Mutagenetix > Incidental Mutation

Incidental Mutation 'R2923:Mboat2'

255633

Institutional Source

Beutler Lab

Gene Symbol

Mboat2

Ensembl Gene

ENSMUSG00000020646

Gene Name

membrane bound O-acyltransferase domain containing 2

Synonyms

Oact2, 2810049G06Rik

MMRRC Submission

040508-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2923 (G1)

Quality Score

218

Status

Validated

Chromosome

Chromosomal Location

24881401-25014399 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25004239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 347 (W347R)

Ref Sequence

ENSEMBL: ENSMUSP00000106567 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078902] [ENSMUST00000110942] [ENSMUST00000221952] [ENSMUST00000222994]

AlphaFold

Q8R3I2

Predicted Effect

probably damaging
Transcript: ENSMUST00000078902
AA Change: W214R

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

SMART Domains

Protein: ENSMUSP00000077937
Gene: ENSMUSG00000020646
AA Change: W214R

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	54	76	N/A	INTRINSIC
Pfam:MBOAT	97	405	8.9e-35	PFAM
transmembrane domain	410	432	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110942
AA Change: W347R

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

SMART Domains

Protein: ENSMUSP00000106567
Gene: ENSMUSG00000020646
AA Change: W347R

Domain	Start	End	E-Value	Type
Pfam:MBOAT	21	430	2.8e-32	PFAM
transmembrane domain	442	464	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000221952
AA Change: W315R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000222994

Meta Mutation Damage Score

0.9540

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,467,518 (GRCm39)	C368S	probably damaging	Het
Adamts3	T	C	5: 90,009,393 (GRCm39)	D90G	possibly damaging	Het
Astn2	T	C	4: 65,832,010 (GRCm39)	Y500C	probably damaging	Het
Atp12a	A	T	14: 56,612,079 (GRCm39)	T418S	probably benign	Het
Atp6v0a2	C	T	5: 124,794,981 (GRCm39)	T656M	possibly damaging	Het
Camsap2	G	A	1: 136,208,547 (GRCm39)	P971S	possibly damaging	Het
Ccdc116	T	C	16: 16,960,307 (GRCm39)	H170R	probably benign	Het
Ccn5	G	A	2: 163,674,266 (GRCm39)	R222Q	probably benign	Het
Cemip2	A	G	19: 21,795,303 (GRCm39)	D732G	possibly damaging	Het
Clpb	A	G	7: 101,372,035 (GRCm39)	D257G	probably benign	Het
Cpb2	T	C	14: 75,493,473 (GRCm39)		probably null	Het
D430041D05Rik	G	A	2: 104,085,660 (GRCm39)	T164I	possibly damaging	Het
Dhx40	T	G	11: 86,680,089 (GRCm39)	Q416P	probably benign	Het
Dnah17	A	G	11: 117,984,373 (GRCm39)	F1636S	probably damaging	Het
Fhl3	T	C	4: 124,599,463 (GRCm39)	S13P	probably damaging	Het
Gapvd1	A	T	2: 34,578,875 (GRCm39)	I1249N	probably damaging	Het
Gm10604	C	T	4: 11,980,122 (GRCm39)	A61T	unknown	Het
Gm20939	T	A	17: 95,184,721 (GRCm39)	H456Q	probably damaging	Het
Golga4	T	A	9: 118,388,411 (GRCm39)	S1844R	possibly damaging	Het
Grm6	G	C	11: 50,755,348 (GRCm39)	G827R	probably damaging	Het
Grm7	T	A	6: 111,472,866 (GRCm39)		probably null	Het
Hdc	G	A	2: 126,435,910 (GRCm39)	P654S	probably damaging	Het
Hoxb1	T	C	11: 96,257,119 (GRCm39)	L156P	probably benign	Het
Ipo9	G	T	1: 135,327,867 (GRCm39)	Q515K	probably benign	Het
Kcnk3	T	C	5: 30,779,414 (GRCm39)	S155P	probably damaging	Het
Mib1	C	T	18: 10,760,831 (GRCm39)	Q374*	probably null	Het
Ncor2	A	G	5: 125,132,855 (GRCm39)	F44S	probably damaging	Het
Nipal3	A	T	4: 135,204,776 (GRCm39)	I125N	probably damaging	Het
Or4c113	A	G	2: 88,884,843 (GRCm39)	V309A	probably benign	Het
Or51a43	A	G	7: 103,717,794 (GRCm39)	V148A	probably benign	Het
Ovch2	A	G	7: 107,389,596 (GRCm39)	L317P	possibly damaging	Het
Pnpla2	T	A	7: 141,035,380 (GRCm39)	C61S	probably benign	Het
Ppp1r16b	G	T	2: 158,598,877 (GRCm39)	L312F	probably damaging	Het
Rdm1	T	A	11: 101,521,716 (GRCm39)	L157H	possibly damaging	Het
Rpl22	C	A	4: 152,412,002 (GRCm39)	T26N	possibly damaging	Het
Rptn	A	G	3: 93,306,015 (GRCm39)	Y1116C	possibly damaging	Het
Serpinb5	G	A	1: 106,803,770 (GRCm39)	S152N	probably benign	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
St8sia1	A	T	6: 142,774,963 (GRCm39)	F205L	probably damaging	Het
Stab2	A	G	10: 86,697,325 (GRCm39)	Y1988H	probably damaging	Het
Susd3	A	T	13: 49,401,945 (GRCm39)	M1K	probably null	Het
Syne3	A	T	12: 104,934,343 (GRCm39)	L55Q	probably damaging	Het
Tmx1	T	A	12: 70,512,895 (GRCm39)	C268S	probably benign	Het
Ttll1	T	C	15: 83,376,760 (GRCm39)	K321R	probably damaging	Het
Zdhhc18	G	T	4: 133,360,455 (GRCm39)	H82Q	probably benign	Het
Zhx1	T	C	15: 57,917,077 (GRCm39)	I390V	probably damaging	Het

