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

1700057H01Rik, RED1, D10Bwg0447e, ADAR2

MMRRC Submission

045632-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7575 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77126560-77254104 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77139129 bp (GRCm39)

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: 32,384,589 (GRCm39)	V459I	probably benign	Het
4921539E11Rik	T	C	4: 103,088,192 (GRCm39)	D439G	probably damaging	Het
Adam18	T	C	8: 25,115,873 (GRCm39)	N607S	possibly damaging	Het
Adamtsl3	A	T	7: 82,223,756 (GRCm39)	N1179I	possibly damaging	Het
Ago1	T	C	4: 126,347,701 (GRCm39)	E394G	probably benign	Het
Alb	G	A	5: 90,613,788 (GRCm39)	C224Y	probably damaging	Het
Alms1	T	A	6: 85,599,141 (GRCm39)	H1322Q	possibly damaging	Het
Arhgef18	T	G	8: 3,501,635 (GRCm39)	V643G	probably damaging	Het
Asah2	T	C	19: 31,994,103 (GRCm39)	Q414R	probably benign	Het
Atpsckmt	C	T	15: 31,606,186 (GRCm39)	A48V	probably damaging	Het
Bbc3	G	A	7: 16,046,292 (GRCm39)	R76H	possibly damaging	Het
Bub1b	T	A	2: 118,471,639 (GRCm39)	S1000T	possibly damaging	Het
Bud23	A	T	5: 135,089,982 (GRCm39)	Y70*	probably null	Het
C1d	A	G	11: 17,212,694 (GRCm39)	E13G	probably damaging	Het
Camk1	T	A	6: 113,315,325 (GRCm39)	I158F	probably damaging	Het
Ccr2	A	C	9: 123,905,843 (GRCm39)	D41A	probably benign	Het
Cdh18	G	T	15: 23,400,683 (GRCm39)	E348*	probably null	Het
Col6a3	A	G	1: 90,738,321 (GRCm39)	L1066P	possibly damaging	Het
Cyp11b1	T	A	15: 74,711,162 (GRCm39)	D172V	probably benign	Het
Cyp2j8	A	G	4: 96,358,785 (GRCm39)	I378T	possibly damaging	Het
Cys1	T	A	12: 24,718,647 (GRCm39)	K69*	probably null	Het
Dip2c	A	G	13: 9,678,048 (GRCm39)	K1165E	probably damaging	Het
Drd3	A	T	16: 43,637,496 (GRCm39)	I232F	probably benign	Het
Dusp7	T	C	9: 106,250,876 (GRCm39)	C334R	probably damaging	Het
Eppk1	A	G	15: 75,995,442 (GRCm39)	S480P	not run	Het
Erc1	G	T	6: 119,801,721 (GRCm39)	P99T	possibly damaging	Het
Fam170b	C	T	14: 32,558,155 (GRCm39)	P330L	unknown	Het
Fasn	G	T	11: 120,703,513 (GRCm39)	T1573K	possibly damaging	Het
Fras1	A	T	5: 96,691,173 (GRCm39)	T130S	probably benign	Het
Fzd4	A	G	7: 89,056,918 (GRCm39)	I322V	possibly damaging	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gdpd4	A	T	7: 97,647,448 (GRCm39)	H365L	probably benign	Het
Gfy	A	G	7: 44,827,524 (GRCm39)	S191P	probably benign	Het
Ghr	A	T	15: 3,349,994 (GRCm39)	S395T	probably damaging	Het
Git2	C	T	5: 114,904,550 (GRCm39)	R123H	probably damaging	Het
Htt	A	G	5: 35,062,987 (GRCm39)	D2873G	probably damaging	Het
Idua	A	T	5: 108,829,565 (GRCm39)	D476V	probably damaging	Het
Inppl1	G	A	7: 101,477,689 (GRCm39)	R683W	probably damaging	Het
Ipp	T	C	4: 116,389,841 (GRCm39)	S466P	probably benign	Het
Iqgap2	A	G	13: 95,798,131 (GRCm39)	V1058A	probably damaging	Het
Jmy	A	T	13: 93,601,103 (GRCm39)	Y434*	probably null	Het
Kmt2d	CTGCTGCTG	CTGCTGCTGATGCTGCTG	15: 98,747,492 (GRCm39)		probably benign	Het
Mogs	T	G	6: 83,092,816 (GRCm39)	S85R	probably damaging	Het
Mroh2b	A	T	15: 4,964,087 (GRCm39)	D863V	probably damaging	Het
Mtmr10	A	T	7: 63,947,213 (GRCm39)	I43F	probably damaging	Het
Mtr	T	C	13: 12,213,963 (GRCm39)	D903G	probably benign	Het
