Mutagenetix > Incidental Mutation

Incidental Mutation 'R1422:Macrod2'

161114

Institutional Source

Beutler Lab

Gene Symbol

Macrod2

Ensembl Gene

ENSMUSG00000068205

Gene Name

MACRO domain containing 2

Synonyms

2900006F19Rik, 1110033L15Rik, 2610107G07Rik

MMRRC Submission

039478-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1422 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140395309-142392966 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 140419941 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105688 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043836] [ENSMUST00000078027] [ENSMUST00000110061] [ENSMUST00000110061] [ENSMUST00000110062] [ENSMUST00000110063] [ENSMUST00000110064] [ENSMUST00000110067]

AlphaFold

Q3UYG8

Predicted Effect

silent
Transcript: ENSMUST00000043836

Predicted Effect

probably benign
Transcript: ENSMUST00000078027

SMART Domains

Protein: ENSMUSP00000077174
Gene: ENSMUSG00000068205

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
A1pp	71	201	5.72e-45	SMART
low complexity region	266	293	N/A	INTRINSIC
low complexity region	307	319	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000110061

SMART Domains

Protein: ENSMUSP00000105688
Gene: ENSMUSG00000068205

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
PDB:4IQY\|B	21	54	5e-13	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000110061

SMART Domains

Protein: ENSMUSP00000105688
Gene: ENSMUSG00000068205

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
PDB:4IQY\|B	21	54	5e-13	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000110062

SMART Domains

Protein: ENSMUSP00000105689
Gene: ENSMUSG00000068205

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
PDB:4IQY\|B	21	54	5e-13	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000110063

SMART Domains

Protein: ENSMUSP00000105690
Gene: ENSMUSG00000068205

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
PDB:4IQY\|B	21	107	1e-36	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000110064

SMART Domains

Protein: ENSMUSP00000105691
Gene: ENSMUSG00000068205

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
A1pp	71	201	5.72e-45	SMART
low complexity region	266	293	N/A	INTRINSIC
low complexity region	307	319	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110067

SMART Domains

Protein: ENSMUSP00000105694
Gene: ENSMUSG00000068205

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
A1pp	71	201	5.72e-45	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124403

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138485

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150460

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154505

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.2%
20x: 89.6%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,477,276	T170A	probably benign	Het
3110002H16Rik	G	A	18: 12,181,623	D87N	probably damaging	Het
4931408C20Rik	C	G	1: 26,682,466	S1211T	possibly damaging	Het
Arhgap5	T	A	12: 52,519,514	D1089E	probably damaging	Het
Atrn	T	C	2: 130,957,914	Y404H	probably damaging	Het
Becn1	T	C	11: 101,295,126	D98G	possibly damaging	Het
Coro2b	A	G	9: 62,428,947		probably null	Het
Cpne4	T	C	9: 104,900,285	I143T	probably damaging	Het
Cr2	A	G	1: 195,171,125	I35T	probably benign	Het
Ctns	T	C	11: 73,185,246	Y321C	probably damaging	Het
Cyp4f16	A	T	17: 32,542,999	M174L	probably damaging	Het
Dpy19l4	T	C	4: 11,317,168	E10G	possibly damaging	Het
Dtx3	T	A	10: 127,191,289	I339F	possibly damaging	Het
Fam184a	A	T	10: 53,675,208	M625K	probably benign	Het
Fgd6	A	G	10: 94,045,372	E696G	probably damaging	Het
Gm14685	G	T	X: 73,127,655	G218C	probably damaging	Het
Gm17535	A	G	9: 3,035,804	Y224C	probably null	Het
Gria1	T	A	11: 57,189,788	L199Q	probably benign	Het
Hk1	T	C	10: 62,296,094	D184G	probably null	Het
Ift88	T	C	14: 57,438,301		probably benign	Het
Ift88	G	A	14: 57,472,979	V403M	probably damaging	Het
Igsf1	C	A	X: 49,782,936	G737*	probably null	Het
Kif19a	A	G	11: 114,785,809	D488G	probably benign	Het
Lpcat2	T	C	8: 92,879,417	L232P	probably damaging	Het
Ly9	A	G	1: 171,601,212	V280A	probably damaging	Het
Mmp1a	A	G	9: 7,464,298		probably null	Het
Mmrn2	A	G	14: 34,396,239	H80R	probably damaging	Het
Olfr1156	G	A	2: 87,950,095	T46I	probably benign	Het
Olfr124	T	C	17: 37,805,363	Y73H	probably damaging	Het
Olfr564	G	A	7: 102,803,850	R124H	probably benign	Het
Pkd1l3	C	A	8: 109,621,708	P194H	unknown	Het
Plk2	A	G	13: 110,399,489	M576V	probably damaging	Het
Pms2	T	A	5: 143,913,705	S113T	probably damaging	Het
Ptprk	A	G	10: 28,475,280	I590V	possibly damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rad17	A	G	13: 100,645,082	L69P	probably benign	Het
Robo2	G	A	16: 73,978,448	T466M	probably damaging	Het
Sema6a	A	G	18: 47,306,431	C9R	probably benign	Het
Slc6a19	A	G	13: 73,685,869	S357P	probably benign	Het
Spock3	T	C	8: 63,143,989	I109T	possibly damaging	Het
Svs6	T	C	2: 164,317,660		probably null	Het
Tenm4	A	T	7: 96,550,051	D17V	probably damaging	Het
Trp53bp2	T	A	1: 182,446,464	M558K	probably benign	Het
Ttn	T	C	2: 76,741,670	E26293G	probably damaging	Het
Vmn1r29	A	G	6: 58,307,886	Y197C	probably damaging	Het
Wdfy3	A	T	5: 101,884,214		probably benign	Het
Zfp366	A	G	13: 99,229,296	K322E	probably damaging	Het

