Mutagenetix > Incidental Mutation

Incidental Mutation 'R8960:Adar'

682264

Institutional Source

Beutler Lab

Gene Symbol

Adar

Ensembl Gene

ENSMUSG00000027951

Gene Name

adenosine deaminase, RNA-specific

Synonyms

mZaADAR, ADAR1, Adar1p150, Adar1p110

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8960 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89622329-89660753 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89647516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 165 (Y165C)

Ref Sequence

ENSEMBL: ENSMUSP00000113453 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029563] [ENSMUST00000098924] [ENSMUST00000107405] [ENSMUST00000118341] [ENSMUST00000121094]

AlphaFold

Q99MU3

Predicted Effect

probably damaging
Transcript: ENSMUST00000029563
AA Change: Y683C

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

SMART Domains

Protein: ENSMUSP00000029563
Gene: ENSMUSG00000027951
AA Change: Y683C

Domain	Start	End	E-Value	Type
Zalpha	134	203	8.97e-30	SMART
Zalpha	244	312	7.69e-29	SMART
low complexity region	322	337	N/A	INTRINSIC
low complexity region	347	359	N/A	INTRINSIC
DSRM	457	523	3.6e-21	SMART
DSRM	568	634	4.36e-20	SMART
DSRM	676	742	1.58e-17	SMART
ADEAMc	762	1145	3.74e-205	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000098924
AA Change: Y435C

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

SMART Domains

Protein: ENSMUSP00000096525
Gene: ENSMUSG00000027951
AA Change: Y435C

Domain	Start	End	E-Value	Type
Zalpha	1	64	3.1e-24	SMART
low complexity region	74	89	N/A	INTRINSIC
low complexity region	99	111	N/A	INTRINSIC
DSRM	209	275	3.6e-21	SMART
DSRM	320	386	4.36e-20	SMART
DSRM	428	494	1.58e-17	SMART
low complexity region	515	526	N/A	INTRINSIC
ADEAMc	540	923	3.74e-205	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107405
AA Change: Y683C

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

SMART Domains

Protein: ENSMUSP00000103028
Gene: ENSMUSG00000027951
AA Change: Y683C

Domain	Start	End	E-Value	Type
Zalpha	134	203	8.97e-30	SMART
Zalpha	244	312	7.69e-29	SMART
low complexity region	322	337	N/A	INTRINSIC
low complexity region	347	359	N/A	INTRINSIC
DSRM	457	523	3.6e-21	SMART
DSRM	568	634	4.36e-20	SMART
DSRM	676	742	1.58e-17	SMART
low complexity region	763	774	N/A	INTRINSIC
ADEAMc	788	1171	3.74e-205	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000118341
AA Change: Y165C

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

SMART Domains

Protein: ENSMUSP00000113453
Gene: ENSMUSG00000027951
AA Change: Y165C

Domain	Start	End	E-Value	Type
DSRM	50	116	4.36e-20	SMART
DSRM	158	224	1.58e-17	SMART
low complexity region	245	256	N/A	INTRINSIC
ADEAMc	270	653	3.74e-205	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000112969
Gene: ENSMUSG00000027951
AA Change: Y165C

Domain	Start	End	E-Value	Type
DSRM	50	116	4.36e-20	SMART
DSRM	158	224	1.58e-17	SMART
ADEAMc	244	627	3.74e-205	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

