Mutagenetix > Incidental Mutation

Incidental Mutation 'R6932:Macrod2'

540071

Institutional Source

Beutler Lab

Gene Symbol

Macrod2

Ensembl Gene

ENSMUSG00000068205

Gene Name

mono-ADP ribosylhydrolase 2

Synonyms

1110033L15Rik, 2900006F19Rik, 2610107G07Rik

MMRRC Submission

045047-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6932 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140237229-142234886 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 140261833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 38 (N38I)

Ref Sequence

ENSEMBL: ENSMUSP00000041780 (fasta)

Gene Model

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

AlphaFold

Q3UYG8

Predicted Effect

probably damaging
Transcript: ENSMUST00000043836
AA Change: N38I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

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 benign
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

98% (80/82)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acads	A	T	5: 115,250,331 (GRCm39)	F198I	probably damaging	Het
Acy1	A	G	9: 106,314,826 (GRCm39)		probably null	Het
Adk	A	G	14: 21,126,376 (GRCm39)	M1V	probably null	Het
Ahi1	A	G	10: 20,839,590 (GRCm39)	D167G	probably benign	Het
Ankrd16	T	C	2: 11,791,054 (GRCm39)	V290A	possibly damaging	Het
Arhgef5	T	A	6: 43,251,351 (GRCm39)	S701T	possibly damaging	Het
Atp13a5	C	A	16: 29,100,769 (GRCm39)	M673I	probably damaging	Het
BC005624	T	C	2: 30,868,940 (GRCm39)	D78G	possibly damaging	Het
Bcat2	C	T	7: 45,238,745 (GRCm39)	H347Y	probably damaging	Het
Bpifb4	A	G	2: 153,784,547 (GRCm39)	Y85C	possibly damaging	Het
Cdc42	T	A	4: 137,049,932 (GRCm39)		probably null	Het
Cep170	G	A	1: 176,589,003 (GRCm39)	L541F	possibly damaging	Het
Cfap97d2	CA	CAA	8: 13,784,865 (GRCm39)		probably null	Het
Cgrrf1	T	A	14: 47,091,179 (GRCm39)	N234K	probably benign	Het
Ctrc	C	T	4: 141,568,879 (GRCm39)	C108Y	probably damaging	Het
Cyp2u1	C	T	3: 131,091,945 (GRCm39)	V192M	possibly damaging	Het
Dhx38	A	T	8: 110,279,307 (GRCm39)	L1013Q	probably damaging	Het
Dnah1	T	A	14: 31,009,733 (GRCm39)	N1945I	probably damaging	Het
Dnah10	C	G	5: 124,898,514 (GRCm39)	N3765K	possibly damaging	Het
Dnah17	C	A	11: 117,950,905 (GRCm39)	R2906L	possibly damaging	Het
Dnajc10	C	T	2: 80,161,680 (GRCm39)	T306I	probably benign	Het
Efemp2	T	A	19: 5,530,273 (GRCm39)	C287S	probably damaging	Het
Efna1	T	C	3: 89,180,091 (GRCm39)	R143G	probably benign	Het
Emilin1	A	C	5: 31,074,421 (GRCm39)	N221H	probably damaging	Het
Epg5	A	G	18: 77,991,824 (GRCm39)	T174A	probably benign	Het
Fam184b	T	A	5: 45,690,243 (GRCm39)		probably null	Het
Fchsd2	T	A	7: 100,926,621 (GRCm39)	C570*	probably null	Het
Gm4787	A	T	12: 81,425,974 (GRCm39)	D61E	probably benign	Het
Gm7356	C	T	17: 14,221,925 (GRCm39)	G35R	probably damaging	Het
Gm8220	A	G	14: 44,525,645 (GRCm39)	T20A	probably damaging	Het
Hivep2	C	T	10: 14,004,245 (GRCm39)	T281M	probably damaging	Het
Ighv2-9-1	A	G	12: 113,733,692 (GRCm39)	V43A	probably damaging	Het
