Mutagenetix > Incidental Mutations

Incidental Mutation 'R1717:Aldh1a2'

191131

Institutional Source

Beutler Lab

Gene Symbol

Aldh1a2

Ensembl Gene

ENSMUSG00000013584

Gene Name

aldehyde dehydrogenase family 1, subfamily A2

Synonyms

retinaldehyde dehydrogenase, Aldh1a7, Raldh2

MMRRC Submission

039750-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1717 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71215789-71296243 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 71293671 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 517 (N517I)

Ref Sequence

ENSEMBL: ENSMUSP00000034723 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000034723
AA Change: N517I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034723
Gene: ENSMUSG00000013584
AA Change: N517I

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

Meta Mutation Damage Score

0.1386

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

98% (81/83)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	T	C	14: 49,751,664	D616G	probably damaging	Het
4732465J04Rik	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT	10: 95,793,779		probably null	Het
4930583I09Rik	T	C	17: 64,834,449	N53S	unknown	Het
4933434E20Rik	T	A	3: 90,056,237	S67T	probably benign	Het
9230019H11Rik	A	T	10: 3,125,050		noncoding transcript	Het
Abcc8	T	C	7: 46,115,815	I1127V	possibly damaging	Het
Abcg3	G	A	5: 104,963,555	Q349*	probably null	Het
Adam2	A	G	14: 66,068,558	L158P	probably damaging	Het
Agrn	GCTCT	GCTCTCT	4: 156,166,519		probably null	Het
Agrp	G	T	8: 105,566,835	T106K	probably damaging	Het
Akap11	C	A	14: 78,513,348	S533I	probably benign	Het
Aldh4a1	A	T	4: 139,638,529	H277L	possibly damaging	Het
Aldh4a1	G	A	4: 139,633,994		probably null	Het
Ankrd27	A	G	7: 35,628,446	D742G	possibly damaging	Het
Anpep	C	T	7: 79,838,256	E518K	probably benign	Het
Arhgef7	C	A	8: 11,808,712		probably benign	Het
Arhgef7	C	A	8: 11,808,713		probably null	Het
Arvcf	A	G	16: 18,401,569	K568E	possibly damaging	Het
Atp8b3	G	A	10: 80,528,797	R521W	probably damaging	Het
Casp16-ps	A	G	17: 23,552,050	I127T	possibly damaging	Het
Cd163	A	G	6: 124,329,588		probably benign	Het
Cdh8	A	T	8: 99,030,705	S754T	probably damaging	Het
Cel	A	G	2: 28,556,777	Y461H	probably damaging	Het
Chmp4b	A	G	2: 154,657,320	I47V	possibly damaging	Het
Col1a1	A	G	11: 94,948,392	M989V	unknown	Het
Cpsf1	A	T	15: 76,602,566	S257T	possibly damaging	Het
Csmd1	A	T	8: 17,216,692	S73T	possibly damaging	Het
Csnk2a2	T	C	8: 95,455,808		probably null	Het
Dact2	A	T	17: 14,197,913	W177R	probably benign	Het
Ddx10	A	G	9: 53,159,953	V680A	probably benign	Het
Eif5	T	A	12: 111,542,217	D215E	probably benign	Het
Evpl	C	T	11: 116,225,492	A817T	probably benign	Het
Fmo6	T	A	1: 162,926,252	R131*	probably null	Het
Fsd2	T	C	7: 81,535,109	T680A	probably benign	Het
Fsip2	T	C	2: 82,974,945	V536A	possibly damaging	Het
Fzd8	T	C	18: 9,214,364	F482S	probably damaging	Het
Gabrb1	A	T	5: 72,108,351		probably null	Het
Galnt9	T	G	5: 110,596,212	I304S	probably benign	Het
Glra3	G	T	8: 55,940,907	A18S	probably benign	Het
Gm5334	A	C	7: 68,618,977		noncoding transcript	Het
Grcc10	A	T	6: 124,740,513		probably benign	Het
Hmcn1	T	C	1: 150,859,186	T192A	probably damaging	Het
Ip6k1	G	A	9: 108,040,996	E77K	possibly damaging	Het
Irgm2	T	A	11: 58,220,635	L396Q	probably damaging	Het
Ksr2	T	A	5: 117,671,449	C426S	probably damaging	Het
Lair1	A	G	7: 4,010,789	F153S	probably damaging	Het
Lrp1	T	C	10: 127,556,269	H2835R	possibly damaging	Het
Lrp1	T	C	10: 127,563,665	T2325A	probably damaging	Het
Lrrd1	T	C	5: 3,850,580	F295S	probably damaging	Het
Meis1	T	A	11: 19,010,608		probably benign	Het
Mkln1	T	A	6: 31,507,644	I156K	probably benign	Het
Mmd2	T	C	5: 142,575,350		probably benign	Het
Morc1	A	G	16: 48,452,477	I156V	probably benign	Het
Muc4	A	G	16: 32,753,405	T1094A	possibly damaging	Het
Nckap1	A	G	2: 80,512,670		probably benign	Het
Neb	A	G	2: 52,308,747	I394T	possibly damaging	Het
Olfr1111	A	T	2: 87,149,806	L285*	probably null	Het
Olfr1112	A	T	2: 87,191,903	N72I	probably benign	Het
Olfr1509	T	C	14: 52,450,839	V142A	probably benign	Het
Olfr331	T	A	11: 58,502,059	M166L	probably benign	Het
Olfr933	C	T	9: 38,976,410	L245F	probably damaging	Het
Pcdha1	T	C	18: 36,932,184	S634P	probably benign	Het
Pcdhb12	T	A	18: 37,436,788	V329E	probably damaging	Het
Pcf11	A	T	7: 92,663,585	D193E	probably benign	Het
Pcsk1	G	C	13: 75,110,828	M240I	probably damaging	Het
Pdc	T	A	1: 150,333,141	I125N	probably damaging	Het
Plch2	C	T	4: 154,998,272	G564S	probably benign	Het
Rasgrf1	G	T	9: 89,953,913	Q231H	probably damaging	Het
Riok1	T	A	13: 38,052,950	I389N	probably damaging	Het
Ror1	T	A	4: 100,302,938	S50R	probably benign	Het
Samd13	T	C	3: 146,646,315	T75A	probably benign	Het
Siglec1	G	A	2: 131,073,956	H1329Y	possibly damaging	Het
Siglec1	T	C	2: 131,084,012	N258S	probably damaging	Het
Slbp	G	A	5: 33,645,602	A126V	probably benign	Het
Slc12a4	A	T	8: 105,947,571		probably null	Het
Specc1	A	G	11: 62,128,392	I686V	possibly damaging	Het
Synpo2	C	A	3: 123,112,554	V1038F	probably damaging	Het
Tbk1	G	A	10: 121,561,645	T374I	probably benign	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Tmem190	T	C	7: 4,784,133	L112P	probably damaging	Het
Tsc2	C	T	17: 24,597,068	R1715Q	probably damaging	Het
Vmn1r46	T	C	6: 89,976,829	L220P	probably damaging	Het
Vwa3a	A	G	7: 120,793,386	Q816R	probably benign	Het
Zfhx4	T	C	3: 5,403,104	I2799T	probably benign	Het
Zfp105	T	C	9: 122,930,631	S456P	probably damaging	Het

