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

1700057H01Rik, RED1, D10Bwg0447e, ADAR2

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

77126560-77254104 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 77161679 bp (GRCm39)

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: ENSMUST00000156583

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150512

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150227

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154607

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149738

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
Adrb3	A	C	8: 27,717,798 (GRCm39)	M217R	probably damaging	Het
Ank2	A	T	3: 126,757,094 (GRCm39)	N1054K	possibly damaging	Het
Aox4	A	T	1: 58,275,835 (GRCm39)	D389V	probably benign	Het
Aph1a	G	T	3: 95,802,843 (GRCm39)	G148W	probably damaging	Het
Arsj	A	G	3: 126,231,803 (GRCm39)	D183G	probably benign	Het
Atg2b	A	G	12: 105,641,209 (GRCm39)	S76P	probably damaging	Het
Atxn7l1	C	A	12: 33,422,875 (GRCm39)	N815K	probably damaging	Het
Cd3d	A	T	9: 44,896,296 (GRCm39)	E28D	probably damaging	Het
Cir1	G	A	2: 73,114,847 (GRCm39)	R404*	probably null	Het
Cops8	A	G	1: 90,538,724 (GRCm39)	D51G	probably damaging	Het
Csgalnact1	T	C	8: 68,913,623 (GRCm39)	E194G	probably benign	Het
Cstf2t	T	A	19: 31,061,494 (GRCm39)	D343E	probably damaging	Het
Ddx23	A	T	15: 98,548,651 (GRCm39)	D352E	possibly damaging	Het
Dhx34	G	T	7: 15,952,175 (GRCm39)	A150D	possibly damaging	Het
Dnal4	A	T	15: 79,647,766 (GRCm39)	V32E	possibly damaging	Het
Dvl3	G	T	16: 20,343,357 (GRCm39)		probably benign	Het
Ehmt1	G	T	2: 24,767,509 (GRCm39)	P135T	probably damaging	Het
Enpp2	C	T	15: 54,762,726 (GRCm39)	R174H	probably damaging	Het
Eps15	G	A	4: 109,223,727 (GRCm39)		probably benign	Het
F10	T	C	8: 13,105,698 (GRCm39)	V421A	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fer1l6	A	T	15: 58,512,003 (GRCm39)	D1490V	probably damaging	Het
Fsd1l	A	G	4: 53,647,766 (GRCm39)	K70E	probably benign	Het
Galnt12	G	A	4: 47,113,818 (GRCm39)	A79T	probably damaging	Het
Galnt17	A	T	5: 130,992,873 (GRCm39)	M347K	probably damaging	Het
Glyatl3	A	G	17: 41,215,921 (GRCm39)	V195A	probably benign	Het
Gm10770	A	T	2: 150,021,480 (GRCm39)		probably null	Het
Gm5578	A	T	6: 112,583,046 (GRCm39)		noncoding transcript	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Gsk3b	G	A	16: 38,060,882 (GRCm39)	R418H	probably damaging	Het
Hspa12b	A	G	2: 130,981,428 (GRCm39)	E221G	possibly damaging	Het
Ighv1-50	T	G	12: 115,083,653 (GRCm39)	Q22H	probably benign	Het
Ipcef1	A	G	10: 6,869,950 (GRCm39)	I150T	probably benign	Het
Ipp	T	A	4: 116,372,654 (GRCm39)	F228I	possibly damaging	Het
Itgb7	A	G	15: 102,125,842 (GRCm39)	C596R	probably damaging	Het
Kif27	T	C	13: 58,438,904 (GRCm39)	D1219G	possibly damaging	Het
Lats1	T	A	10: 7,567,575 (GRCm39)	D115E	probably benign	Het
Lpcat3	A	G	6: 124,679,493 (GRCm39)	N331S	probably benign	Het
Lrpprc	A	T	17: 85,058,684 (GRCm39)	N725K	probably benign	Het
