Mutagenetix > Incidental Mutation

Incidental Mutation 'R9227:Adarb1'

699942

Institutional Source

Beutler Lab

Gene Symbol

Adarb1

Ensembl Gene

ENSMUSG00000020262

Gene Name

adenosine deaminase, RNA-specific, B1

Synonyms

RED1, D10Bwg0447e, ADAR2, 1700057H01Rik

MMRRC Submission

068984-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9227 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77290726-77418270 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77321792 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 274 (F274I)

Ref Sequence

ENSEMBL: ENSMUSP00000095976 (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: F274I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020496
Gene: ENSMUSG00000020262
AA Change: F274I

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: F274I

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

SMART Domains

Protein: ENSMUSP00000095976
Gene: ENSMUSG00000020262
AA Change: F274I

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 damaging
Transcript: ENSMUST00000105406
AA Change: F274I

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

SMART Domains

Protein: ENSMUSP00000101046
Gene: ENSMUSG00000020262
AA Change: F274I

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (79/79)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	C	T	8: 13,221,974	V1595I	probably benign	Het
Anxa6	A	G	11: 55,007,868	V160A	probably benign	Het
Appl1	T	C	14: 26,923,735	E706G	unknown	Het
Arhgap21	T	C	2: 20,855,658	T1313A	possibly damaging	Het
Armc2	T	C	10: 41,947,939	Y511C	probably damaging	Het
Atp1a1	A	T	3: 101,592,434	C111S	probably damaging	Het
Atp6v0d2	T	A	4: 19,878,374	M300L	probably benign	Het
BC027072	A	G	17: 71,750,222	L820P	probably damaging	Het
C1ra	T	C	6: 124,516,780	C164R	probably damaging	Het
Cacna1h	T	C	17: 25,380,882	Y1659C	probably damaging	Het
Catsperb	T	C	12: 101,549,794	I563T	probably benign	Het
Cd180	TA	TAA	13: 102,705,006		probably null	Het
Cd55b	A	T	1: 130,422,882	L26*	probably null	Het
Cdc42bpa	A	G	1: 180,106,073	N759S	probably benign	Het
Cenpj	C	T	14: 56,564,719	E130K	possibly damaging	Het
Cep250	C	T	2: 155,970,122	A446V	unknown	Het
Chd7	C	T	4: 8,805,272	S777L	probably benign	Het
Chrm3	C	A	13: 9,878,443	V186L	probably benign	Het
Clrn2	A	G	5: 45,463,941	T226A	probably damaging	Het
Col3a1	C	T	1: 45,343,978	P1071S	unknown	Het
Dytn	A	T	1: 63,647,452	V353D	probably benign	Het
Egfem1	G	A	3: 29,357,168	E155K	probably benign	Het
Eif3m	A	T	2: 105,001,360	M285K	probably damaging	Het
Fam135b	T	C	15: 71,464,007	K446R	probably benign	Het
Fam186a	T	C	15: 99,955,503	T119A	unknown	Het
Frmd4a	T	C	2: 4,608,033	S1025P	possibly damaging	Het
Fubp3	A	G	2: 31,612,552	H449R	probably benign	Het
Fyco1	A	T	9: 123,819,146	I1241N	probably damaging	Het
Gabpb2	A	T	3: 95,204,687	M77K	probably damaging	Het
Gfpt1	T	A	6: 87,050,924	I4K	probably damaging	Het
Gif	G	A	19: 11,760,384	W386*	probably null	Het
