Mutagenetix > Incidental Mutation

Incidental Mutation 'R3277:Adarb2'

475860

Institutional Source

Beutler Lab

Gene Symbol

Adarb2

Ensembl Gene

ENSMUSG00000052551

Gene Name

adenosine deaminase, RNA-specific, B2

Synonyms

Adar3, RED2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3277 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8202866-8768747 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8752627 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 646 (N646S)

Ref Sequence

ENSEMBL: ENSMUSP00000120757 (fasta)

Gene Model

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

AlphaFold

Q9JI20

Predicted Effect

probably damaging
Transcript: ENSMUST00000064473
AA Change: N646S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000064775
Gene: ENSMUSG00000052551
AA Change: N646S

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: N646S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120757
Gene: ENSMUSG00000052551
AA Change: N646S

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: N646S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115148
Gene: ENSMUSG00000052551
AA Change: N646S

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

0.5791

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,472,100	R553G	possibly damaging	Het
Adcy8	C	T	15: 64,699,159	G1242S	probably benign	Het
Ano9	T	A	7: 141,104,124	T543S	probably damaging	Het
Btnl10	A	G	11: 58,922,390	K282E	probably benign	Het
Btnl9	T	C	11: 49,169,676	D330G	probably damaging	Het
Ccdc178	G	T	18: 22,067,652	A416E	possibly damaging	Het
Cdx2	A	T	5: 147,303,192	S225T	probably benign	Het
Clca4b	T	C	3: 144,911,359	I843M	probably benign	Het
Cntn4	G	A	6: 106,437,964		probably null	Het
Cyp4f18	T	C	8: 71,993,200	D317G	possibly damaging	Het
Dennd4a	G	T	9: 64,888,993	R767L	probably damaging	Het
Dgkb	G	A	12: 38,084,217	V41M	probably damaging	Het
Duox1	T	C	2: 122,340,116	Y1206H	probably damaging	Het
Dync1i1	T	C	6: 5,972,211		probably null	Het
Fbxw2	T	C	2: 34,822,750	T100A	probably benign	Het
Fcgbp	C	A	7: 28,091,661	H782Q	probably damaging	Het
Flg2	A	T	3: 93,214,888	Q1455L	unknown	Het
Frrs1	T	C	3: 116,899,224	F49S	probably damaging	Het
Gli3	A	T	13: 15,725,982	Q1318L	probably benign	Het
Gm5592	A	G	7: 41,288,380	E362G	probably benign	Het
Gm7104	A	T	12: 88,285,728		noncoding transcript	Het
Gpatch2l	A	G	12: 86,244,315	T91A	possibly damaging	Het
Hacd4	T	C	4: 88,437,510	H46R	probably damaging	Het
Herc2	T	C	7: 56,153,428	V2175A	probably benign	Het
Hey1	T	C	3: 8,664,891	S169G	probably benign	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Hlf	T	C	11: 90,345,835	K199E	probably damaging	Het
Hpgd	C	A	8: 56,298,413	A92E	probably damaging	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Itgad	C	A	7: 128,190,981	H651N	possibly damaging	Het
Itgav	A	G	2: 83,776,542	D409G	probably damaging	Het
Kif2a	A	G	13: 106,976,756	I455T	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lamc3	G	T	2: 31,908,625	G448C	probably damaging	Het
Ltbp1	G	A	17: 75,276,480	G425D	possibly damaging	Het
Ltbp1	T	A	17: 75,359,278		probably null	Het
Mag	C	T	7: 30,901,648		probably null	Het
Mdh1b	G	A	1: 63,711,531	T426M	possibly damaging	Het
Nr1h4	G	A	10: 89,478,788	T282I	possibly damaging	Het
Nsf	C	T	11: 103,930,752	E26K	possibly damaging	Het
Olfr1231	C	T	2: 89,303,218	V125M	possibly damaging	Het
Olfr1412	A	G	1: 92,588,813	N161S	probably benign	Het
Olfr552	T	C	7: 102,604,576	V74A	possibly damaging	Het
Padi6	A	G	4: 140,735,389	L307P	probably damaging	Het
Parp9	T	C	16: 35,948,208	S20P	probably damaging	Het
Pdcd11	T	C	19: 47,113,264	F963L	probably damaging	Het
Pwp1	C	T	10: 85,882,079	L294F	probably benign	Het
Radil	A	G	5: 142,506,856	L339P	probably damaging	Het
Raver1	G	A	9: 21,079,277	P316S	possibly damaging	Het
Rell1	A	G	5: 63,926,987		probably null	Het
Rxrg	A	G	1: 167,635,700	D257G	possibly damaging	Het
Sema4c	C	T	1: 36,549,879	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,996,601	R171W	probably damaging	Het
Spata7	A	G	12: 98,637,598	N75D	possibly damaging	Het
Ttc23l	A	G	15: 10,547,232	F99L	possibly damaging	Het
Unc13a	A	C	8: 71,629,695	C1642G	probably benign	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Wrn	A	G	8: 33,317,554	M292T	probably damaging	Het
Zfp423	A	G	8: 87,782,331	Y462H	probably damaging	Het
Zscan5b	T	A	7: 6,231,346	Y124N	possibly damaging	Het
Zswim9	T	C	7: 13,277,270	T51A	possibly 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
R3412:Adarb2	UTSW	13	8752618	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
R8683:Adarb2	UTSW	13	8757359	missense	probably damaging	1.00
R8746:Adarb2	UTSW	13	8752644	missense	probably benign	0.00
R8981:Adarb2	UTSW	13	8701617	missense	probably damaging	1.00
R9352:Adarb2	UTSW	13	8757392	missense	probably damaging	1.00
R9796:Adarb2	UTSW	13	8569816	missense	probably damaging	1.00
Z1177:Adarb2	UTSW	13	8570200	missense	probably benign	0.03

Predicted Primers

Posted On

2017-05-11