Lss	T	G	10: 76,382,070 (GRCm39)		probably benign	Het
Mfsd6	T	C	1: 52,747,515 (GRCm39)	Y450C	possibly damaging	Het
Mmp21	A	T	7: 133,280,742 (GRCm39)	V76E	probably benign	Het
Mtmr11	A	T	3: 96,077,223 (GRCm39)	Y527F	probably damaging	Het
Nat10	A	T	2: 103,573,638 (GRCm39)	F327I	probably benign	Het
Nfkbiz	A	T	16: 55,638,863 (GRCm39)	M199K	probably damaging	Het
Nuak1	A	G	10: 84,210,214 (GRCm39)	Y625H	probably benign	Het
Odf1	A	G	15: 38,226,393 (GRCm39)	T98A	possibly damaging	Het
Oprl1	T	A	2: 181,360,403 (GRCm39)	I153N	probably damaging	Het
Or10g3b	T	C	14: 52,587,248 (GRCm39)	N85S	probably benign	Het
Or1j4	A	T	2: 36,740,488 (GRCm39)	L143F	probably benign	Het
Or4x13	T	A	2: 90,231,107 (GRCm39)	M34K	probably benign	Het
Osbpl8	T	A	10: 111,124,554 (GRCm39)	D705E	probably benign	Het
Otud4	G	A	8: 80,382,318 (GRCm39)	V176I	probably damaging	Het
Paics	T	C	5: 77,104,669 (GRCm39)		probably benign	Het
Pax5	A	G	4: 44,710,407 (GRCm39)	M1T	probably null	Het
Pck1	A	T	2: 172,995,282 (GRCm39)	N34I	probably benign	Het
Pde8b	T	C	13: 95,223,250 (GRCm39)	I335V	probably benign	Het
Piezo2	A	G	18: 63,207,691 (GRCm39)	V1440A	probably damaging	Het
Prr23a4	T	C	9: 98,785,793 (GRCm39)	S153P	probably benign	Het
Ptpre	T	A	7: 135,253,821 (GRCm39)	F83Y	probably damaging	Het
Pwwp3a	T	C	10: 80,068,702 (GRCm39)	L282P	probably benign	Het
Rassf6	T	A	5: 90,752,225 (GRCm39)		probably null	Het
Rilp	A	T	11: 75,403,534 (GRCm39)	L325F	probably damaging	Het
Rpf1	A	G	3: 146,212,293 (GRCm39)	L349S	probably damaging	Het
Rprd2	G	C	3: 95,672,632 (GRCm39)	R924G	probably benign	Het
Rps6kc1	T	A	1: 190,505,845 (GRCm39)	D1039V	probably damaging	Het
Rufy3	G	A	5: 88,793,426 (GRCm39)	V579I	probably benign	Het
Serpinc1	A	G	1: 160,825,140 (GRCm39)		probably null	Het
Siae	T	G	9: 37,557,816 (GRCm39)	I541S	possibly damaging	Het
St14	T	G	9: 31,006,879 (GRCm39)	D649A	probably benign	Het
Stab2	A	G	10: 86,707,674 (GRCm39)		probably null	Het
Sun3	T	C	11: 8,988,287 (GRCm39)	T12A	probably benign	Het
Tdrd6	A	G	17: 43,937,101 (GRCm39)	Y1316H	probably damaging	Het
Thbs3	CAGAAG	CAG	3: 89,130,409 (GRCm39)		probably benign	Het
Tmem161b	C	A	13: 84,442,887 (GRCm39)	T269K	possibly damaging	Het
Trav14-3	T	A	14: 54,000,701 (GRCm39)	S17T	unknown	Het
Trmu	T	A	15: 85,780,556 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,537,586 (GRCm39)	T26454S	possibly damaging	Het
Ubr3	T	C	2: 69,850,790 (GRCm39)		probably benign	Het
Unc5b	A	T	10: 60,610,879 (GRCm39)	V376E	probably benign	Het
Usp3	T	C	9: 66,449,814 (GRCm39)	S166G	possibly damaging	Het
Vldlr	C	A	19: 27,216,212 (GRCm39)	C344*	probably null	Het
Vmn1r17	A	G	6: 57,337,828 (GRCm39)	V130A	probably benign	Het
Wdfy3	A	C	5: 102,091,969 (GRCm39)	Y457D	probably damaging	Het
Zbtb2	T	C	10: 4,319,267 (GRCm39)	Y253C	possibly damaging	Het
Zfp687	A	C	3: 94,917,697 (GRCm39)	F692V	probably damaging	Het
Zfp758	A	G	17: 22,594,386 (GRCm39)	K291E	probably damaging	Het
Zfp799	A	T	17: 33,039,415 (GRCm39)	C284S	probably damaging	Het
Zp1	C	A	19: 10,897,926 (GRCm39)	C5F	probably benign	Het

