)	T195A	probably benign	Het
Slpi	G	T	2: 164,197,467 (GRCm39)	Q51K	probably benign	Het
Smarca4	T	C	9: 21,570,256 (GRCm39)	V753A	probably benign	Het
Tbc1d32	C	A	10: 56,074,537 (GRCm39)	M225I	probably benign	Het
Tent5a	C	A	9: 85,208,770 (GRCm39)	G18C	probably benign	Het
Tnfrsf21	G	A	17: 43,348,558 (GRCm39)	V57I	probably benign	Het
Trim44	G	T	2: 102,177,313 (GRCm39)	P336T	possibly damaging	Het
Txlnb	A	G	10: 17,703,633 (GRCm39)	I264V	probably damaging	Het
Xirp2	A	C	2: 67,343,826 (GRCm39)	E2022D	probably benign	Het
Zfp975	A	G	7: 42,311,036 (GRCm39)	*526R	probably null	Het
Zp1	A	G	19: 10,893,933 (GRCm39)	L424P	probably damaging	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
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'- GCCGCACGTCCAATAAGAAG -3'
(R):5'- ATAGGGGACTCCAGAACCAGAC -3'

Sequencing Primer
(F):5'- CGTCCAATAAGAAGCGCCC -3'
(R):5'- AGGTCTGCTCTGGGAAATCC -3'

Posted On

2019-06-26