Mutagenetix > Incidental Mutation

Incidental Mutation 'R6084:Mboat2'

482413

Institutional Source

Beutler Lab

Gene Symbol

Mboat2

Ensembl Gene

ENSMUSG00000020646

Gene Name

membrane bound O-acyltransferase domain containing 2

Synonyms

Oact2, 2810049G06Rik

MMRRC Submission

044243-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6084 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24830879-24964397 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24878285 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 52 (H52L)

Ref Sequence

ENSEMBL: ENSMUSP00000152150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078902] [ENSMUST00000110942] [ENSMUST00000221952] [ENSMUST00000222198] [ENSMUST00000222994]

AlphaFold

Q8R3I2

Predicted Effect

probably benign
Transcript: ENSMUST00000078902

SMART Domains

Protein: ENSMUSP00000077937
Gene: ENSMUSG00000020646

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: H57L

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

SMART Domains

Protein: ENSMUSP00000106567
Gene: ENSMUSG00000020646
AA Change: H57L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220497

Predicted Effect

probably damaging
Transcript: ENSMUST00000221952
AA Change: H57L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000222198
AA Change: H52L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000222994

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	T	C	5: 62,670,954 (GRCm38)	D958G	possibly damaging	Het
Bag4	T	C	8: 25,771,231 (GRCm38)	T161A	probably benign	Het
Bora	A	T	14: 99,062,294 (GRCm38)	Q234L	possibly damaging	Het
Cacna2d2	T	C	9: 107,497,521 (GRCm38)		probably null	Het
Cass4	G	T	2: 172,426,912 (GRCm38)	A307S	probably benign	Het
Cbln4	A	T	2: 172,042,096 (GRCm38)	V68E	probably damaging	Het
Cc2d2a	T	A	5: 43,668,673 (GRCm38)	N2K	probably benign	Het
Ccnf	T	A	17: 24,231,837 (GRCm38)	D389V	probably damaging	Het
Cdipt	T	C	7: 126,979,601 (GRCm38)	S161P	probably benign	Het
Ceacam19	T	C	7: 19,882,887 (GRCm38)	I161V	probably benign	Het
Cfap65	A	G	1: 74,920,405 (GRCm38)	I862T	probably damaging	Het
Cfi	T	A	3: 129,858,370 (GRCm38)	L230Q	probably benign	Het
Chac2	G	A	11: 30,986,159 (GRCm38)	R30W	probably damaging	Het
Cmc2	G	A	8: 116,889,827 (GRCm38)		probably benign	Het
Col1a2	A	T	6: 4,505,840 (GRCm38)	M1L	probably benign	Het
Cox8a	C	A	19: 7,217,418 (GRCm38)	R32L	possibly damaging	Het
Cubn	T	A	2: 13,430,897 (GRCm38)	N1083Y	probably damaging	Het
D430042O09Rik	G	A	7: 125,814,865 (GRCm38)	G394R	probably benign	Het
D630003M21Rik	T	C	2: 158,217,584 (GRCm38)	D132G	probably damaging	Het
Dedd2	G	A	7: 25,211,290 (GRCm38)	P154S	probably benign	Het
Dnaaf3	T	C	7: 4,524,213 (GRCm38)	D358G	probably benign	Het
Dysf	T	A	6: 84,019,604 (GRCm38)	F29L	probably damaging	Het
Dysf	T	C	6: 84,112,119 (GRCm38)	L888P	probably damaging	Het
Ebf4	A	G	2: 130,309,723 (GRCm38)	D277G	probably damaging	Het
Ecm2	T	A	13: 49,515,094 (GRCm38)	L91*	probably null	Het
Foxs1	T	C	2: 152,932,842 (GRCm38)	D97G	possibly damaging	Het
Frs2	A	C	10: 117,076,809 (GRCm38)		probably null	Het
