Incidental Mutation 'IGL02435:Rlbp1'
ID293244
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rlbp1
Ensembl Gene ENSMUSG00000039194
Gene Nameretinaldehyde binding protein 1
Synonyms3110056M11Rik, CRALBP
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02435
Quality Score
Status
Chromosome7
Chromosomal Location79374870-79387048 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 79381666 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI314180 A G 4: 58,830,325 probably benign Het
Amph A G 13: 19,139,163 probably benign Het
Ankrd12 G T 17: 65,987,156 S427R probably damaging Het
Atp4a A G 7: 30,717,057 T420A probably benign Het
Braf C T 6: 39,646,766 S414N probably benign Het
C1rl T C 6: 124,508,873 L401P probably damaging Het
Elmo1 A T 13: 20,589,656 D612V probably damaging Het
Fbxo15 T C 18: 84,959,226 S88P probably damaging Het
Glrx3 A G 7: 137,461,396 N132S possibly damaging Het
Hamp G T 7: 30,943,899 Q29K probably benign Het
Igfbp2 G A 1: 72,852,086 R281Q probably damaging Het
Itih3 C T 14: 30,915,754 A483T probably damaging Het
Mrc1 C T 2: 14,248,860 Q231* probably null Het
Nif3l1 A G 1: 58,447,861 T69A possibly damaging Het
Ntrk1 A G 3: 87,788,732 F157S probably benign Het
Olfr1245 A G 2: 89,575,546 F60S probably damaging Het
Olfr1447 A T 19: 12,901,027 I251N probably damaging Het
Olfr694 A G 7: 106,689,503 V76A probably benign Het
Pck2 T C 14: 55,544,390 probably benign Het
Pdgfrb T C 18: 61,064,926 probably null Het
Ric8b A G 10: 84,980,076 N194S probably benign Het
Sde2 G T 1: 180,866,152 K402N probably damaging Het
Slc13a3 T C 2: 165,408,940 H461R possibly damaging Het
Spag17 A T 3: 99,982,444 I210F possibly damaging Het
Szt2 G A 4: 118,390,823 R735W probably damaging Het
Tspan6 T C X: 133,892,744 Y186C probably benign Het
Ugt8a A G 3: 125,867,320 S508P probably benign Het
Zfp217 T C 2: 170,119,453 D318G possibly damaging Het
Other mutations in Rlbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02606:Rlbp1 APN 7 79377289 missense possibly damaging 0.70
R1433:Rlbp1 UTSW 7 79383938 missense probably benign 0.05
R1434:Rlbp1 UTSW 7 79379913 unclassified probably null
R1540:Rlbp1 UTSW 7 79380060 missense probably damaging 0.98
R1716:Rlbp1 UTSW 7 79375936 missense probably damaging 1.00
R4987:Rlbp1 UTSW 7 79380131 missense probably damaging 1.00
R5228:Rlbp1 UTSW 7 79377334 missense probably damaging 1.00
R6227:Rlbp1 UTSW 7 79380128 missense probably benign 0.38
R6772:Rlbp1 UTSW 7 79384050 intron probably benign
R7086:Rlbp1 UTSW 7 79380065 missense possibly damaging 0.58
R7174:Rlbp1 UTSW 7 79377342 missense possibly damaging 0.88
R7352:Rlbp1 UTSW 7 79381680 missense probably damaging 1.00
R7552:Rlbp1 UTSW 7 79380113 missense probably damaging 1.00
Posted On2015-04-16