Mutagenetix > Incidental Mutation

Incidental Mutation 'R5497:Adarb1'

432427

Institutional Source

Beutler Lab

Gene Symbol

Adarb1

Ensembl Gene

ENSMUSG00000020262

Gene Name

adenosine deaminase, RNA-specific, B1

Synonyms

RED1, D10Bwg0447e, ADAR2, 1700057H01Rik

MMRRC Submission

043058-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5497 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77290726-77418270 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77325889 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 2 (D2G)

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: D2G

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000020496
Gene: ENSMUSG00000020262
AA Change: D2G

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: D2G

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000095976
Gene: ENSMUSG00000020262
AA Change: D2G

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: D2G

Predicted Effect

probably damaging
Transcript: ENSMUST00000105406
AA Change: D2G

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101046
Gene: ENSMUSG00000020262
AA Change: D2G

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: ENSMUST00000126073
AA Change: D2G

Predicted Effect

unknown
Transcript: ENSMUST00000144547
AA Change: D2G

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

1x: 98.3%
3x: 97.3%
10x: 95.3%
20x: 91.2%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	T	11: 72,165,534	M800K	probably benign	Het
Abca9	G	A	11: 110,130,692	A1064V	probably damaging	Het
Acsm2	A	T	7: 119,573,320	T129S	possibly damaging	Het
Adamts9	A	T	6: 92,854,365	C755S	probably damaging	Het
Apaf1	G	A	10: 90,999,656	A1098V	probably damaging	Het
Asap3	A	G	4: 136,239,222	H537R	probably benign	Het
Atp2a2	C	T	5: 122,458,169	C887Y	probably damaging	Het
Atp6v0a1	G	A	11: 101,029,185	V215M	probably damaging	Het
Cacng8	A	G	7: 3,415,553	E407G	probably benign	Het
Capn8	G	A	1: 182,620,180	E535K	probably benign	Het
Cebpe	A	G	14: 54,710,595	F264L	probably benign	Het
Ces1c	A	C	8: 93,130,715	N79K	possibly damaging	Het
Cfap58	T	G	19: 48,029,109	S803A	probably benign	Het
Cpa1	A	G	6: 30,640,730	T124A	probably benign	Het
Csmd1	A	G	8: 16,085,181	S1654P	probably benign	Het
Dmbt1	A	T	7: 131,063,403		probably benign	Het
Eif3e	T	C	15: 43,270,970	Y127C	probably damaging	Het
Fam160b1	G	C	19: 57,381,151		probably null	Het
Galnt5	T	C	2: 58,025,328	M632T	probably damaging	Het
Gja8	A	G	3: 96,920,197	S50P	probably damaging	Het
Gon7	A	G	12: 102,754,104	S90P	probably benign	Het
Gucy2g	C	T	19: 55,198,701	V1096I	probably benign	Het
Gxylt2	A	G	6: 100,787,329	N325S	probably benign	Het
H2-Ob	A	G	17: 34,241,170	D85G	probably benign	Het
Heatr1	T	A	13: 12,421,064	I1161N	possibly damaging	Het
Hjurp	G	A	1: 88,266,320	H289Y	possibly damaging	Het
Hsd3b7	A	G	7: 127,801,888	Y99C	probably damaging	Het
Ifnar1	T	G	16: 91,505,364	Y21D	probably benign	Het
Isoc2b	C	T	7: 4,850,783	V131I	probably benign	Het
Klc3	T	C	7: 19,394,670	I500V	probably benign	Het
Lrp5	C	A	19: 3,602,319	G1184W	probably damaging	Het
Map2k4	A	G	11: 65,735,205	I136T	probably damaging	Het
Map3k7	T	C	4: 31,991,719	F319S	possibly damaging	Het
Muc5ac	A	G	7: 141,807,643	T1564A	probably damaging	Het
Nptx2	A	T	5: 144,556,189	D362V	probably damaging	Het
Nutf2-ps1	A	T	19: 53,588,834	I52N	probably damaging	Het
Olfr169	C	T	16: 19,566,330	M184I	probably benign	Het
Pkhd1	T	A	1: 20,377,404	Y2255F	possibly damaging	Het
Primpol	A	T	8: 46,592,622	Y308*	probably null	Het
Retreg2	G	A	1: 75,144,989	V219I	probably damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rph3a	T	A	5: 120,942,190	E675V	probably benign	Het
Ryr2	A	T	13: 11,705,701	M2687K	probably null	Het
Shank2	A	G	7: 144,409,534	D293G	probably damaging	Het
Snx6	A	G	12: 54,757,061	V154A	probably damaging	Het
Srm	G	T	4: 148,594,109	Q264H	probably benign	Het
Styk1	A	T	6: 131,304,707	I316N	probably damaging	Het
Syne2	A	G	12: 75,880,389	N103S	probably benign	Het
Tas2r105	G	A	6: 131,686,842		probably null	Het
Tbcel	T	A	9: 42,451,745	M1L	possibly damaging	Het
Tlr3	C	T	8: 45,398,814	D349N	possibly damaging	Het
Tm9sf3	T	C	19: 41,215,116	S574G	probably benign	Het
Usp31	A	T	7: 121,651,601	V783E	probably damaging	Het
Vmn2r61	T	A	7: 42,275,482	Y487N	possibly damaging	Het
Vps51	T	G	19: 6,071,033	E283D	probably benign	Het
Zfp980	A	G	4: 145,701,447	K249E	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
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
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

Predicted Primers

PCR Primer
(F):5'- AAAACTCTAGATAGGTGGCTGTAAG -3'
(R):5'- ATTCCTTCTCAGATGGCAGGC -3'

Sequencing Primer
(F):5'- CCACAGTAAATATTGAAGCCTGG -3'
(R):5'- TCAGATGGCAGGCTCCTTACAG -3'

Posted On

2016-10-05