Mutagenetix > Incidental Mutations

Incidental Mutation 'R3412:Adarb2'

267780

Institutional Source

Beutler Lab

Gene Symbol

Adarb2

Ensembl Gene

ENSMUSG00000052551

Gene Name

adenosine deaminase, RNA-specific, B2

Synonyms

Adar3, RED2

MMRRC Submission

040630-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3412 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8202866-8768747 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8752618 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 643 (F643S)

Ref Sequence

ENSEMBL: ENSMUSP00000120757 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064473] [ENSMUST00000123187] [ENSMUST00000135574]

Predicted Effect

probably damaging
Transcript: ENSMUST00000064473
AA Change: F643S

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000064775
Gene: ENSMUSG00000052551
AA Change: F643S

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
low complexity region	21	33	N/A	INTRINSIC
DSRM	126	190	1.03e-16	SMART
DSRM	284	346	1.24e-15	SMART
ADEAMc	366	742	5.41e-211	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000123187
AA Change: F643S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120757
Gene: ENSMUSG00000052551
AA Change: F643S

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
low complexity region	21	33	N/A	INTRINSIC
DSRM	126	190	6.1e-19	SMART
DSRM	284	346	7.3e-18	SMART
ADEAMc	366	698	2e-164	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000135574
AA Change: F643S

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115148
Gene: ENSMUSG00000052551
AA Change: F643S

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
low complexity region	21	33	N/A	INTRINSIC
DSRM	126	190	1.03e-16	SMART
DSRM	284	346	1.24e-15	SMART
ADEAMc	366	742	5.41e-211	SMART

Meta Mutation Damage Score

0.6463

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

98% (40/41)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the double-stranded RNA adenosine deaminase family of RNA-editing enzymes and may play a regulatory role in RNA editing. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap2a2	T	A	7: 141,598,776	N105K	probably benign	Het
Arhgef5	A	G	6: 43,273,790	I492V	probably benign	Het
Atp8b4	C	A	2: 126,375,757	W613L	probably damaging	Het
Ccdc162	T	C	10: 41,539,549		probably benign	Het
Diexf	A	C	1: 193,128,502	S64R	possibly damaging	Het
Esp24	T	A	17: 39,038,316	I11N	possibly damaging	Het
Exoc4	A	G	6: 33,265,975	E41G	probably damaging	Het
Eya1	T	A	1: 14,274,209		probably null	Het
Gckr	T	A	5: 31,300,867		probably null	Het
Gm4981	G	A	10: 58,236,353	T13I	possibly damaging	Het
Gria4	T	A	9: 4,513,278	D277V	probably benign	Het
Il18r1	A	T	1: 40,491,067	D318V	probably damaging	Het
Il4i1	T	C	7: 44,836,658	L22P	probably damaging	Het
Inpp5d	C	A	1: 87,668,057	T175N	possibly damaging	Het
Krt90	T	A	15: 101,560,593	L171F	probably damaging	Het
Mthfd1	A	G	12: 76,303,749		probably null	Het
Olfr262	T	C	19: 12,241,590	I24V	probably benign	Het
Olfr561	T	C	7: 102,774,755	L77P	possibly damaging	Het
Olfr635	T	C	7: 103,979,402	L76P	probably damaging	Het
Olfr786	A	T	10: 129,437,307	D165V	probably damaging	Het
Pla2g4f	T	C	2: 120,303,106	S579G	probably benign	Het
Ppef2	T	G	5: 92,228,722	S649R	probably damaging	Het
Prss43	G	C	9: 110,829,464	Q277H	probably damaging	Het
Ramp2	TTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTG	11: 101,246,545		probably benign	Het
Rusc2	T	G	4: 43,415,935	S414A	probably damaging	Het
Sez6l	A	G	5: 112,475,361	L108P	possibly damaging	Het
Slc12a5	A	G	2: 164,968,431	D10G	probably benign	Het
Slc1a7	A	G	4: 108,010,994	E497G	probably benign	Het
Sos1	T	C	17: 80,406,717	D1108G	probably benign	Het
Spag8	T	A	4: 43,651,606	S423C	probably damaging	Het
Tacc2	A	G	7: 130,734,994	T2369A	probably benign	Het
Taok2	T	C	7: 126,870,858	I933V	possibly damaging	Het
Tex9	C	A	9: 72,477,758	Q265H	possibly damaging	Het
Trim69	T	C	2: 122,178,644	V395A	probably benign	Het
Tusc1	C	A	4: 93,334,936	R162L	probably damaging	Het
Ubr5	T	C	15: 38,004,235		probably benign	Het
Zfyve28	C	T	5: 34,199,684	M723I	probably benign	Het
Zmynd8	A	T	2: 165,815,451	M533K	probably damaging	Het

