Incidental Mutation 'R1217:Aldh1a2'
| ID |
99753 |
| 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 |
039286-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1217 (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 71188964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 293
(N293D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034723
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034723]
|
| AlphaFold |
Q62148 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034723
AA Change: N293D
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000034723
Gene: ENSMUSG00000013584
AA Change: N293D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
46 |
509 |
2.5e-187 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214975
|
| Meta Mutation Damage Score |
0.2422 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.8%
- 20x: 87.6%
|
| Validation Efficiency |
100% (45/45) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora2a |
A |
T |
10: 75,169,049 (GRCm39) |
Y171F |
probably damaging |
Het |
| Agpat4 |
C |
T |
17: 12,429,203 (GRCm39) |
R152W |
probably damaging |
Het |
| Ash2l |
T |
C |
8: 26,312,913 (GRCm39) |
N441S |
probably damaging |
Het |
| Asrgl1 |
A |
T |
19: 9,093,864 (GRCm39) |
|
probably null |
Het |
| Capn3 |
C |
A |
2: 120,316,902 (GRCm39) |
S277* |
probably null |
Het |
| Ccdc168 |
A |
T |
1: 44,096,339 (GRCm39) |
S1586R |
possibly damaging |
Het |
| Ccp110 |
T |
C |
7: 118,329,167 (GRCm39) |
|
probably benign |
Het |
| Cdh17 |
T |
C |
4: 11,799,676 (GRCm39) |
V491A |
probably benign |
Het |
| Cep170b |
T |
C |
12: 112,707,339 (GRCm39) |
S362P |
probably damaging |
Het |
| Cfap57 |
A |
G |
4: 118,463,849 (GRCm39) |
S335P |
possibly damaging |
Het |
| Cmklr1 |
A |
T |
5: 113,752,107 (GRCm39) |
L298Q |
probably damaging |
Het |
| Col4a4 |
A |
T |
1: 82,466,730 (GRCm39) |
|
probably null |
Het |
| Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
| Cyp2d26 |
A |
G |
15: 82,677,068 (GRCm39) |
|
probably benign |
Het |
| Cyth3 |
T |
C |
5: 143,688,575 (GRCm39) |
Y240H |
probably damaging |
Het |
| Dhx9 |
G |
A |
1: 153,334,109 (GRCm39) |
T1017I |
probably damaging |
Het |
| Edar |
T |
C |
10: 58,464,453 (GRCm39) |
Y62C |
probably damaging |
Het |
| Esyt3 |
C |
T |
9: 99,200,097 (GRCm39) |
G699D |
possibly damaging |
Het |
| Fgb |
T |
C |
3: 82,950,564 (GRCm39) |
T397A |
probably damaging |
Het |
| Foxc1 |
C |
A |
13: 31,992,668 (GRCm39) |
A493E |
unknown |
Het |
| Grid1 |
T |
C |
14: 34,542,186 (GRCm39) |
M1T |
probably null |
Het |
| Ipo4 |
T |
C |
14: 55,871,816 (GRCm39) |
K113R |
probably damaging |
Het |
| Kif21b |
A |
G |
1: 136,080,114 (GRCm39) |
E550G |
probably damaging |
Het |
| Krt1 |
T |
C |
15: 101,757,416 (GRCm39) |
K265E |
possibly damaging |
Het |
| Lmx1a |
G |
A |
1: 167,618,968 (GRCm39) |
R109H |
probably damaging |
Het |
| Mcm5 |
A |
G |
8: 75,852,919 (GRCm39) |
K677R |
probably benign |
Het |
| Metap1 |
A |
T |
3: 138,180,791 (GRCm39) |
L130* |
probably null |
Het |
| Mrgpra4 |
A |
G |
7: 47,631,085 (GRCm39) |
L172P |
probably benign |
Het |
| Mylip |
G |
A |
13: 45,560,178 (GRCm39) |
E205K |
probably damaging |
Het |
| Myo3b |
A |
C |
2: 70,161,224 (GRCm39) |
E1128A |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Nlrp4d |
T |
C |
7: 10,098,194 (GRCm39) |
I823V |
probably benign |
Het |
| Odad1 |
C |
T |
7: 45,592,182 (GRCm39) |
|
probably benign |
Het |
| Rec114 |
A |
T |
9: 58,573,103 (GRCm39) |
|
probably benign |
Het |
| Rimbp2 |
C |
T |
5: 128,865,351 (GRCm39) |
A666T |
probably benign |
Het |
| Siva1 |
C |
T |
12: 112,613,355 (GRCm39) |
Q68* |
probably null |
Het |
| Slc22a27 |
T |
A |
19: 7,904,033 (GRCm39) |
I35F |
probably benign |
Het |
| Slco1a5 |
T |
A |
6: 142,200,100 (GRCm39) |
N228I |
probably damaging |
Het |
| St8sia4 |
G |
A |
1: 95,581,464 (GRCm39) |
R93C |
probably damaging |
Het |
| Tprg1 |
T |
C |
16: 25,231,593 (GRCm39) |
S190P |
probably damaging |
Het |
| Trpc6 |
A |
G |
9: 8,658,287 (GRCm39) |
|
probably null |
Het |
| Vmn2r70 |
C |
T |
7: 85,208,269 (GRCm39) |
C736Y |
probably damaging |
Het |
| Zfp629 |
C |
T |
7: 127,211,916 (GRCm39) |
|
probably benign |
Het |
| Zswim4 |
A |
G |
8: 84,946,601 (GRCm39) |
V685A |
possibly damaging |
Het |
|
| Other mutations in Aldh1a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTTTAGCATCAACTGACTCCCAC -3'
(R):5'- ATGTAGCCAGCACACTGGAAGC -3'
Sequencing Primer
(F):5'- AACTGACTCCCACGTCCTG -3'
(R):5'- GTGGAAATGGCCCTAAACTGTTC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation