Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02423:Adarb2'

292797

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adarb2

Ensembl Gene

ENSMUSG00000052551

Gene Name

adenosine deaminase, RNA-specific, B2

Synonyms

RED2, Adar3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02423

Quality Score

Status

Chromosome

Chromosomal Location

8252902-8818783 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 8619756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 81 (R81W)

Ref Sequence

ENSEMBL: ENSMUSP00000115148 (fasta)

Gene Model

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

AlphaFold

Q9JI20

Predicted Effect

probably damaging
Transcript: ENSMUST00000064473
AA Change: R81W

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000064775
Gene: ENSMUSG00000052551
AA Change: R81W

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: R81W

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120757
Gene: ENSMUSG00000052551
AA Change: R81W

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: R81W

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115148
Gene: ENSMUSG00000052551
AA Change: R81W

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

Coding Region Coverage

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Abca6	A	G	11: 110,109,832 (GRCm39)		probably benign	Het
Adgrf4	T	C	17: 42,983,467 (GRCm39)	I72V	probably benign	Het
Banp	A	G	8: 122,733,830 (GRCm39)	I360V	probably benign	Het
Bmp8a	C	A	4: 123,210,220 (GRCm39)	G289C	possibly damaging	Het
Car3	A	T	3: 14,931,911 (GRCm39)	H94L	probably damaging	Het
Ccdc137	G	A	11: 120,350,927 (GRCm39)	R108H	possibly damaging	Het
Cdk14	T	C	5: 4,938,905 (GRCm39)	N411S	probably benign	Het
Col4a2	A	G	8: 11,483,800 (GRCm39)	M907V	probably benign	Het
Cyp4f17	T	A	17: 32,725,923 (GRCm39)	W19R	possibly damaging	Het
Dmxl2	A	G	9: 54,301,032 (GRCm39)	S2360P	possibly damaging	Het
Eif2d	T	G	1: 131,081,097 (GRCm39)		probably benign	Het
Epx	A	G	11: 87,762,144 (GRCm39)	I369T	possibly damaging	Het
Fcgbp	A	G	7: 27,789,378 (GRCm39)	E648G	probably benign	Het
Fer1l4	G	A	2: 155,894,827 (GRCm39)	P14L	probably benign	Het
Folr1	A	G	7: 101,507,732 (GRCm39)	F236S	probably benign	Het
Foxj2	T	G	6: 122,819,732 (GRCm39)	M540R	possibly damaging	Het
Gtf2h1	A	G	7: 46,464,824 (GRCm39)	T420A	probably benign	Het
H2-T3	T	A	17: 36,498,248 (GRCm39)	T222S	probably damaging	Het
Ice1	A	T	13: 70,740,718 (GRCm39)	M2163K	probably damaging	Het
Inppl1	A	G	7: 101,481,450 (GRCm39)	V244A	probably benign	Het
Kansl3	A	T	1: 36,391,050 (GRCm39)	V373D	probably damaging	Het
Kdm3a	A	G	6: 71,590,987 (GRCm39)		probably benign	Het
Krtap1-3	A	T	11: 99,481,680 (GRCm39)	C156S	unknown	Het
Mab21l3	T	C	3: 101,726,045 (GRCm39)	D317G	probably damaging	Het
Nherf1	A	G	11: 115,054,539 (GRCm39)		probably null	Het
Nox3	T	C	17: 3,733,191 (GRCm39)	H240R	probably damaging	Het
Nxn	A	T	11: 76,164,858 (GRCm39)	S218T	probably benign	Het
Or5h22	A	T	16: 58,894,630 (GRCm39)	I271K	probably benign	Het
Or6c35	G	A	10: 129,169,397 (GRCm39)	V216I	probably benign	Het
Pcdhb13	T	C	18: 37,577,392 (GRCm39)	V590A	possibly damaging	Het
Pim3	T	C	15: 88,747,734 (GRCm39)	V200A	probably benign	Het
Plekha3	T	C	2: 76,510,524 (GRCm39)	F20L	probably damaging	Het
Pmp22	G	T	11: 63,049,118 (GRCm39)	R120S	possibly damaging	Het
Ppp1r9a	A	C	6: 4,906,537 (GRCm39)	D364A	probably benign	Het
Psd	A	G	19: 46,302,943 (GRCm39)	F155L	possibly damaging	Het
Rbm22	T	C	18: 60,704,891 (GRCm39)		probably benign	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Ryr2	A	T	13: 11,760,084 (GRCm39)	F1556I	probably damaging	Het
Scap	G	A	9: 110,207,685 (GRCm39)	A465T	probably benign	Het
Sdf2	A	G	11: 78,141,844 (GRCm39)	S60G	probably damaging	Het
Sema3a	T	C	5: 13,615,776 (GRCm39)	I400T	probably damaging	Het
Ski	T	C	4: 155,244,191 (GRCm39)	D478G	probably damaging	Het
Slc12a7	A	T	13: 73,911,882 (GRCm39)		probably benign	Het
Sned1	A	G	1: 93,211,322 (GRCm39)	T1074A	probably benign	Het
Srebf2	A	G	15: 82,059,298 (GRCm39)	T239A	probably damaging	Het
Stk4	C	T	2: 163,928,419 (GRCm39)	H84Y	probably benign	Het
Syne1	G	T	10: 5,318,295 (GRCm39)	Q444K	probably benign	Het
Tecpr1	T	A	5: 144,140,305 (GRCm39)	I817F	possibly damaging	Het
Tep1	G	T	14: 51,082,077 (GRCm39)	Q1159K	possibly damaging	Het
Tmem39b	G	A	4: 129,572,442 (GRCm39)	H387Y	probably damaging	Het
Tpp1	T	C	7: 105,398,907 (GRCm39)	H174R	probably damaging	Het
Ttn	C	T	2: 76,535,617 (GRCm39)	V35134I	probably benign	Het
Usp34	A	G	11: 23,304,900 (GRCm39)	I378V	probably benign	Het
Vinac1	T	C	2: 128,889,968 (GRCm39)	E42G	probably benign	Het
Vmn2r1	T	A	3: 63,997,665 (GRCm39)	H440Q	probably benign	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Zcchc7	T	A	4: 44,931,244 (GRCm39)	D144E	possibly damaging	Het
Zic4	C	A	9: 91,266,228 (GRCm39)	H284N	probably damaging	Het
Zkscan6	A	G	11: 65,719,120 (GRCm39)	H380R	probably benign	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
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
R3177:Adarb2	UTSW	13	8,802,663 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16