Mutagenetix > Incidental Mutation

Incidental Mutation 'R2174:Adarb1'

237711

Institutional Source

Beutler Lab

Gene Symbol

Adarb1

Ensembl Gene

ENSMUSG00000020262

Gene Name

adenosine deaminase, RNA-specific, B1

Synonyms

1700057H01Rik, RED1, D10Bwg0447e, ADAR2

MMRRC Submission

040176-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2174 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77126560-77254104 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77131632 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 619 (I619T)

Ref Sequence

ENSEMBL: ENSMUSP00000101046 (fasta)

Gene Model

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

AlphaFold

Q91ZS8

Predicted Effect

probably benign
Transcript: ENSMUST00000020496
AA Change: I609T

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000020496
Gene: ENSMUSG00000020262
AA Change: I609T

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: I619T

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000095976
Gene: ENSMUSG00000020262
AA Change: I619T

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: I619T

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101046
Gene: ENSMUSG00000020262
AA Change: I619T

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

Meta Mutation Damage Score

0.2258

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

99% (73/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C10Rik	T	C	7: 37,894,252 (GRCm39)	I95T	possibly damaging	Het
Aldh2	T	C	5: 121,710,731 (GRCm39)		probably benign	Het
Antxrl	T	A	14: 33,782,357 (GRCm39)	L180Q	probably damaging	Het
Asnsd1	A	T	1: 53,386,760 (GRCm39)	I289N	probably benign	Het
Asxl3	T	G	18: 22,586,701 (GRCm39)	S164A	possibly damaging	Het
Cacnb2	C	T	2: 14,963,578 (GRCm39)	T108I	probably benign	Het
Capn2	A	T	1: 182,307,290 (GRCm39)	I516N	probably benign	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Cenpo	T	C	12: 4,267,318 (GRCm39)	K73R	probably benign	Het
Cfap20dc	T	C	14: 8,558,109 (GRCm38)	I159V	probably benign	Het
Clasp1	A	G	1: 118,487,825 (GRCm39)	H823R	probably damaging	Het
Col6a4	T	C	9: 105,937,331 (GRCm39)	D1395G	probably damaging	Het
Ddx60	A	G	8: 62,409,175 (GRCm39)	I404V	probably damaging	Het
Ddx60	G	T	8: 62,470,234 (GRCm39)	M1407I	probably benign	Het
Dennd3	A	T	15: 73,427,154 (GRCm39)	R844W	probably damaging	Het
Depdc1b	A	T	13: 108,498,787 (GRCm39)	K157*	probably null	Het
Dnai7	T	C	6: 145,120,896 (GRCm39)	H641R	probably damaging	Het
Dnajc1	T	C	2: 18,312,762 (GRCm39)	D196G	probably damaging	Het
Fanca	A	G	8: 123,998,009 (GRCm39)	W1226R	probably benign	Het
Fbxl13	A	G	5: 21,787,046 (GRCm39)	V297A	possibly damaging	Het
Fnta	A	T	8: 26,503,498 (GRCm39)	F96I	possibly damaging	Het
Fzd3	T	C	14: 65,449,680 (GRCm39)		probably benign	Het
Gckr	T	C	5: 31,484,353 (GRCm39)	V597A	possibly damaging	Het
Gm43302	T	C	5: 105,422,216 (GRCm39)	K496R	probably benign	Het
Gm5283	A	G	3: 17,285,005 (GRCm39)		noncoding transcript	Het
Gm6741	A	G	17: 91,544,332 (GRCm39)	I32V	probably benign	Het
Gnptab	T	A	10: 88,269,906 (GRCm39)	F870I	probably damaging	Het
Gpx8	G	A	13: 113,182,140 (GRCm39)	P98S	probably benign	Het
