Mutagenetix > Incidental Mutation

Incidental Mutation 'R6830:Macrod2'

534331

Institutional Source

Beutler Lab

Gene Symbol

Macrod2

Ensembl Gene

ENSMUSG00000068205

Gene Name

MACRO domain containing 2

Synonyms

2900006F19Rik, 1110033L15Rik, 2610107G07Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6830 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140395309-142392966 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 140452682 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 89 (N89K)

Ref Sequence

ENSEMBL: ENSMUSP00000105694 (fasta)

Gene Model

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

AlphaFold

Q3UYG8

Predicted Effect

probably damaging
Transcript: ENSMUST00000078027
AA Change: N89K

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

SMART Domains

Protein: ENSMUSP00000077174
Gene: ENSMUSG00000068205
AA Change: N89K

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 damaging
Transcript: ENSMUST00000110063
AA Change: N89K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105690
Gene: ENSMUSG00000068205
AA Change: N89K

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 damaging
Transcript: ENSMUST00000110064
AA Change: N89K

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

SMART Domains

Protein: ENSMUSP00000105691
Gene: ENSMUSG00000068205
AA Change: N89K

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 damaging
Transcript: ENSMUST00000110067
AA Change: N89K

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

SMART Domains

Protein: ENSMUSP00000105694
Gene: ENSMUSG00000068205
AA Change: N89K

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

Meta Mutation Damage Score

0.7754

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,176,184	S135P	probably benign	Het
4930503B20Rik	T	C	3: 146,650,961	D64G	possibly damaging	Het
Amtn	T	C	5: 88,378,097	L40P	probably damaging	Het
Ano6	A	G	15: 95,894,461	R90G	probably damaging	Het
Arfgef3	A	C	10: 18,664,889		probably null	Het
Asxl3	C	T	18: 22,525,388	P2152S	probably benign	Het
Atp7b	A	T	8: 22,022,365	V494E	probably damaging	Het
Bik	T	A	15: 83,544,208	Y146N	probably benign	Het
C1qtnf7	A	T	5: 43,609,094	I12F	possibly damaging	Het
Cacna1e	A	G	1: 154,413,974		probably null	Het
Ccnj	A	G	19: 40,845,192	E231G	probably damaging	Het
Cd101	T	C	3: 100,993,696	K1020R	probably benign	Het
Cdh6	C	A	15: 13,044,774	V421L	probably benign	Het
Decr1	T	C	4: 15,924,355		probably null	Het
Dmxl1	C	T	18: 49,921,024	P2566S	probably damaging	Het
Dock9	G	A	14: 121,622,918	P866L	probably damaging	Het
Epx	A	G	11: 87,868,626	F546L	probably damaging	Het
Fat4	T	A	3: 38,981,817	M3206K	probably benign	Het
Fgb	T	C	3: 83,045,025	D179G	probably benign	Het
Gbgt1	A	G	2: 28,505,208	D286G	probably damaging	Het
Gm8251	A	G	1: 44,056,730	V1736A	probably benign	Het
Gpn1	T	A	5: 31,507,488	S285R	probably benign	Het
Htt	T	A	5: 34,834,326	Y1212N	possibly damaging	Het
Kcnj13	T	C	1: 87,387,023	K159R	probably damaging	Het
Ldb2	T	A	5: 44,541,857	I80F	probably damaging	Het
Mdga2	G	A	12: 66,723,001	R173C	probably damaging	Het
Mroh9	A	G	1: 163,076,366	F26L	probably benign	Het
Neil3	G	T	8: 53,599,479	N361K	probably benign	Het
Nepro	A	G	16: 44,731,357	R193G	probably damaging	Het
Olfr653	T	A	7: 104,580,240	I198N	probably damaging	Het
Pclo	A	T	5: 14,681,099	Q3205L	unknown	Het
Plekhm1	A	T	11: 103,376,889	I752N	probably damaging	Het
Podn	T	C	4: 108,021,417	T273A	possibly damaging	Het
Prep	T	A	10: 45,097,501	M235K	probably benign	Het
Ptprc	A	T	1: 138,072,255		probably null	Het
Reg2	A	G	6: 78,407,642	H119R	possibly damaging	Het
Rpe65	T	C	3: 159,614,168	V225A	probably benign	Het
Scn9a	T	C	2: 66,568,029	D79G	probably damaging	Het
Slc25a23	G	A	17: 57,053,804	R9*	probably null	Het
Snai3	A	G	8: 122,456,473	L111P	probably damaging	Het
Stk38	A	G	17: 29,000,007		probably null	Het
Stk38l	A	T	6: 146,766,771	I115F	possibly damaging	Het
Tmco6	T	A	18: 36,738,353		probably null	Het
Tollip	A	T	7: 141,898,714	M1K	probably null	Het
Trim40	T	C	17: 36,888,850	Y112C	possibly damaging	Het
Ttc27	T	A	17: 74,856,555	Y719*	probably null	Het
Ubald1	T	C	16: 4,879,720	D6G	probably damaging	Het
Vmn2r59	A	T	7: 42,043,747	S476R	probably benign	Het
Wfdc3	C	T	2: 164,734,258	G38R	possibly damaging	Het
Zbtb21	C	T	16: 97,951,961	G402D	probably damaging	Het
Zfp84	A	G	7: 29,776,486	Y201C	probably benign	Het
Zswim2	T	A	2: 83,939,684	H62L	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
R1422:Macrod2	UTSW	2	140419941	splice site	probably null
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
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	140706208	missense	probably damaging	1.00
Z1176:Macrod2	UTSW	2	141024090	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGCACACAGATGAGTACACAC -3'
(R):5'- GCATGAAACCAGTAATCATTTAGCG -3'

Sequencing Primer
(F):5'- GCACACAGATGAGTACACACAAGAAG -3'
(R):5'- GCGACTAAAATTCTTTCTGAAGAGC -3'

Posted On

2018-09-12