Mutagenetix > Incidental Mutation

Incidental Mutation 'R7372:Adarb1'

572167

Institutional Source

Beutler Lab

Gene Symbol

Adarb1

Ensembl Gene

ENSMUSG00000020262

Gene Name

adenosine deaminase, RNA-specific, B1

Synonyms

1700057H01Rik, RED1, D10Bwg0447e, ADAR2

MMRRC Submission

045455-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7372 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77126560-77254104 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 77131712 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000095976 (fasta)

Gene Model

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

AlphaFold

Q91ZS8

Predicted Effect

probably null
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 null
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 null
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

Coding Region Coverage

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

Validation Efficiency

99% (68/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	G	A	1: 156,450,189 (GRCm39)	V119M	probably damaging	Het
Acss2	T	C	2: 155,399,100 (GRCm39)	V454A	probably damaging	Het
Adam6b	T	A	12: 113,453,784 (GRCm39)	D200E	probably benign	Het
Aqp12	C	T	1: 92,934,088 (GRCm39)		probably benign	Het
Atrnl1	T	C	19: 57,924,078 (GRCm39)	V1281A	possibly damaging	Het
Brdt	A	G	5: 107,518,160 (GRCm39)	E761G	possibly damaging	Het
Bsn	A	T	9: 107,987,718 (GRCm39)	I2678N	unknown	Het
C2cd2	A	T	16: 97,676,580 (GRCm39)	C136S		Het
Camk4	A	G	18: 33,318,178 (GRCm39)	D445G	probably benign	Het
Cckar	T	C	5: 53,864,624 (GRCm39)	T26A	probably damaging	Het
Cd209a	T	A	8: 3,798,857 (GRCm39)		probably null	Het
Cept1	A	G	3: 106,411,056 (GRCm39)	F379S	probably benign	Het
Crhr1	A	G	11: 104,054,719 (GRCm39)		probably null	Het
Cryzl1	T	C	16: 91,509,085 (GRCm39)	E72G	probably benign	Het
Ctnnal1	T	A	4: 56,826,285 (GRCm39)	E526V	possibly damaging	Het
Cyp3a41a	T	C	5: 145,650,374 (GRCm39)	I90V	possibly damaging	Het
Dek	T	C	13: 47,259,053 (GRCm39)	E51G	unknown	Het
Dnaaf6rt	A	T	1: 31,262,432 (GRCm39)	D138V	probably damaging	Het
Evc2	T	A	5: 37,544,477 (GRCm39)	V742E	probably damaging	Het
Fat4	G	A	3: 38,944,358 (GRCm39)	V1084M	probably damaging	Het
Fscb	G	A	12: 64,518,598 (GRCm39)	T956I	unknown	Het
Glipr2	T	C	4: 43,968,184 (GRCm39)	L29P	probably damaging	Het
Gm19402	A	T	10: 77,526,261 (GRCm39)	S111T	unknown	Het
Gm4553	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	7: 141,719,157 (GRCm39)		probably benign	Het
Gnl3	T	C	14: 30,738,843 (GRCm39)	K115E	probably benign	Het
Gpn1	T	A	5: 31,658,465 (GRCm39)	F147I	probably damaging	Het
Gsdmd	T	A	15: 75,737,618 (GRCm39)	L232H	probably benign	Het
Helz2	A	G	2: 180,880,216 (GRCm39)	V500A	possibly damaging	Het
Hemk1	T	C	9: 107,214,267 (GRCm39)	E55G	probably benign	Het
Hs2st1	A	T	3: 144,141,221 (GRCm39)		probably null	Het
Ighv1-63	A	G	12: 115,459,486 (GRCm39)	V37A	probably damaging	Het
Iqsec3	C	A	6: 121,360,991 (GRCm39)	E956*	probably null	Het
Kcnh8	T	A	17: 53,201,129 (GRCm39)	I521K	probably damaging	Het
Kif3c	T	A	12: 3,437,592 (GRCm39)	M531K	probably benign	Het
Kif5c	T	A	2: 49,648,671 (GRCm39)		probably null	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Lcor	T	C	19: 41,573,945 (GRCm39)	L900P	probably damaging	Het
Lrrc32	A	G	7: 98,149,014 (GRCm39)	D598G	probably benign	Het
Mug2	T	C	6: 122,060,425 (GRCm39)	V1387A	possibly damaging	Het
Nin	T	A	12: 70,102,803 (GRCm39)	E275V		Het
Or5p68	A	G	7: 107,945,703 (GRCm39)	F162L	probably benign	Het
Papolg	A	G	11: 23,816,439 (GRCm39)	I698T	probably benign	Het
Pcdhb20	A	G	18: 37,639,840 (GRCm39)	N789D	probably benign	Het
Pik3cg	C	T	12: 32,247,196 (GRCm39)	M842I	probably damaging	Het
Pnn	T	A	12: 59,115,765 (GRCm39)	D135E	probably damaging	Het
Pold1	C	A	7: 44,192,847 (GRCm39)	R5L	possibly damaging	Het
Prl8a1	A	T	13: 27,758,089 (GRCm39)	F207I	probably damaging	Het
Prr11	A	G	11: 86,989,600 (GRCm39)	V257A	probably benign	Het
Prtg	C	T	9: 72,758,848 (GRCm39)	R401*	probably null	Het
Rasgrp1	A	G	2: 117,115,635 (GRCm39)	M651T	probably benign	Het
Ryr2	T	A	13: 11,695,885 (GRCm39)	H2994L	probably damaging	Het
Snx13	A	T	12: 35,128,950 (GRCm39)	I23L	probably benign	Het
Snx7	A	G	3: 117,576,000 (GRCm39)	L429P	probably damaging	Het
Spta1	C	T	1: 174,025,201 (GRCm39)	Q689*	probably null	Het
Spty2d1	T	C	7: 46,648,692 (GRCm39)	D79G	probably damaging	Het
Tbc1d9b	A	G	11: 50,059,515 (GRCm39)		probably null	Het
Tnxb	T	C	17: 34,936,228 (GRCm39)	F2722L	possibly damaging	Het
Tppp2	C	T	14: 52,156,865 (GRCm39)	R81C	probably benign	Het
Trim6	G	T	7: 103,881,843 (GRCm39)	A391S	probably benign	Het
Trim69	A	C	2: 122,009,064 (GRCm39)	T375P	possibly damaging	Het
Trim72	A	G	7: 127,603,858 (GRCm39)	N68S	possibly damaging	Het
Trrap	G	A	5: 144,726,208 (GRCm39)	V386I	probably benign	Het
Ttn	T	C	2: 76,778,275 (GRCm39)	I1371V	unknown	Het
Usp17lb	A	T	7: 104,490,913 (GRCm39)		probably null	Het
Vmn2r20	A	T	6: 123,362,468 (GRCm39)	L772Q	probably damaging	Het
Ypel3	A	G	7: 126,379,200 (GRCm39)	E91G	probably benign	Het
Zbtb21	C	T	16: 97,751,569 (GRCm39)	E905K	possibly damaging	Het
Zfp189	T	A	4: 49,530,417 (GRCm39)	C507S	possibly 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
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
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
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'- AGTACCTTGCCGTGTACAC -3'
(R):5'- GGCTCTATCAGACTCTTGCC -3'

Sequencing Primer
(F):5'- CCCTGTTGTGGCATTGAT -3'
(R):5'- TCTTGCCCCTCACAGACGAG -3'

Posted On

2019-09-13