Mutagenetix > Incidental Mutation

Incidental Mutation 'R0464:Adar'

71405

Institutional Source

Beutler Lab

Gene Symbol

Adar

Ensembl Gene

ENSMUSG00000027951

Gene Name

adenosine deaminase, RNA-specific

Synonyms

mZaADAR, ADAR1, Adar1p150, Adar1p110

MMRRC Submission

038664-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0464 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89622329-89660753 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89642889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 257 (C257S)

Ref Sequence

ENSEMBL: ENSMUSP00000103028 (fasta)

Gene Model

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

AlphaFold

Q99MU3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029563
AA Change: C257S

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029563
Gene: ENSMUSG00000027951
AA Change: C257S

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

possibly damaging
Transcript: ENSMUST00000098924
AA Change: C9S

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096525
Gene: ENSMUSG00000027951
AA Change: C9S

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

possibly damaging
Transcript: ENSMUST00000107405
AA Change: C257S

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103028
Gene: ENSMUSG00000027951
AA Change: C257S

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 benign
Transcript: ENSMUST00000118341

SMART Domains

Protein: ENSMUSP00000113453
Gene: ENSMUSG00000027951

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

probably benign
Transcript: ENSMUST00000121094

SMART Domains

Protein: ENSMUSP00000112969
Gene: ENSMUSG00000027951

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123691

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150637

Meta Mutation Damage Score

0.5747

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.7%

Validation Efficiency

100% (80/80)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ada	G	T	2: 163,574,884 (GRCm39)	Y84*	probably null	Het
Adgrd1	G	T	5: 129,239,714 (GRCm39)	C507F	probably damaging	Het
Atp5f1a	T	C	18: 77,867,622 (GRCm39)	Y299H	probably benign	Het
Bok	G	T	1: 93,621,935 (GRCm39)	R77L	probably damaging	Het
Cdx2	C	A	5: 147,243,283 (GRCm39)	K170N	possibly damaging	Het
Ceacam1	A	G	7: 25,171,442 (GRCm39)	S341P	possibly damaging	Het
Cfhr3	A	T	1: 139,521,683 (GRCm39)		noncoding transcript	Het
Ckap5	A	G	2: 91,409,858 (GRCm39)	I947V	probably benign	Het
Clec2i	T	C	6: 128,872,386 (GRCm39)	Y173H	probably damaging	Het
Cttnbp2	T	C	6: 18,408,690 (GRCm39)	D977G	possibly damaging	Het
Cyp2f2	C	A	7: 26,831,962 (GRCm39)	Q406K	probably benign	Het
Ddx28	A	G	8: 106,736,685 (GRCm39)	S458P	probably damaging	Het
Dppa3	T	A	6: 122,605,492 (GRCm39)		probably null	Het
Dusp10	C	A	1: 183,801,273 (GRCm39)	L347I	probably benign	Het
Fads1	C	T	19: 10,160,429 (GRCm39)	P5L	probably benign	Het
Fbxl15	A	T	19: 46,316,951 (GRCm39)	E13D	probably benign	Het
Fhit	T	A	14: 10,991,567 (GRCm38)		probably benign	Het
Fras1	G	T	5: 96,784,662 (GRCm39)	V882F	probably damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gabbr1	C	T	17: 37,361,726 (GRCm39)		probably benign	Het
Ganc	T	A	2: 120,267,175 (GRCm39)	V497D	probably benign	Het
Glt8d2	T	G	10: 82,490,564 (GRCm39)	H242P	possibly damaging	Het
Gna15	T	C	10: 81,348,338 (GRCm39)	Y131C	probably benign	Het
Gpatch8	T	C	11: 102,371,712 (GRCm39)	K609E	unknown	Het
Gprc5a	A	T	6: 135,056,413 (GRCm39)	K287*	probably null	Het
Iqub	T	A	6: 24,479,262 (GRCm39)	K427*	probably null	Het
Itpr2	C	G	6: 146,277,387 (GRCm39)	D666H	probably damaging	Het
Kcnj5	T	C	9: 32,234,269 (GRCm39)	I15M	possibly damaging	Het
Kcnn2	A	G	18: 45,693,426 (GRCm39)	E334G	probably damaging	Het
Lypd6	T	A	2: 50,080,690 (GRCm39)	I126N	probably damaging	Het
Ms4a20	A	G	19: 11,089,801 (GRCm39)	L28P	probably damaging	Het
Mtus1	T	C	8: 41,455,511 (GRCm39)	D56G	probably damaging	Het
Myo1h	A	G	5: 114,498,571 (GRCm39)	D889G	probably damaging	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Nab1	T	C	1: 52,529,174 (GRCm39)	D241G	possibly damaging	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Ncbp3	C	T	11: 72,960,647 (GRCm39)		probably benign	Het
Nek1	T	A	8: 61,525,307 (GRCm39)		probably benign	Het
Nf1	T	C	11: 79,447,615 (GRCm39)	V2452A	probably benign	Het
Nlrp1b	A	C	11: 71,109,070 (GRCm39)	S144A	probably damaging	Het
Npr2	A	T	4: 43,640,597 (GRCm39)		probably null	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	"TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC"	X: 142,526,889 (GRCm39)		probably benign	Het
Paox	T	A	7: 139,709,195 (GRCm39)		probably benign	Het
Pcdh15	T	A	10: 74,462,676 (GRCm39)		probably null	Het
Pde8b	G	A	13: 95,241,206 (GRCm39)	T202M	probably damaging	Het
Pigo	A	T	4: 43,019,814 (GRCm39)	V905D	probably benign	Het
Pik3cb	A	G	9: 98,926,796 (GRCm39)		probably null	Het
Rassf5	T	C	1: 131,139,998 (GRCm39)	N87S	probably benign	Het
Rbl1	C	A	2: 156,989,465 (GRCm39)	K1051N	probably damaging	Het
Rfx7	T	C	9: 72,525,486 (GRCm39)	V892A	probably damaging	Het
Ripply1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	TTCCTCCTCCTCCTCCTCCTCCTCCTCCT	X: 138,680,599 (GRCm39)		probably benign	Het
Rnf144b	T	A	13: 47,396,363 (GRCm39)	Y233*	probably null	Het
Safb	C	T	17: 56,913,025 (GRCm39)	R914C	probably damaging	Het
Sbf2	T	C	7: 110,063,783 (GRCm39)		probably benign	Het
Sgo2a	A	T	1: 58,039,253 (GRCm39)	K85N	probably damaging	Het
Siglec1	A	T	2: 130,921,279 (GRCm39)	C631S	probably damaging	Het
Simc1	C	T	13: 54,684,913 (GRCm39)	R50*	probably null	Het
Skint5	T	A	4: 113,392,928 (GRCm39)	M1235L	unknown	Het
Slc22a19	A	T	19: 7,660,278 (GRCm39)	N377K	probably benign	Het
Spata31d1a	A	G	13: 59,849,573 (GRCm39)	F852L	possibly damaging	Het
Spata31e3	A	G	13: 50,402,311 (GRCm39)		probably benign	Het
Srbd1	G	A	17: 86,427,430 (GRCm39)	S401F	probably damaging	Het
Stk36	C	A	1: 74,650,331 (GRCm39)	Q288K	probably damaging	Het
Styx	T	C	14: 45,609,908 (GRCm39)	S191P	probably benign	Het
Supt6	T	A	11: 78,107,164 (GRCm39)	N1214I	probably benign	Het
Tcim	T	A	8: 24,928,644 (GRCm39)	D90V	probably damaging	Het
Tdpoz1	T	A	3: 93,578,782 (GRCm39)	M1L	probably damaging	Het
Tep1	T	A	14: 51,085,141 (GRCm39)	T881S	probably benign	Het
Tlr5	C	T	1: 182,801,275 (GRCm39)	A193V	probably benign	Het
Tmem117	T	A	15: 94,612,800 (GRCm39)	F112Y	probably damaging	Het
Tnrc6c	C	T	11: 117,651,375 (GRCm39)	R1633W	probably damaging	Het
Trh	T	C	6: 92,220,649 (GRCm39)		probably null	Het
Triobp	A	G	15: 78,851,186 (GRCm39)	R447G	possibly damaging	Het
Trip6	A	G	5: 137,311,943 (GRCm39)	F46S	probably damaging	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Usp33	T	C	3: 152,081,872 (GRCm39)		probably benign	Het
Vmn2r60	A	T	7: 41,785,255 (GRCm39)	I156F	probably damaging	Het
Wdr17	T	C	8: 55,123,427 (GRCm39)		probably benign	Het
Wdr35	G	T	12: 9,077,472 (GRCm39)		probably benign	Het
Wwp1	C	T	4: 19,638,763 (GRCm39)		probably benign	Het
Zfp652	T	C	11: 95,654,475 (GRCm39)	C293R	probably 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
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
R8960:Adar	UTSW	3	89,647,516 (GRCm39)	missense	probably damaging	1.00
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'- CAGAAGGTTCTAAACCGCCTGGAAG -3'
(R):5'- TCAAGTACCAGATGGGAGGAGTTGC -3'

Sequencing Primer
(F):5'- TTTGTACTCCCTGGAAAAGAAGG -3'
(R):5'- GGAGGAGTTGCCCCTTG -3'

Posted On

2013-09-30