Incidental Mutation 'IGL02435:Rlbp1'
| ID |
293244 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rlbp1
|
| Ensembl Gene |
ENSMUSG00000039194 |
| Gene Name |
retinaldehyde binding protein 1 |
| Synonyms |
3110056M11Rik, CRALBP |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02435
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
79024618-79036796 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79031414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 105
(F105L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053718]
[ENSMUST00000179243]
[ENSMUST00000205442]
[ENSMUST00000205638]
[ENSMUST00000206162]
[ENSMUST00000206320]
[ENSMUST00000206695]
|
| AlphaFold |
Q9Z275 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053718
AA Change: F105L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000054545
Gene: ENSMUSG00000039194
AA Change: F105L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
68 |
N/A |
INTRINSIC |
|
CRAL_TRIO_N
|
92 |
117 |
1.18e-7 |
SMART |
|
SEC14
|
139 |
294 |
3.07e-42 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179243
AA Change: F105L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000137143
Gene: ENSMUSG00000039194
AA Change: F105L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
68 |
N/A |
INTRINSIC |
|
CRAL_TRIO_N
|
92 |
117 |
1.18e-7 |
SMART |
|
SEC14
|
139 |
294 |
3.07e-42 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205442
AA Change: F105L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205638
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206162
AA Change: F105L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206320
AA Change: F105L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206624
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206695
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a 36-kD water-soluble protein which carries 11-cis-retinaldehyde or 11-cis-retinal as physiologic ligands. It may be a functional component of the visual cycle. Mutations of this gene have been associated with severe rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal recessive retinitis pigmentosa) and retinitis punctata albescens. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display delayed dark adaptation as well as reduced retinal degeneration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amph |
A |
G |
13: 19,323,333 (GRCm39) |
|
probably benign |
Het |
| Ankrd12 |
G |
T |
17: 66,294,151 (GRCm39) |
S427R |
probably damaging |
Het |
| Atp4a |
A |
G |
7: 30,416,482 (GRCm39) |
T420A |
probably benign |
Het |
| Braf |
C |
T |
6: 39,623,700 (GRCm39) |
S414N |
probably benign |
Het |
| C1rl |
T |
C |
6: 124,485,832 (GRCm39) |
L401P |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,830,325 (GRCm39) |
|
probably benign |
Het |
| Elmo1 |
A |
T |
13: 20,773,826 (GRCm39) |
D612V |
probably damaging |
Het |
| Fbxo15 |
T |
C |
18: 84,977,351 (GRCm39) |
S88P |
probably damaging |
Het |
| Glrx3 |
A |
G |
7: 137,063,125 (GRCm39) |
N132S |
possibly damaging |
Het |
| Hamp |
G |
T |
7: 30,643,324 (GRCm39) |
Q29K |
probably benign |
Het |
| Igfbp2 |
G |
A |
1: 72,891,245 (GRCm39) |
R281Q |
probably damaging |
Het |
| Itih3 |
C |
T |
14: 30,637,711 (GRCm39) |
A483T |
probably damaging |
Het |
| Mrc1 |
C |
T |
2: 14,253,671 (GRCm39) |
Q231* |
probably null |
Het |
| Nif3l1 |
A |
G |
1: 58,487,020 (GRCm39) |
T69A |
possibly damaging |
Het |
| Ntrk1 |
A |
G |
3: 87,696,039 (GRCm39) |
F157S |
probably benign |
Het |
| Or2ag1b |
A |
G |
7: 106,288,710 (GRCm39) |
V76A |
probably benign |
Het |
| Or4a72 |
A |
G |
2: 89,405,890 (GRCm39) |
F60S |
probably damaging |
Het |
| Or5b97 |
A |
T |
19: 12,878,391 (GRCm39) |
I251N |
probably damaging |
Het |
| Pck2 |
T |
C |
14: 55,781,847 (GRCm39) |
|
probably benign |
Het |
| Pdgfrb |
T |
C |
18: 61,197,998 (GRCm39) |
|
probably null |
Het |
| Ric8b |
A |
G |
10: 84,815,940 (GRCm39) |
N194S |
probably benign |
Het |
| Sde2 |
G |
T |
1: 180,693,717 (GRCm39) |
K402N |
probably damaging |
Het |
| Slc13a3 |
T |
C |
2: 165,250,860 (GRCm39) |
H461R |
possibly damaging |
Het |
| Spag17 |
A |
T |
3: 99,889,760 (GRCm39) |
I210F |
possibly damaging |
Het |
| Szt2 |
G |
A |
4: 118,248,020 (GRCm39) |
R735W |
probably damaging |
Het |
| Tspan6 |
T |
C |
X: 132,793,493 (GRCm39) |
Y186C |
probably benign |
Het |
| Ugt8a |
A |
G |
3: 125,660,969 (GRCm39) |
S508P |
probably benign |
Het |
| Zfp217 |
T |
C |
2: 169,961,373 (GRCm39) |
D318G |
possibly damaging |
Het |
|
| Other mutations in Rlbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02606:Rlbp1
|
APN |
7 |
79,027,037 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1433:Rlbp1
|
UTSW |
7 |
79,033,686 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1434:Rlbp1
|
UTSW |
7 |
79,029,661 (GRCm39) |
splice site |
probably null |
|
|
R1540:Rlbp1
|
UTSW |
7 |
79,029,808 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1716:Rlbp1
|
UTSW |
7 |
79,025,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4987:Rlbp1
|
UTSW |
7 |
79,029,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5228:Rlbp1
|
UTSW |
7 |
79,027,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6227:Rlbp1
|
UTSW |
7 |
79,029,876 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6772:Rlbp1
|
UTSW |
7 |
79,033,798 (GRCm39) |
intron |
probably benign |
|
|
R7086:Rlbp1
|
UTSW |
7 |
79,029,813 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7174:Rlbp1
|
UTSW |
7 |
79,027,090 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7352:Rlbp1
|
UTSW |
7 |
79,031,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7552:Rlbp1
|
UTSW |
7 |
79,029,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8809:Rlbp1
|
UTSW |
7 |
79,025,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8826:Rlbp1
|
UTSW |
7 |
79,027,114 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9251:Rlbp1
|
UTSW |
7 |
79,027,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9322:Rlbp1
|
UTSW |
7 |
79,027,003 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Posted On |
2015-04-16 |
Incidental Mutation