Mutagenetix > Incidental Mutation

Incidental Mutation 'R5624:Adad2'

441739

Institutional Source

Beutler Lab

Gene Symbol

Adad2

Ensembl Gene

ENSMUSG00000024266

Gene Name

adenosine deaminase domain containing 2

Synonyms

4930403J07Rik

MMRRC Submission

043163-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5624 (G1)

Quality Score

124

Status

Validated

Chromosome

Chromosomal Location

120339486-120343663 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 120341844 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000095964 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000098361

SMART Domains

Protein: ENSMUSP00000095964
Gene: ENSMUSG00000024266

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

Predicted Effect

probably null
Transcript: ENSMUST00000098361

SMART Domains

Protein: ENSMUSP00000095964
Gene: ENSMUSG00000024266

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

Meta Mutation Damage Score

0.3456

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoah	A	T	13: 21,179,649 (GRCm39)	N372I	probably damaging	Het
Ash1l	T	A	3: 88,892,916 (GRCm39)	D1598E	probably damaging	Het
Bcas2	T	C	3: 103,080,577 (GRCm39)	C72R	probably benign	Het
Car9	T	A	4: 43,509,146 (GRCm39)	F238Y	probably benign	Het
Ccnd1	T	C	7: 144,491,749 (GRCm39)	S97G	probably benign	Het
Cfap52	C	G	11: 67,818,184 (GRCm39)	C509S	possibly damaging	Het
Clcn4	C	A	7: 7,291,943 (GRCm39)	V623L	probably benign	Het
Dnajc11	T	C	4: 152,063,967 (GRCm39)	V483A	probably benign	Het
E2f8	G	T	7: 48,527,709 (GRCm39)	D144E	probably damaging	Het
Epb41l1	G	A	2: 156,375,691 (GRCm39)		probably benign	Het
Fam186a	A	C	15: 99,839,628 (GRCm39)	H2205Q	possibly damaging	Het
Fhit	A	G	14: 10,421,534 (GRCm38)	S85P	probably damaging	Het
Fzd8	G	A	18: 9,213,268 (GRCm39)	G117S	unknown	Het
Gsdmc4	A	G	15: 63,764,503 (GRCm39)	M379T	possibly damaging	Het
Hemk1	T	C	9: 107,208,727 (GRCm39)	R157G	probably benign	Het
Il10	A	G	1: 130,951,940 (GRCm39)	M158V	probably benign	Het
Jmjd1c	G	A	10: 67,069,193 (GRCm39)	M1656I	probably damaging	Het
Kit	A	T	5: 75,770,054 (GRCm39)	K155N	probably benign	Het
Lmtk3	C	A	7: 45,436,286 (GRCm39)	A114E	probably damaging	Het
Lztr1	A	G	16: 17,329,993 (GRCm39)		probably benign	Het
Mras	A	G	9: 99,293,538 (GRCm39)	F34S	probably damaging	Het
Myo1c	A	G	11: 75,553,461 (GRCm39)	T516A	probably damaging	Het
Nme8	A	C	13: 19,862,038 (GRCm39)	V197G	possibly damaging	Het
Or13p5	T	A	4: 118,592,568 (GRCm39)	Y281N	probably damaging	Het
Or8k39	T	C	2: 86,563,149 (GRCm39)	D269G	probably benign	Het
Pcdhb9	A	T	18: 37,534,459 (GRCm39)	Y151F	probably benign	Het
Pcnx2	C	T	8: 126,488,262 (GRCm39)		probably null	Het
Plekhg4	T	C	8: 106,107,382 (GRCm39)	F892S	probably damaging	Het
Prmt3	T	A	7: 49,430,082 (GRCm39)	F62I	probably damaging	Het
Ralgapa1	T	C	12: 55,659,523 (GRCm39)	Y1999C	probably damaging	Het
Rims2	A	T	15: 39,208,809 (GRCm39)	Q204L	possibly damaging	Het
Slc6a16	T	G	7: 44,910,532 (GRCm39)	H352Q	probably benign	Het
Snx9	T	A	17: 5,942,084 (GRCm39)	C70*	probably null	Het
Srprb	A	G	9: 103,074,800 (GRCm39)	I114T	probably damaging	Het
Tas2r119	A	T	15: 32,178,114 (GRCm39)	I227F	probably damaging	Het
Tasor2	A	G	13: 3,634,996 (GRCm39)	S604P	possibly damaging	Het
Tg	A	T	15: 66,709,906 (GRCm39)	Y163F	probably benign	Het
Tm2d2	A	G	8: 25,512,784 (GRCm39)	T211A	probably damaging	Het
Tmem132b	A	G	5: 125,699,710 (GRCm39)	S83G	probably benign	Het
Trav9-4	T	C	14: 53,913,886 (GRCm39)	S47P	probably benign	Het
Vmn2r8	T	A	5: 108,950,325 (GRCm39)	H174L	probably damaging	Het
Xrcc1	A	G	7: 24,259,270 (GRCm39)	D85G	possibly damaging	Het
Zfp106	C	G	2: 120,362,438 (GRCm39)	A34P	probably damaging	Het
Zfp608	A	T	18: 55,031,344 (GRCm39)	N865K	probably damaging	Het
Zscan5b	A	G	7: 6,233,518 (GRCm39)	D114G	probably benign	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
R6237:Adad2	UTSW	8	120,342,502 (GRCm39)	missense	probably damaging	1.00
R6566:Adad2	UTSW	8	120,340,971 (GRCm39)	missense	probably benign	0.13
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'- TGTACAGAGACTATCCTGACCC -3'
(R):5'- TGTGTGACCAGTAGGAGCTG -3'

Sequencing Primer
(F):5'- GAGACTATCCTGACCCACGAG -3'
(R):5'- CTGCCGGAAGAAGAACCTG -3'

Posted On

2016-11-08