Other mutations in Mboat2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00719:Mboat2	APN	12	24,989,353 (GRCm39)	splice site	probably benign
IGL00755:Mboat2	APN	12	25,007,645 (GRCm39)	missense	probably benign	0.20
IGL01691:Mboat2	APN	12	25,004,221 (GRCm39)	missense	probably damaging	1.00
IGL02824:Mboat2	APN	12	24,996,585 (GRCm39)	missense	probably benign	0.03
R1052:Mboat2	UTSW	12	24,996,527 (GRCm39)	missense	probably damaging	1.00
R1531:Mboat2	UTSW	12	25,009,029 (GRCm39)	missense	probably benign
R1998:Mboat2	UTSW	12	24,996,672 (GRCm39)	missense	possibly damaging	0.58
R1999:Mboat2	UTSW	12	24,996,672 (GRCm39)	missense	possibly damaging	0.58
R2069:Mboat2	UTSW	12	25,001,442 (GRCm39)	missense	probably benign
R2921:Mboat2	UTSW	12	25,004,239 (GRCm39)	missense	probably damaging	1.00
R3113:Mboat2	UTSW	12	24,932,718 (GRCm39)	missense	probably damaging	1.00
R4300:Mboat2	UTSW	12	25,009,082 (GRCm39)	missense	probably benign	0.33
R5133:Mboat2	UTSW	12	25,009,065 (GRCm39)	missense	probably benign	0.00
R5356:Mboat2	UTSW	12	25,007,572 (GRCm39)	missense	probably benign	0.24
R6084:Mboat2	UTSW	12	24,928,284 (GRCm39)	missense	probably damaging	1.00
R6184:Mboat2	UTSW	12	25,001,430 (GRCm39)	missense	possibly damaging	0.54
R6194:Mboat2	UTSW	12	24,996,637 (GRCm39)	missense	probably benign	0.07
R6281:Mboat2	UTSW	12	25,007,678 (GRCm39)	missense	probably benign	0.18
R7026:Mboat2	UTSW	12	24,998,381 (GRCm39)	critical splice donor site	probably null
R7269:Mboat2	UTSW	12	24,881,708 (GRCm39)	missense	probably benign	0.02
R7638:Mboat2	UTSW	12	24,989,325 (GRCm39)	missense	probably damaging	1.00
R7936:Mboat2	UTSW	12	25,005,392 (GRCm39)	missense	probably damaging	1.00
R8416:Mboat2	UTSW	12	24,984,609 (GRCm39)	missense	probably damaging	1.00
R8883:Mboat2	UTSW	12	25,009,033 (GRCm39)	missense
Z1176:Mboat2	UTSW	12	24,998,343 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- CAGTAAGGAACCAATGCTATGC -3'
(R):5'- CATAGGGATGCTTGTGTCTTAATTC -3'

Sequencing Primer
(F):5'- GGAACCAATGCTATGCCATTATTACC -3'
(R):5'- GAAATTCTGACTTGATGAACAGTGCC -3'

Posted On

2014-12-29