Incidental Mutation 'R9101:Blvra'
ID 691673
Institutional Source Beutler Lab
Gene Symbol Blvra
Ensembl Gene ENSMUSG00000001999
Gene Name biliverdin reductase A
Synonyms 0610006A11Rik, Blvr, 2500001N03Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R9101 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 127070665-127097084 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 127085970 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 47 (L47F)
Ref Sequence ENSEMBL: ENSMUSP00000002064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002064] [ENSMUST00000110389] [ENSMUST00000135529] [ENSMUST00000142737]
AlphaFold Q9CY64
Predicted Effect probably damaging
Transcript: ENSMUST00000002064
AA Change: L47F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000002064
Gene: ENSMUSG00000001999
AA Change: L47F

DomainStartEndE-ValueType
Pfam:GFO_IDH_MocA 9 124 2.1e-22 PFAM
Pfam:Biliv-reduc_cat 132 244 2.6e-55 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110389
AA Change: L47F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106019
Gene: ENSMUSG00000001999
AA Change: L47F

DomainStartEndE-ValueType
Pfam:GFO_IDH_MocA 9 123 9.7e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000135529
AA Change: L47F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118278
Gene: ENSMUSG00000001999
AA Change: L47F

DomainStartEndE-ValueType
Pfam:GFO_IDH_MocA 9 123 1e-22 PFAM
transmembrane domain 125 147 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000142737
AA Change: L47F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116825
Gene: ENSMUSG00000001999
AA Change: L47F

