Incidental Mutation 'R1717:Aldh1a2'
ID 191131
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 039750-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1717 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 71123071-71203525 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 71200953 bp (GRCm39)
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]
AlphaFold Q62148
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

DomainStartEndE-ValueType
Pfam:Aldedh 46 509 2.5e-187 PFAM
Meta Mutation Damage Score 0.1386 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732465J04Rik GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT 10: 95,629,641 (GRCm39) probably null Het
4930583I09Rik T C 17: 65,141,444 (GRCm39) N53S unknown Het
4933434E20Rik T A 3: 89,963,544 (GRCm39) S67T probably benign Het
Abcc8 T C 7: 45,765,239 (GRCm39) I1127V possibly damaging Het
Abcg3 G A 5: 105,111,421 (GRCm39) Q349* probably null Het
Adam2 A G 14: 66,306,007 (GRCm39) L158P probably damaging Het
Agrn GCTCT GCTCTCT 4: 156,250,976 (GRCm39) probably null Het
Agrp G T 8: 106,293,467 (GRCm39) T106K probably damaging Het
Akap11 C A 14: 78,750,788 (GRCm39) S533I probably benign Het
Aldh4a1 A T 4: 139,365,840 (GRCm39) H277L possibly damaging Het
Aldh4a1 G A 4: 139,361,305 (GRCm39) probably null Het
Ankrd27 A G 7: 35,327,871 (GRCm39) D742G possibly damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Arhgef7 C A 8: 11,858,712 (GRCm39) probably benign Het
Arhgef7 C A 8: 11,858,713 (GRCm39) probably null Het
Armh4 T C 14: 49,989,121 (GRCm39) D616G probably damaging Het
Arvcf A G 16: 18,220,319 (GRCm39) K568E possibly damaging Het
Atp8b3 G A 10: 80,364,631 (GRCm39) R521W probably damaging Het
Casp16 A G 17: 23,771,024 (GRCm39) I127T possibly damaging Het
Cd163 A G 6: 124,306,547 (GRCm39) probably benign Het
Cdh8 A T 8: 99,757,337 (GRCm39) S754T probably damaging Het
Cel A G 2: 28,446,789 (GRCm39) Y461H probably damaging Het
Chmp4b A G 2: 154,499,240 (GRCm39) I47V possibly damaging Het
Col1a1 A G 11: 94,839,218 (GRCm39) M989V unknown Het
Cpsf1 A T 15: 76,486,766 (GRCm39) S257T possibly damaging Het
Csmd1 A T 8: 17,266,708 (GRCm39) S73T possibly damaging Het
Csnk2a2 T C 8: 96,182,436 (GRCm39) probably null Het
Dact2 A T 17: 14,418,175 (GRCm39) W177R probably benign Het
Ddx10 A G 9: 53,071,253 (GRCm39) V680A probably benign Het
Eif5 T A 12: 111,508,651 (GRCm39) D215E probably benign Het
Evpl C T 11: 116,116,318 (GRCm39) A817T probably benign Het
Fmo6 T A 1: 162,753,821 (GRCm39) R131* probably null Het
Fsd2 T C 7: 81,184,857 (GRCm39) T680A probably benign Het
Fsip2 T C 2: 82,805,289 (GRCm39) V536A possibly damaging Het
Fzd8 T C 18: 9,214,364 (GRCm39) F482S probably damaging Het
Gabrb1 A T 5: 72,265,694 (GRCm39) probably null Het
Galnt9 T G 5: 110,744,078 (GRCm39) I304S probably benign Het
Glra3 G T 8: 56,393,942 (GRCm39) A18S probably benign Het
Gm5334 A C 7: 68,268,725 (GRCm39) noncoding transcript Het
Grcc10 A T 6: 124,717,476 (GRCm39) probably benign Het
Hmcn1 T C 1: 150,734,937 (GRCm39) T192A probably damaging Het
Ip6k1 G A 9: 107,918,195 (GRCm39) E77K possibly damaging Het
Irgm2 T A 11: 58,111,461 (GRCm39) L396Q probably damaging Het
Ksr2 T A 5: 117,809,514 (GRCm39) C426S probably damaging Het
Lair1 A G 7: 4,013,788 (GRCm39) F153S probably damaging Het
Lrp1 T C 10: 127,392,138 (GRCm39) H2835R possibly damaging Het
Lrp1 T C 10: 127,399,534 (GRCm39) T2325A probably damaging Het
Lrrd1 T C 5: 3,900,580 (GRCm39) F295S probably damaging Het
Meis1 T A 11: 18,960,608 (GRCm39) probably benign Het
Mkln1 T A 6: 31,484,579 (GRCm39) I156K probably benign Het
Mmd2 T C 5: 142,561,105 (GRCm39) probably benign Het
Morc1 A G 16: 48,272,840 (GRCm39) I156V probably benign Het
Muc4 A G 16: 32,753,405 (GRCm38) T1094A possibly damaging Het
Nckap1 A G 2: 80,343,014 (GRCm39) probably benign Het
Neb A G 2: 52,198,759 (GRCm39) I394T possibly damaging Het
Or12e1 A T 2: 87,022,247 (GRCm39) N72I probably benign Het
Or2t49 T A 11: 58,392,885 (GRCm39) M166L probably benign Het
Or4e2 T C 14: 52,688,296 (GRCm39) V142A probably benign Het
Or5as1 A T 2: 86,980,150 (GRCm39) L285* probably null Het
Or8d1b C T 9: 38,887,706 (GRCm39) L245F probably damaging Het
Pcdha1 T C 18: 37,065,237 (GRCm39) S634P probably benign Het
Pcdhb12 T A 18: 37,569,841 (GRCm39) V329E probably damaging Het
Pcf11 A T 7: 92,312,793 (GRCm39) D193E probably benign Het
Pcsk1 G C 13: 75,258,947 (GRCm39) M240I probably damaging Het
Pdc T A 1: 150,208,892 (GRCm39) I125N probably damaging Het
Plch2 C T 4: 155,082,729 (GRCm39) G564S probably benign Het
Rasgrf1 G T 9: 89,835,966 (GRCm39) Q231H probably damaging Het
Riok1 T A 13: 38,236,926 (GRCm39) I389N probably damaging Het
Ror1 T A 4: 100,160,135 (GRCm39) S50R probably benign Het
Samd13 T C 3: 146,352,070 (GRCm39) T75A probably benign Het
Siglec1 G A 2: 130,915,876 (GRCm39) H1329Y possibly damaging Het
Siglec1 T C 2: 130,925,932 (GRCm39) N258S probably damaging Het
Slbp G A 5: 33,802,946 (GRCm39) A126V probably benign Het
Slc12a4 A T 8: 106,674,203 (GRCm39) probably null Het
Specc1 A G 11: 62,019,218 (GRCm39) I686V possibly damaging Het
Synpo2 C A 3: 122,906,203 (GRCm39) V1038F probably damaging Het
Tbk1 G A 10: 121,397,550 (GRCm39) T374I probably benign Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Tmem190 T C 7: 4,787,132 (GRCm39) L112P probably damaging Het
Tsc2 C T 17: 24,816,042 (GRCm39) R1715Q probably damaging Het
Ulbp3 A T 10: 3,075,050 (GRCm39) noncoding transcript Het
Vmn1r46 T C 6: 89,953,811 (GRCm39) L220P probably damaging Het
Vwa3a A G 7: 120,392,609 (GRCm39) Q816R probably benign Het
Zfhx4 T C 3: 5,468,164 (GRCm39) I2799T probably benign Het
Zfp105 T C 9: 122,759,696 (GRCm39) S456P 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
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
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