Mutagenetix > Incidental Mutation

Incidental Mutation 'R3177:Adarb2'

259175

Institutional Source

Beutler Lab

Gene Symbol

Adarb2

Ensembl Gene

ENSMUSG00000052551

Gene Name

adenosine deaminase, RNA-specific, B2

Synonyms

RED2, Adar3

MMRRC Submission

040615-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3177 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8252902-8818783 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8802663 bp (GRCm39)

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: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

100% (21/21)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,314,020 (GRCm39)	R553G	possibly damaging	Het
Adcy8	C	T	15: 64,571,008 (GRCm39)	G1242S	probably benign	Het
Ano9	T	A	7: 140,684,037 (GRCm39)	T543S	probably damaging	Het
Btnl10	A	G	11: 58,813,216 (GRCm39)	K282E	probably benign	Het
Btnl9	T	C	11: 49,060,503 (GRCm39)	D330G	probably damaging	Het
Ccdc178	G	T	18: 22,200,709 (GRCm39)	A416E	possibly damaging	Het
Cdx2	A	T	5: 147,240,002 (GRCm39)	S225T	probably benign	Het
Clca4b	T	C	3: 144,617,120 (GRCm39)	I843M	probably benign	Het
Cntn4	G	A	6: 106,414,925 (GRCm39)		probably null	Het
Cyb561	T	C	11: 105,826,613 (GRCm39)		probably benign	Het
Cyp4f18	T	C	8: 72,747,044 (GRCm39)	D317G	possibly damaging	Het
Dennd4a	G	T	9: 64,796,275 (GRCm39)	R767L	probably damaging	Het
Dgkb	G	A	12: 38,134,216 (GRCm39)	V41M	probably damaging	Het
Duox1	T	C	2: 122,170,597 (GRCm39)	Y1206H	probably damaging	Het
Dync1i1	T	C	6: 5,972,211 (GRCm39)		probably null	Het
Fbxw2	T	C	2: 34,712,762 (GRCm39)	T100A	probably benign	Het
Fcgbp	C	A	7: 27,791,086 (GRCm39)	H782Q	probably damaging	Het
Flg2	A	T	3: 93,122,195 (GRCm39)	Q1455L	unknown	Het
Frrs1	T	C	3: 116,692,873 (GRCm39)	F49S	probably damaging	Het
Gli3	A	T	13: 15,900,567 (GRCm39)	Q1318L	probably benign	Het
Gm5581	C	G	6: 131,143,928 (GRCm39)		noncoding transcript	Het
Gm5592	A	G	7: 40,937,804 (GRCm39)	E362G	probably benign	Het
Gm7104	A	T	12: 88,252,498 (GRCm39)		noncoding transcript	Het
Gpatch2l	A	G	12: 86,291,089 (GRCm39)	T91A	possibly damaging	Het
Hacd4	T	C	4: 88,355,747 (GRCm39)	H46R	probably damaging	Het
Hao2	T	C	3: 98,787,644 (GRCm39)		probably benign	Het
Herc2	T	C	7: 55,803,176 (GRCm39)	V2175A	probably benign	Het
Hey1	T	C	3: 8,729,951 (GRCm39)	S169G	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hlf	T	C	11: 90,236,661 (GRCm39)	K199E	probably damaging	Het
Hpgd	C	A	8: 56,751,448 (GRCm39)	A92E	probably damaging	Het
Hsp90aa1	T	A	12: 110,662,114 (GRCm39)	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,662,115 (GRCm39)		probably null	Het
Itgad	C	A	7: 127,790,153 (GRCm39)	H651N	possibly damaging	Het
Itgav	A	G	2: 83,606,886 (GRCm39)	D409G	probably damaging	Het
Kif2a	A	G	13: 107,113,264 (GRCm39)	I455T	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lamc3	G	T	2: 31,798,637 (GRCm39)	G448C	probably damaging	Het
Ltbp1	G	A	17: 75,583,475 (GRCm39)	G425D	possibly damaging	Het
Ltbp1	T	A	17: 75,666,273 (GRCm39)		probably null	Het
Mag	C	T	7: 30,601,073 (GRCm39)		probably null	Het
Mdh1b	G	A	1: 63,750,690 (GRCm39)	T426M	possibly damaging	Het
Nr1h4	G	A	10: 89,314,650 (GRCm39)	T282I	possibly damaging	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Or4c1	C	T	2: 89,133,562 (GRCm39)	V125M	possibly damaging	Het
Or52k2	T	C	7: 102,253,783 (GRCm39)	V74A	possibly damaging	Het
Or9s27	A	G	1: 92,516,535 (GRCm39)	N161S	probably benign	Het
Padi6	A	G	4: 140,462,700 (GRCm39)	L307P	probably damaging	Het
Parp9	T	C	16: 35,768,578 (GRCm39)	S20P	probably damaging	Het
Pdcd11	T	C	19: 47,101,703 (GRCm39)	F963L	probably damaging	Het
Pwp1	C	T	10: 85,717,943 (GRCm39)	L294F	probably benign	Het
Radil	A	G	5: 142,492,611 (GRCm39)	L339P	probably damaging	Het
Raver1	G	A	9: 20,990,573 (GRCm39)	P316S	possibly damaging	Het
Rell1	A	G	5: 64,084,330 (GRCm39)		probably null	Het
Rxrg	A	G	1: 167,463,269 (GRCm39)	D257G	possibly damaging	Het
Sema4c	C	T	1: 36,588,960 (GRCm39)	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,872,500 (GRCm39)	R171W	probably damaging	Het
Spata7	A	G	12: 98,603,857 (GRCm39)	N75D	possibly damaging	Het
Ttc23l	A	G	15: 10,547,318 (GRCm39)	F99L	possibly damaging	Het
Unc13a	A	C	8: 72,082,339 (GRCm39)	C1642G	probably benign	Het
Usp36	C	T	11: 118,167,585 (GRCm39)		probably null	Het
Wrn	A	G	8: 33,807,582 (GRCm39)	M292T	probably damaging	Het
Zfp423	A	G	8: 88,508,959 (GRCm39)	Y462H	probably damaging	Het
Zscan5b	T	A	7: 6,234,345 (GRCm39)	Y124N	possibly damaging	Het
Zswim9	T	C	7: 13,011,196 (GRCm39)	T51A	possibly damaging	Het

