Mutagenetix > Incidental Mutation

Incidental Mutation 'R1858:Adar'

206294

Institutional Source

Beutler Lab

Gene Symbol

Adar

Ensembl Gene

ENSMUSG00000027951

Gene Name

adenosine deaminase, RNA-specific

Synonyms

mZaADAR, ADAR1, Adar1p150, Adar1p110

MMRRC Submission

039882-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1858 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89622329-89660753 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 89646589 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 338 (R338L)

Ref Sequence

ENSEMBL: ENSMUSP00000096525 (fasta)

Gene Model

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

AlphaFold

Q99MU3

Predicted Effect

probably benign
Transcript: ENSMUST00000029563
AA Change: R586L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000029563
Gene: ENSMUSG00000027951
AA Change: R586L

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 benign
Transcript: ENSMUST00000098924
AA Change: R338L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000096525
Gene: ENSMUSG00000027951
AA Change: R338L

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 benign
Transcript: ENSMUST00000107405
AA Change: R586L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000103028
Gene: ENSMUSG00000027951
AA Change: R586L

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
AA Change: R68L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000113453
Gene: ENSMUSG00000027951
AA Change: R68L

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
AA Change: R68L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000112969
Gene: ENSMUSG00000027951
AA Change: R68L

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

0.2555

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.8%
20x: 91.0%

Validation Efficiency

97% (112/116)

