Mutagenetix > Incidental Mutation

Incidental Mutation 'R2122:Blvra'

229548

Institutional Source

Beutler Lab

Gene Symbol

Blvra

Ensembl Gene

ENSMUSG00000001999

Gene Name

biliverdin reductase A

Synonyms

0610006A11Rik, 2500001N03Rik, Blvr

MMRRC Submission

040126-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R2122 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126912585-126939004 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 126928817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 102 (S102A)

Ref Sequence

ENSEMBL: ENSMUSP00000118278 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002064] [ENSMUST00000110389] [ENSMUST00000135529] [ENSMUST00000142737]

AlphaFold

Q9CY64

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002064
AA Change: S102A

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000002064
Gene: ENSMUSG00000001999
AA Change: S102A

Domain	Start	End	E-Value	Type
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: S102A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106019
Gene: ENSMUSG00000001999
AA Change: S102A

Domain	Start	End	E-Value	Type
Pfam:GFO_IDH_MocA	9	123	9.7e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000135529
AA Change: S102A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118278
Gene: ENSMUSG00000001999
AA Change: S102A

Domain	Start	End	E-Value	Type
Pfam:GFO_IDH_MocA	9	123	1e-22	PFAM
transmembrane domain	125	147	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142737
AA Change: S102A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000116825
Gene: ENSMUSG00000001999
AA Change: S102A