Ncor1	A	G	11: 62,274,082 (GRCm39)	V186A	probably benign	Het
Notch3	C	T	17: 32,373,793 (GRCm39)	D472N	possibly damaging	Het
Or4k44	A	T	2: 111,368,597 (GRCm39)	F12L	probably damaging	Het
Or6c68	T	C	10: 129,157,728 (GRCm39)	F79L	probably damaging	Het
Or8j3c	A	G	2: 86,253,582 (GRCm39)	F146S	probably benign	Het
Or9i1	T	C	19: 13,839,381 (GRCm39)	S75P	probably damaging	Het
Oxr1	T	G	15: 41,686,758 (GRCm39)	L547V	possibly damaging	Het
Pappa2	A	T	1: 158,642,100 (GRCm39)	C1319S	probably damaging	Het
Papss1	A	C	3: 131,348,857 (GRCm39)	K623N	probably damaging	Het
Parp4	T	C	14: 56,875,375 (GRCm39)	F1198S	probably benign	Het
Pcare	T	A	17: 72,057,850 (GRCm39)	Q609L	probably damaging	Het
Pcnt	A	T	10: 76,225,086 (GRCm39)	V1806D	probably benign	Het
Pitx2	A	T	3: 129,009,375 (GRCm39)	H98L	probably damaging	Het
Polq	C	A	16: 36,911,496 (GRCm39)	D2410E	probably benign	Het
Prdm9	C	T	17: 15,764,890 (GRCm39)	C630Y	probably damaging	Het
Preb	A	T	5: 31,115,839 (GRCm39)	D201E	probably damaging	Het
Rasa3	A	T	8: 13,645,887 (GRCm39)	I151N	possibly damaging	Het
Rasgrp2	T	A	19: 6,454,397 (GRCm39)	S147T	probably damaging	Het
Rev3l	A	G	10: 39,697,441 (GRCm39)	D646G	possibly damaging	Het
Sdc1	A	G	12: 8,840,619 (GRCm39)	E128G	probably damaging	Het
Slamf7	A	C	1: 171,466,762 (GRCm39)	C148G	probably damaging	Het
Slc19a2	T	C	1: 164,084,691 (GRCm39)	S194P	probably damaging	Het
Spata31	C	T	13: 65,070,726 (GRCm39)	P958L	unknown	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Stradb	A	G	1: 59,027,739 (GRCm39)	I90V	probably benign	Het
Tas2r134	A	G	2: 51,518,166 (GRCm39)	D215G	probably damaging	Het
Tbc1d4	T	C	14: 101,685,025 (GRCm39)	K1209E	probably damaging	Het
Thbs1	A	G	2: 117,953,409 (GRCm39)	D942G	probably damaging	Het
Tmem107	C	T	11: 68,963,633 (GRCm39)	P139S	probably benign	Het
Tmem216	A	T	19: 10,529,266 (GRCm39)	M40K	probably benign	Het
Tpte	A	G	8: 22,845,498 (GRCm39)	Y516C	probably damaging	Het
Trim54	G	A	5: 31,291,431 (GRCm39)	G184D	possibly damaging	Het
Try5	A	T	6: 41,288,748 (GRCm39)	L157Q	probably benign	Het
Ubqlnl	G	A	7: 103,797,697 (GRCm39)	A600V	probably damaging	Het
Uhrf2	C	A	19: 30,048,768 (GRCm39)	P258Q	probably damaging	Het
Ush2a	A	T	1: 188,554,885 (GRCm39)	E3554D	possibly damaging	Het
Usp40	A	C	1: 87,877,682 (GRCm39)	L1158W	probably damaging	Het
Vmn1r121	T	A	7: 20,832,198 (GRCm39)	R81*	probably null	Het
Vmn1r203	C	A	13: 22,708,588 (GRCm39)	T123K	probably benign	Het
Vmn2r101	T	C	17: 19,831,654 (GRCm39)	V550A	probably benign	Het
Wdr49	A	T	3: 75,358,193 (GRCm39)	M184K	probably damaging	Het
Wipi2	A	G	5: 142,643,987 (GRCm39)	N123S	probably damaging	Het
Zbtb14	T	C	17: 69,694,442 (GRCm39)	F47L	probably damaging	Het
Zc3h7b	C	A	15: 81,662,086 (GRCm39)	S385*	probably null	Het
Zhx2	T	A	15: 57,686,658 (GRCm39)	F676I	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
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
R7372:Adarb1	UTSW	10	77,131,712 (GRCm39)	critical splice acceptor site	probably null
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'- TTAATGGCTTTGCTGCTGCC -3'
(R):5'- ATCAGCCGTTTTCACTGCCG -3'

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

Posted On

2019-10-24