Incidental Mutation 'R4117:Rdh12'
| ID |
315143 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rdh12
|
| Ensembl Gene |
ENSMUSG00000021123 |
| Gene Name |
retinol dehydrogenase 12 |
| Synonyms |
A930033N07Rik |
| MMRRC Submission |
040991-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4117 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
79255687-79269438 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 79260419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 172
(R172C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021548]
[ENSMUST00000122227]
[ENSMUST00000140823]
|
| AlphaFold |
Q8BYK4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021548
AA Change: R184C
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021548
Gene: ENSMUSG00000021123
AA Change: R184C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:KR
|
40 |
209 |
7.4e-13 |
PFAM |
|
Pfam:adh_short
|
40 |
243 |
1.2e-37 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122227
AA Change: R172C
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112543
Gene: ENSMUSG00000021123
AA Change: R172C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:KR
|
40 |
202 |
7.4e-9 |
PFAM |
|
Pfam:adh_short
|
40 |
207 |
8.3e-16 |
PFAM |
|
Pfam:Epimerase
|
42 |
227 |
2.1e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140823
|
| SMART Domains |
Protein: ENSMUSP00000118851
Gene: ENSMUSG00000021123
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KR
|
28 |
130 |
3e-11 |
PFAM |
|
Pfam:adh_short
|
28 |
137 |
2.7e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151980
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
97% (31/32) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. The encoded enzyme also plays a role in the metabolism of short-chain aldehydes but does not exhibit steroid dehydrogenase activity. Defects in the human gene are associated with Leber congenital amaurosis type 13, and Retinitis Pigmentosa 53. [provided by RefSeq, Sep 2015]
PHENOTYPE: Deletion of this gene in mice results in slowed kinetics of all-trans-retinal reduction leading to delayed dark adaptation and increased susceptibility to light-induced photoreceptor apoptosis from accelerated 11-cis-retinal production. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
T |
C |
2: 155,398,313 (GRCm39) |
F358L |
probably damaging |
Het |
| Adamts16 |
A |
G |
13: 70,916,111 (GRCm39) |
Y775H |
probably benign |
Het |
| Bard1 |
A |
T |
1: 71,085,922 (GRCm39) |
H594Q |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cenpt |
G |
A |
8: 106,576,332 (GRCm39) |
S73L |
probably benign |
Het |
| Ctdnep1 |
C |
A |
11: 69,879,497 (GRCm39) |
A7D |
probably damaging |
Het |
| Fam210b |
T |
C |
2: 172,193,486 (GRCm39) |
S100P |
probably benign |
Het |
| Fyb1 |
A |
C |
15: 6,659,597 (GRCm39) |
D434A |
probably damaging |
Het |
| H2-T15 |
T |
C |
17: 36,368,496 (GRCm39) |
D144G |
probably damaging |
Het |
| Heph |
T |
C |
X: 95,544,221 (GRCm39) |
V615A |
probably benign |
Het |
| Icam5 |
T |
A |
9: 20,948,886 (GRCm39) |
V746E |
probably damaging |
Het |
| Maml2 |
A |
G |
9: 13,617,230 (GRCm39) |
Q192R |
probably damaging |
Het |
| Npas4 |
T |
C |
19: 5,037,391 (GRCm39) |
Y301C |
probably damaging |
Het |
| Nup205 |
C |
T |
6: 35,217,947 (GRCm39) |
Q1767* |
probably null |
Het |
| Or51f5 |
T |
A |
7: 102,423,684 (GRCm39) |
|
probably null |
Het |
| Pigg |
A |
G |
5: 108,495,908 (GRCm39) |
R982G |
probably benign |
Het |
| Plekhg2 |
A |
T |
7: 28,060,313 (GRCm39) |
H1005Q |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Semp2l2b |
T |
A |
10: 21,943,615 (GRCm39) |
N122Y |
probably benign |
Het |
| Septin4 |
T |
C |
11: 87,459,108 (GRCm39) |
F494S |
probably damaging |
Het |
| Serpinb9 |
T |
A |
13: 33,199,579 (GRCm39) |
D291E |
probably benign |
Het |
| She |
A |
T |
3: 89,759,679 (GRCm39) |
Y394F |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,195,249 (GRCm39) |
S830G |
probably damaging |
Het |
| Stmn4 |
T |
C |
14: 66,598,581 (GRCm39) |
*217Q |
probably null |
Het |
| Stx17 |
A |
G |
4: 48,180,689 (GRCm39) |
D178G |
probably damaging |
Het |
| Tbc1d9 |
T |
G |
8: 83,992,776 (GRCm39) |
I960S |
possibly damaging |
Het |
| Ubxn10 |
G |
T |
4: 138,448,276 (GRCm39) |
D133E |
probably benign |
Het |
| Vmn2r42 |
T |
C |
7: 8,197,839 (GRCm39) |
Y260C |
probably damaging |
Het |
| Vmn2r7 |
A |
C |
3: 64,623,138 (GRCm39) |
|
probably benign |
Het |
| Zfp143 |
C |
T |
7: 109,691,120 (GRCm39) |
T557I |
probably damaging |
Het |
| Zfp607b |
A |
G |
7: 27,398,107 (GRCm39) |
I64V |
probably damaging |
Het |
|
| Other mutations in Rdh12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00429:Rdh12
|
APN |
12 |
79,258,176 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02651:Rdh12
|
APN |
12 |
79,268,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02828:Rdh12
|
APN |
12 |
79,265,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1070:Rdh12
|
UTSW |
12 |
79,260,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1394:Rdh12
|
UTSW |
12 |
79,255,839 (GRCm39) |
missense |
probably benign |
|
|
R1395:Rdh12
|
UTSW |
12 |
79,255,839 (GRCm39) |
missense |
probably benign |
|
|
R1467:Rdh12
|
UTSW |
12 |
79,260,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1467:Rdh12
|
UTSW |
12 |
79,260,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1591:Rdh12
|
UTSW |
12 |
79,258,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1633:Rdh12
|
UTSW |
12 |
79,265,498 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3753:Rdh12
|
UTSW |
12 |
79,260,446 (GRCm39) |
nonsense |
probably null |
|
|
R5001:Rdh12
|
UTSW |
12 |
79,259,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5509:Rdh12
|
UTSW |
12 |
79,257,558 (GRCm39) |
splice site |
probably null |
|
|
R8366:Rdh12
|
UTSW |
12 |
79,258,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8899:Rdh12
|
UTSW |
12 |
79,268,802 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTCCTGCCATTCGATCCAC -3'
(R):5'- TCTGGACCAAGGATTTCGTTCTTG -3'
Sequencing Primer
(F):5'- CACACCCCTGAGCCTAGAGATG -3'
(R):5'- TCTCCATACTTACCTTGGAG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation