Incidental Mutation 'R5042:Aldh1a2'
ID 393262
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 042632-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5042 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 71123071-71203525 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71192286 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 413 (I413V)
Ref Sequence ENSEMBL: ENSMUSP00000034723 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034723]
AlphaFold Q62148
Predicted Effect possibly damaging
Transcript: ENSMUST00000034723
AA Change: I413V

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000034723
Gene: ENSMUSG00000013584
AA Change: I413V

DomainStartEndE-ValueType
Pfam:Aldedh 46 509 2.5e-187 PFAM
Meta Mutation Damage Score 0.2101 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 89.8%
Validation Efficiency 100% (57/57)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik T A 7: 29,273,927 (GRCm39) noncoding transcript Het
4933413J09Rik C A 14: 26,097,436 (GRCm39) noncoding transcript Het
Alpk2 C T 18: 65,483,579 (GRCm39) W143* probably null Het
Anpep G T 7: 79,489,217 (GRCm39) N318K probably benign Het
Art5 A T 7: 101,748,672 (GRCm39) L10H probably damaging Het
Atg2b T G 12: 105,587,521 (GRCm39) H1981P probably benign Het
B3gnt3 T C 8: 72,145,532 (GRCm39) T279A probably damaging Het
Bmp10 G T 6: 87,411,039 (GRCm39) E277D probably damaging Het
Ccdc180 A G 4: 45,916,255 (GRCm39) T191A probably damaging Het
Dars2 T A 1: 160,872,664 (GRCm39) probably benign Het
F5 T A 1: 164,047,020 (GRCm39) I2160N probably damaging Het
Fndc7 A T 3: 108,770,102 (GRCm39) V608D probably damaging Het
Gad1-ps A T 10: 99,281,516 (GRCm39) noncoding transcript Het
Gbp2b A G 3: 142,317,224 (GRCm39) K527E probably benign Het
Gm10719 T A 9: 3,018,970 (GRCm39) F72I probably damaging Het
Hes3 T A 4: 152,371,500 (GRCm39) S150C possibly damaging Het
Hp1bp3 T A 4: 137,949,419 (GRCm39) M1K probably null Het
Il17rd T A 14: 26,817,998 (GRCm39) V229E probably damaging Het
Iqch A G 9: 63,403,516 (GRCm39) M634T possibly damaging Het
Magel2 C T 7: 62,029,354 (GRCm39) R753W unknown Het
Med26 A G 8: 73,250,919 (GRCm39) V60A probably damaging Het
Myo1d T A 11: 80,448,347 (GRCm39) D926V probably damaging Het
Nat1 T G 8: 67,944,228 (GRCm39) D201E probably benign Het
Nav3 G T 10: 109,605,129 (GRCm39) S981R probably benign Het
Nbn C A 4: 15,981,446 (GRCm39) L513M probably benign Het
Nfatc3 T C 8: 106,834,757 (GRCm39) V701A probably benign Het
Nlrp9a A G 7: 26,270,703 (GRCm39) D911G probably damaging Het
Npr2 A T 4: 43,647,002 (GRCm39) I712F probably damaging Het
Oplah G A 15: 76,189,909 (GRCm39) R235* probably null Het
Or10a48 A G 7: 108,424,678 (GRCm39) I176T possibly damaging Het
Pcdha11 T A 18: 37,144,649 (GRCm39) Y247N probably damaging Het
Pcdhga9 A G 18: 37,870,630 (GRCm39) Y153C probably damaging Het
Pkd1 A T 17: 24,788,861 (GRCm39) D873V probably benign Het
Pnpla1 A G 17: 29,100,021 (GRCm39) N296S probably benign Het
Ppfia3 A G 7: 44,991,765 (GRCm39) V839A probably damaging Het
Ppm1j A T 3: 104,690,036 (GRCm39) Q148L probably null Het
Prune2 T A 19: 17,097,161 (GRCm39) N888K possibly damaging Het
Sh3bgr A G 16: 96,007,066 (GRCm39) D12G probably benign Het
Snph T A 2: 151,442,977 (GRCm39) I35F possibly damaging Het
Spag17 A T 3: 99,979,465 (GRCm39) D1442V probably damaging Het
Spidr T C 16: 15,936,767 (GRCm39) T113A probably benign Het
St13 A T 15: 81,249,693 (GRCm39) N349K probably damaging Het
Ttll6 C T 11: 96,045,430 (GRCm39) S549F possibly damaging Het
Uap1l1 A T 2: 25,252,097 (GRCm39) S473T possibly damaging Het
Vmn1r54 T C 6: 90,246,422 (GRCm39) V112A possibly damaging Het
Vmn2r57 G A 7: 41,078,086 (GRCm39) S124L probably benign Het
Wasf2 A T 4: 132,903,875 (GRCm39) R28W probably benign Het
Wwp2 T A 8: 108,275,117 (GRCm39) N417K possibly damaging Het
Zc3h13 A T 14: 75,576,836 (GRCm39) D1648V probably damaging Het
Other mutations in Aldh1a2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- AGTCACACAAAGGGGTTCATG -3'
(R):5'- GAAGACAGCTGCTACAAGTCC -3'

Sequencing Primer
(F):5'- GGTTCATGAGAATGTCCGTTTCCC -3'
(R):5'- GCTGCTACAAGTCCAAAGTCTGAG -3'
Posted On 2016-06-15