Mutagenetix > Incidental Mutation

Incidental Mutation 'R9317:Adad2'

705915

Institutional Source

Beutler Lab

Gene Symbol

Adad2

Ensembl Gene

ENSMUSG00000024266

Gene Name

adenosine deaminase domain containing 2

Synonyms

4930403J07Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9317 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120339486-120343663 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120342180 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 307 (L307P)

Ref Sequence

ENSEMBL: ENSMUSP00000095964 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000098361
AA Change: L307P

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

SMART Domains

Protein: ENSMUSP00000095964
Gene: ENSMUSG00000024266
AA Change: L307P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
C1qbp	T	C	11: 70,868,929 (GRCm39)	N278D	probably benign	Het
Cd68	C	T	11: 69,555,860 (GRCm39)		probably null	Het
Cdc37l1	T	G	19: 28,972,518 (GRCm39)	N70K	probably damaging	Het
Cyp3a57	T	C	5: 145,309,421 (GRCm39)	V253A	possibly damaging	Het
Dnmt1	A	G	9: 20,829,575 (GRCm39)	F795S	probably damaging	Het
Gli3	T	A	13: 15,889,658 (GRCm39)	S591T	probably damaging	Het
Gmeb1	A	T	4: 131,953,349 (GRCm39)	S472R	probably benign	Het
Gpr158	T	C	2: 21,832,037 (GRCm39)	S1046P	probably benign	Het
Grik5	A	G	7: 24,745,660 (GRCm39)	L471P	probably damaging	Het
Hmcn2	G	A	2: 31,350,328 (GRCm39)	R5075H	possibly damaging	Het
Hspa5	G	T	2: 34,666,070 (GRCm39)	S638I	probably benign	Het
Ilf3	A	G	9: 21,307,422 (GRCm39)	Y355C	probably damaging	Het
Kalrn	T	C	16: 33,834,045 (GRCm39)	T2366A		Het
Negr1	T	A	3: 156,904,081 (GRCm39)	C315S	probably benign	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or8b52	T	A	9: 38,576,655 (GRCm39)	M162L	probably benign	Het
Prr5	C	T	15: 84,583,324 (GRCm39)	Q110*	probably null	Het
Prune2	T	A	19: 17,099,034 (GRCm39)	S1513T	probably benign	Het
Ptprk	A	G	10: 28,230,731 (GRCm39)	E274G	probably damaging	Het
Qrfprl	A	C	6: 65,424,368 (GRCm39)	I174L	probably benign	Het
Rmdn3	G	A	2: 118,986,991 (GRCm39)	A12V	unknown	Het
Rpf1	A	G	3: 146,218,016 (GRCm39)	V166A	probably benign	Het
Senp5	A	C	16: 31,802,390 (GRCm39)	F554C	probably damaging	Het
Smarca2	T	C	19: 26,737,279 (GRCm39)	C65R	possibly damaging	Het
Sprr2j-ps	T	A	3: 92,326,178 (GRCm39)	C18S	unknown	Het
Sult2a6	A	T	7: 13,970,615 (GRCm39)	Y160*	probably null	Het
Taar8a	T	C	10: 23,952,753 (GRCm39)	V119A	probably benign	Het
Tmtc3	T	C	10: 100,301,896 (GRCm39)	K351R	probably benign	Het
Trpc1	A	G	9: 95,603,275 (GRCm39)	L419P	probably damaging	Het
Ttn	T	C	2: 76,641,699 (GRCm39)	K13466E	possibly damaging	Het
Unc13c	A	G	9: 73,447,662 (GRCm39)	F1846S	possibly damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vmn2r72	A	T	7: 85,404,022 (GRCm39)	N56K	probably benign	Het
Wdr12	C	A	1: 60,128,455 (GRCm39)	M98I	probably benign	Het
Zfp953	T	C	13: 67,491,457 (GRCm39)	Y165C	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
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
R9340:Adad2	UTSW	8	120,339,769 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TATGAGCTGGTGGCACTAGG -3'
(R):5'- TACAGGCTTCAGCTGTCCAC -3'

Sequencing Primer
(F):5'- TCCACGACTGCCATGGTCTG -3'
(R):5'- TTCAGCTGTCCACACACATGG -3'

Posted On

2022-03-25