DomainStartEndE-ValueType
Pfam:GFO_IDH_MocA 9 124 4.7e-24 PFAM
Pfam:NAD_binding_3 15 122 1.8e-8 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (59/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the biliverdin reductase family, members of which catalyze the conversion of biliverdin to bilirubin in the presence of NADPH or NADH. Mutations in this gene are associated with hyperbiliverdinemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: This locus controls electrophoretic mobility of biliverdin reductase. The a allele determines a slowly migrating band in C3H/He, C57BL/H and 101/H; the b allele determines a fast band in BALB/c, CBA/Ca, TFH/H and SM/J. Heterozygotes have both parental bands. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900011O08Rik T A 16: 14,049,395 I39N probably damaging Het
AA792892 G A 5: 94,384,040 C261Y probably damaging Het
Adam6b T C 12: 113,491,756 V731A probably benign Het
Adamts7 T C 9: 90,189,741 probably null Het
Afdn T C 17: 13,823,444 V388A probably damaging Het
Alg3 A G 16: 20,608,849 Y113H possibly damaging Het
Aox2 C T 1: 58,332,637 P820L probably benign Het
Avil A G 10: 127,017,004 D731G probably benign Het
Ccdc85c C A 12: 108,274,658 R159L unknown Het
Clcn2 T C 16: 20,707,229 D797G probably benign Het
Cmklr1 G C 5: 113,613,982 H319Q probably benign Het
Dclre1a A T 19: 56,544,306 F619I possibly damaging Het
Dnajb1 C A 8: 83,608,490 D53E probably benign Het
Dnmt1 T C 9: 20,941,543 D89G probably damaging Het
Gck A G 11: 5,906,516 Y214H probably damaging Het
Gm597 T A 1: 28,776,659 D764V probably benign Het
Gm9507 A G 10: 77,811,816 S10P unknown Het
Hacd2 G A 16: 35,099,786 V138I probably benign Het
Hhip A T 8: 80,043,962 V272D probably damaging Het
Hoga1 A C 19: 42,059,908 T72P possibly damaging Het
Idh2 TCCCAGG T 7: 80,098,331 probably benign Het
Kif21b G A 1: 136,151,155 G414S probably damaging Het
Klk5 T A 7: 43,850,781 D264E probably benign Het
Lars G A 18: 42,243,877 R205C probably damaging Het
Ly6a A T 15: 74,997,570 L12Q probably null Het
Marc2 T A 1: 184,822,490 R273W probably null Het
Mastl A G 2: 23,118,437 *866Q probably null Het
Mpzl3 T A 9: 45,070,685 M217K possibly damaging Het
Mroh2b T A 15: 4,900,453 M7K probably benign Het
Nefh A G 11: 4,940,925 S565P probably damaging Het
Nox4 G A 7: 87,376,240 R525Q probably benign Het
Nsd1 C T 13: 55,313,546 L2632F Het
Olfr1022 A G 2: 85,864,179 probably benign Het
Olfr1143 T C 2: 87,802,580 Y60H probably damaging Het
Olfr1243 A T 2: 89,528,377 I11N possibly damaging Het
Olfr43 C T 11: 74,206,496 C240Y probably damaging Het
Olfr550 T C 7: 102,578,930 V145A probably benign Het
Olfr616 A T 7: 103,564,473 F269I possibly damaging Het
Olfr959 T A 9: 39,572,509 Y250F probably benign Het
Pcdhga6 T C 18: 37,708,340 V371A possibly damaging Het
Pdss2 A G 10: 43,393,949 K263E possibly damaging Het
Phf3 C T 1: 30,803,945 A1978T possibly damaging Het
Phykpl C A 11: 51,592,914 T207K probably benign Het
Pkd2 T A 5: 104,480,364 C435S probably damaging Het
Pramef6 T A 4: 143,897,076 N176I probably benign Het
Prkra T A 2: 76,647,840 H6L probably benign Het
Prpf39 A G 12: 65,043,304 K131E probably damaging Het
Prpf40a A G 2: 53,145,243 V762A probably benign Het
Prr27 C T 5: 87,843,471 T314I probably damaging Het
Ptges3 A G 10: 128,072,129 D116G possibly damaging Het
Rab11fip5 G T 6: 85,340,693 F1071L probably benign Het
Rsf1 GCG GCGACGGCGCCG 7: 97,579,907 probably benign Het
Slc45a3 T C 1: 131,977,437 V66A possibly damaging Het
Ten1 A G 11: 116,205,736 Y72C probably damaging Het
Tenm3 A G 8: 48,292,151 L1125S probably damaging Het
Thpo T A 16: 20,725,807 I159F possibly damaging Het
Tmppe T C 9: 114,405,241 S203P probably damaging Het
Ttc23l A T 15: 10,537,575 I203N probably benign Het
Vars2 A G 17: 35,659,088 L803P possibly damaging Het
Vmn2r110 T A 17: 20,574,209 I733F Het
Xxylt1 T C 16: 31,080,927 N137D possibly damaging Het
Zc3h13 G A 14: 75,323,602 R544Q unknown Het
Zfhx4 C T 3: 5,412,138 T3271I probably benign Het
Zfp943 T A 17: 21,993,411 C493S possibly damaging Het
Other mutations in Blvra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03149:Blvra APN 2 127082951 missense probably damaging 1.00
R1084:Blvra UTSW 2 127080653 missense probably benign 0.00
R1932:Blvra UTSW 2 127095148 missense probably damaging 1.00
R2114:Blvra UTSW 2 127086069 nonsense probably null
R2115:Blvra UTSW 2 127086069 nonsense probably null
R2117:Blvra UTSW 2 127086069 nonsense probably null
R2122:Blvra UTSW 2 127086897 missense probably damaging 0.96
R3734:Blvra UTSW 2 127090255 intron probably benign
R3847:Blvra UTSW 2 127095191 missense probably damaging 0.96
R4110:Blvra UTSW 2 127095155 missense probably damaging 1.00
R4533:Blvra UTSW 2 127090384 splice site probably null
R4620:Blvra UTSW 2 127096965 missense probably damaging 1.00
R4702:Blvra UTSW 2 127092062 missense probably benign 0.01
R5921:Blvra UTSW 2 127087363 intron probably benign
R6322:Blvra UTSW 2 127080539 start gained probably benign
R7474:Blvra UTSW 2 127086849 missense probably damaging 1.00
R7486:Blvra UTSW 2 127087323 missense unknown
R8188:Blvra UTSW 2 127095127 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAATAGAAGCCTTGGCTCTGTC -3'
(R):5'- ACGTACAGTATAGTTCCTGCAG -3'

Sequencing Primer
(F):5'- AAGTACACTGTCACTGTCTTCAGAC -3'
(R):5'- GGGCATCAGATCCCATTACAGATG -3'
Posted On 2021-12-30