Mutagenetix > Incidental Mutation

Incidental Mutation 'R6566:Adad2'

522681

Institutional Source

Beutler Lab

Gene Symbol

Adad2

Ensembl Gene

ENSMUSG00000024266

Gene Name

adenosine deaminase domain containing 2

Synonyms

4930403J07Rik

MMRRC Submission

044690-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6566 (G1)

Quality Score

111.008

Status

Validated

Chromosome

Chromosomal Location

120339486-120343663 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 120340971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 164 (P164S)

Ref Sequence

ENSEMBL: ENSMUSP00000095964 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098361]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000098361
AA Change: P164S

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000095964
Gene: ENSMUSG00000024266
AA Change: P164S

Domain	Start	End	E-Value	Type
DSRM	94	158	4e-7	SMART
ADEAMc	185	560	2.7e-37	SMART

Meta Mutation Damage Score

0.2127

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	G	15: 91,075,321 (GRCm39)	I164T	probably damaging	Het
Adcy3	T	A	12: 4,244,324 (GRCm39)	L278H	probably damaging	Het
Aldh16a1	A	C	7: 44,792,651 (GRCm39)	D670E	probably benign	Het
Bcat1	A	G	6: 144,961,210 (GRCm39)	M131T	probably damaging	Het
Dcstamp	T	C	15: 39,617,732 (GRCm39)	F47S	possibly damaging	Het
Dsg1b	T	C	18: 20,530,499 (GRCm39)	F385L	probably damaging	Het
Exoc8	A	C	8: 125,622,783 (GRCm39)	L528R	probably damaging	Het
Fat4	T	C	3: 39,011,275 (GRCm39)	V2125A	possibly damaging	Het
Gm57859	C	T	11: 113,578,824 (GRCm39)	P73L	probably damaging	Het
Hecw1	T	C	13: 14,471,868 (GRCm39)	D600G	probably damaging	Het
Ice2	G	A	9: 69,323,511 (GRCm39)	V669I	probably benign	Het
Khdc4	C	T	3: 88,618,961 (GRCm39)	T555M	probably damaging	Het
Lsr	T	A	7: 30,671,508 (GRCm39)	Y75F	possibly damaging	Het
Mrps30	C	A	13: 118,523,662 (GRCm39)	V37L	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Or6c217	T	A	10: 129,737,947 (GRCm39)	I211L	probably benign	Het
Pign	A	G	1: 105,565,906 (GRCm39)		probably null	Het
Plcd3	A	G	11: 102,964,626 (GRCm39)	Y582H	probably damaging	Het
Rad9b	A	G	5: 122,490,630 (GRCm39)	W29R	probably damaging	Het
Rb1cc1	T	A	1: 6,319,316 (GRCm39)	F912I	probably benign	Het
Rgs16	C	T	1: 153,619,546 (GRCm39)	S184L	unknown	Het
Runx2	A	G	17: 45,125,375 (GRCm39)		probably null	Het
Serpina1f	T	A	12: 103,659,794 (GRCm39)	I163F	probably damaging	Het
Serpina9	T	C	12: 103,963,296 (GRCm39)	E404G	possibly damaging	Het
Slc4a4	T	C	5: 89,297,192 (GRCm39)	S511P	possibly damaging	Het
Speg	A	T	1: 75,365,107 (GRCm39)	E390V	probably damaging	Het
Syne3	A	G	12: 104,912,966 (GRCm39)	V614A	probably benign	Het
Tmc5	T	C	7: 118,247,067 (GRCm39)	S524P	probably damaging	Het
Tuba4a	G	A	1: 75,193,930 (GRCm39)	T51I	probably damaging	Het
Tymp	T	A	15: 89,257,803 (GRCm39)	T421S	probably benign	Het
Uvssa	A	G	5: 33,549,520 (GRCm39)	R394G	possibly damaging	Het
Wdr7	T	G	18: 63,888,126 (GRCm39)	I533S	possibly damaging	Het
Zbtb5	G	A	4: 44,994,508 (GRCm39)	T292M	probably damaging	Het
Zfp944	T	G	17: 22,558,726 (GRCm39)	K174Q	possibly damaging	Het

Other mutations in Adad2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02347:Adad2	APN	8	120,343,408 (GRCm39)	missense	probably damaging	1.00
IGL02385:Adad2	APN	8	120,341,773 (GRCm39)	splice site	probably benign
R0619:Adad2	UTSW	8	120,339,739 (GRCm39)	missense	probably benign	0.01
R3410:Adad2	UTSW	8	120,342,708 (GRCm39)	missense	probably benign
R4961:Adad2	UTSW	8	120,342,397 (GRCm39)	missense	probably damaging	0.99
R5479:Adad2	UTSW	8	120,341,654 (GRCm39)	missense	possibly damaging	0.93
R5521:Adad2	UTSW	8	120,339,528 (GRCm39)	missense	probably benign	0.43
R5610:Adad2	UTSW	8	120,341,500 (GRCm39)	missense	probably benign	0.00
R5624:Adad2	UTSW	8	120,341,844 (GRCm39)	splice site	probably null
R6237:Adad2	UTSW	8	120,342,502 (GRCm39)	missense	probably damaging	1.00
R8069:Adad2	UTSW	8	120,342,746 (GRCm39)	missense	probably benign	0.00
R8906:Adad2	UTSW	8	120,339,725 (GRCm39)	missense	probably benign	0.03
R8934:Adad2	UTSW	8	120,341,535 (GRCm39)	splice site	probably benign
R9311:Adad2	UTSW	8	120,341,986 (GRCm39)	missense	probably damaging	1.00
R9317:Adad2	UTSW	8	120,342,180 (GRCm39)	missense	probably damaging	1.00
R9340:Adad2	UTSW	8	120,339,769 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTCGACTAGAAATGGTCCAGC -3'
(R):5'- TCCATGCTGACGTCTAGGAG -3'

Sequencing Primer
(F):5'- CTGAGGGCCAGGAGACTTCTC -3'
(R):5'- TGTGGAGCTGCACACACATAC -3'

Posted On

2018-06-06