Mutagenetix > Incidental Mutation

Incidental Mutation 'R7575:Adarb1'

586349

Institutional Source

Beutler Lab

Gene Symbol

Adarb1

Ensembl Gene

ENSMUSG00000020262

Gene Name

adenosine deaminase, RNA-specific, B1

Synonyms

RED1, D10Bwg0447e, ADAR2, 1700057H01Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7575 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77290726-77418270 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77303295 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 552 (F552S)

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: F542S

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

SMART Domains

Protein: ENSMUSP00000020496
Gene: ENSMUSG00000020262
AA Change: F542S

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: F552S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095976
Gene: ENSMUSG00000020262
AA Change: F552S

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: F552S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101046
Gene: ENSMUSG00000020262
AA Change: F552S

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	C	T	14: 32,662,632	V459I	probably benign	Het
4921539E11Rik	T	C	4: 103,230,995	D439G	probably damaging	Het
Adam18	T	C	8: 24,625,857	N607S	possibly damaging	Het
Adamtsl3	A	T	7: 82,574,548	N1179I	possibly damaging	Het
Ago1	T	C	4: 126,453,908	E394G	probably benign	Het
Alb	G	A	5: 90,465,929	C224Y	probably damaging	Het
Alms1	T	A	6: 85,622,159	H1322Q	possibly damaging	Het
Arhgef18	T	G	8: 3,451,635	V643G	probably damaging	Het
Asah2	T	C	19: 32,016,703	Q414R	probably benign	Het
Bbc3	G	A	7: 16,312,367	R76H	possibly damaging	Het
BC027072	T	A	17: 71,750,855	Q609L	probably damaging	Het
Bub1b	T	A	2: 118,641,158	S1000T	possibly damaging	Het
Bud23	A	T	5: 135,061,128	Y70*	probably null	Het
C1d	A	G	11: 17,262,694	E13G	probably damaging	Het
Camk1	T	A	6: 113,338,364	I158F	probably damaging	Het
Ccr2	A	C	9: 124,105,806	D41A	probably benign	Het
Cdh18	G	T	15: 23,400,597	E348*	probably null	Het
Col6a3	A	G	1: 90,810,599	L1066P	possibly damaging	Het
Cyp11b1	T	A	15: 74,839,313	D172V	probably benign	Het
Cyp2j8	A	G	4: 96,470,548	I378T	possibly damaging	Het
Cys1	T	A	12: 24,668,648	K69*	probably null	Het
Dip2c	A	G	13: 9,628,012	K1165E	probably damaging	Het
Drd3	A	T	16: 43,817,133	I232F	probably benign	Het
Dusp7	T	C	9: 106,373,677	C334R	probably damaging	Het
Eppk1	A	G	15: 76,111,242	S480P	not run	Het
Erc1	G	T	6: 119,824,760	P99T	possibly damaging	Het
Fam170b	C	T	14: 32,836,198	P330L	unknown	Het
Fam173b	C	T	15: 31,606,040	A48V	probably damaging	Het
Fasn	G	T	11: 120,812,687	T1573K	possibly damaging	Het
Fras1	A	T	5: 96,543,314	T130S	probably benign	Het
Fzd4	A	G	7: 89,407,710	I322V	possibly damaging	Het
Gbp10	G	A	5: 105,236,149		probably benign	Het
Gdpd4	A	T	7: 97,998,241	H365L	probably benign	Het
Gfy	A	G	7: 45,178,100	S191P	probably benign	Het
Ghr	A	T	15: 3,320,512	S395T	probably damaging	Het
Git2	C	T	5: 114,766,489	R123H	probably damaging	Het
Htt	A	G	5: 34,905,643	D2873G	probably damaging	Het
Idua	A	T	5: 108,681,699	D476V	probably damaging	Het