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	C	A	1: 12,045,177 (GRCm39)	A443E	unknown	Het
Acacb	A	T	5: 114,334,770 (GRCm39)	Y613F	probably benign	Het
Adam23	A	C	1: 63,596,615 (GRCm39)	I566L	probably benign	Het
Akap14	C	T	X: 36,420,779 (GRCm39)	A476T	probably damaging	Het
Amotl1	T	A	9: 14,486,697 (GRCm39)	Q399L	probably benign	Het
Ankrd16	T	G	2: 11,783,407 (GRCm39)	L3R	probably benign	Het
Arfgap1	G	C	2: 180,615,881 (GRCm39)	G187R	probably damaging	Het
Arhgap19	A	T	19: 41,767,592 (GRCm39)	V399D	probably benign	Het
Arl4d	A	G	11: 101,557,578 (GRCm39)	T35A	probably damaging	Het
Atr	T	A	9: 95,747,150 (GRCm39)	I144N	probably damaging	Het
Bptf	A	G	11: 106,964,127 (GRCm39)	M1574T	probably benign	Het
Cacna1h	T	A	17: 25,599,781 (GRCm39)	D1684V	probably damaging	Het
Celsr1	C	A	15: 85,916,960 (GRCm39)	V338F	probably damaging	Het
Cep164	T	C	9: 45,734,938 (GRCm39)		probably benign	Het
Clock	C	A	5: 76,388,756 (GRCm39)	G390C	possibly damaging	Het
Col6a6	A	G	9: 105,658,301 (GRCm39)	F637S	probably damaging	Het
Crebrf	T	A	17: 26,961,937 (GRCm39)	Y345N	probably benign	Het
Cstdc3	A	T	16: 36,128,449 (GRCm39)	I15F	probably damaging	Het
Cul1	A	G	6: 47,502,458 (GRCm39)		probably null	Het
Cyb5r4	C	T	9: 86,923,332 (GRCm39)	S185L	probably benign	Het
Cyp3a57	T	C	5: 145,318,059 (GRCm39)	Y347H	probably damaging	Het
Dgkq	G	T	5: 108,801,597 (GRCm39)	T487K	probably benign	Het
Dmkn	T	C	7: 30,463,990 (GRCm39)	V143A	probably benign	Het
Dmp1	A	T	5: 104,355,496 (GRCm39)	E32V	possibly damaging	Het
Dsc3	T	C	18: 20,098,773 (GRCm39)	D802G	probably damaging	Het
Dse	T	C	10: 34,029,225 (GRCm39)	T622A	probably benign	Het
Duxf4	A	G	10: 58,071,602 (GRCm39)	V204A	probably benign	Het
Dyrk1b	A	T	7: 27,882,071 (GRCm39)		probably null	Het
Ehd2	T	C	7: 15,686,113 (GRCm39)	T320A	probably benign	Het
Eif3a	A	C	19: 60,770,635 (GRCm39)	L71V	probably damaging	Het
Eif4e1b	A	G	13: 54,935,091 (GRCm39)		probably null	Het
Fam131b	A	G	6: 42,295,914 (GRCm39)	F161L	probably damaging	Het
Fam171b	A	T	2: 83,683,725 (GRCm39)	M81L	probably benign	Het
Gal3st4	T	C	5: 138,269,050 (GRCm39)		probably null	Het
Gdf11	A	T	10: 128,722,315 (GRCm39)	V180E	probably damaging	Het
Grin3a	T	A	4: 49,792,437 (GRCm39)	Y432F	probably benign	Het
Hif1a	C	A	12: 73,990,929 (GRCm39)	H708N	probably benign	Het
Hmcn2	G	T	2: 31,305,295 (GRCm39)		probably null	Het
Hs3st6	T	A	17: 24,976,973 (GRCm39)	M151K	possibly damaging	Het
Hyal2	T	A	9: 107,449,537 (GRCm39)	L431Q	probably benign	Het
Hyal6	A	T	6: 24,740,857 (GRCm39)	T337S	probably benign	Het
Igsf5	A	T	16: 96,187,829 (GRCm39)		probably null	Het
Kif13a	G	A	13: 47,018,314 (GRCm39)		probably benign	Het
Krtap19-3	G	A	16: 88,674,878 (GRCm39)		probably benign	Het
Lgalsl	T	C	11: 20,779,420 (GRCm39)	D75G	probably benign	Het
Lrrc56	A	G	7: 140,787,421 (GRCm39)	M353V	probably benign	Het
Ltbp2	T	A	12: 84,877,555 (GRCm39)	K337*	probably null	Het
Mdn1	C	T	4: 32,730,881 (GRCm39)	H2917Y	probably benign	Het
Medag	A	G	5: 149,353,259 (GRCm39)	I151M	probably damaging	Het
Meiob	T	C	17: 25,042,544 (GRCm39)	V124A	probably damaging	Het
Mmp3	A	G	9: 7,451,799 (GRCm39)	H379R	probably benign	Het
Mpg	A	G	11: 32,181,957 (GRCm39)		probably null	Het
Ncoa6	G	T	2: 155,263,559 (GRCm39)	Q292K	probably benign	Het
Ndufaf6	G	T	4: 11,053,474 (GRCm39)	H277Q	probably benign	Het
Nlrp4c	A	G	7: 6,087,655 (GRCm39)	I763V	probably benign	Het
Nlrp5	A	T	7: 23,117,586 (GRCm39)	I437F	probably damaging	Het
Noc2l	G	A	4: 156,329,727 (GRCm39)	R435Q	probably damaging	Het
