Incidental Mutation 'IGL01327:Aldh1a2'
ID74334
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aldh1a2
Ensembl Gene ENSMUSG00000013584
Gene Namealdehyde dehydrogenase family 1, subfamily A2
Synonymsretinaldehyde dehydrogenase, Aldh1a7, Raldh2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01327
Quality Score
Status
Chromosome9
Chromosomal Location71215789-71296243 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 71285966 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 486 (F486I)
Ref Sequence ENSEMBL: ENSMUSP00000034723 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034723]
Predicted Effect possibly damaging
Transcript: ENSMUST00000034723
AA Change: F486I

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034723
Gene: ENSMUSG00000013584
AA Change: F486I

DomainStartEndE-ValueType
Pfam:Aldedh 46 509 2.5e-187 PFAM
Coding Region Coverage
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T A 4: 147,945,064 V497E probably damaging Het
4930563D23Rik T C 16: 92,320,773 Y209C probably benign Het
Adcy7 T G 8: 88,318,790 probably benign Het
Alox12 T A 11: 70,254,549 H66L probably benign Het
Apoh T G 11: 108,397,361 Y102D probably damaging Het
Arl9 T C 5: 77,006,554 V43A possibly damaging Het
Atf6 A G 1: 170,788,606 probably null Het
Atp4a T A 7: 30,713,250 I127N possibly damaging Het
AY358078 T A 14: 51,805,709 probably benign Het
Baat T G 4: 49,490,338 K249Q probably damaging Het
Brat1 C T 5: 140,718,208 Q739* probably null Het
C8g A G 2: 25,499,077 F165L probably damaging Het
Cel T G 2: 28,557,955 D353A possibly damaging Het
Col6a1 G T 10: 76,710,979 T803K unknown Het
Cpxm1 A G 2: 130,396,357 L95P probably benign Het
Ctsr A G 13: 61,162,675 probably benign Het
Cyth1 A G 11: 118,193,613 probably null Het
Dync1h1 A T 12: 110,616,692 probably benign Het
Ezh1 C T 11: 101,203,436 C407Y probably damaging Het
Gm3696 A T 14: 7,090,701 W38R probably benign Het
Gm9611 T C 14: 42,294,665 T39A possibly damaging Het
Gnpat T A 8: 124,878,633 L287H probably damaging Het
Golm1 G T 13: 59,645,144 N182K possibly damaging Het
Hdac6 T C X: 7,931,774 M899V probably benign Het
Hsf3 T A X: 96,314,972 M272L probably benign Het
Kif19a C T 11: 114,781,799 probably benign Het
Lcn2 T G 2: 32,386,018 Y100S possibly damaging Het
Lrrc8d T A 5: 105,812,265 S180R probably damaging Het
Ly6h A G 15: 75,565,099 probably benign Het
Macf1 T C 4: 123,509,912 N705D probably benign Het
Mst1r C T 9: 107,907,844 P234S probably benign Het
Msto1 T A 3: 88,910,632 probably null Het
Myo5a T A 9: 75,187,538 probably benign Het
Nipa1 T C 7: 55,979,661 I235V probably benign Het
Nlgn3 T C X: 101,318,622 V399A probably benign Het
Olfr1367 A G 13: 21,347,207 N93S probably benign Het
Olfr412 T A 11: 74,364,912 M81K possibly damaging Het
Pih1d1 T C 7: 45,159,975 S289P probably benign Het
Ppl T C 16: 5,087,644 N1596D probably benign Het
Psmb6 T A 11: 70,526,586 S114R possibly damaging Het
Pum1 C A 4: 130,730,543 Q289K probably damaging Het
Shkbp1 T C 7: 27,355,251 I75V probably benign Het
Slc24a3 T A 2: 145,602,558 I284N probably benign Het
Slc44a3 C T 3: 121,527,193 G53D probably damaging Het
Slc9a4 A C 1: 40,629,405 D736A probably benign Het
Stra6 A G 9: 58,152,571 D605G probably benign Het
Tas2r126 T A 6: 42,434,750 H72Q probably benign Het
Tbrg1 C T 9: 37,653,112 R166Q probably benign Het
Thumpd1 C T 7: 119,720,702 G14R probably benign Het
Ticrr C T 7: 79,694,461 T1358I probably benign Het
Tmtc2 A T 10: 105,348,479 N518K probably benign Het
Trpm4 C A 7: 45,315,073 W533C probably damaging Het
Tsen54 T C 11: 115,821,712 Y119H possibly damaging Het
Tulp3 G A 6: 128,327,634 T219M probably damaging Het
Usp19 T C 9: 108,498,961 L1000S possibly damaging Het
Vps16 A T 2: 130,437,696 Y43F probably benign Het
Vsig1 T A X: 140,937,680 V283E possibly damaging Het
Other mutations in Aldh1a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00931:Aldh1a2 APN 9 71215969 splice site probably benign
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
R1717:Aldh1a2 UTSW 9 71293671 missense probably damaging 0.99
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
Posted On2013-10-07