Mutagenetix > Incidental Mutation

Incidental Mutation 'R5134:Adarb1'

396057

Institutional Source

Beutler Lab

Gene Symbol

Adarb1

Ensembl Gene

ENSMUSG00000020262

Gene Name

adenosine deaminase, RNA-specific, B1

Synonyms

RED1, D10Bwg0447e, ADAR2, 1700057H01Rik

MMRRC Submission

042722-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5134 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77290726-77418270 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 77325845 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122102 (fasta)

Gene Model

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

AlphaFold

Q91ZS8

Predicted Effect

probably benign
Transcript: ENSMUST00000020496

SMART Domains

Protein: ENSMUSP00000020496
Gene: ENSMUSG00000020262

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

SMART Domains

Protein: ENSMUSP00000095976
Gene: ENSMUSG00000020262

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

SMART Domains

Protein: ENSMUSP00000101046
Gene: ENSMUSG00000020262

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

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: ENSMUST00000156583

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154607

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155117

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

Validation Efficiency

96% (100/104)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
7420426K07Rik	T	C	9: 98,903,740	S153P	probably benign	Het
Adrb3	A	C	8: 27,227,770	M217R	probably damaging	Het
Ank2	A	T	3: 126,963,445	N1054K	possibly damaging	Het
Aox4	A	T	1: 58,236,676	D389V	probably benign	Het
Aph1a	G	T	3: 95,895,531	G148W	probably damaging	Het
Arsj	A	G	3: 126,438,154	D183G	probably benign	Het
Atg2b	A	G	12: 105,674,950	S76P	probably damaging	Het
Atxn7l1	C	A	12: 33,372,876	N815K	probably damaging	Het
Cd3d	A	T	9: 44,984,998	E28D	probably damaging	Het
Cir1	G	A	2: 73,284,503	R404*	probably null	Het
Cops8	A	G	1: 90,611,002	D51G	probably damaging	Het
Csgalnact1	T	C	8: 68,460,971	E194G	probably benign	Het
Cstf2t	T	A	19: 31,084,094	D343E	probably damaging	Het
Ddx23	A	T	15: 98,650,770	D352E	possibly damaging	Het
Dhx34	G	T	7: 16,218,250	A150D	possibly damaging	Het
Dnal4	A	T	15: 79,763,565	V32E	possibly damaging	Het
Dvl3	G	T	16: 20,524,607		probably benign	Het
Ehmt1	G	T	2: 24,877,497	P135T	probably damaging	Het
Enpp2	C	T	15: 54,899,330	R174H	probably damaging	Het
Eps15	G	A	4: 109,366,530		probably benign	Het
F10	T	C	8: 13,055,698	V421A	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fer1l6	A	T	15: 58,640,154	D1490V	probably damaging	Het
Fsd1l	A	G	4: 53,647,766	K70E	probably benign	Het
Galnt12	G	A	4: 47,113,818	A79T	probably damaging	Het
Galnt17	A	T	5: 130,964,035	M347K	probably damaging	Het
Glyatl3	A	G	17: 40,905,030	V195A	probably benign	Het
Gm10770	A	T	2: 150,179,560		probably null	Het
Gm5578	A	T	6: 112,606,085		noncoding transcript	Het
Grn	C	A	11: 102,430,554		probably benign	Het
Gsk3b	G	A	16: 38,240,520	R418H	probably damaging	Het
Hspa12b	A	G	2: 131,139,508	E221G	possibly damaging	Het
Ighv1-50	T	G	12: 115,120,033	Q22H	probably benign	Het