Nova2	T	C	7: 18,692,326 (GRCm39)	I485T	probably damaging	Het
Nrxn2	G	A	19: 6,538,825 (GRCm39)	V794I	probably benign	Het
Nup210l	A	G	3: 90,061,806 (GRCm39)	T662A	probably damaging	Het
Or2ad1	A	T	13: 21,326,564 (GRCm39)	I221N	probably damaging	Het
Or2b28	A	G	13: 21,531,346 (GRCm39)	M83V	possibly damaging	Het
Or2p2	A	T	13: 21,256,641 (GRCm39)	F277I	probably damaging	Het
Or51aa2	G	A	7: 103,187,859 (GRCm39)	T194I	probably damaging	Het
Or51e2	A	C	7: 102,391,571 (GRCm39)	I213S	probably damaging	Het
Or51l14	G	A	7: 103,101,332 (GRCm39)	V263I	probably benign	Het
Or9g8	T	C	2: 85,607,582 (GRCm39)	L218P	probably damaging	Het
Pelp1	G	A	11: 70,285,568 (GRCm39)	P767S	probably damaging	Het
Pfdn1	C	A	18: 36,584,153 (GRCm39)	M60I	probably benign	Het
Plaat1	G	A	16: 29,036,470 (GRCm39)	G36D	probably damaging	Het
Plcxd3	T	A	15: 4,546,093 (GRCm39)		probably benign	Het
Plekhg1	C	A	10: 3,895,917 (GRCm39)	D436E	possibly damaging	Het
Ppfibp1	G	A	6: 146,892,090 (GRCm39)	V117I	probably benign	Het
Prss44	A	G	9: 110,643,177 (GRCm39)	K24R	probably benign	Het
Ptger1	G	T	8: 84,395,107 (GRCm39)	G195W	probably benign	Het
Ptgs1	A	C	2: 36,132,782 (GRCm39)	D260A	probably benign	Het
Ptprd	T	A	4: 75,865,384 (GRCm39)	T1198S	probably damaging	Het
Qsox2	A	G	2: 26,104,074 (GRCm39)	S319P	probably damaging	Het
Rab35	A	G	5: 115,778,147 (GRCm39)	I38V	probably damaging	Het
Rapgef4	A	G	2: 71,861,408 (GRCm39)	I33V	possibly damaging	Het
Rbbp8nl	C	T	2: 179,924,006 (GRCm39)		probably benign	Het
Riok1	A	T	13: 38,242,694 (GRCm39)	K473*	probably null	Het
Rtca	C	T	3: 116,287,764 (GRCm39)	G288S	probably benign	Het
Sag	A	T	1: 87,742,570 (GRCm39)	D114V	probably benign	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sec61g	A	G	11: 16,456,371 (GRCm39)		probably null	Het
Sf3a3	A	T	4: 124,623,288 (GRCm39)	I440F	probably damaging	Het
Sgta	T	C	10: 80,884,695 (GRCm39)	K205E	possibly damaging	Het
Slc36a4	A	G	9: 15,632,006 (GRCm39)	T61A	probably damaging	Het
Slc5a4a	T	C	10: 76,002,569 (GRCm39)	S242P	probably benign	Het
Srgap3	A	T	6: 112,748,479 (GRCm39)	L391Q	probably damaging	Het
Stard13	T	C	5: 151,018,903 (GRCm39)	Y60C	probably damaging	Het
Styxl2	T	C	1: 165,928,415 (GRCm39)	Y399C	possibly damaging	Het
Syt12	G	T	19: 4,497,825 (GRCm39)	H386N	probably damaging	Het
Thyn1	T	A	9: 26,915,070 (GRCm39)	M74K	probably benign	Het
Tmem130	C	A	5: 144,689,093 (GRCm39)		probably null	Het
Trim71	A	G	9: 114,392,016 (GRCm39)	V57A	possibly damaging	Het
Twf1	T	C	15: 94,483,428 (GRCm39)		probably benign	Het
Tyro3	T	A	2: 119,632,176 (GRCm39)	I81N	possibly damaging	Het
Unc13a	A	T	8: 72,105,043 (GRCm39)	C740S	probably damaging	Het
Vmn1r15	A	T	6: 57,235,616 (GRCm39)	K161N	probably benign	Het
Vmn1r16	A	T	6: 57,299,884 (GRCm39)	I246N	probably damaging	Het
Vmn1r42	A	G	6: 89,821,597 (GRCm39)	I324T	probably benign	Het
Vmn2r35	T	C	7: 7,819,805 (GRCm39)	Y155C	possibly damaging	Het
Wif1	T	A	10: 120,919,788 (GRCm39)		probably null	Het
Wscd2	G	A	5: 113,689,231 (GRCm39)	R79Q	possibly damaging	Het
Zan	G	T	5: 137,404,139 (GRCm39)		probably benign	Het
Zfp9	G	T	6: 118,442,021 (GRCm39)	H214N	probably benign	Het
Zfp985	A	T	4: 147,667,315 (GRCm39)	Y61F	probably benign	Het
Zscan30	A	G	18: 24,104,524 (GRCm39)		noncoding transcript	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
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'- CTGTGGTGAACTGACGAGTG -3'
(R):5'- AAACCTTTGTGTCCCACCAC -3'

Sequencing Primer
(F):5'- AACTGACGAGTGTCCTTAGTGTC -3'
(R):5'- TGTCCACACTGTGACCCGAC -3'

Posted On

2014-06-23