Grm2	T	C	9: 106,524,994 (GRCm39)	I574V	probably benign	Het
Gtf3c5	T	C	2: 28,457,787 (GRCm39)	D468G	probably benign	Het
Hectd3	A	T	4: 116,856,898 (GRCm39)	M482L	probably benign	Het
Ier5	G	T	1: 154,974,599 (GRCm39)	P193H	possibly damaging	Het
Inpp4a	A	G	1: 37,435,211 (GRCm39)	N827S	probably damaging	Het
Kif13a	A	G	13: 46,922,652 (GRCm39)	L387P	probably damaging	Het
Map3k1	G	C	13: 111,889,016 (GRCm39)	H1314D	possibly damaging	Het
Mbl2	G	A	19: 30,211,412 (GRCm39)	C11Y	possibly damaging	Het
Msr1	A	G	8: 40,084,381 (GRCm39)	L58P	probably damaging	Het
Mtmr10	T	A	7: 63,986,512 (GRCm39)	F530Y	possibly damaging	Het
Myo7b	A	G	18: 32,116,610 (GRCm39)	L999P	probably damaging	Het
Myoz3	T	C	18: 60,723,296 (GRCm39)	E8G	probably benign	Het
Naip6	C	A	13: 100,435,495 (GRCm39)	M1009I	probably benign	Het
Nav2	T	A	7: 49,102,411 (GRCm39)	M342K	probably damaging	Het
Ndufaf6	T	C	4: 11,070,228 (GRCm39)	H131R	probably benign	Het
Nlrp4a	T	C	7: 26,148,849 (GRCm39)	L152P	probably damaging	Het
Or9s23	A	G	1: 92,501,379 (GRCm39)	N162S	probably benign	Het
Pan3	T	C	5: 147,387,463 (GRCm39)	I144T	possibly damaging	Het
Prkdc	A	T	16: 15,552,786 (GRCm39)	Q2074L	probably benign	Het
Pthlh	G	A	6: 147,158,510 (GRCm39)	T150I	probably benign	Het
Ptprq	A	T	10: 107,541,414 (GRCm39)	Y371N	probably damaging	Het
Rfwd3	A	G	8: 112,009,975 (GRCm39)	S377P	probably damaging	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Sap130	T	C	18: 31,810,532 (GRCm39)		probably null	Het
Sap25	T	G	5: 137,640,891 (GRCm39)	M229R	possibly damaging	Het
Scaper	A	T	9: 55,766,321 (GRCm39)	V479E	probably null	Het
Scn3a	T	A	2: 65,337,550 (GRCm39)	D649V	probably damaging	Het
Slco1a7	A	T	6: 141,673,319 (GRCm39)	Y406*	probably null	Het
Smc1b	A	G	15: 85,006,052 (GRCm39)		probably benign	Het
Sowahb	T	C	5: 93,192,284 (GRCm39)	E145G	possibly damaging	Het
Stxbp5	T	A	10: 9,711,590 (GRCm39)	I277F	possibly damaging	Het
Tanc1	T	C	2: 59,674,177 (GRCm39)	S1754P	possibly damaging	Het
Tanc2	A	G	11: 105,801,135 (GRCm39)	D1117G	probably benign	Het
Tbc1d31	A	G	15: 57,815,137 (GRCm39)	M605V	possibly damaging	Het
Tekt3	A	T	11: 62,985,514 (GRCm39)	D440V	possibly damaging	Het
Tmem67	C	T	4: 12,063,730 (GRCm39)	W477*	probably null	Het
Tra2a	T	C	6: 49,227,861 (GRCm39)		probably benign	Het
Trappc12	A	G	12: 28,797,380 (GRCm39)	F51L	possibly damaging	Het
Trrap	C	A	5: 144,758,665 (GRCm39)	P2183Q	probably benign	Het
Ubn2	T	A	6: 38,447,076 (GRCm39)		probably null	Het
Unc5d	A	T	8: 29,184,568 (GRCm39)	V644E	probably damaging	Het
Xpo4	A	G	14: 57,827,547 (GRCm39)	L883P	probably damaging	Het
Zbbx	T	G	3: 74,959,721 (GRCm39)	D616A	possibly damaging	Het
Zfp943	T	A	17: 22,211,804 (GRCm39)	C297S	probably damaging	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
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
R5134:Adarb1	UTSW	10	77,161,679 (GRCm39)	intron	probably benign
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'- CGTATTAGGAGGTTGCAATGAAGAC -3'
(R):5'- AGAGTCAGCTAAGCCTCCTC -3'

Sequencing Primer
(F):5'- GTTGCAATGAAGACACGATGG -3'
(R):5'- GATAAACTTTCTCAGCTCTGAACTG -3'

Posted On

2014-10-02