Ipcef1	A	G	10: 6,919,950	I150T	probably benign	Het
Ipp	T	A	4: 116,515,457	F228I	possibly damaging	Het
Itgb7	A	G	15: 102,217,407	C596R	probably damaging	Het
Kif27	T	C	13: 58,291,090	D1219G	possibly damaging	Het
Lats1	T	A	10: 7,691,811	D115E	probably benign	Het
Lpcat3	A	G	6: 124,702,530	N331S	probably benign	Het
Lrpprc	A	T	17: 84,751,256	N725K	probably benign	Het
Lss	T	G	10: 76,546,236		probably benign	Het
Mfsd6	T	C	1: 52,708,356	Y450C	possibly damaging	Het
Mmp21	A	T	7: 133,679,013	V76E	probably benign	Het
Mtmr11	A	T	3: 96,169,907	Y527F	probably damaging	Het
Mum1	T	C	10: 80,232,868	L282P	probably benign	Het
Nat10	A	T	2: 103,743,293	F327I	probably benign	Het
Nfkbiz	A	T	16: 55,818,500	M199K	probably damaging	Het
Nuak1	A	G	10: 84,374,350	Y625H	probably benign	Het
Odf1	A	G	15: 38,226,149	T98A	possibly damaging	Het
Olfr1274-ps	T	A	2: 90,400,763	M34K	probably benign	Het
Olfr1513	T	C	14: 52,349,791	N85S	probably benign	Het
Olfr350	A	T	2: 36,850,476	L143F	probably benign	Het
Oprl1	T	A	2: 181,718,610	I153N	probably damaging	Het
Osbpl8	T	A	10: 111,288,693	D705E	probably benign	Het
Otud4	G	A	8: 79,655,689	V176I	probably damaging	Het
Paics	T	C	5: 76,956,822		probably benign	Het
Pax5	A	G	4: 44,710,407	M1T	probably null	Het
Pck1	A	T	2: 173,153,489	N34I	probably benign	Het
Pde8b	T	C	13: 95,086,742	I335V	probably benign	Het
Piezo2	A	G	18: 63,074,620	V1440A	probably damaging	Het
Ptpre	T	A	7: 135,652,092	F83Y	probably damaging	Het
Rassf6	T	A	5: 90,604,366		probably null	Het
Rilp	A	T	11: 75,512,708	L325F	probably damaging	Het
Rpf1	A	G	3: 146,506,538	L349S	probably damaging	Het
Rprd2	G	C	3: 95,765,320	R924G	probably benign	Het
Rps6kc1	T	A	1: 190,773,648	D1039V	probably damaging	Het
Rufy3	G	A	5: 88,645,567	V579I	probably benign	Het
Serpinc1	A	G	1: 160,997,570		probably null	Het
Siae	T	G	9: 37,646,520	I541S	possibly damaging	Het
St14	T	G	9: 31,095,583	D649A	probably benign	Het
Stab2	A	G	10: 86,871,810		probably null	Het
Sun3	T	C	11: 9,038,287	T12A	probably benign	Het
Tdrd6	A	G	17: 43,626,210	Y1316H	probably damaging	Het
Thbs3	CAGAAG	CAG	3: 89,223,102		probably benign	Het
Tmem161b	C	A	13: 84,294,768	T269K	possibly damaging	Het
Trav14-3	T	A	14: 53,763,244	S17T	unknown	Het
Trmu	T	A	15: 85,896,355		probably null	Het
Ttn	T	A	2: 76,707,242	T26454S	possibly damaging	Het
Ubr3	T	C	2: 70,020,446		probably benign	Het
Unc5b	A	T	10: 60,775,100	V376E	probably benign	Het
Usp3	T	C	9: 66,542,532	S166G	possibly damaging	Het
Vldlr	C	A	19: 27,238,812	C344*	probably null	Het
Vmn1r17	A	G	6: 57,360,843	V130A	probably benign	Het
Wdfy3	A	C	5: 101,944,103	Y457D	probably damaging	Het
Zbtb2	T	C	10: 4,369,267	Y253C	possibly damaging	Het
Zfp687	A	C	3: 95,010,386	F692V	probably damaging	Het
Zfp758	A	G	17: 22,375,405	K291E	probably damaging	Het
Zfp799	A	T	17: 32,820,441	C284S	probably damaging	Het
Zp1	C	A	19: 10,920,562	C5F	probably benign	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
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

Predicted Primers

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

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

Posted On

2016-06-21