Inppl1	G	A	7: 101,828,482	R683W	probably damaging	Het
Ipp	T	C	4: 116,532,644	S466P	probably benign	Het
Iqgap2	A	G	13: 95,661,623	V1058A	probably damaging	Het
Jmy	A	T	13: 93,464,595	Y434*	probably null	Het
Kmt2d	CTGCTGCTG	CTGCTGCTGATGCTGCTG	15: 98,849,611		probably benign	Het
Mogs	T	G	6: 83,115,835	S85R	probably damaging	Het
Mroh2b	A	T	15: 4,934,605	D863V	probably damaging	Het
Mtmr10	A	T	7: 64,297,465	I43F	probably damaging	Het
Mtr	T	C	13: 12,199,077	D903G	probably benign	Het
Ncor1	A	G	11: 62,383,256	V186A	probably benign	Het
Notch3	C	T	17: 32,154,819	D472N	possibly damaging	Het
Olfr1062	A	G	2: 86,423,238	F146S	probably benign	Het
Olfr1294	A	T	2: 111,538,252	F12L	probably damaging	Het
Olfr1502	T	C	19: 13,862,017	S75P	probably damaging	Het
Olfr780	T	C	10: 129,321,859	F79L	probably damaging	Het
Oxr1	T	G	15: 41,823,362	L547V	possibly damaging	Het
Pappa2	A	T	1: 158,814,530	C1319S	probably damaging	Het
Papss1	A	C	3: 131,643,096	K623N	probably damaging	Het
Parp4	T	C	14: 56,637,918	F1198S	probably benign	Het
Pcnt	A	T	10: 76,389,252	V1806D	probably benign	Het
Pitx2	A	T	3: 129,215,726	H98L	probably damaging	Het
Polq	C	A	16: 37,091,134	D2410E	probably benign	Het
Prdm9	C	T	17: 15,544,628	C630Y	probably damaging	Het
Preb	A	T	5: 30,958,495	D201E	probably damaging	Het
Rasa3	A	T	8: 13,595,887	I151N	possibly damaging	Het
Rasgrp2	T	A	19: 6,404,367	S147T	probably damaging	Het
Rev3l	A	G	10: 39,821,445	D646G	possibly damaging	Het
Sdc1	A	G	12: 8,790,619	E128G	probably damaging	Het
Slamf7	A	C	1: 171,639,194	C148G	probably damaging	Het
Slc19a2	T	C	1: 164,257,122	S194P	probably damaging	Het
Spata31	C	T	13: 64,922,912	P958L	unknown	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,317,519		probably benign	Het
Stradb	A	G	1: 58,988,580	I90V	probably benign	Het
Tas2r134	A	G	2: 51,628,154	D215G	probably damaging	Het
Tbc1d4	T	C	14: 101,447,589	K1209E	probably damaging	Het
Thbs1	A	G	2: 118,122,928	D942G	probably damaging	Het
Tmem107	C	T	11: 69,072,807	P139S	probably benign	Het
Tmem216	A	T	19: 10,551,902	M40K	probably benign	Het
Tpte	A	G	8: 22,355,482	Y516C	probably damaging	Het
Trim54	G	A	5: 31,134,087	G184D	possibly damaging	Het
Try5	A	T	6: 41,311,814	L157Q	probably benign	Het
Ubqlnl	G	A	7: 104,148,490	A600V	probably damaging	Het
Uhrf2	C	A	19: 30,071,368	P258Q	probably damaging	Het
Ush2a	A	T	1: 188,822,688	E3554D	possibly damaging	Het
Usp40	A	C	1: 87,949,960	L1158W	probably damaging	Het
Vmn1r121	T	A	7: 21,098,273	R81*	probably null	Het
Vmn1r203	C	A	13: 22,524,418	T123K	probably benign	Het
Vmn2r101	T	C	17: 19,611,392	V550A	probably benign	Het
Wdr49	A	T	3: 75,450,886	M184K	probably damaging	Het
Wipi2	A	G	5: 142,658,232	N123S	probably damaging	Het
Zbtb14	T	C	17: 69,387,447	F47L	probably damaging	Het
Zc3h7b	C	A	15: 81,777,885	S385*	probably null	Het
Zhx2	T	A	15: 57,823,262	F676I	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
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'- TTAATGGCTTTGCTGCTGCC -3'
(R):5'- ATCAGCCGTTTTCACTGCCG -3'

Sequencing Primer
(F):5'- ATCAGACACTGTGAGCTCAGG -3'
(R):5'- GCCGTCTTCGCCTTTTACAGAC -3'

Posted On

2019-10-24