Incidental Mutation 'R2117:Blvra'
ID 231034
Institutional Source Beutler Lab
Gene Symbol Blvra
Ensembl Gene ENSMUSG00000001999
Gene Name biliverdin reductase A
Synonyms 0610006A11Rik, 2500001N03Rik, Blvr
MMRRC Submission 040121-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R2117 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 126912585-126939004 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 126927989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 80 (E80*)
Ref Sequence ENSEMBL: ENSMUSP00000116825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002064] [ENSMUST00000110389] [ENSMUST00000135529] [ENSMUST00000142737]
AlphaFold Q9CY64
Predicted Effect probably null
Transcript: ENSMUST00000002064
AA Change: E80*
SMART Domains Protein: ENSMUSP00000002064
Gene: ENSMUSG00000001999
AA Change: E80*

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
AA Change: E80*
SMART Domains Protein: ENSMUSP00000106019
Gene: ENSMUSG00000001999
AA Change: E80*

DomainStartEndE-ValueType
Pfam:GFO_IDH_MocA 9 123 9.7e-22 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000135529
AA Change: E80*
SMART Domains Protein: ENSMUSP00000118278
Gene: ENSMUSG00000001999
AA Change: E80*

DomainStartEndE-ValueType
Pfam:GFO_IDH_MocA 9 123 1e-22 PFAM
transmembrane domain 125 147 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000142737
AA Change: E80*
SMART Domains Protein: ENSMUSP00000116825
Gene: ENSMUSG00000001999
AA Change: E80*

