Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00736:Adarb1'

8583

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adarb1

Ensembl Gene

ENSMUSG00000020262

Gene Name

adenosine deaminase, RNA-specific, B1

Synonyms

RED1, D10Bwg0447e, ADAR2, 1700057H01Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00736

Quality Score

Status

Chromosome

Chromosomal Location

77290726-77418270 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77322490 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 41 (L41P)

Ref Sequence

ENSEMBL: ENSMUSP00000101046 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020496] [ENSMUST00000098374] [ENSMUST00000105404] [ENSMUST00000105406] [ENSMUST00000126073] [ENSMUST00000144547]

AlphaFold

Q91ZS8

Predicted Effect

probably damaging
Transcript: ENSMUST00000020496
AA Change: L41P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020496
Gene: ENSMUSG00000020262
AA Change: L41P

Domain	Start	End	E-Value	Type
DSRM	79	143	1.9e-22	SMART
low complexity region	192	213	N/A	INTRINSIC
low complexity region	220	231	N/A	INTRINSIC
DSRM	236	297	5.8e-21	SMART
ADEAMc	322	698	2.1e-196	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000098374
AA Change: L41P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095976
Gene: ENSMUSG00000020262
AA Change: L41P

Domain	Start	End	E-Value	Type
DSRM	79	143	3.31e-20	SMART
low complexity region	192	213	N/A	INTRINSIC
low complexity region	220	231	N/A	INTRINSIC
DSRM	236	297	9.87e-19	SMART
ADEAMc	322	708	1.32e-191	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000105404
AA Change: S57P

Predicted Effect

probably damaging
Transcript: ENSMUST00000105406
AA Change: L41P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101046
Gene: ENSMUSG00000020262
AA Change: L41P

Domain	Start	End	E-Value	Type
DSRM	79	143	3.31e-20	SMART
low complexity region	192	213	N/A	INTRINSIC
low complexity region	220	231	N/A	INTRINSIC
DSRM	236	297	9.87e-19	SMART
ADEAMc	322	708	1.32e-191	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126073

Predicted Effect

unknown
Transcript: ENSMUST00000144547
AA Change: S57P

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146319

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149738

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150227

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150512

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154607

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156583

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a double-stranded-RNA-specific adenosine deaminase that is involved in editing pre-mRNAs by site-specific conversion of adenosine (A) to inosine (I). Substrates for this enzyme include ionotropic glutamate receptors (GluR2-6) and serotonin receptor (5HT2C). Studies in rodents have shown that this protein can modify its own pre-mRNA by A->I editing to create a novel acceptor splice site, alternative splicing to which results in down regulation of its protein expression. Additional splicing events result in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in progressive seizure susceptibility and death within 20 days of age. Mice homozygous for a conditional allele activated in neurons exhibit motor neuron degeneration, motor function abnormalities, and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Baz1b	A	G	5: 135,240,032	Y1245C	probably damaging	Het
Dnajb7	T	A	15: 81,407,573	I188F	probably benign	Het
Dpf1	A	T	7: 29,312,908	K18*	probably null	Het
Drosha	T	A	15: 12,833,959	Y50N	unknown	Het
Eif2s1	T	A	12: 78,884,837		probably benign	Het
Gde1	T	C	7: 118,698,702	E97G	probably damaging	Het
Lrrc8c	G	A	5: 105,607,114	V252M	probably damaging	Het
Megf10	G	A	18: 57,292,710	R1056Q	probably benign	Het
Myo3b	A	C	2: 70,105,645		probably benign	Het
Ralbp1	T	C	17: 65,864,723	Y85C	probably damaging	Het
Serpini2	C	T	3: 75,267,809	M58I	possibly damaging	Het
Skor1	C	A	9: 63,139,538	Q892H	probably damaging	Het
Slc22a26	T	C	19: 7,790,162	Q292R	possibly damaging	Het
Smc1b	T	C	15: 85,129,700	E90G	possibly damaging	Het
Zmym2	T	C	14: 56,903,211	V169A	probably benign	Het

Other mutations in Adarb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01996:Adarb1	APN	10	77322217	missense	probably damaging	1.00
IGL02173:Adarb1	APN	10	77321825	missense	probably damaging	1.00
IGL02214:Adarb1	APN	10	77322301	missense	probably damaging	0.99
IGL02399:Adarb1	APN	10	77295754	missense	probably benign	0.02
IGL02699:Adarb1	APN	10	77322019	missense	probably benign
IGL02867:Adarb1	APN	10	77313541	missense	probably benign	0.01
IGL02889:Adarb1	APN	10	77313541	missense	probably benign	0.01
IGL03133:Adarb1	APN	10	77325896	start gained	probably benign
R1806:Adarb1	UTSW	10	77322265	missense	probably damaging	0.98
R1834:Adarb1	UTSW	10	77317231	splice site	probably benign
R2174:Adarb1	UTSW	10	77295798	missense	probably benign	0.35
R2233:Adarb1	UTSW	10	77317349	missense	probably damaging	1.00
R2234:Adarb1	UTSW	10	77317349	missense	probably damaging	1.00
R2908:Adarb1	UTSW	10	77313403	critical splice donor site	probably null
R3106:Adarb1	UTSW	10	77321757	missense	probably damaging	1.00
R5104:Adarb1	UTSW	10	77322287	missense	probably damaging	1.00
R5134:Adarb1	UTSW	10	77325845	intron	probably benign
R5497:Adarb1	UTSW	10	77325889	missense	probably damaging	0.96
R5869:Adarb1	UTSW	10	77325616	intron	probably benign
R6168:Adarb1	UTSW	10	77322319	missense	probably damaging	1.00
R7372:Adarb1	UTSW	10	77295878	critical splice acceptor site	probably null
R7575:Adarb1	UTSW	10	77303295	missense	probably damaging	0.99
R7885:Adarb1	UTSW	10	77295708	missense	possibly damaging	0.50
R9227:Adarb1	UTSW	10	77321792	missense	probably damaging	1.00
R9230:Adarb1	UTSW	10	77321792	missense	probably damaging	1.00
R9350:Adarb1	UTSW	10	77322433	missense	possibly damaging	0.91
R9457:Adarb1	UTSW	10	77322148	missense	possibly damaging	0.46
R9688:Adarb1	UTSW	10	77311265	missense	probably damaging	1.00
R9716:Adarb1	UTSW	10	77295705	missense	possibly damaging	0.70

Posted On

2012-12-06