Incidental Mutation 'R2377:Blvrb'
ID 248314
Institutional Source Beutler Lab
Gene Symbol Blvrb
Ensembl Gene ENSMUSG00000040466
Gene Name biliverdin reductase B
Synonyms
MMRRC Submission 040354-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2377 (G1)
Quality Score 203
Status Not validated
Chromosome 7
Chromosomal Location 27147403-27165406 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 27159024 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 94 (I94N)
Ref Sequence ENSEMBL: ENSMUSP00000146130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037399] [ENSMUST00000108357] [ENSMUST00000108358] [ENSMUST00000133750]
AlphaFold Q923D2
Predicted Effect probably damaging
Transcript: ENSMUST00000037399
AA Change: I94N

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000043092
Gene: ENSMUSG00000040466
AA Change: I94N

DomainStartEndE-ValueType
Pfam:Epimerase 6 155 9.1e-9 PFAM
Pfam:NAD_binding_10 6 191 6e-33 PFAM
Pfam:NmrA 6 205 5.8e-12 PFAM
Pfam:3Beta_HSD 7 122 7.6e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108357
AA Change: I8N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103994
Gene: ENSMUSG00000040466
AA Change: I8N

DomainStartEndE-ValueType
Pfam:NAD_binding_10 2 105 1.1e-12 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108358
AA Change: H141Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103995
Gene: ENSMUSG00000040466
AA Change: H141Q

DomainStartEndE-ValueType
Pfam:NmrA 6 84 1.1e-8 PFAM
low complexity region 85 119 N/A INTRINSIC
SCOP:d1hdoa_ 150 246 9e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000133750
AA Change: I94N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153644
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The final step in heme metabolism in mammals is catalyzed by the cytosolic biliverdin reductase enzymes A and B (EC 1.3.1.24).[supplied by OMIM, Jul 2009]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 A G 16: 14,285,787 (GRCm39) D1304G probably damaging Het
Adamts10 C A 17: 33,747,866 (GRCm39) H101N probably damaging Het
Apaf1 T A 10: 90,915,755 (GRCm39) K44N possibly damaging Het
Aqr A T 2: 113,971,421 (GRCm39) N471K possibly damaging Het
Ccdc38 C T 10: 93,409,897 (GRCm39) P239S probably damaging Het
Chst4 T A 8: 110,756,804 (GRCm39) Y270F possibly damaging Het
Col5a1 T C 2: 27,818,189 (GRCm39) F138S unknown Het
Dhx32 G T 7: 133,326,207 (GRCm39) H407N probably damaging Het
Dock3 G A 9: 106,773,090 (GRCm39) P388S probably damaging Het
Fbxo10 A C 4: 45,044,719 (GRCm39) Y639D probably benign Het
Fsip2 A G 2: 82,806,593 (GRCm39) T971A probably benign Het
Gli2 C T 1: 118,764,855 (GRCm39) A1099T possibly damaging Het
Hr C T 14: 70,795,318 (GRCm39) L317F probably damaging Het
Ice1 G A 13: 70,750,899 (GRCm39) A1729V probably damaging Het
Mcc C G 18: 44,652,616 (GRCm39) K269N probably damaging Het
Miga2 T A 2: 30,274,002 (GRCm39) C83* probably null Het
Msl1 A G 11: 98,694,789 (GRCm39) R273G probably damaging Het
Msl3l2 T C 10: 55,991,659 (GRCm39) I128T probably damaging Het
Ntrk1 T A 3: 87,698,714 (GRCm39) D109V possibly damaging Het
Or14j5 A G 17: 38,161,498 (GRCm39) N5S probably damaging Het
Or4b13 A G 2: 90,083,255 (GRCm39) F26L probably damaging Het
Or4f14b A T 2: 111,774,988 (GRCm39) L271Q probably damaging Het
Or5b97 T A 19: 12,878,217 (GRCm39) Y309F possibly damaging Het
Pcmtd2 A G 2: 181,497,072 (GRCm39) probably benign Het
Polr1a T C 6: 71,949,810 (GRCm39) probably null Het
Ptk2b T A 14: 66,409,997 (GRCm39) I452F possibly damaging Het
Rad21 A G 15: 51,831,834 (GRCm39) F416L probably damaging Het
Scn5a A T 9: 119,368,793 (GRCm39) I244N probably damaging Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Tnpo3 A C 6: 29,579,618 (GRCm39) N258K probably benign Het
Uba6 T C 5: 86,272,229 (GRCm39) D789G possibly damaging Het
Vmn1r226 T G 17: 20,907,992 (GRCm39) L75V probably benign Het
Zfp729b A C 13: 67,739,820 (GRCm39) V815G possibly damaging Het
Other mutations in Blvrb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02452:Blvrb APN 7 27,158,765 (GRCm39) missense possibly damaging 0.95
R0729:Blvrb UTSW 7 27,147,555 (GRCm39) missense possibly damaging 0.91
R2364:Blvrb UTSW 7 27,147,558 (GRCm39) missense possibly damaging 0.68
R5021:Blvrb UTSW 7 27,147,543 (GRCm39) start codon destroyed probably benign 0.11
R5374:Blvrb UTSW 7 27,165,271 (GRCm39) missense possibly damaging 0.86
R5607:Blvrb UTSW 7 27,158,894 (GRCm39) missense probably benign 0.01
R5608:Blvrb UTSW 7 27,158,894 (GRCm39) missense probably benign 0.01
R6026:Blvrb UTSW 7 27,162,115 (GRCm39) missense probably damaging 1.00
R6122:Blvrb UTSW 7 27,158,773 (GRCm39) missense possibly damaging 0.90
R6523:Blvrb UTSW 7 27,165,142 (GRCm39) splice site probably null
R7605:Blvrb UTSW 7 27,165,218 (GRCm39) missense probably damaging 1.00
R7888:Blvrb UTSW 7 27,165,159 (GRCm39) missense probably damaging 1.00
R9135:Blvrb UTSW 7 27,165,210 (GRCm39) missense probably damaging 1.00
R9374:Blvrb UTSW 7 27,158,786 (GRCm39) missense probably benign 0.16
R9551:Blvrb UTSW 7 27,158,786 (GRCm39) missense probably benign 0.16
R9552:Blvrb UTSW 7 27,158,786 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- TGGCAACGACCTCAGTACTG -3'
(R):5'- TGAGTTGCAGAATCCAGGG -3'

Sequencing Primer
(F):5'- TCAGTACTGAGCCCCCCCTTTGC -3'
(R):5'- ACACTGCTACGTTCACAGTTGG -3'
Posted On 2014-11-11