Klhl33	A	T	14: 51,129,373 (GRCm39)	C619S	probably benign	Het
Kmt2a	A	T	9: 44,740,558 (GRCm39)		probably benign	Het
Lax1	A	G	1: 133,607,896 (GRCm39)	C282R	probably benign	Het
Lrrd1	A	G	5: 3,901,395 (GRCm39)	K567E	probably benign	Het
Luzp1	C	T	4: 136,268,124 (GRCm39)	R116*	probably null	Het
Lypd3	G	C	7: 24,337,858 (GRCm39)	G75R	probably damaging	Het
Map3k14	A	T	11: 103,132,958 (GRCm39)	I80N	probably damaging	Het
Mcm9	A	G	10: 53,496,299 (GRCm39)	S368P	probably benign	Het
Mfge8	T	C	7: 78,793,049 (GRCm39)	D139G	probably benign	Het
Mmp19	A	T	10: 128,627,523 (GRCm39)	I54F	probably benign	Het
Myo15a	G	T	11: 60,390,320 (GRCm39)	W2114L	probably damaging	Het
Myo1a	G	T	10: 127,546,327 (GRCm39)	V277L	probably benign	Het
Myoc	A	G	1: 162,466,915 (GRCm39)	D28G	probably damaging	Het
Myrf	G	T	19: 10,196,924 (GRCm39)	N487K	probably damaging	Het
Omd	T	A	13: 49,743,710 (GRCm39)	F253L	probably damaging	Het
Or2ag19	G	T	7: 106,444,009 (GRCm39)	G64*	probably null	Het
Or5t5	C	G	2: 86,616,499 (GRCm39)	L142V	probably damaging	Het
Or6n1	G	A	1: 173,917,316 (GRCm39)	A237T	probably damaging	Het
Papss1	T	G	3: 131,305,732 (GRCm39)	I238S	probably damaging	Het
Pkhd1	A	T	1: 20,632,675 (GRCm39)	F580Y	probably benign	Het
Polk	T	A	13: 96,653,189 (GRCm39)	K70N	probably damaging	Het
Ppig	T	A	2: 69,562,755 (GRCm39)	D31E	probably benign	Het
Ppp6r1	G	T	7: 4,636,291 (GRCm39)	S766R	possibly damaging	Het
Rab11fip5	T	C	6: 85,318,540 (GRCm39)	D783G	probably benign	Het
Reln	T	C	5: 22,190,855 (GRCm39)	I1511V	probably benign	Het
Rnh1	T	C	7: 140,743,096 (GRCm39)	N268S	probably damaging	Het
Rpia	A	G	6: 70,750,424 (GRCm39)	V236A	probably benign	Het
Rpl10a	G	T	17: 28,548,424 (GRCm39)	V80L	probably benign	Het
Sap130	T	G	18: 31,799,407 (GRCm39)	S295A	possibly damaging	Het
Sgms1	C	T	19: 32,120,193 (GRCm39)	V238I	probably benign	Het
Sh3tc1	A	G	5: 35,864,778 (GRCm39)	S470P	probably benign	Het
Slc25a32	A	G	15: 38,960,984 (GRCm39)	V233A	possibly damaging	Het
Slc2a2	T	C	3: 28,771,668 (GRCm39)	S158P	probably benign	Het
Slc6a2	A	G	8: 93,722,653 (GRCm39)	Y550C	probably benign	Het
Slc7a9	C	A	7: 35,151,936 (GRCm39)	T77K	probably benign	Het
Snd1	A	T	6: 28,626,100 (GRCm39)	D385V	probably benign	Het
Ssh3	A	T	19: 4,314,448 (GRCm39)	F369I	probably damaging	Het
Syk	A	G	13: 52,766,495 (GRCm39)		probably null	Het
Tbc1d16	A	G	11: 119,099,742 (GRCm39)	S211P	probably damaging	Het
Ttc3	A	G	16: 94,244,312 (GRCm39)	T1439A	probably benign	Het
Usp18	A	G	6: 121,229,473 (GRCm39)	M31V	probably benign	Het
Vav1	G	T	17: 57,609,330 (GRCm39)	E415D	possibly damaging	Het
Vps13a	A	T	19: 16,655,439 (GRCm39)	V1863D	probably benign	Het
Xdh	T	A	17: 74,229,557 (GRCm39)	I299F	probably damaging	Het
Zc3h14	A	G	12: 98,737,336 (GRCm39)		probably benign	Het
Zfp345	G	A	2: 150,315,331 (GRCm39)	H69Y	probably damaging	Het
Zfp652	G	T	11: 95,654,667 (GRCm39)	V357L	probably benign	Het
Zfp712	A	T	13: 67,188,891 (GRCm39)	Y545*	probably null	Het
Zgrf1	T	C	3: 127,353,281 (GRCm39)		probably null	Het