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: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
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: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,640,656 (GRCm39) C3357S probably benign Het
Ago1 T A 4: 126,357,650 (GRCm39) probably null Het
Akap10 A T 11: 61,781,129 (GRCm39) D562E possibly damaging Het
Akr1b7 G A 6: 34,395,929 (GRCm39) A144T possibly damaging Het
Ankle1 A G 8: 71,860,562 (GRCm39) T340A probably benign Het
Arf5 C T 6: 28,424,783 (GRCm39) Q71* probably null Het
Arl15 C T 13: 114,104,196 (GRCm39) S111F probably damaging Het
Asph G A 4: 9,517,671 (GRCm39) Q468* probably null Het
Bcam G T 7: 19,492,352 (GRCm39) A581E possibly damaging Het
Ccr6 T C 17: 8,474,914 (GRCm39) F40L possibly damaging Het
Cfap161 A T 7: 83,425,184 (GRCm39) N302K possibly damaging Het
Ckmt2 T A 13: 92,003,964 (GRCm39) I345F probably benign Het
Cpsf6 A G 10: 117,202,025 (GRCm39) probably benign Het
Ctnna1 A G 18: 35,285,678 (GRCm39) N8S possibly damaging Het
Cyp2d11 A G 15: 82,275,954 (GRCm39) L209P probably damaging Het
Dab2 T C 15: 6,465,096 (GRCm39) V628A probably damaging Het
Dcstamp C T 15: 39,618,571 (GRCm39) Q327* probably null Het
Defb38 A T 8: 19,073,483 (GRCm39) Y63* probably null Het
Dlg5 A T 14: 24,227,826 (GRCm39) L365* probably null Het
Dnai7 C T 6: 145,150,967 (GRCm39) probably null Het
Dnmt3l C A 10: 77,899,130 (GRCm39) L110I probably damaging Het
Exoc3l2 G T 7: 19,228,907 (GRCm39) L108F possibly damaging Het
Exoc4 T A 6: 33,324,760 (GRCm39) N351K possibly damaging Het
Fam83h C A 15: 75,876,582 (GRCm39) E252* probably null Het
Fancm A G 12: 65,123,948 (GRCm39) D202G probably damaging Het
Fat1 T A 8: 45,490,500 (GRCm39) V3804E probably benign Het
Fbxw28 T C 9: 109,159,985 (GRCm39) T190A probably benign Het
Fer1l4 T C 2: 155,881,038 (GRCm39) T843A probably benign Het
Fnip1 A T 11: 54,391,450 (GRCm39) H461L probably damaging Het
Gcn1 A T 5: 115,736,884 (GRCm39) M1276L probably benign Het
Gemin4 A G 11: 76,101,827 (GRCm39) V978A possibly damaging Het
Gm7247 A T 14: 51,602,792 (GRCm39) I43F probably damaging Het
Gm9978 C T 10: 78,322,731 (GRCm39) noncoding transcript Het
Gpr4 T C 7: 18,957,070 (GRCm39) S331P probably damaging Het
Hspa1a T A 17: 35,189,455 (GRCm39) N483Y probably damaging Het
Ift74 A G 4: 94,515,496 (GRCm39) T138A probably benign Het
Ints14 T G 9: 64,887,077 (GRCm39) L336R probably damaging Het
Irak1 G T X: 73,066,218 (GRCm39) P197Q possibly damaging Het
Kif4 A G X: 99,709,323 (GRCm39) S315G probably benign Het
L3mbtl1 T A 2: 162,801,990 (GRCm39) probably null Het
Lamb3 A G 1: 193,016,489 (GRCm39) R657G probably benign Het
Ldc1 C A 4: 130,109,156 (GRCm39) V295L possibly damaging Het
Lrp2 A C 2: 69,313,729 (GRCm39) V2334G probably benign Het
Lrwd1 T A 5: 136,159,332 (GRCm39) Y431F probably damaging Het
Map3k21 A T 8: 126,650,781 (GRCm39) H261L probably benign Het
Meis1 G T 11: 18,831,679 (GRCm39) P453Q probably damaging Het
Mettl16 G T 11: 74,693,755 (GRCm39) M255I probably benign Het
Mllt10 A G 2: 18,167,380 (GRCm39) N435S probably benign Het
Mta2 T C 19: 8,920,880 (GRCm39) I27T probably damaging Het
Nav2 A G 7: 49,114,328 (GRCm39) I771V probably benign Het
Nisch A T 14: 30,899,242 (GRCm39) probably benign Het
Npc1 G A 18: 12,329,613 (GRCm39) P990L probably damaging Het
Nrxn1 A T 17: 91,011,705 (GRCm39) I308K probably damaging Het
Or13l2 C A 3: 97,317,765 (GRCm39) C244F probably damaging Het
Or1ad6 A T 11: 50,860,147 (GRCm39) I101F probably damaging Het
Or5h17 T C 16: 58,820,783 (GRCm39) L245P possibly damaging Het
Otogl T C 10: 107,694,779 (GRCm39) D823G probably benign Het
P2rx7 A G 5: 122,819,329 (GRCm39) T584A probably benign Het
Pals1 T C 12: 78,856,696 (GRCm39) F180L possibly damaging Het
Pank1 T A 19: 34,818,486 (GRCm39) I18F probably damaging Het
Pgap3 A G 11: 98,281,933 (GRCm39) L126P probably damaging Het
Pgap6 C T 17: 26,336,858 (GRCm39) L259F possibly damaging Het
Phka1 C T X: 101,653,807 (GRCm39) R290H probably damaging Het
Pkd2 G A 5: 104,631,042 (GRCm39) E489K probably damaging Het
Prdm16 T A 4: 154,432,382 (GRCm39) S296C probably null Het
Prex2 T A 1: 11,256,937 (GRCm39) N1216K probably damaging Het
Prmt7 A G 8: 106,953,930 (GRCm39) T124A probably damaging Het
Ptpra G T 2: 130,381,655 (GRCm39) R372L probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rap2b G T 3: 61,272,512 (GRCm39) G12V probably damaging Het
Rapgef5 T A 12: 117,677,799 (GRCm39) probably null Het
Rassf4 A G 6: 116,622,088 (GRCm39) F168S possibly damaging Het
Rtf1 T A 2: 119,535,999 (GRCm39) H184Q probably benign Het
Sacs A G 14: 61,451,220 (GRCm39) K4422R probably benign Het
Sec11c A T 18: 65,933,720 (GRCm39) T9S probably benign Het
Sema3d C T 5: 12,613,240 (GRCm39) T439I probably benign Het
Sephs1 A G 2: 4,904,351 (GRCm39) N243S probably benign Het
Setd2 TTGGGA T 9: 110,433,212 (GRCm39) probably null Het
Setx A G 2: 29,020,313 (GRCm39) D100G probably benign Het
Slc22a7 C A 17: 46,744,898 (GRCm39) V383L possibly damaging Het
Slc25a40 T C 5: 8,480,417 (GRCm39) C56R probably damaging Het
Stk38l T A 6: 146,670,344 (GRCm39) L229I probably damaging Het
Sult2a5 T C 7: 13,359,359 (GRCm39) S112P probably damaging Het
Syt4 A G 18: 31,573,520 (GRCm39) Y332H probably damaging Het
Tcof1 T C 18: 60,965,857 (GRCm39) E415G possibly damaging Het
Tenm2 A G 11: 35,915,681 (GRCm39) L1951P probably damaging Het
Tlr9 A G 9: 106,102,536 (GRCm39) N609S probably damaging Het
Tmem120a A T 5: 135,764,977 (GRCm39) S266T possibly damaging Het
Tmem132b A G 5: 125,699,615 (GRCm39) E92G probably damaging Het
Tnfrsf18 T A 4: 156,112,973 (GRCm39) V196E probably damaging Het
Trpc1 A T 9: 95,599,637 (GRCm39) L474H probably damaging Het
Trpm6 T C 19: 18,807,316 (GRCm39) V1020A probably damaging Het
Usp20 T A 2: 30,906,317 (GRCm39) C562S probably damaging Het
Usp47 T A 7: 111,666,443 (GRCm39) probably null Het
Vgll1 A C X: 56,137,790 (GRCm39) K53T probably damaging Het
Vmn1r26 T C 6: 57,985,335 (GRCm39) N285D possibly damaging Het
Zfp445 T A 9: 122,682,502 (GRCm39) K480* probably null Het
Zfp786 A G 6: 47,803,931 (GRCm39) V37A probably damaging Het
Zfp821 A G 8: 110,447,851 (GRCm39) E64G probably damaging Het
Zfp994 T A 17: 22,419,962 (GRCm39) D329V probably damaging Het
Zkscan8 T C 13: 21,704,488 (GRCm39) S484G 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
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
R4533:Blvra UTSW 2 126,932,304 (GRCm39) splice site probably null
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'- AAGCCTTGGCTCTGTCTACC -3'
(R):5'- TTACGTACAGTATAGTTCCTGCAG -3'

Sequencing Primer
(F):5'- CATTACAGATGGTTGTGAGCCAC -3'
(R):5'- GGGCATCAGATCCCATTACAGATG -3'
Posted On 2014-09-18