100% (78/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
PHENOTYPE: Homozygous null mice die during gestation. Inactivation of this locus has been associated with increased apoptosis and, in some lines, defects in both primitive and definitive hematopoiesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	G	A	9: 44,186,063 (GRCm39)	Q603*	probably null	Het
Afp	A	G	5: 90,651,500 (GRCm39)	T372A	probably benign	Het
Asah1	T	A	8: 41,800,061 (GRCm39)	L184F	probably damaging	Het
Bltp1	A	G	3: 37,067,132 (GRCm39)	E3548G	probably damaging	Het
Bpifb2	A	T	2: 153,731,046 (GRCm39)	I206F	possibly damaging	Het
Btn1a1	C	A	13: 23,648,741 (GRCm39)	D31Y	possibly damaging	Het
C4b	T	A	17: 34,952,892 (GRCm39)	D1110V	probably damaging	Het
Ccdc162	T	A	10: 41,429,178 (GRCm39)	D1901V	probably damaging	Het
Cd101	A	G	3: 100,910,817 (GRCm39)	V947A	probably benign	Het
Cd55b	A	T	1: 130,338,375 (GRCm39)	S238T	possibly damaging	Het
Cdc25c	T	C	18: 34,866,329 (GRCm39)	I437V	possibly damaging	Het
Cfap97	T	C	8: 46,623,605 (GRCm39)	S332P	probably damaging	Het
Chpf	A	G	1: 75,452,398 (GRCm39)	L352P	probably damaging	Het
Cntln	T	A	4: 85,018,961 (GRCm39)	M1217K	possibly damaging	Het
Cntrl	A	G	2: 35,052,053 (GRCm39)	E1629G	possibly damaging	Het
Csnk1g2	T	C	10: 80,474,396 (GRCm39)	Y206H	probably damaging	Het
Cyp2c55	T	A	19: 38,995,547 (GRCm39)	W20R	probably null	Het
Dhx35	A	T	2: 158,657,393 (GRCm39)	H130L	possibly damaging	Het
Dnm1	A	G	2: 32,202,741 (GRCm39)	V54A	probably damaging	Het
Eea1	T	A	10: 95,864,381 (GRCm39)	S967T	probably benign	Het
Efcab3	A	G	11: 104,820,772 (GRCm39)		probably benign	Het
Elf3	A	T	1: 135,182,813 (GRCm39)	I304N	probably damaging	Het
Eps8l1	G	T	7: 4,481,214 (GRCm39)	R672L	probably damaging	Het
Fam163a	A	T	1: 155,954,862 (GRCm39)	C96*	probably null	Het
Fancd2	T	C	6: 113,540,129 (GRCm39)		probably null	Het
Fbxo3	C	T	2: 103,858,274 (GRCm39)	L23F	possibly damaging	Het
Fbxw14	A	G	9: 109,114,367 (GRCm39)	V121A	possibly damaging	Het
Fgd6	T	A	10: 93,880,868 (GRCm39)	V574D	probably benign	Het
Gask1b	T	C	3: 79,794,293 (GRCm39)	S254P	probably benign	Het
Gbp11	A	G	5: 105,479,251 (GRCm39)	F124S	probably damaging	Het
Grin1	A	T	2: 25,195,428 (GRCm39)		probably benign	Het
Grm2	T	G	9: 106,531,345 (GRCm39)	E48A	probably benign	Het
H2-M10.5	T	A	17: 37,084,770 (GRCm39)	Y165N	probably benign	Het
Hoxa13	A	C	6: 52,236,976 (GRCm39)	S172A	probably benign	Het
Ifih1	T	A	2: 62,442,235 (GRCm39)	K376N	possibly damaging	Het
Insrr	C	A	3: 87,720,386 (GRCm39)	T1008K	probably damaging	Het
Itih1	A	G	14: 30,655,414 (GRCm39)	S594P	probably damaging	Het
