Incidental Mutation 'IGL01327:Aldh1a2'
ID 74334
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aldh1a2
Ensembl Gene ENSMUSG00000013584
Gene Name aldehyde dehydrogenase family 1, subfamily A2
Synonyms Aldh1a7, retinaldehyde dehydrogenase, Raldh2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01327
Quality Score
Status
Chromosome 9
Chromosomal Location 71123071-71203525 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 71193248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 486 (F486I)
Ref Sequence ENSEMBL: ENSMUSP00000034723 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034723]
AlphaFold Q62148
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: 148,029,521 (GRCm39) V497E probably damaging Het
Adcy7 T G 8: 89,045,418 (GRCm39) probably benign Het
Alox12 T A 11: 70,145,375 (GRCm39) H66L probably benign Het
Apoh T G 11: 108,288,187 (GRCm39) Y102D probably damaging Het
Arl9 T C 5: 77,154,401 (GRCm39) V43A possibly damaging Het
Atf6 A G 1: 170,616,175 (GRCm39) probably null Het
Atp4a T A 7: 30,412,675 (GRCm39) I127N possibly damaging Het
AY358078 T A 14: 52,043,166 (GRCm39) probably benign Het
Baat T G 4: 49,490,338 (GRCm39) K249Q probably damaging Het
Brat1 C T 5: 140,703,963 (GRCm39) Q739* probably null Het
C8g A G 2: 25,389,089 (GRCm39) F165L probably damaging Het
Cel T G 2: 28,447,967 (GRCm39) D353A possibly damaging Het
Col6a1 G T 10: 76,546,813 (GRCm39) T803K unknown Het
Cpxm1 A G 2: 130,238,277 (GRCm39) L95P probably benign Het
Ctsr A G 13: 61,310,489 (GRCm39) probably benign Het
Cyth1 A G 11: 118,084,439 (GRCm39) probably null Het
Dync1h1 A T 12: 110,583,126 (GRCm39) probably benign Het
Ezh1 C T 11: 101,094,262 (GRCm39) C407Y probably damaging Het
Fam243 T C 16: 92,117,661 (GRCm39) Y209C probably benign Het
Gm3696 A T 14: 18,435,903 (GRCm39) W38R probably benign Het
Gm9611 T C 14: 42,116,622 (GRCm39) T39A possibly damaging Het
Gnpat T A 8: 125,605,372 (GRCm39) L287H probably damaging Het
Golm1 G T 13: 59,792,958 (GRCm39) N182K possibly damaging Het
Hdac6 T C X: 7,798,013 (GRCm39) M899V probably benign Het
Hsf3 T A X: 95,358,578 (GRCm39) M272L probably benign Het
Kif19a C T 11: 114,672,625 (GRCm39) probably benign Het
Lcn2 T G 2: 32,276,030 (GRCm39) Y100S possibly damaging Het
Lrrc8d T A 5: 105,960,131 (GRCm39) S180R probably damaging Het
Ly6h A G 15: 75,436,948 (GRCm39) probably benign Het
Macf1 T C 4: 123,403,705 (GRCm39) N705D probably benign Het
Mst1r C T 9: 107,785,043 (GRCm39) P234S probably benign Het
Msto1 T A 3: 88,817,939 (GRCm39) probably null Het
Myo5a T A 9: 75,094,820 (GRCm39) probably benign Het
Nipa1 T C 7: 55,629,409 (GRCm39) I235V probably benign Het
Nlgn3 T C X: 100,362,228 (GRCm39) V399A probably benign Het
Or1d2 T A 11: 74,255,738 (GRCm39) M81K possibly damaging Het
Or2b28 A G 13: 21,531,377 (GRCm39) N93S probably benign Het
Pih1d1 T C 7: 44,809,399 (GRCm39) S289P probably benign Het
Ppl T C 16: 4,905,508 (GRCm39) N1596D probably benign Het
Psmb6 T A 11: 70,417,412 (GRCm39) S114R possibly damaging Het
Pum1 C A 4: 130,457,854 (GRCm39) Q289K probably damaging Het
Shkbp1 T C 7: 27,054,676 (GRCm39) I75V probably benign Het
Slc24a3 T A 2: 145,444,478 (GRCm39) I284N probably benign Het
Slc44a3 C T 3: 121,320,842 (GRCm39) G53D probably damaging Het
Slc9a4 A C 1: 40,668,565 (GRCm39) D736A probably benign Het
Stra6 A G 9: 58,059,854 (GRCm39) D605G probably benign Het
Tas2r126 T A 6: 42,411,684 (GRCm39) H72Q probably benign Het
Tbrg1 C T 9: 37,564,408 (GRCm39) R166Q probably benign Het
Thumpd1 C T 7: 119,319,925 (GRCm39) G14R probably benign Het
Ticrr C T 7: 79,344,209 (GRCm39) T1358I probably benign Het
Tmtc2 A T 10: 105,184,340 (GRCm39) N518K probably benign Het
Trpm4 C A 7: 44,964,497 (GRCm39) W533C probably damaging Het
Tsen54 T C 11: 115,712,538 (GRCm39) Y119H possibly damaging Het
Tulp3 G A 6: 128,304,597 (GRCm39) T219M probably damaging Het
Usp19 T C 9: 108,376,160 (GRCm39) L1000S possibly damaging Het
Vps16 A T 2: 130,279,616 (GRCm39) Y43F probably benign Het
Vsig1 T A X: 139,838,429 (GRCm39) V283E possibly damaging Het
Other mutations in Aldh1a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00931:Aldh1a2 APN 9 71,123,251 (GRCm39) splice site probably benign
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
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
Posted On 2013-10-07