Incidental Mutation 'R1540:Rlbp1'
ID 171659
Institutional Source Beutler Lab
Gene Symbol Rlbp1
Ensembl Gene ENSMUSG00000039194
Gene Name retinaldehyde binding protein 1
Synonyms 3110056M11Rik, CRALBP
MMRRC Submission 039579-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1540 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 79024618-79036796 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 79029808 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 142 (A142T)
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: A142T

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000054545
Gene: ENSMUSG00000039194
AA Change: A142T

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: A142T

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000137143
Gene: ENSMUSG00000039194
AA Change: A142T

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
Predicted Effect probably benign
Transcript: ENSMUST00000205638
Predicted Effect probably damaging
Transcript: ENSMUST00000206162
AA Change: A142T

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000206320
AA Change: A142T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206624
Predicted Effect probably benign
Transcript: ENSMUST00000206695
Meta Mutation Damage Score 0.0997 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.0%
Validation Efficiency 96% (72/75)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl A G 3: 116,574,384 (GRCm39) C767R probably benign Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Ap3d1 A T 10: 80,551,775 (GRCm39) I644N probably benign Het
Asb16 A G 11: 102,163,402 (GRCm39) I131V probably benign Het
Atp6v0a2 C A 5: 124,784,638 (GRCm39) A307D probably damaging Het
C1qtnf1 C T 11: 118,338,749 (GRCm39) H140Y probably benign Het
Cacna1g T A 11: 94,347,865 (GRCm39) D741V probably damaging Het
Caprin2 T A 6: 148,777,969 (GRCm39) T211S probably benign Het
Carmil1 T C 13: 24,283,037 (GRCm39) E89G possibly damaging Het
Casz1 T A 4: 149,027,357 (GRCm39) probably benign Het
Catsperb G A 12: 101,378,589 (GRCm39) R30Q probably benign Het
Ccdc102a A T 8: 95,634,341 (GRCm39) probably null Het
Ccdc110 G T 8: 46,395,362 (GRCm39) E418* probably null Het
Ccdc90b C T 7: 92,231,024 (GRCm39) A210V probably benign Het
Cdadc1 G T 14: 59,823,532 (GRCm39) A320E probably damaging Het
Cdadc1 T A 14: 59,823,541 (GRCm39) Q317L probably damaging Het
Cep170 C A 1: 176,567,498 (GRCm39) W1396L probably damaging Het
Col4a6 T C X: 140,010,854 (GRCm39) T129A probably damaging Het
Ctcfl C T 2: 172,954,141 (GRCm39) D319N probably benign Het
Dclk1 T C 3: 55,385,244 (GRCm39) S45P probably damaging Het
Efcab3 T C 11: 104,999,726 (GRCm39) I5581T probably benign Het
Evi2 T C 11: 79,406,412 (GRCm39) I388V probably benign Het
Fbxl5 A T 5: 43,915,978 (GRCm39) V435E possibly damaging Het
Fig4 A T 10: 41,064,582 (GRCm39) M887K possibly damaging Het
Glt8d1 G A 14: 30,733,549 (GRCm39) V345I probably benign Het
Gm5709 T C 3: 59,526,073 (GRCm39) noncoding transcript Het
Hsp90b1 A G 10: 86,529,906 (GRCm39) F264L probably damaging Het
Id3 A G 4: 135,871,250 (GRCm39) S21G possibly damaging Het
Ighe T A 12: 113,235,066 (GRCm39) N365Y unknown Het
Il17rd T G 14: 26,821,915 (GRCm39) M403R probably damaging Het
Ints10 A G 8: 69,249,365 (GRCm39) probably benign Het
Kcnc4 T A 3: 107,352,743 (GRCm39) probably null Het
Kctd19 A G 8: 106,114,511 (GRCm39) S517P probably damaging Het
Lama5 A G 2: 179,821,944 (GRCm39) F2964L probably benign Het
Lin54 A T 5: 100,628,109 (GRCm39) N31K probably damaging Het
Lrrc8e A G 8: 4,284,990 (GRCm39) K405R probably benign Het
Lyst T A 13: 13,809,686 (GRCm39) M452K possibly damaging Het
Mroh7 A G 4: 106,560,273 (GRCm39) L677P probably benign Het
Mrps27 T A 13: 99,541,558 (GRCm39) F221I probably benign Het
Nhlrc1 C T 13: 47,167,820 (GRCm39) V146M probably damaging Het
Nlrp9b T A 7: 19,782,772 (GRCm39) C895* probably null Het
Nod1 T C 6: 54,920,960 (GRCm39) T453A probably benign Het
Nodal T C 10: 61,258,764 (GRCm39) V67A probably damaging Het
Ntsr1 T C 2: 180,184,440 (GRCm39) L381P probably damaging Het
Or13c25 T C 4: 52,910,996 (GRCm39) D266G probably benign Het
Or2b2b T A 13: 21,858,700 (GRCm39) Q138L probably benign Het
Or9e1 T A 11: 58,732,477 (GRCm39) M179K probably benign Het
P2ry14 T A 3: 59,022,686 (GRCm39) K267M probably benign Het
Pcdh1 T C 18: 38,322,779 (GRCm39) N1018S probably benign Het
Pkn3 G A 2: 29,974,703 (GRCm39) V406I probably damaging Het
Prkcb C T 7: 122,226,916 (GRCm39) T634I probably damaging Het
Psme2b T A 11: 48,836,209 (GRCm39) probably null Het
Ptgfrn A G 3: 100,967,970 (GRCm39) I541T probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ralgapb T C 2: 158,307,746 (GRCm39) V684A probably benign Het
Rbbp5 C T 1: 132,422,020 (GRCm39) R307* probably null Het
Rcor1 T A 12: 111,070,037 (GRCm39) probably benign Het
Rps6ka2 A G 17: 7,560,305 (GRCm39) E581G probably null Het
Sars1 A T 3: 108,340,461 (GRCm39) V155E probably benign Het
Sec31a G C 5: 100,523,178 (GRCm39) P569A probably damaging Het
Selenof A T 3: 144,300,685 (GRCm39) K111* probably null Het
Serpinb7 C T 1: 107,355,998 (GRCm39) A7V possibly damaging Het
Smc4 T A 3: 68,924,105 (GRCm39) Y298N probably damaging Het
Snrpa1 T A 7: 65,720,409 (GRCm39) I204N probably damaging Het
Spry4 T G 18: 38,734,740 (GRCm39) probably benign Het
Tcea2 A G 2: 181,328,751 (GRCm39) N261S possibly damaging Het
Tmem59l A G 8: 70,937,804 (GRCm39) F192S probably benign Het
Tnr T A 1: 159,677,675 (GRCm39) I20N probably damaging Het
Ttll5 C T 12: 85,938,982 (GRCm39) Q427* probably null Het
Vps45 C T 3: 95,955,658 (GRCm39) A111T probably damaging Het
Zfp395 T C 14: 65,630,523 (GRCm39) S358P probably benign Het
Zfp438 A G 18: 5,210,740 (GRCm39) V766A probably benign 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
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
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'- CTGGAAAGATGCTGACTACCTGCC -3'
(R):5'- AATTGCCACAAGAGTTAGGGGACAC -3'

Sequencing Primer
(F):5'- CCTTCCTCCCTCCAAGGAC -3'
(R):5'- GTTCTGTTACACACAGGCAGC -3'
Posted On 2014-04-13