Mutagenetix > Incidental Mutation

Incidental Mutation 'R7749:Adarb2'

597110

Institutional Source

Beutler Lab

Gene Symbol

Adarb2

Ensembl Gene

ENSMUSG00000052551

Gene Name

adenosine deaminase, RNA-specific, B2

Synonyms

RED2, Adar3

MMRRC Submission

045805-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7749 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8252902-8818783 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8619775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 87 (D87G)

Ref Sequence

ENSEMBL: ENSMUSP00000064775 (fasta)

Gene Model

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

AlphaFold

Q9JI20

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064473
AA Change: D87G

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000064775
Gene: ENSMUSG00000052551
AA Change: D87G

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

possibly damaging
Transcript: ENSMUST00000123187
AA Change: D87G

PolyPhen 2 Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000120757
Gene: ENSMUSG00000052551
AA Change: D87G

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

possibly damaging
Transcript: ENSMUST00000135574
AA Change: D87G

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115148
Gene: ENSMUSG00000052551
AA Change: D87G

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

0.0758

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (66/67)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr1a	A	T	19: 46,368,186 (GRCm39)	S254T	probably benign	Het
Adam12	G	A	7: 133,826,542 (GRCm39)	A22V	unknown	Het
Aldh6a1	A	T	12: 84,488,855 (GRCm39)	I59N	probably benign	Het
Ankrd50	C	T	3: 38,536,870 (GRCm39)	C161Y	probably damaging	Het
Ankrd7	A	G	6: 18,879,515 (GRCm39)		probably null	Het
Anks1	T	A	17: 28,257,115 (GRCm39)	I707N	probably damaging	Het
Atoh1	A	T	6: 64,706,904 (GRCm39)	M200L	possibly damaging	Het
Bmp1	C	T	14: 70,730,284 (GRCm39)	R416H	probably damaging	Het
Caprin1	A	G	2: 103,602,099 (GRCm39)	S548P	probably benign	Het
Ccdc167	T	A	17: 29,924,247 (GRCm39)	Y63F	possibly damaging	Het
Cfap99	T	A	5: 34,465,284 (GRCm39)	D174E	probably benign	Het
Chil3	T	G	3: 106,056,161 (GRCm39)	N331T	probably benign	Het
Chmp5	T	A	4: 40,949,488 (GRCm39)	I35N	probably damaging	Het
Cpt1c	A	T	7: 44,611,689 (GRCm39)	S537T	probably benign	Het
Dctn1	A	T	6: 83,163,123 (GRCm39)		probably benign	Het
Dhx57	T	A	17: 80,546,287 (GRCm39)	M1366L	probably benign	Het
Dnah9	T	A	11: 65,802,656 (GRCm39)	Y3478F	probably damaging	Het
Efna3	A	G	3: 89,223,947 (GRCm39)	Y81H	probably damaging	Het
Eif4enif1	T	C	11: 3,192,608 (GRCm39)	V812A	probably damaging	Het
Erg	A	T	16: 95,178,216 (GRCm39)	I237N	probably benign	Het
Fem1c	G	T	18: 46,657,185 (GRCm39)	N176K	probably damaging	Het
Fgd4	T	C	16: 16,293,018 (GRCm39)	Y233C	probably benign	Het
Foxd2	G	A	4: 114,765,009 (GRCm39)	A337V	unknown	Het
Gsdma2	T	C	11: 98,548,547 (GRCm39)	L433P	unknown	Het
Hmcn2	C	A	2: 31,343,045 (GRCm39)		probably null	Het