Other mutations in Macrod2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00574:Macrod2	APN	2	140400877	missense	probably damaging	0.99
IGL00661:Macrod2	APN	2	140419904	critical splice acceptor site	probably null
IGL00788:Macrod2	APN	2	142210149	splice site	probably benign
IGL00840:Macrod2	APN	2	142176658	missense	possibly damaging	0.53
IGL01160:Macrod2	APN	2	140825042	splice site	probably benign
IGL01357:Macrod2	APN	2	142384330	missense	probably damaging	1.00
IGL01453:Macrod2	APN	2	140452572	splice site	probably benign
IGL01910:Macrod2	APN	2	142296565	missense	probably benign	0.04
IGL02208:Macrod2	APN	2	142374276	missense	possibly damaging	0.55
IGL03013:Macrod2	APN	2	141515227	missense	probably benign	0.02
R0196:Macrod2	UTSW	2	142176625	missense	probably damaging	1.00
R0415:Macrod2	UTSW	2	142210145	critical splice donor site	probably null
R0699:Macrod2	UTSW	2	140418916	critical splice donor site	probably null
R0730:Macrod2	UTSW	2	142217674	splice site	probably benign
R1119:Macrod2	UTSW	2	140400906	missense	probably benign	0.00
R1124:Macrod2	UTSW	2	140452627	missense	probably damaging	1.00
R3707:Macrod2	UTSW	2	141810629	missense	probably damaging	1.00
R3708:Macrod2	UTSW	2	141810629	missense	probably damaging	1.00
R3745:Macrod2	UTSW	2	141810629	missense	probably damaging	1.00
R4409:Macrod2	UTSW	2	140418857	missense	possibly damaging	0.66
R4666:Macrod2	UTSW	2	142217599	missense	probably damaging	0.99
R4782:Macrod2	UTSW	2	140419938	missense	possibly damaging	0.81
R4885:Macrod2	UTSW	2	140420065	missense	possibly damaging	0.66
R5180:Macrod2	UTSW	2	140395716	missense	probably damaging	1.00
R5524:Macrod2	UTSW	2	142317943	missense	possibly damaging	0.82
R5677:Macrod2	UTSW	2	142176667	missense	probably damaging	1.00
R5735:Macrod2	UTSW	2	140418889	missense	possibly damaging	0.66
R5750:Macrod2	UTSW	2	141515320	missense	probably benign	0.41
R5770:Macrod2	UTSW	2	141232182	intron	probably benign
R6029:Macrod2	UTSW	2	142318447	missense	probably damaging	0.99
R6174:Macrod2	UTSW	2	140400975	start codon destroyed	probably null
R6453:Macrod2	UTSW	2	142176625	missense	probably damaging	1.00
R6830:Macrod2	UTSW	2	140452682	missense	probably damaging	1.00
R6927:Macrod2	UTSW	2	142256521	missense	probably damaging	1.00
R6932:Macrod2	UTSW	2	140419913	missense	probably damaging	0.97
R7020:Macrod2	UTSW	2	142389875	makesense	probably null
R7886:Macrod2	UTSW	2	141724645	missense	probably damaging	1.00
R9245:Macrod2	UTSW	2	141810614	missense	probably benign	0.35
Z1176:Macrod2	UTSW	2	141024090	missense	probably damaging	1.00
Z1176:Macrod2	UTSW	2	140706208	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTGCTTAACCATTTGACACCCTG -3'
(R):5'- AAACTGCATGTGTCTCCCACCC -3'

Sequencing Primer
(F):5'- CCCTAGAGTAGTGGAGATTCAAGTTC -3'
(R):5'- ATGTGTCTCCCACCCTTCTTG -3'

Posted On

2014-03-14