|Institutional Source||Beutler Lab|
|Gene Name||biliverdin reductase A|
|Synonyms||0610006A11Rik, Blvr, 2500001N03Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.090)|
|Stock #||R4620 (G1)|
|Chromosomal Location||127070665-127097084 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 127096965 bp|
|Amino Acid Change||Isoleucine to Threonine at position 287 (I287T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000002064 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000002064] [ENSMUST00000142737]|
|Predicted Effect||probably damaging
AA Change: I287T
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: I287T
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.7671|
|Coding Region Coverage||
|Validation Efficiency||99% (80/81)|
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||
|Other mutations in Blvra||
(F):5'- CACTTCAAATCTGGGTCCTTGG -3'
(R):5'- ACTTCAAGCTGTTCCACAAGAATG -3'
(F):5'- TCCTTGGAGGAAGTGCCAAATG -3'
(R):5'- TATTCCTACAGGATGGCCCCAG -3'