Kidins220	T	C	12: 25,106,914 (GRCm39)	S1365P	probably benign	Het
Malrd1	A	T	2: 15,570,241 (GRCm39)	K158*	probably null	Het
Man2c1	G	A	9: 57,045,279 (GRCm39)	G504R	probably damaging	Het
Mbd1	T	C	18: 74,406,890 (GRCm39)		probably null	Het
Micall2	G	A	5: 139,702,025 (GRCm39)	A323V	probably benign	Het
Mroh9	A	C	1: 162,883,196 (GRCm39)	F428V	probably benign	Het
Myo7b	T	A	18: 32,127,299 (GRCm39)		probably benign	Het
Niban1	A	T	1: 151,591,463 (GRCm39)	H535L	possibly damaging	Het
Obscn	A	T	11: 58,922,438 (GRCm39)	V6567E	probably damaging	Het
Or1e28-ps1	A	C	11: 73,615,230 (GRCm39)	S207A	unknown	Het
Or1e33	A	T	11: 73,738,167 (GRCm39)	C261*	probably null	Het
Or2g25	T	A	17: 37,970,760 (GRCm39)	T155S	probably benign	Het
Or2y1d	A	T	11: 49,321,543 (GRCm39)	Q80L	probably benign	Het
Or5h25	T	A	16: 58,930,555 (GRCm39)	R139S	probably benign	Het
Or8b53	A	T	9: 38,667,385 (GRCm39)	I134F	possibly damaging	Het
Pde4dip	T	C	3: 97,700,464 (GRCm39)	D238G	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Pgbd5	T	A	8: 125,111,175 (GRCm39)	Y172F	probably benign	Het
Pkd1	A	G	17: 24,795,176 (GRCm39)	T2288A	probably damaging	Het
Ppp6r2	T	A	15: 89,137,239 (GRCm39)	M1K	probably null	Het
Rc3h1	A	G	1: 160,774,164 (GRCm39)	T344A	probably damaging	Het
Rgs5	T	C	1: 169,504,461 (GRCm39)	V37A	possibly damaging	Het
Rgs9	A	G	11: 109,139,815 (GRCm39)	S17P	possibly damaging	Het
Rusc1	T	A	3: 88,991,865 (GRCm39)	D407V	probably damaging	Het
Rwdd1	T	A	10: 33,895,383 (GRCm39)	I18F	possibly damaging	Het
Satb2	C	T	1: 56,910,470 (GRCm39)		probably null	Het
Sds	A	G	5: 120,621,659 (GRCm39)	E267G	probably damaging	Het
Sema4b	T	A	7: 79,875,076 (GRCm39)	V822E	probably damaging	Het
Sfxn5	A	T	6: 85,266,176 (GRCm39)	M107K	probably damaging	Het
Slc5a8	C	T	10: 88,722,035 (GRCm39)		probably benign	Het
Sorbs1	T	C	19: 40,387,048 (GRCm39)	D6G	probably damaging	Het
Syt14	A	C	1: 192,666,515 (GRCm39)		probably benign	Het
Vmn2r124	T	G	17: 18,283,291 (GRCm39)	Y328*	probably null	Het
Vmn2r86	T	A	10: 130,289,672 (GRCm39)	E74D	probably benign	Het
Vmo1	A	C	11: 70,404,476 (GRCm39)	L175W	probably damaging	Het
Vps13a	G	T	19: 16,683,247 (GRCm39)	L982I	possibly damaging	Het
Wdr19	T	C	5: 65,398,211 (GRCm39)	V812A	probably benign	Het
Wdr27	T	C	17: 15,103,908 (GRCm39)	I733V	probably benign	Het
Wdr54	A	T	6: 83,132,739 (GRCm39)	H38Q	probably damaging	Het
Wdr76	G	A	2: 121,341,104 (GRCm39)	V50I	probably damaging	Het
Zfp930	T	A	8: 69,680,541 (GRCm39)	N59K	probably damaging	Het
Zfyve9	T	C	4: 108,501,558 (GRCm39)	N1218S	possibly damaging	Het