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	T	7: 120,119,184 (GRCm39)	G975V	probably damaging	Het
Abcg5	T	A	17: 84,978,575 (GRCm39)	E294D	probably benign	Het
Actl10	G	A	2: 154,394,153 (GRCm39)	R35H	probably damaging	Het
Adamts12	C	T	15: 11,310,665 (GRCm39)	T974I	probably damaging	Het
Ahctf1	C	A	1: 179,597,017 (GRCm39)	R43L	probably damaging	Het
Arhgef10	A	G	8: 14,984,820 (GRCm39)	D200G	probably damaging	Het
Arhgef38	T	C	3: 132,866,514 (GRCm39)	K208E	probably benign	Het
Arhgef7	A	T	8: 11,778,256 (GRCm39)	N2I	possibly damaging	Het
Btn1a1	A	G	13: 23,645,691 (GRCm39)	L226P	probably damaging	Het
C2cd4d	G	T	3: 94,270,925 (GRCm39)	E64*	probably null	Het
Ccna2	A	G	3: 36,622,875 (GRCm39)	V209A	probably damaging	Het
Cd55	T	A	1: 130,387,354 (GRCm39)	D148V	possibly damaging	Het
Cdh2	G	A	18: 16,907,600 (GRCm39)	P46L	probably benign	Het
Cldn11	A	G	3: 31,217,300 (GRCm39)	Y156C	probably damaging	Het
Cmtm2a	T	C	8: 105,019,655 (GRCm39)	R12G	possibly damaging	Het
Cog2	T	C	8: 125,255,724 (GRCm39)	S104P	possibly damaging	Het
Col4a3	T	G	1: 82,632,678 (GRCm39)	F184V	unknown	Het
Col4a4	T	A	1: 82,434,592 (GRCm39)	D1406V	unknown	Het
Col6a1	T	C	10: 76,557,332 (GRCm39)	T207A	probably benign	Het
Cyp2a12	A	G	7: 26,736,071 (GRCm39)	*493W	probably null	Het
Dcdc2a	T	G	13: 25,303,268 (GRCm39)	S266R	possibly damaging	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Ecel1	A	G	1: 87,075,997 (GRCm39)	S727P	probably damaging	Het
Eif2ak4	T	A	2: 118,286,274 (GRCm39)	V1063E	probably damaging	Het
Enpp2	A	T	15: 54,761,188 (GRCm39)	Y44*	probably null	Het
Ep400	A	T	5: 110,856,716 (GRCm39)		probably benign	Het
Exoc6b	A	G	6: 84,598,464 (GRCm39)	M779T	probably benign	Het
F13a1	T	A	13: 37,209,653 (GRCm39)	Y104F	probably benign	Het
Fam78b	G	A	1: 166,906,278 (GRCm39)	V146M	probably damaging	Het
Fgf18	A	C	11: 33,068,003 (GRCm39)	F129C	probably damaging	Het
Fscn3	A	G	6: 28,430,388 (GRCm39)	D186G	probably benign	Het
Gm5773	G	A	3: 93,680,624 (GRCm39)	G99R	possibly damaging	Het
Grk1	A	T	8: 13,455,221 (GRCm39)	Y35F	probably benign	Het
Heatr1	T	C	13: 12,418,145 (GRCm39)	V359A	probably benign	Het
Hfm1	A	G	5: 107,044,121 (GRCm39)	S567P	probably damaging	Het
Il1rap	A	T	16: 26,529,315 (GRCm39)	H379L	probably damaging	Het
Kctd5	T	C	17: 24,274,940 (GRCm39)	T212A	probably benign	Het
Krtap5-5	A	T	7: 141,783,240 (GRCm39)	C137S	unknown	Het
Lrp2	T	C	2: 69,314,051 (GRCm39)	T2227A	probably damaging	Het
Ltbp1	T	A	17: 75,617,154 (GRCm39)	V1031E	possibly damaging	Het
Ltbr	A	G	6: 125,286,440 (GRCm39)	S249P	probably benign	Het
Map1a	T	A	2: 121,129,927 (GRCm39)	Y248N	probably damaging	Het
Mdc1	C	T	17: 36,158,835 (GRCm39)	A405V	probably benign	Het
Mfsd4b1	T	C	10: 39,878,647 (GRCm39)	K417E	possibly damaging	Het
Mroh2a	T	C	1: 88,184,476 (GRCm39)	V1453A	probably benign	Het
Myh11	T	C	16: 14,035,868 (GRCm39)	E1027G	probably damaging	Het
Nudt6	A	C	3: 37,466,554 (GRCm39)	F80L	probably benign	Het
Nxph1	A	G	6: 9,247,791 (GRCm39)	K254R	probably damaging	Het
Obsl1	C	T	1: 75,470,527 (GRCm39)	R1043H	probably benign	Het
Or10a4	A	T	7: 106,697,316 (GRCm39)	I215F	probably damaging	Het
Pde6d	A	G	1: 86,473,524 (GRCm39)	F91L	probably benign	Het
Phldb2	T	A	16: 45,583,304 (GRCm39)	I1065F	probably damaging	Het
Ppp1r3a	A	T	6: 14,721,874 (GRCm39)	N317K	possibly damaging	Het
Psmd1	T	A	1: 86,006,422 (GRCm39)	S263T	possibly damaging	Het
Pum1	C	A	4: 130,396,581 (GRCm39)	T112K	possibly damaging	Het
Rasgrp2	T	A	19: 6,454,425 (GRCm39)	M156K	probably benign	Het
Reg3a	T	C	6: 78,358,119 (GRCm39)	C17R	possibly damaging	Het
Ripor2	A	G	13: 24,897,701 (GRCm39)	S800G	probably damaging	Het
Rnf168	T	G	16: 32,097,036 (GRCm39)	L37R	probably damaging	Het
Rnf31	A	G	14: 55,833,654 (GRCm39)	D554G	probably damaging	Het
Rpe	T	C	1: 66,754,387 (GRCm39)	M153T	probably damaging	Het
Sacs	A	T	14: 61,449,765 (GRCm39)	Q3937L	probably damaging	Het
Sap18	T	A	14: 58,036,011 (GRCm39)	S66T	probably damaging	Het
Slc20a1	T	G	2: 129,041,739 (GRCm39)	I34S	possibly damaging	Het
Slc25a30	A	G	14: 76,007,658 (GRCm39)	S116P	possibly damaging	Het
Speer4c1	T	A	5: 15,919,115 (GRCm39)	D29V	possibly damaging	Het
Stk40	C	T	4: 126,022,640 (GRCm39)	T138I	probably benign	Het
Susd3	A	G	13: 49,384,626 (GRCm39)	Y254H	probably damaging	Het
Tanc2	T	C	11: 105,786,775 (GRCm39)	L858P	probably damaging	Het
Tas2r106	A	T	6: 131,655,317 (GRCm39)	L178H	probably damaging	Het
Tfpt	C	T	7: 3,631,930 (GRCm39)	R60Q	probably damaging	Het
Tmem44	T	A	16: 30,366,262 (GRCm39)	K55*	probably null	Het
Tnfsf9	A	T	17: 57,414,316 (GRCm39)		probably null	Het
Ube3c	T	C	5: 29,824,604 (GRCm39)	I543T	probably benign	Het
Ugt1a2	C	A	1: 88,128,735 (GRCm39)	S126Y	possibly damaging	Het
Vmn1r180	T	A	7: 23,652,566 (GRCm39)	L243Q	probably damaging	Het
Vmn2r15	A	C	5: 109,434,322 (GRCm39)	V794G	probably damaging	Het
Vmn2r24	A	G	6: 123,792,353 (GRCm39)	D560G	possibly damaging	Het
Wdr11	G	A	7: 129,233,490 (GRCm39)	C1028Y	probably damaging	Het
Zfp318	A	G	17: 46,724,297 (GRCm39)	D2100G	probably benign	Het
Zfyve16	A	T	13: 92,655,991 (GRCm39)	Y789*	probably null	Het

Other mutations in Blvra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- CTTGGCTGTTTGTGACACTC -3'
(R):5'- AAAGCTAAGAGTCCACAGGC -3'

Sequencing Primer
(F):5'- TTGTGACACTCGTACACAGG -3'
(R):5'- TAAGAGTCCACAGGCTCCTCTG -3'

Posted On

2014-09-17