Incidental Mutation 'R9374:Blvrb'
ID 709491
Institutional Source Beutler Lab
Gene Symbol Blvrb
Ensembl Gene ENSMUSG00000040466
Gene Name biliverdin reductase B
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9374 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 27147403-27165406 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 27158786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 62 (D62G)
Ref Sequence ENSEMBL: ENSMUSP00000043092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037399] [ENSMUST00000108357] [ENSMUST00000108358] [ENSMUST00000133750]
AlphaFold Q923D2
Predicted Effect probably benign
Transcript: ENSMUST00000037399
AA Change: D62G

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000043092
Gene: ENSMUSG00000040466
AA Change: D62G

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 benign
Transcript: ENSMUST00000108357
SMART Domains Protein: ENSMUSP00000103994
Gene: ENSMUSG00000040466

DomainStartEndE-ValueType
Pfam:NAD_binding_10 2 105 1.1e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108358
AA Change: D62G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103995
Gene: ENSMUSG00000040466
AA Change: D62G

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 possibly damaging
Transcript: ENSMUST00000133750
AA Change: D62G

PolyPhen 2 Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap21 A T 2: 20,886,397 (GRCm39) V270E probably damaging Het
Ccdc68 T A 18: 70,089,113 (GRCm39) S219T probably damaging Het
Celf2 G A 2: 6,590,886 (GRCm39) T303I possibly damaging Het
Cep290 T C 10: 100,372,729 (GRCm39) S1176P probably damaging Het
Cpeb2 C A 5: 43,391,584 (GRCm39) S260* probably null Het
Dscam A T 16: 96,857,857 (GRCm39) I51N probably benign Het
Erbb4 G A 1: 68,779,642 (GRCm39) Q45* probably null Het
Fam124a T G 14: 62,843,988 (GRCm39) S499A possibly damaging Het
Hipk3 T C 2: 104,301,850 (GRCm39) N114S probably benign Het
Hnrnph3 T C 10: 62,853,957 (GRCm39) M54V probably benign Het
Map7d1 T C 4: 126,127,429 (GRCm39) E720G unknown Het
Mark2 G T 19: 7,263,263 (GRCm39) T201N possibly damaging Het
Mef2c A G 13: 83,810,461 (GRCm39) N371S probably benign Het
Mgst3 T C 1: 167,205,871 (GRCm39) Y36C probably damaging Het
Mtor C T 4: 148,599,397 (GRCm39) R1482C probably damaging Het
Ndst1 G T 18: 60,845,931 (GRCm39) T126K probably damaging Het
Nkain3 C A 4: 20,778,431 (GRCm39) probably benign Het
Obscn T C 11: 58,922,787 (GRCm39) I5850V possibly damaging Het
Or11g1 C T 14: 50,651,625 (GRCm39) S208F probably benign Het
Or5d14 C T 2: 87,880,509 (GRCm39) W153* probably null Het
Or6k4 A T 1: 173,964,885 (GRCm39) T192S probably benign Het
Pbx1 T C 1: 168,258,910 (GRCm39) D55G possibly damaging Het
Pi4ka T C 16: 17,125,574 (GRCm39) E1187G Het
Pkn1 A T 8: 84,404,367 (GRCm39) N543K probably benign Het
Plin1 T C 7: 79,372,544 (GRCm39) N343D probably benign Het
Prpf4 T C 4: 62,336,131 (GRCm39) V286A probably benign Het
Pyroxd2 A G 19: 42,719,756 (GRCm39) probably null Het
Rbpms A G 8: 34,294,173 (GRCm39) F190S possibly damaging Het
Rpl10a T A 17: 28,548,006 (GRCm39) F49Y possibly damaging Het
Slc32a1 A G 2: 158,455,995 (GRCm39) T217A probably damaging Het
Slco6c1 T C 1: 97,055,827 (GRCm39) S25G probably benign Het
Slitrk5 C T 14: 111,916,496 (GRCm39) T40I probably benign Het
Smchd1 T C 17: 71,718,843 (GRCm39) N842S possibly damaging Het
Sorbs1 G A 19: 40,361,923 (GRCm39) R154* probably null Het
Stc2 A G 11: 31,310,332 (GRCm39) S235P probably benign Het
Tcaf2 C T 6: 42,619,728 (GRCm39) A100T probably benign Het
Tcerg1l T C 7: 137,995,998 (GRCm39) D170G possibly damaging Het
Tcf15 T C 2: 151,986,039 (GRCm39) L165P probably damaging Het
Tle5 T C 10: 81,399,988 (GRCm39) V62A probably damaging Het
Tmem200c G T 17: 69,148,682 (GRCm39) G422W probably damaging Het
Tnfsf13b A G 8: 10,085,391 (GRCm39) I294V possibly damaging Het
Tns3 T A 11: 8,442,606 (GRCm39) T586S probably damaging Het
Unc80 A T 1: 66,629,460 (GRCm39) E1319V possibly damaging Het
Vegfc A G 8: 54,622,180 (GRCm39) I221V possibly damaging Het
Vmn1r86 A T 7: 12,836,781 (GRCm39) Y32N possibly damaging Het
Vmn2r111 T A 17: 22,787,859 (GRCm39) L497F probably benign Het
Wdr49 T C 3: 75,230,931 (GRCm39) D577G probably benign Het
Xpo4 A G 14: 57,828,512 (GRCm39) F783L 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
R2377:Blvrb UTSW 7 27,159,024 (GRCm39) missense probably damaging 1.00
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
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'- CTCTCTAGGGTCCTAAACAGTTGC -3'
(R):5'- CCCTCGGACATTACTGTAGTGG -3'

Sequencing Primer
(F):5'- GTCCTAAACAGTTGCCCTGCAG -3'
(R):5'- ACATTACTGTAGTGGGACCTTAGAG -3'
Posted On 2022-04-18