Other mutations in Adar

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01726:Adar	APN	3	89,638,147 (GRCm39)	critical splice donor site	probably null
IGL01743:Adar	APN	3	89,652,747 (GRCm39)	nonsense	probably null
IGL01982:Adar	APN	3	89,645,397 (GRCm39)	missense	probably benign	0.03
Derrick	UTSW	3	89,643,474 (GRCm39)	missense	probably damaging	1.00
Hellfire	UTSW	3	89,654,882 (GRCm39)	missense	probably damaging	1.00
logimen	UTSW	3	89,638,121 (GRCm39)	missense	probably benign	0.04
red	UTSW	3	89,657,958 (GRCm39)	missense	probably damaging	1.00
R0153:Adar	UTSW	3	89,638,121 (GRCm39)	missense	probably benign	0.04
R0464:Adar	UTSW	3	89,642,889 (GRCm39)	missense	possibly damaging	0.90
R0674:Adar	UTSW	3	89,657,130 (GRCm39)	intron	probably benign
R0762:Adar	UTSW	3	89,647,290 (GRCm39)	splice site	probably benign
R1567:Adar	UTSW	3	89,643,088 (GRCm39)	missense	probably benign	0.19
R1807:Adar	UTSW	3	89,642,172 (GRCm39)	missense	probably benign	0.00
R1858:Adar	UTSW	3	89,646,589 (GRCm39)	missense	probably benign	0.01
R1964:Adar	UTSW	3	89,653,202 (GRCm39)	missense	probably benign	0.23
R2440:Adar	UTSW	3	89,642,161 (GRCm39)	missense	possibly damaging	0.86
R3731:Adar	UTSW	3	89,653,962 (GRCm39)	missense	probably damaging	0.99
R3854:Adar	UTSW	3	89,643,565 (GRCm39)	missense	probably damaging	1.00
R4005:Adar	UTSW	3	89,657,094 (GRCm39)	missense	probably damaging	1.00
R4105:Adar	UTSW	3	89,647,401 (GRCm39)	missense	probably benign	0.00
R4693:Adar	UTSW	3	89,643,247 (GRCm39)	missense	probably damaging	1.00
R4980:Adar	UTSW	3	89,638,121 (GRCm39)	missense	probably benign	0.04
R5096:Adar	UTSW	3	89,654,598 (GRCm39)	makesense	probably null
R5199:Adar	UTSW	3	89,653,251 (GRCm39)	missense	probably damaging	1.00
R5397:Adar	UTSW	3	89,642,626 (GRCm39)	missense	probably benign
R5406:Adar	UTSW	3	89,643,418 (GRCm39)	missense	probably damaging	1.00
R5411:Adar	UTSW	3	89,646,519 (GRCm39)	missense	probably benign	0.39
R5446:Adar	UTSW	3	89,647,486 (GRCm39)	missense	probably damaging	1.00
R5660:Adar	UTSW	3	89,642,901 (GRCm39)	missense	probably damaging	1.00
R5724:Adar	UTSW	3	89,642,476 (GRCm39)	missense	probably benign
R6087:Adar	UTSW	3	89,652,897 (GRCm39)	missense	probably benign	0.05
R6935:Adar	UTSW	3	89,654,525 (GRCm39)	missense	probably benign	0.00
R7644:Adar	UTSW	3	89,652,826 (GRCm39)	missense	probably benign	0.00
R7893:Adar	UTSW	3	89,657,958 (GRCm39)	missense	probably damaging	1.00
R8018:Adar	UTSW	3	89,654,882 (GRCm39)	missense	probably damaging	1.00
R8053:Adar	UTSW	3	89,654,592 (GRCm39)	missense	probably damaging	1.00
R8353:Adar	UTSW	3	89,657,569 (GRCm39)	missense	possibly damaging	0.92
R8424:Adar	UTSW	3	89,643,301 (GRCm39)	missense	probably damaging	1.00
R8466:Adar	UTSW	3	89,658,466 (GRCm39)	missense	probably damaging	1.00
R8694:Adar	UTSW	3	89,642,950 (GRCm39)	missense	probably damaging	1.00
R8791:Adar	UTSW	3	89,643,445 (GRCm39)	missense	probably benign	0.08
R9022:Adar	UTSW	3	89,643,045 (GRCm39)	missense	probably benign	0.13
R9108:Adar	UTSW	3	89,643,474 (GRCm39)	missense	probably damaging	1.00
R9320:Adar	UTSW	3	89,658,368 (GRCm39)	nonsense	probably null
R9599:Adar	UTSW	3	89,654,516 (GRCm39)	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- CGTGGGCAAATAGGGTTGTC -3'
(R):5'- ACCTAAAGTCTTCATTATGCCTGG -3'

Sequencing Primer
(F):5'- CAAATAGGGTTGTCTTTGAGTCCCTC -3'
(R):5'- ATGCCTGGCAGACAATTTGC -3'

Posted On

2021-08-31