Incidental Mutation 'R4533:Blvra'
ID 333184
Institutional Source Beutler Lab
Gene Symbol Blvra
Ensembl Gene ENSMUSG00000001999
Gene Name biliverdin reductase A
Synonyms 0610006A11Rik, 2500001N03Rik, Blvr
MMRRC Submission 041773-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R4533 (G1)
Quality Score 134
Status Validated
Chromosome 2
Chromosomal Location 126912585-126939004 bp(+) (GRCm39)
Type of Mutation splice site (35 bp from exon)
DNA Base Change (assembly) T to A at 126932304 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002064] [ENSMUST00000110389] [ENSMUST00000135529] [ENSMUST00000142737]
AlphaFold Q9CY64
Predicted Effect probably benign
Transcript: ENSMUST00000002064
SMART Domains Protein: ENSMUSP00000002064
Gene: ENSMUSG00000001999

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 null
Transcript: ENSMUST00000110389
SMART Domains Protein: ENSMUSP00000106019
Gene: ENSMUSG00000001999

DomainStartEndE-ValueType
Pfam:GFO_IDH_MocA 9 123 9.7e-22 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000135529
SMART Domains Protein: ENSMUSP00000118278
Gene: ENSMUSG00000001999

DomainStartEndE-ValueType
Pfam:GFO_IDH_MocA 9 123 1e-22 PFAM
transmembrane domain 125 147 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142737
SMART Domains Protein: ENSMUSP00000116825
Gene: ENSMUSG00000001999

DomainStartEndE-ValueType
Pfam:GFO_IDH_MocA 9 124 4.7e-24 PFAM
Pfam:NAD_binding_3 15 122 1.8e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142861
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (54/54)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 A G 9: 90,062,761 (GRCm39) Y405C probably damaging Het
Ago3 A T 4: 126,239,356 (GRCm39) S832T probably damaging Het
Akap9 T A 5: 4,093,948 (GRCm39) F2157I probably damaging Het
Anapc5 T C 5: 122,929,798 (GRCm39) E561G possibly damaging Het
Art5 T C 7: 101,747,545 (GRCm39) H78R probably benign Het
Ccdc171 A G 4: 83,575,579 (GRCm39) T488A possibly damaging Het
Crtc3 A T 7: 80,239,543 (GRCm39) M603K probably damaging Het
Csmd1 T C 8: 15,981,037 (GRCm39) probably null Het
Dbh C A 2: 27,067,343 (GRCm39) H409Q possibly damaging Het
Gm12185 T C 11: 48,798,747 (GRCm39) Y582C probably damaging Het
Gm12185 T C 11: 48,798,921 (GRCm39) N524S possibly damaging Het
Gm7356 A C 17: 14,221,672 (GRCm39) I119R probably damaging Het
Heatr1 T A 13: 12,449,392 (GRCm39) D1963E probably benign Het
Ighv1-37 A T 12: 114,860,147 (GRCm39) V21D probably damaging Het
Itga3 T G 11: 94,948,119 (GRCm39) Q602P probably benign Het
Kcmf1 G A 6: 72,826,574 (GRCm39) R152C probably damaging Het
Lin54 T C 5: 100,633,262 (GRCm39) I141V possibly damaging Het
Mast1 T A 8: 85,647,990 (GRCm39) H497L probably damaging Het
Mrpl44 T C 1: 79,753,971 (GRCm39) F41S possibly damaging Het
Myo18b T C 5: 112,840,891 (GRCm39) R2301G probably damaging Het
Nek1 A T 8: 61,460,247 (GRCm39) M58L possibly damaging Het
Or4k15c T C 14: 50,321,156 (GRCm39) probably null Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
P3h3 A G 6: 124,831,371 (GRCm39) V338A possibly damaging Het
Pabir3 G A X: 52,382,376 (GRCm39) R94H possibly damaging Het
Pcdha7 T C 18: 37,108,460 (GRCm39) V495A possibly damaging Het
Plcb3 T C 19: 6,933,640 (GRCm39) E895G probably benign Het
Plekha5 A G 6: 140,516,057 (GRCm39) E770G probably damaging Het
Ptchd3 C T 11: 121,727,257 (GRCm39) S377F probably damaging Het
Ptprj C T 2: 90,270,299 (GRCm39) D1266N probably damaging Het
Raly A T 2: 154,707,853 (GRCm39) E291V probably damaging Het
Rnf217 C A 10: 31,484,759 (GRCm39) C141F possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slc12a3 A G 8: 95,083,714 (GRCm39) M914V probably null Het
Tbc1d9 A G 8: 83,997,547 (GRCm39) T1035A probably damaging Het
Tex14 C T 11: 87,427,655 (GRCm39) R36* probably null Het
Tiparp A G 3: 65,453,768 (GRCm39) D172G probably benign Het
Ttc3 T A 16: 94,267,736 (GRCm39) probably benign Het
Uap1 A T 1: 169,970,994 (GRCm39) I466N probably damaging Het
Ubr1 T C 2: 120,772,963 (GRCm39) T426A possibly damaging Het
Vmn1r77 T A 7: 11,775,756 (GRCm39) H177Q probably benign Het
Vmn2r72 T A 7: 85,401,134 (GRCm39) H95L probably benign Het
Vwc2l G A 1: 70,921,298 (GRCm39) C151Y probably damaging Het
Wdr12 T C 1: 60,117,354 (GRCm39) Y414C probably benign Het
Zfp609 A C 9: 65,610,890 (GRCm39) V691G probably benign Het
Zmiz1 T C 14: 25,646,084 (GRCm39) Y254H probably damaging Het
Other mutations in Blvra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03149:Blvra APN 2 126,924,871 (GRCm39) missense probably damaging 1.00
R1084:Blvra UTSW 2 126,922,573 (GRCm39) missense probably benign 0.00
R1932:Blvra UTSW 2 126,937,068 (GRCm39) missense probably damaging 1.00
R2114:Blvra UTSW 2 126,927,989 (GRCm39) nonsense probably null
R2115:Blvra UTSW 2 126,927,989 (GRCm39) nonsense probably null
R2117:Blvra UTSW 2 126,927,989 (GRCm39) nonsense probably null
R2122:Blvra UTSW 2 126,928,817 (GRCm39) missense probably damaging 0.96
R3734:Blvra UTSW 2 126,932,175 (GRCm39) intron probably benign
R3847:Blvra UTSW 2 126,937,111 (GRCm39) missense probably damaging 0.96
R4110:Blvra UTSW 2 126,937,075 (GRCm39) missense probably damaging 1.00
R4620:Blvra UTSW 2 126,938,885 (GRCm39) missense probably damaging 1.00
R4702:Blvra UTSW 2 126,933,982 (GRCm39) missense probably benign 0.01
R5921:Blvra UTSW 2 126,929,283 (GRCm39) intron probably benign
R6322:Blvra UTSW 2 126,922,459 (GRCm39) start gained probably benign
R7474:Blvra UTSW 2 126,928,769 (GRCm39) missense probably damaging 1.00
R7486:Blvra UTSW 2 126,929,243 (GRCm39) missense unknown
R8188:Blvra UTSW 2 126,937,047 (GRCm39) missense probably damaging 1.00
R9101:Blvra UTSW 2 126,927,890 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTTGCTGCCATGCCTGA -3'
(R):5'- TTCCCTTTGAAGCATCACAAGT -3'

Sequencing Primer
(F):5'- ATGCCTGATGCCTGTAGACTAC -3'
(R):5'- TTCCATCACAGTAGGAGGCATG -3'
Posted On 2015-08-18