Incidental Mutation 'R1433:Rlbp1'
ID 159315
Institutional Source Beutler Lab
Gene Symbol Rlbp1
Ensembl Gene ENSMUSG00000039194
Gene Name retinaldehyde binding protein 1
Synonyms 3110056M11Rik, CRALBP
MMRRC Submission 039488-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1433 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 79024618-79036796 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79033686 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 3 (D3G)
Ref Sequence ENSEMBL: ENSMUSP00000145850 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053718] [ENSMUST00000179243] [ENSMUST00000205442] [ENSMUST00000205638] [ENSMUST00000206162] [ENSMUST00000206320] [ENSMUST00000206695]
AlphaFold Q9Z275
Predicted Effect probably benign
Transcript: ENSMUST00000053718
AA Change: D3G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000054545
Gene: ENSMUSG00000039194
AA Change: D3G

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 benign
Transcript: ENSMUST00000179243
AA Change: D3G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137143
Gene: ENSMUSG00000039194
AA Change: D3G

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 benign
Transcript: ENSMUST00000205442
AA Change: D3G

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000205638
AA Change: D3G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000206162
AA Change: D3G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000206320
AA Change: D3G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect unknown
Transcript: ENSMUST00000206695
AA Change: D3G
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.8%
  • 20x: 87.9%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp1 C T 12: 30,945,934 (GRCm39) E140K possibly damaging Het
Acsm4 T A 7: 119,293,042 (GRCm39) D57E probably damaging Het
Adamts9 A G 6: 92,826,271 (GRCm39) probably null Het
Aen T A 7: 78,557,060 (GRCm39) Y303N probably damaging Het
Alcam T C 16: 52,116,115 (GRCm39) probably null Het
Apol7b A G 15: 77,309,746 (GRCm39) L17P probably damaging Het
Cacna1c A T 6: 118,629,754 (GRCm39) Y1058* probably null Het
Camk2d T C 3: 126,601,873 (GRCm39) V354A probably benign Het
Carf T G 1: 60,164,017 (GRCm39) M43R probably damaging Het
Casp8 T A 1: 58,863,283 (GRCm39) F81Y probably damaging Het
Cd74 G A 18: 60,937,064 (GRCm39) R20H probably benign Het
Cers5 A T 15: 99,643,812 (GRCm39) Y16* probably null Het
Chuk A T 19: 44,067,397 (GRCm39) M586K probably null Het
D130043K22Rik C A 13: 25,055,324 (GRCm39) P496Q probably damaging Het
Dab2 A G 15: 6,459,419 (GRCm39) R311G probably damaging Het
Depp1 A T 6: 116,629,223 (GRCm39) S189C possibly damaging Het
Diaph1 A T 18: 38,038,187 (GRCm39) I48N unknown Het
Dnajc13 T C 9: 104,057,320 (GRCm39) D1560G probably damaging Het
Dsg2 T C 18: 20,715,780 (GRCm39) S241P probably damaging Het
Efcab5 T C 11: 76,996,204 (GRCm39) D1119G probably benign Het
Efr3a G T 15: 65,740,906 (GRCm39) probably benign Het
Evc2 A G 5: 37,550,427 (GRCm39) K814E probably damaging Het
Hic2 A G 16: 17,076,686 (GRCm39) D505G probably benign Het
Ing1 T A 8: 11,607,010 (GRCm39) V34D probably damaging Het
Inpp5k A G 11: 75,528,317 (GRCm39) M172V probably benign Het
Itgae T C 11: 73,006,418 (GRCm39) V362A probably damaging Het
Lama2 T A 10: 27,063,750 (GRCm39) R1346S probably damaging Het
Lrrc7 T C 3: 157,882,943 (GRCm39) N450S probably damaging Het
Lrrn3 T A 12: 41,502,583 (GRCm39) Y578F possibly damaging Het
Maml2 A T 9: 13,617,797 (GRCm39) N381I probably damaging Het
Mettl15 T G 2: 108,923,266 (GRCm39) E385D probably benign Het
Mthfr T A 4: 148,139,900 (GRCm39) I623N possibly damaging Het
Muc4 A C 16: 32,574,448 (GRCm39) N966T probably benign Het
Myoc A G 1: 162,476,565 (GRCm39) Y423C probably damaging Het
Ncoa2 A T 1: 13,218,602 (GRCm39) M1409K probably benign Het
Ncor2 T C 5: 125,187,039 (GRCm39) probably benign Het
Numb T C 12: 83,844,033 (GRCm39) E395G probably damaging Het
Oas1g A G 5: 121,020,012 (GRCm39) F198S probably damaging Het
Or2b28 T C 13: 21,531,194 (GRCm39) V32A probably benign Het
Or5k17 A G 16: 58,746,049 (GRCm39) V295A probably benign Het
Prdm13 T A 4: 21,678,909 (GRCm39) Y527F probably damaging Het
Prr14l A G 5: 32,986,177 (GRCm39) L1106P probably damaging Het
Ptbp1 T A 10: 79,699,107 (GRCm39) I555N probably damaging Het
Ptchd4 A T 17: 42,814,606 (GRCm39) T836S possibly damaging Het
Sdk2 T C 11: 113,685,871 (GRCm39) E1883G probably damaging Het
Serpinc1 A T 1: 160,820,974 (GRCm39) K140N probably damaging Het
Serpind1 A T 16: 17,160,249 (GRCm39) Y382F probably damaging Het
Slc28a3 T C 13: 58,710,920 (GRCm39) E534G probably damaging Het
Slco1a7 A G 6: 141,711,429 (GRCm39) M94T probably benign Het
Ttyh2 T A 11: 114,601,005 (GRCm39) I418N probably benign Het
Tubgcp4 C T 2: 121,005,905 (GRCm39) Q98* probably null Het
Ugt2a2 A G 5: 87,611,965 (GRCm39) L315P probably damaging Het
Vwa1 A T 4: 155,857,358 (GRCm39) S147T probably damaging Het
Xylt1 T C 7: 117,191,179 (GRCm39) V325A possibly damaging Het
Zfp335 T C 2: 164,741,376 (GRCm39) H685R probably damaging Het
Other mutations in Rlbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02435:Rlbp1 APN 7 79,031,414 (GRCm39) missense probably damaging 1.00
IGL02606:Rlbp1 APN 7 79,027,037 (GRCm39) missense possibly damaging 0.70
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
Predicted Primers PCR Primer
(F):5'- TCTTCAGGAACCATGCGGAAAGTG -3'
(R):5'- GCAGTGTTCCCAAAGTATAGCCCAG -3'

Sequencing Primer
(F):5'- ATGCGGAAAGTGCCCAC -3'
(R):5'- CAAGTCCTTCAGAGCTAGGTAG -3'
Posted On 2014-03-14