Other mutations in Adarb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00736:Adarb1	APN	10	77,158,324 (GRCm39)	missense	probably damaging	1.00
IGL01996:Adarb1	APN	10	77,158,051 (GRCm39)	missense	probably damaging	1.00
IGL02173:Adarb1	APN	10	77,157,659 (GRCm39)	missense	probably damaging	1.00
IGL02214:Adarb1	APN	10	77,158,135 (GRCm39)	missense	probably damaging	0.99
IGL02399:Adarb1	APN	10	77,131,588 (GRCm39)	missense	probably benign	0.02
IGL02699:Adarb1	APN	10	77,157,853 (GRCm39)	missense	probably benign
IGL02867:Adarb1	APN	10	77,149,375 (GRCm39)	missense	probably benign	0.01
IGL02889:Adarb1	APN	10	77,149,375 (GRCm39)	missense	probably benign	0.01
IGL03133:Adarb1	APN	10	77,161,730 (GRCm39)	start gained	probably benign
R1806:Adarb1	UTSW	10	77,158,099 (GRCm39)	missense	probably damaging	0.98
R1834:Adarb1	UTSW	10	77,153,065 (GRCm39)	splice site	probably benign
R2174:Adarb1	UTSW	10	77,131,632 (GRCm39)	missense	probably benign	0.35
R2233:Adarb1	UTSW	10	77,153,183 (GRCm39)	missense	probably damaging	1.00
R2234:Adarb1	UTSW	10	77,153,183 (GRCm39)	missense	probably damaging	1.00
R2908:Adarb1	UTSW	10	77,149,237 (GRCm39)	critical splice donor site	probably null
R3106:Adarb1	UTSW	10	77,157,591 (GRCm39)	missense	probably damaging	1.00
R5104:Adarb1	UTSW	10	77,158,121 (GRCm39)	missense	probably damaging	1.00
R5497:Adarb1	UTSW	10	77,161,723 (GRCm39)	missense	probably damaging	0.96
R5869:Adarb1	UTSW	10	77,161,450 (GRCm39)	intron	probably benign
R6168:Adarb1	UTSW	10	77,158,153 (GRCm39)	missense	probably damaging	1.00
R7372:Adarb1	UTSW	10	77,131,712 (GRCm39)	critical splice acceptor site	probably null
R7575:Adarb1	UTSW	10	77,139,129 (GRCm39)	missense	probably damaging	0.99
R7885:Adarb1	UTSW	10	77,131,542 (GRCm39)	missense	possibly damaging	0.50
R9227:Adarb1	UTSW	10	77,157,626 (GRCm39)	missense	probably damaging	1.00
R9230:Adarb1	UTSW	10	77,157,626 (GRCm39)	missense	probably damaging	1.00
R9350:Adarb1	UTSW	10	77,158,267 (GRCm39)	missense	possibly damaging	0.91
R9457:Adarb1	UTSW	10	77,157,982 (GRCm39)	missense	possibly damaging	0.46
R9688:Adarb1	UTSW	10	77,147,099 (GRCm39)	missense	probably damaging	1.00
R9716:Adarb1	UTSW	10	77,131,539 (GRCm39)	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