Mutagenetix > Incidental Mutation

Incidental Mutation 'R6194:Mboat2'

502801

Institutional Source

Beutler Lab

Gene Symbol

Mboat2

Ensembl Gene

ENSMUSG00000020646

Gene Name

membrane bound O-acyltransferase domain containing 2

Synonyms

Oact2, 2810049G06Rik

MMRRC Submission

044334-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6194 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24881401-25014399 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24996637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 213 (S213R)

Ref Sequence

ENSEMBL: ENSMUSP00000106567 (fasta)

Gene Model

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

AlphaFold

Q8R3I2

Predicted Effect

probably benign
Transcript: ENSMUST00000078902
AA Change: S80R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000077937
Gene: ENSMUSG00000020646
AA Change: S80R

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 benign
Transcript: ENSMUST00000110942
AA Change: S213R

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000106567
Gene: ENSMUSG00000020646
AA Change: S213R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000221952
AA Change: S181R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000222994

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031410I06Rik	T	C	5: 26,309,033 (GRCm39)	I90V	probably benign	Het
Afap1l2	T	A	19: 56,911,383 (GRCm39)	R370S	probably damaging	Het
Alcam	A	G	16: 52,088,761 (GRCm39)	Y537H	probably damaging	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Asap1	A	G	15: 64,001,058 (GRCm39)	S508P	probably damaging	Het
Atg5	T	C	10: 44,170,612 (GRCm39)	L86P	probably damaging	Het
Atp13a5	G	A	16: 29,127,057 (GRCm39)	P502S	probably damaging	Het
AW209491	T	A	13: 14,811,705 (GRCm39)	I186K	possibly damaging	Het
Baz1b	T	C	5: 135,272,744 (GRCm39)	Y1354H	probably damaging	Het
Card6	A	T	15: 5,127,926 (GRCm39)	S1157T	unknown	Het
Chil6	A	G	3: 106,312,192 (GRCm39)		probably null	Het
Chrna1	A	G	2: 73,400,816 (GRCm39)	V238A	probably benign	Het
Cluap1	A	G	16: 3,747,770 (GRCm39)	S308G	probably benign	Het
Cntnap4	A	G	8: 113,602,061 (GRCm39)	D1155G	probably damaging	Het
Cptp	A	G	4: 155,951,098 (GRCm39)	F123L	probably damaging	Het
Elapor1	T	C	3: 108,373,095 (GRCm39)	I600V	probably benign	Het
Fbxw2	G	A	2: 34,697,416 (GRCm39)	T317I	probably damaging	Het
Gc	A	T	5: 89,589,438 (GRCm39)	V197E	probably benign	Het
Gusb	C	T	5: 130,018,906 (GRCm39)	V577M	possibly damaging	Het
Hectd1	A	T	12: 51,795,228 (GRCm39)	N2400K	probably damaging	Het
Hnrnph1	T	A	11: 50,274,104 (GRCm39)	D340E	possibly damaging	Het
Hs3st1	C	A	5: 39,771,748 (GRCm39)	K298N	probably damaging	Het
Hunk	A	T	16: 90,293,283 (GRCm39)	T522S	probably damaging	Het
Ifit3	T	C	19: 34,565,027 (GRCm39)	F191S	probably benign	Het
Ifnab	T	A	4: 88,609,362 (GRCm39)	K35*	probably null	Het
Ifnab	G	T	4: 88,609,363 (GRCm39)	N34K	probably damaging	Het
Ighmbp2	C	A	19: 3,312,003 (GRCm39)	R917L	possibly damaging	Het
Igkv13-84	C	T	6: 68,916,916 (GRCm39)	A71V	possibly damaging	Het
Irag1	T	C	7: 110,498,901 (GRCm39)	N377D	probably damaging	Het
Lim2	T	A	7: 43,085,086 (GRCm39)	C159S	probably damaging	Het
Lrrc56	T	C	7: 140,785,564 (GRCm39)	Y147H	probably damaging	Het
Ltn1	A	G	16: 87,212,698 (GRCm39)	L621P	probably damaging	Het
Mapk8ip1	C	A	2: 92,219,589 (GRCm39)	G81C	probably damaging	Het
Mmel1	T	A	4: 154,967,673 (GRCm39)	C99*	probably null	Het
Myo9a	A	G	9: 59,777,033 (GRCm39)	I1144V	probably benign	Het
Naa15	A	G	3: 51,370,721 (GRCm39)	T612A	probably benign	Het
Naalad2	C	T	9: 18,262,443 (GRCm39)	V362I	probably benign	Het
Nbeal1	A	T	1: 60,296,643 (GRCm39)	I1178F	possibly damaging	Het
Nras	C	A	3: 102,966,269 (GRCm39)	A11E	probably damaging	Het
Or13f5	T	A	4: 52,825,779 (GRCm39)	C127*	probably null	Het
Or56a3b	G	T	7: 104,771,377 (GRCm39)	V238L	probably benign	Het
Pcdhb7	A	G	18: 37,475,199 (GRCm39)	T112A	probably damaging	Het
Peg10	C	CCCATCAGGA	6: 4,756,351 (GRCm39)		probably benign	Het
Pfkfb2	A	G	1: 130,625,624 (GRCm39)	*519Q	probably null	Het
Prodh	A	T	16: 17,890,381 (GRCm39)	H515Q	probably benign	Het
Rbfox2	T	C	15: 76,968,357 (GRCm39)	T435A	possibly damaging	Het
Rbks	T	C	5: 31,824,234 (GRCm39)	E87G	probably benign	Het
Scyl1	G	T	19: 5,820,334 (GRCm39)	Q167K	possibly damaging	Het
Serpina3i	T	A	12: 104,232,762 (GRCm39)	D222E	probably benign	Het
Slc36a4	T	A	9: 15,638,172 (GRCm39)	C199*	probably null	Het
Slx1b	C	T	7: 126,291,503 (GRCm39)	R187H	possibly damaging	Het
Stxbp5	A	G	10: 9,693,083 (GRCm39)	F348L	probably damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tfpt	A	T	7: 3,632,026 (GRCm39)	L28Q	probably damaging	Het
Trap1	G	A	16: 3,872,664 (GRCm39)	T335M	possibly damaging	Het
Zcchc2	T	A	1: 105,918,847 (GRCm39)	F110I	probably damaging	Het
Zfp345	A	T	2: 150,314,551 (GRCm39)	C329S	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
R2923: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
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'- GAAAGCCTCTGCCACGGC -3'
(R):5'- TGTCCTGAGAGATACTTACGAAGA -3'

Sequencing Primer
(F):5'- ACGGCTCACACGAGTGTCTC -3'
(R):5'- TCTATATTAGCACAAGGCCCTGG -3'

Posted On

2018-02-27