Hnrnpul2	T	C	19: 8,797,788 (GRCm39)	V48A	probably benign	Het
Hsf1	T	A	15: 76,383,387 (GRCm39)	S396T	probably benign	Het
Htr5b	G	T	1: 121,455,487 (GRCm39)	N144K	probably damaging	Het
Igkv9-120	T	C	6: 68,027,172 (GRCm39)	S29P	probably damaging	Het
Igsf10	T	A	3: 59,236,549 (GRCm39)	N1211Y	possibly damaging	Het
Kcnh1	A	C	1: 191,959,447 (GRCm39)	I334L	probably benign	Het
Laptm4b	T	C	15: 34,276,346 (GRCm39)	I158T	probably benign	Het
Mgat4f	A	T	1: 134,318,250 (GRCm39)	M341L	probably benign	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Nav3	T	C	10: 109,539,213 (GRCm39)	T2063A	probably damaging	Het
Nceh1	T	A	3: 27,261,531 (GRCm39)	D47E	probably benign	Het
Nckap5	A	G	1: 125,952,383 (GRCm39)	S1390P	probably damaging	Het
Npepps	T	G	11: 97,158,454 (GRCm39)	I104L	probably benign	Het
Numb	A	G	12: 83,848,051 (GRCm39)	S229P	not run	Het
Opn1sw	T	A	6: 29,380,168 (GRCm39)	I83F	probably benign	Het
Or13p4	T	C	4: 118,547,425 (GRCm39)	S75G	probably damaging	Het
Or5b95	A	T	19: 12,657,576 (GRCm39)	I35F	probably benign	Het
Or5l13	G	A	2: 87,779,822 (GRCm39)	H252Y	probably damaging	Het
Pigg	T	G	5: 108,484,162 (GRCm39)	C603G	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pkhd1l1	C	A	15: 44,391,133 (GRCm39)	H1504N	probably benign	Het
Plcd4	A	G	1: 74,604,292 (GRCm39)	N757D	possibly damaging	Het
Ppia	A	G	11: 6,369,569 (GRCm39)	T152A	probably benign	Het
Psmd8	G	A	7: 28,878,346 (GRCm39)		probably null	Het
Pxn	T	A	5: 115,686,575 (GRCm39)	Y356N	probably benign	Het
Rhoa	G	C	9: 108,213,914 (GRCm39)	C159S	probably damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rita1	C	T	5: 120,749,506 (GRCm39)	C69Y	probably benign	Het
Satb1	A	G	17: 52,074,961 (GRCm39)	S512P	possibly damaging	Het
Sectm1b	A	G	11: 120,945,768 (GRCm39)	I191T	possibly damaging	Het
Slc22a6	A	G	19: 8,599,260 (GRCm39)	K297R	possibly damaging	Het
Snrnp48	T	C	13: 38,405,263 (GRCm39)	Y287H	probably benign	Het
Sntg2	A	T	12: 30,276,910 (GRCm39)	C381S	probably benign	Het
Syngap1	T	A	17: 27,178,938 (GRCm39)	M649K	probably damaging	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Thap2	T	C	10: 115,212,289 (GRCm39)	I79V	probably damaging	Het
Thap7	T	C	16: 17,346,467 (GRCm39)	N172S	probably benign	Het
Ticrr	A	G	7: 79,328,844 (GRCm39)	Y661C	possibly damaging	Het
Ttn	T	C	2: 76,606,659 (GRCm39)	N18084D	probably damaging	Het
Usp48	A	T	4: 137,377,728 (GRCm39)	K1020M	probably damaging	Het
Vmn2r12	T	C	5: 109,233,920 (GRCm39)	N764S	probably damaging	Het
Vmn2r91	A	G	17: 18,356,540 (GRCm39)	I736V	possibly damaging	Het
Wfdc6b	T	A	2: 164,459,339 (GRCm39)	C134S	probably damaging	Het
Zcchc2	A	T	1: 105,946,003 (GRCm39)	D481V	probably damaging	Het
Zfp949	G	A	9: 88,451,923 (GRCm39)	G498R	probably 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
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
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'- ATTCCCCAGCCTTACAGAGC -3'
(R):5'- GTTCACTTCTACAGCCACTGCG -3'

Sequencing Primer
(F):5'- GCCTTACAGAGCAATCATTAGCCATG -3'
(R):5'- GTCTGTGACACCATTCGGTACTG -3'

Posted On

2019-11-26