Other mutations in Adarb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Adarb2	APN	13	8,751,761 (GRCm39)	missense	probably benign	0.00
IGL00910:Adarb2	APN	13	8,722,469 (GRCm39)	missense	probably damaging	1.00
IGL01308:Adarb2	APN	13	8,253,329 (GRCm39)	missense	possibly damaging	0.93
IGL01337:Adarb2	APN	13	8,620,282 (GRCm39)	missense	probably benign	0.03
IGL01508:Adarb2	APN	13	8,802,606 (GRCm39)	splice site	probably null
IGL01792:Adarb2	APN	13	8,620,185 (GRCm39)	missense	probably damaging	1.00
IGL02387:Adarb2	APN	13	8,619,994 (GRCm39)	missense	probably damaging	1.00
IGL02423:Adarb2	APN	13	8,619,756 (GRCm39)	missense	probably damaging	0.99
R0304:Adarb2	UTSW	13	8,802,606 (GRCm39)	splice site	probably benign
R0463:Adarb2	UTSW	13	8,253,224 (GRCm39)	start gained	probably benign
R0646:Adarb2	UTSW	13	8,781,855 (GRCm39)	missense	probably damaging	1.00
R0963:Adarb2	UTSW	13	8,722,451 (GRCm39)	missense	probably damaging	1.00
R1066:Adarb2	UTSW	13	8,807,359 (GRCm39)	missense	probably benign	0.14
R1451:Adarb2	UTSW	13	8,389,657 (GRCm39)	intron	probably benign
R1656:Adarb2	UTSW	13	8,253,287 (GRCm39)	missense	unknown
R1939:Adarb2	UTSW	13	8,253,358 (GRCm39)	critical splice donor site	probably null
R2212:Adarb2	UTSW	13	8,802,654 (GRCm39)	missense	probably damaging	1.00
R2484:Adarb2	UTSW	13	8,619,810 (GRCm39)	nonsense	probably null
R2993:Adarb2	UTSW	13	8,763,752 (GRCm39)	missense	probably benign	0.02
R3157:Adarb2	UTSW	13	8,747,669 (GRCm39)	missense	probably benign	0.20
R3277:Adarb2	UTSW	13	8,802,663 (GRCm39)	missense	probably damaging	1.00
R3412:Adarb2	UTSW	13	8,802,654 (GRCm39)	missense	probably damaging	1.00
R3949:Adarb2	UTSW	13	8,620,455 (GRCm39)	missense	probably damaging	0.97
R4505:Adarb2	UTSW	13	8,747,727 (GRCm39)	missense	probably damaging	1.00
R5232:Adarb2	UTSW	13	8,763,676 (GRCm39)	missense	possibly damaging	0.80
R5831:Adarb2	UTSW	13	8,609,169 (GRCm39)	missense	probably benign	0.45
R7113:Adarb2	UTSW	13	8,781,881 (GRCm39)	missense	probably damaging	0.99
R7252:Adarb2	UTSW	13	8,620,216 (GRCm39)	missense	probably benign	0.00
R7259:Adarb2	UTSW	13	8,620,288 (GRCm39)	missense	probably benign
R7346:Adarb2	UTSW	13	8,620,420 (GRCm39)	missense	probably damaging	1.00
R7422:Adarb2	UTSW	13	8,807,313 (GRCm39)	missense	possibly damaging	0.83
R7724:Adarb2	UTSW	13	8,620,292 (GRCm39)	missense	probably benign	0.34
R7733:Adarb2	UTSW	13	8,802,644 (GRCm39)	missense	possibly damaging	0.82
R7749:Adarb2	UTSW	13	8,619,775 (GRCm39)	missense	possibly damaging	0.96
R8683:Adarb2	UTSW	13	8,807,395 (GRCm39)	missense	probably damaging	1.00
R8746:Adarb2	UTSW	13	8,802,680 (GRCm39)	missense	probably benign	0.00
R8981:Adarb2	UTSW	13	8,751,653 (GRCm39)	missense	probably damaging	1.00
R9352:Adarb2	UTSW	13	8,807,428 (GRCm39)	missense	probably damaging	1.00
R9796:Adarb2	UTSW	13	8,619,852 (GRCm39)	missense	probably damaging	1.00
Z1177:Adarb2	UTSW	13	8,620,236 (GRCm39)	missense	probably benign	0.03

Predicted Primers

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

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

Posted On

2015-01-23