Other mutations in Macrod2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00574:Macrod2	APN	2	140,242,797 (GRCm39)	missense	probably damaging	0.99
IGL00661:Macrod2	APN	2	140,261,824 (GRCm39)	critical splice acceptor site	probably null
IGL00788:Macrod2	APN	2	142,052,069 (GRCm39)	splice site	probably benign
IGL00840:Macrod2	APN	2	142,018,578 (GRCm39)	missense	possibly damaging	0.53
IGL01160:Macrod2	APN	2	140,666,962 (GRCm39)	splice site	probably benign
IGL01357:Macrod2	APN	2	142,226,250 (GRCm39)	missense	probably damaging	1.00
IGL01453:Macrod2	APN	2	140,294,492 (GRCm39)	splice site	probably benign
IGL01910:Macrod2	APN	2	142,138,485 (GRCm39)	missense	probably benign	0.04
IGL02208:Macrod2	APN	2	142,216,196 (GRCm39)	missense	possibly damaging	0.55
IGL03013:Macrod2	APN	2	141,357,147 (GRCm39)	missense	probably benign	0.02
R0196:Macrod2	UTSW	2	142,018,545 (GRCm39)	missense	probably damaging	1.00
R0415:Macrod2	UTSW	2	142,052,065 (GRCm39)	critical splice donor site	probably null
R0699:Macrod2	UTSW	2	140,260,836 (GRCm39)	critical splice donor site	probably null
R0730:Macrod2	UTSW	2	142,059,594 (GRCm39)	splice site	probably benign
R1119:Macrod2	UTSW	2	140,242,826 (GRCm39)	missense	probably benign	0.00
R1124:Macrod2	UTSW	2	140,294,547 (GRCm39)	missense	probably damaging	1.00
R1422:Macrod2	UTSW	2	140,261,861 (GRCm39)	splice site	probably null
R3707:Macrod2	UTSW	2	141,652,549 (GRCm39)	missense	probably damaging	1.00
R3708:Macrod2	UTSW	2	141,652,549 (GRCm39)	missense	probably damaging	1.00
R3745:Macrod2	UTSW	2	141,652,549 (GRCm39)	missense	probably damaging	1.00
R4409:Macrod2	UTSW	2	140,260,777 (GRCm39)	missense	possibly damaging	0.66
R4666:Macrod2	UTSW	2	142,059,519 (GRCm39)	missense	probably damaging	0.99
R4782:Macrod2	UTSW	2	140,261,858 (GRCm39)	missense	possibly damaging	0.81
R4885:Macrod2	UTSW	2	140,261,985 (GRCm39)	missense	possibly damaging	0.66
R5180:Macrod2	UTSW	2	140,237,636 (GRCm39)	missense	probably damaging	1.00
R5524:Macrod2	UTSW	2	142,159,863 (GRCm39)	missense	possibly damaging	0.82
R5677:Macrod2	UTSW	2	142,018,587 (GRCm39)	missense	probably damaging	1.00
R5735:Macrod2	UTSW	2	140,260,809 (GRCm39)	missense	possibly damaging	0.66
R5750:Macrod2	UTSW	2	141,357,240 (GRCm39)	missense	probably benign	0.41
R5770:Macrod2	UTSW	2	141,074,102 (GRCm39)	intron	probably benign
R6029:Macrod2	UTSW	2	142,160,367 (GRCm39)	missense	probably damaging	0.99
R6174:Macrod2	UTSW	2	140,242,895 (GRCm39)	start codon destroyed	probably null
R6453:Macrod2	UTSW	2	142,018,545 (GRCm39)	missense	probably damaging	1.00
R6830:Macrod2	UTSW	2	140,294,602 (GRCm39)	missense	probably damaging	1.00
R6927:Macrod2	UTSW	2	142,098,441 (GRCm39)	missense	probably damaging	1.00
R7020:Macrod2	UTSW	2	142,231,795 (GRCm39)	makesense	probably null
R7886:Macrod2	UTSW	2	141,566,565 (GRCm39)	missense	probably damaging	1.00
R9245:Macrod2	UTSW	2	141,652,534 (GRCm39)	missense	probably benign	0.35
Z1176:Macrod2	UTSW	2	140,866,010 (GRCm39)	missense	probably damaging	1.00
Z1176:Macrod2	UTSW	2	140,548,128 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGAAAGTTGCTTTTCAAACTTAGAGC -3'
(R):5'- AACAAAACTGCATGTGTCTCC -3'

Sequencing Primer
(F):5'- GCTTTTCAAACTTAGAGCAGTTGG -3'
(R):5'- AACTGCATGTGTCTCCCACCC -3'

Posted On

2018-11-06