Other mutations in Adarb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Adarb2	APN	13	8701725	missense	probably benign	0.00
IGL00910:Adarb2	APN	13	8672433	missense	probably damaging	1.00
IGL01308:Adarb2	APN	13	8203293	missense	possibly damaging	0.93
IGL01337:Adarb2	APN	13	8570246	missense	probably benign	0.03
IGL01508:Adarb2	APN	13	8752570	splice site	probably null
IGL01792:Adarb2	APN	13	8570149	missense	probably damaging	1.00
IGL02387:Adarb2	APN	13	8569958	missense	probably damaging	1.00
IGL02423:Adarb2	APN	13	8569720	missense	probably damaging	0.99
R0304:Adarb2	UTSW	13	8752570	splice site	probably benign
R0463:Adarb2	UTSW	13	8203188	start gained	probably benign
R0646:Adarb2	UTSW	13	8731819	missense	probably damaging	1.00
R0963:Adarb2	UTSW	13	8672415	missense	probably damaging	1.00
R1066:Adarb2	UTSW	13	8757323	missense	probably benign	0.14
R1451:Adarb2	UTSW	13	8339621	intron	probably benign
R1656:Adarb2	UTSW	13	8203251	missense	unknown
R1939:Adarb2	UTSW	13	8203322	critical splice donor site	probably null
R2212:Adarb2	UTSW	13	8752618	missense	probably damaging	1.00
R2484:Adarb2	UTSW	13	8569774	nonsense	probably null
R2993:Adarb2	UTSW	13	8713716	missense	probably benign	0.02
R3157:Adarb2	UTSW	13	8697633	missense	probably benign	0.20
R3177:Adarb2	UTSW	13	8752627	missense	probably damaging	1.00
R3277:Adarb2	UTSW	13	8752627	missense	probably damaging	1.00
R3949:Adarb2	UTSW	13	8570419	missense	probably damaging	0.97
R4505:Adarb2	UTSW	13	8697691	missense	probably damaging	1.00
R5232:Adarb2	UTSW	13	8713640	missense	possibly damaging	0.80
R5831:Adarb2	UTSW	13	8559133	missense	probably benign	0.45
R7113:Adarb2	UTSW	13	8731845	missense	probably damaging	0.99
R7252:Adarb2	UTSW	13	8570180	missense	probably benign	0.00
R7259:Adarb2	UTSW	13	8570252	missense	probably benign
R7346:Adarb2	UTSW	13	8570384	missense	probably damaging	1.00
R7422:Adarb2	UTSW	13	8757277	missense	possibly damaging	0.83
R7724:Adarb2	UTSW	13	8570256	missense	probably benign	0.34
R7733:Adarb2	UTSW	13	8752608	missense	possibly damaging	0.82
R7749:Adarb2	UTSW	13	8569739	missense	possibly damaging	0.96
Z1177:Adarb2	UTSW	13	8570200	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GTAGAACTGTGCCTTCACGC -3'
(R):5'- TTTAACCAGAGCCCAGGTACG -3'

Sequencing Primer
(F):5'- CCTTCACGCGACTGAGTGTTAAG -3'
(R):5'- GGCTAATTTTCTCCCCAGAAAGG -3'

Posted On

2015-02-18