Other mutations in Aldh1a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00931:Aldh1a2	APN	9	71215969	splice site	probably benign
IGL01327:Aldh1a2	APN	9	71285966	missense	possibly damaging	0.95
IGL02293:Aldh1a2	APN	9	71285277	splice site	probably null
IGL03380:Aldh1a2	APN	9	71255117	nonsense	probably null
R0574:Aldh1a2	UTSW	9	71281708	critical splice donor site	probably null
R1189:Aldh1a2	UTSW	9	71263823	missense	possibly damaging	0.69
R1217:Aldh1a2	UTSW	9	71281682	missense	possibly damaging	0.94
R1270:Aldh1a2	UTSW	9	71281706	missense	probably benign	0.03
R1445:Aldh1a2	UTSW	9	71285210	missense	possibly damaging	0.82
R1737:Aldh1a2	UTSW	9	71285171	missense	possibly damaging	0.56
R1755:Aldh1a2	UTSW	9	71261741	nonsense	probably null
R1984:Aldh1a2	UTSW	9	71253052	missense	probably damaging	1.00
R2248:Aldh1a2	UTSW	9	71215862	missense	possibly damaging	0.90
R2407:Aldh1a2	UTSW	9	71252598	missense	probably damaging	0.99
R3772:Aldh1a2	UTSW	9	71252920	missense	probably damaging	1.00
R4945:Aldh1a2	UTSW	9	71215916	missense	probably benign	0.00
R5042:Aldh1a2	UTSW	9	71285004	missense	possibly damaging	0.69
R5066:Aldh1a2	UTSW	9	71281700	missense	possibly damaging	0.82
R5406:Aldh1a2	UTSW	9	71255121	missense	possibly damaging	0.93
R5425:Aldh1a2	UTSW	9	71253004	missense	probably benign	0.00
R5588:Aldh1a2	UTSW	9	71283450	missense	probably damaging	1.00
R6048:Aldh1a2	UTSW	9	71261767	missense	probably damaging	0.98
R6455:Aldh1a2	UTSW	9	71252914	critical splice acceptor site	probably null
R6642:Aldh1a2	UTSW	9	71252986	missense	probably damaging	1.00
R7253:Aldh1a2	UTSW	9	71215934	missense	probably benign
R7514:Aldh1a2	UTSW	9	71284963	missense	probably damaging	1.00
R7981:Aldh1a2	UTSW	9	71263820	missense	probably damaging	1.00
RF018:Aldh1a2	UTSW	9	71285270	missense	probably damaging	1.00
Z1177:Aldh1a2	UTSW	9	71283522	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- CCATGACCTTCTGCTCAGAACTGAC -3'
(R):5'- GCATCAATTGCTGAAGCTCCCTCAC -3'

Sequencing Primer
(F):5'- TGCTCAGAACTGACAGCTTC -3'
(R):5'- AGGCAACTCCTTCCAGAGTG -3'

Posted On

2014-05-14