Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02399:Adarb1'

291806

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02399

Quality Score

Status

Chromosome

Chromosomal Location

77290726-77418270 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 77295754 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 624 (P624S)

Ref Sequence

ENSEMBL: ENSMUSP00000020496 (fasta)

Gene Model

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

AlphaFold

Q91ZS8

PDB Structure

Solution NMR structure of the R/G STEM LOOP RNA-ADAR2 DSRBM2 Complex [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000020496
AA Change: P624S

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000020496
Gene: ENSMUSG00000020262
AA Change: P624S

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 benign
Transcript: ENSMUST00000098374
AA Change: P634S

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000095976
Gene: ENSMUSG00000020262
AA Change: P634S

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: ENSMUST00000105404

Predicted Effect

probably benign
Transcript: ENSMUST00000105406
AA Change: P634S

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000101046
Gene: ENSMUSG00000020262
AA Change: P634S

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

probably benign
Transcript: ENSMUST00000144547

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	C	T	2: 150,858,493		probably benign	Het
Afg3l2	A	T	18: 67,429,040	F322I	possibly damaging	Het
Arhgap23	A	G	11: 97,491,005		probably benign	Het
Armc4	G	T	18: 7,285,719	Q215K	probably benign	Het
Atp13a1	A	G	8: 69,807,101	N1114S	probably damaging	Het
C3ar1	T	C	6: 122,849,879	N460D	probably benign	Het
Cacna1e	A	G	1: 154,403,747	Y1988H	probably damaging	Het
Calr	T	C	8: 84,842,786		probably benign	Het
D5Ertd579e	A	G	5: 36,616,185	S289P	probably damaging	Het
Erbb4	G	A	1: 68,042,437		probably benign	Het
Fam98a	A	G	17: 75,538,941		probably benign	Het
Gm3739	A	T	14: 7,299,405	D83E	possibly damaging	Het
Gm5420	A	T	10: 21,691,172		noncoding transcript	Het
Heatr5b	A	G	17: 78,827,967	V245A	probably damaging	Het
Kptn	C	A	7: 16,127,113		probably benign	Het
Llgl2	T	C	11: 115,844,835	C86R	probably damaging	Het
Lrr1	T	A	12: 69,168,891	C12*	probably null	Het
Mcf2	T	C	X: 60,135,452	D255G	probably damaging	Het
Med13	A	T	11: 86,283,945		probably benign	Het
Mthfd1	C	T	12: 76,317,632	T735M	probably damaging	Het
Nlrp2	C	T	7: 5,328,810	A196T	probably damaging	Het
Nnmt	T	C	9: 48,603,538	I60V	probably damaging	Het
Olfr1215	T	A	2: 89,002,163	T42S	probably benign	Het
Olfr522	A	T	7: 140,162,600	S117T	probably benign	Het
P2rx3	T	C	2: 85,023,227	I140V	probably benign	Het
Patj	A	G	4: 98,591,936	N1293D	probably damaging	Het
Pitpnm2	G	A	5: 124,140,758		probably benign	Het
Ppp1r26	T	G	2: 28,453,280	V974G	probably benign	Het
Prrc2b	T	A	2: 32,226,961	L1376*	probably null	Het
Rab33a	T	A	X: 48,519,707	I36N	probably damaging	Het
Rab3gap1	A	T	1: 127,928,103	N493I	possibly damaging	Het
Scara3	C	A	14: 65,933,110	G107*	probably null	Het
Siglec1	T	C	2: 131,071,178	E1606G	probably benign	Het
Skint9	A	T	4: 112,389,250	Y222N	possibly damaging	Het
Slc47a1	A	T	11: 61,363,058	I185N	probably damaging	Het
Slc47a2	C	A	11: 61,302,194		probably benign	Het
Slc4a2	A	G	5: 24,434,713	I506V	probably damaging	Het
Slc9a4	A	C	1: 40,600,782	I245L	probably benign	Het
Smarcb1	T	C	10: 75,897,494	T357A	probably damaging	Het
Spata31d1d	A	G	13: 59,730,140		probably benign	Het
Stox2	T	A	8: 47,186,538	I874F	probably damaging	Het
Taar7b	A	T	10: 24,000,152	I72F	probably damaging	Het
Tacc2	G	A	7: 130,623,399	V605I	probably benign	Het
Tef	T	C	15: 81,815,100	L34P	probably damaging	Het
Trak2	A	G	1: 58,910,045	V532A	probably benign	Het
Usp13	T	A	3: 32,919,060	D795E	probably damaging	Het
Vmn1r32	T	A	6: 66,552,929	I288F	probably benign	Het
Vmn1r75	T	C	7: 11,881,166	I275T	possibly damaging	Het
Zfp871	A	T	17: 32,774,355	F615L	probably benign	Het
Zfp941	G	A	7: 140,812,699	T249M	probably benign	Het
Zhx1	T	C	15: 58,053,741	I370V	probably damaging	Het

Other mutations in Adarb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00736:Adarb1	APN	10	77322490	missense	probably damaging	1.00
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
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

Posted On

2015-04-16