Mutagenetix > Incidental Mutation

Incidental Mutation 'R3707:Macrod2'

258739

Institutional Source

Beutler Lab

Gene Symbol

Macrod2

Ensembl Gene

ENSMUSG00000068205

Gene Name

MACRO domain containing 2

Synonyms

2900006F19Rik, 1110033L15Rik, 2610107G07Rik

MMRRC Submission

040700-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3707 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140395309-142392966 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 141810629 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 204 (T204K)

Ref Sequence

ENSEMBL: ENSMUSP00000105691 (fasta)

Gene Model

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

AlphaFold

Q3UYG8

Predicted Effect

probably damaging
Transcript: ENSMUST00000078027
AA Change: T204K

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

SMART Domains

Protein: ENSMUSP00000077174
Gene: ENSMUSG00000068205
AA Change: T204K

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: ENSMUST00000110064
AA Change: T204K

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

SMART Domains

Protein: ENSMUSP00000105691
Gene: ENSMUSG00000068205
AA Change: T204K

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: T204K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105694
Gene: ENSMUSG00000068205
AA Change: T204K

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: ENSMUST00000138786

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

97% (37/38)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
2410089E03Rik	T	C	15: 8,259,816	S2917P	unknown	Het
2810474O19Rik	C	T	6: 149,329,113	S1219L	probably damaging	Het
Avpr1a	T	A	10: 122,449,109	F102Y	probably damaging	Het
Bcs1l	A	G	1: 74,590,105		probably benign	Het
Chrng	C	T	1: 87,210,611	Q375*	probably null	Het
Cyp2d10	A	G	15: 82,403,016	F469L	possibly damaging	Het
Dennd6a	T	C	14: 26,592,391		probably benign	Het
Eef2k	C	A	7: 120,884,712	L224I	probably damaging	Het
Gm11545	T	C	11: 94,757,559		noncoding transcript	Het
Herpud1	T	A	8: 94,392,239	V207D	probably damaging	Het
Hmbox1	T	C	14: 64,896,836	Y105C	probably benign	Het
Ighv1-85	A	T	12: 116,000,216	W55R	probably damaging	Het
Lgr4	T	C	2: 109,970,754	L83P	probably damaging	Het
Lrch1	C	T	14: 74,857,997	M134I	probably damaging	Het
Mtg1	A	T	7: 140,149,804	K269M	probably damaging	Het
Nkain3	A	T	4: 20,484,920	F52L	possibly damaging	Het
Nr4a3	A	T	4: 48,056,699	Y417F	probably damaging	Het
Olfr1145	T	C	2: 87,810,176	C119R	probably damaging	Het
Olfr767	T	A	10: 129,079,385	I193F	probably benign	Het
Pappa2	A	T	1: 158,834,918	Y1162*	probably null	Het
Pdhb	T	C	14: 8,170,409	N114S	probably damaging	Het
Pigc	T	A	1: 161,971,094	M215K	probably benign	Het
Pimreg	G	A	11: 72,046,332		probably benign	Het
Ppfia4	T	C	1: 134,309,660	E967G	probably damaging	Het
Rif1	T	A	2: 52,093,580	D578E	probably damaging	Het
RP23-114B10.6	G	C	8: 69,372,416		noncoding transcript	Het
Rrbp1	G	T	2: 143,953,277	A1269E	probably benign	Het
Rufy3	G	A	5: 88,643,032	A531T	probably benign	Het
Slc22a22	C	A	15: 57,250,973	L319F	probably damaging	Het
Tapbpl	A	G	6: 125,224,695		probably null	Het
Tdrd1	T	C	19: 56,865,993	S1124P	possibly damaging	Het
Top2a	T	C	11: 98,996,825	K1286E	probably benign	Het
Top2b	T	C	14: 16,388,447	V188A	probably damaging	Het
Vmn2r4	A	T	3: 64,389,474	I630N	probably damaging	Het
Vmn2r53	T	C	7: 12,582,054	T613A	possibly damaging	Het
Zbtb40	A	G	4: 136,999,568	Y486H	probably damaging	Het
Zfp715	T	C	7: 43,311,129	T13A	probably benign	Het
Zfx	A	G	X: 94,098,807	V36A	possibly 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
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'- GCAGAACTGGTTTCACACCC -3'
(R):5'- GTCTACTTCAGCCAAATGATTACAGG -3'

Sequencing Primer
(F):5'- TGGTTTCACACCCATGTAAAAC -3'
(R):5'- GGAAAATATTTAATCCCATGCAACC -3'

Posted On

2015-01-23