Glis1	T	C	4: 107,568,130	S313P	probably benign	Het
Gm3376	T	G	Y: 3,774,819	D5E	probably damaging	Het
Golga4	T	A	9: 118,556,873	M1021K	possibly damaging	Het
Grid2ip	G	A	5: 143,373,439	R270Q	probably damaging	Het
Hps4	G	A	5: 112,378,039	S642N	possibly damaging	Het
Ifit1	A	G	19: 34,647,836	E124G	possibly damaging	Het
Ifna14	T	C	4: 88,571,515	D95G	probably benign	Het
Ilkap	A	C	1: 91,387,215	I142S	probably benign	Het
Inpp5e	C	T	2: 26,398,604	R588H	probably damaging	Het
Kif1b	A	C	4: 149,237,900	M854R	probably damaging	Het
Lcn6	A	T	2: 25,680,095	K91M	probably damaging	Het
Lpin1	A	T	12: 16,538,482	S902R	unknown	Het
Lrig1	C	A	6: 94,630,132	C160F	probably damaging	Het
Mapk13	T	C	17: 28,775,558	I141T	probably damaging	Het
Mapkapk3	A	G	9: 107,260,155	L175P	probably damaging	Het
Micall2	A	G	5: 139,716,072	V472A	unknown	Het
Mmp15	T	C	8: 95,366,331	F113L	probably benign	Het
Msh2	T	G	17: 87,719,289	S738A	probably benign	Het
Myb	C	T	10: 21,154,713	D62N	probably benign	Het
Myo1f	T	C	17: 33,576,450	V53A	probably damaging	Het
Ncf1	A	T	5: 134,221,864	N367K	probably benign	Het
Nim1k	C	A	13: 119,712,582	V259F	probably damaging	Het
Nme8	T	G	13: 19,690,214	I139L	probably benign	Het
Odam	T	C	5: 87,886,598	F46L	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,595,266		probably benign	Het
Olfr8	G	A	10: 78,956,095	D297N	possibly damaging	Het
Pcdha9	A	G	18: 36,998,901	E341G	probably damaging	Het
Pmepa1	T	C	2: 173,276,169	T6A	probably benign	Het
Poglut1	A	T	16: 38,534,806	D219E	possibly damaging	Het
Racgap1	A	G	15: 99,636,197	S145P	possibly damaging	Het
Rasgef1a	C	T	6: 118,089,149	T441I	possibly damaging	Het
Rbm6	T	C	9: 107,787,299	T844A	probably benign	Het
Rell1	T	C	5: 63,939,762		probably benign	Het
Ripk3	A	G	14: 55,785,846	F134S	probably benign	Het
Rnf169	T	C	7: 99,925,492	D632G	possibly damaging	Het
Sclt1	A	T	3: 41,711,196	W146R	probably benign	Het
Setd5	T	C	6: 113,121,794	F796S	possibly damaging	Het
Slc24a5	G	T	2: 125,080,648	G110V	probably damaging	Het
Slc30a10	T	A	1: 185,455,194	M44K	probably damaging	Het
Slc38a10	T	A	11: 120,105,955	D772V	probably benign	Het
Thy1	C	T	9: 44,046,707	T44I	probably damaging	Het
Tinagl1	G	T	4: 130,167,478	S324Y	probably benign	Het
Tll2	T	A	19: 41,104,997	Y477F	probably benign	Het
Tmco1	C	T	1: 167,308,563		probably benign	Het
Tmco6	T	C	18: 36,741,666	L402P	probably damaging	Het
Tnrc18	G	T	5: 142,787,637	A479D		Het
Uba7	T	C	9: 107,975,802	V12A	possibly damaging	Het
Usp5	T	C	6: 124,818,636	D598G	probably damaging	Het
Vmn1r158	C	T	7: 22,790,044	V247I	probably benign	Het
Vpreb2	A	G	16: 17,980,937	N96D	probably damaging	Het
Zcchc17	A	T	4: 130,337,135	M87K	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
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
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'- ATGTTATCAAGGGCAGTGGC -3'
(R):5'- GTGGAGATGTCAGCCTATCG -3'

Sequencing Primer
(F):5'- AGTGGCCACTCATCTGCAAG -3'
(R):5'- AGTGCCTGCCAGCCTTAC -3'

Posted On

2022-02-07