Gm6768	A	G	12: 119,261,651 (GRCm38)		noncoding transcript	Het
Grp	A	T	18: 65,879,937 (GRCm38)	D58V	probably damaging	Het
Hif1a	T	G	12: 73,941,842 (GRCm38)	F537C	probably damaging	Het
Icam4	G	A	9: 21,029,539 (GRCm38)	S29N	probably benign	Het
Itfg1	T	C	8: 85,726,170 (GRCm38)	E523G	probably benign	Het
Jph2	T	C	2: 163,375,680 (GRCm38)	K359E	probably damaging	Het
Kcnq2	A	T	2: 181,087,656 (GRCm38)	V490E	possibly damaging	Het
Klhl18	C	T	9: 110,428,727 (GRCm38)	M548I	possibly damaging	Het
Lpin3	A	G	2: 160,895,801 (GRCm38)	Y197C	probably benign	Het
Lrp1	T	C	10: 127,560,553 (GRCm38)	N2381D	probably benign	Het
Man1a	A	T	10: 53,919,211 (GRCm38)	W649R	probably damaging	Het
Map4	T	C	9: 110,064,292 (GRCm38)	L542P	probably damaging	Het
Mok	C	G	12: 110,814,946 (GRCm38)	S91T	probably benign	Het
Mtmr11	G	T	3: 96,168,084 (GRCm38)	R360L	probably damaging	Het
Myt1l	G	A	12: 29,832,332 (GRCm38)	G509R	unknown	Het
Olfr1288	A	T	2: 111,479,389 (GRCm38)	N202Y	probably damaging	Het
Olfr341	A	G	2: 36,479,512 (GRCm38)	V206A	probably benign	Het
Olfr544	T	C	7: 102,484,389 (GRCm38)	T244A	probably damaging	Het
Olfr67	C	T	7: 103,787,955 (GRCm38)	M107I	probably benign	Het
Olfr836	A	G	9: 19,121,327 (GRCm38)	D121G	probably damaging	Het
Olfr867	A	T	9: 20,054,883 (GRCm38)	H75Q	possibly damaging	Het
Padi3	G	T	4: 140,795,843 (GRCm38)	T292N	probably damaging	Het
Pard6g	A	C	18: 80,117,205 (GRCm38)	T178P	possibly damaging	Het
Pkd1l2	A	T	8: 117,013,987 (GRCm38)	Y2124N	probably damaging	Het
Plxdc1	G	A	11: 97,928,463 (GRCm38)	T398I	probably damaging	Het
Prickle2	A	T	6: 92,416,848 (GRCm38)	C225*	probably null	Het
Prmt2	G	A	10: 76,210,444 (GRCm38)	T317I	probably benign	Het
Psg22	T	G	7: 18,719,780 (GRCm38)	N172K	probably benign	Het
Ptpn9	C	T	9: 57,033,163 (GRCm38)	R196*	probably null	Het
Rap1b	C	T	10: 117,824,611 (GRCm38)	V14I	probably damaging	Het
Rapgef4	T	A	2: 72,196,278 (GRCm38)		probably null	Het
Rlf	A	T	4: 121,149,215 (GRCm38)	M856K	possibly damaging	Het
Rnf149	A	G	1: 39,577,174 (GRCm38)	L34P	probably benign	Het
Rock1	T	C	18: 10,101,007 (GRCm38)	E636G	probably benign	Het
Rsad2	A	T	12: 26,454,123 (GRCm38)	Y136N	probably damaging	Het
Ryr3	T	C	2: 112,908,493 (GRCm38)	H563R	probably damaging	Het
Slc18b1	A	G	10: 23,804,212 (GRCm38)	M102V	probably benign	Het
Slc34a2	T	A	5: 53,067,647 (GRCm38)	C377S	possibly damaging	Het
Slco1c1	T	C	6: 141,546,770 (GRCm38)	V293A	probably benign	Het
Spidr	A	T	16: 16,140,024 (GRCm38)	S80T	possibly damaging	Het
Syne1	C	T	10: 5,348,994 (GRCm38)	E1031K	probably damaging	Het
Synj2	G	A	17: 6,017,614 (GRCm38)	V121I	probably damaging	Het
Synj2	A	T	17: 6,038,098 (GRCm38)	T1430S	probably damaging	Het
Tecpr2	G	T	12: 110,929,109 (GRCm38)	K343N	probably damaging	Het
Tmem132d	T	A	5: 127,784,100 (GRCm38)	I986F	probably benign	Het
Trib1	G	A	15: 59,654,475 (GRCm38)	R298H	probably damaging	Het
Ttll10	T	A	4: 156,045,357 (GRCm38)	D283V	probably benign	Het
Ttn	T	A	2: 76,814,779 (GRCm38)	K673*	probably null	Het
Ubqlnl	T	A	7: 104,148,698 (GRCm38)	M531L	probably benign	Het
Vmn2r120	A	T	17: 57,525,721 (GRCm38)	W153R	probably benign	Het
Vmn2r2	A	C	3: 64,117,046 (GRCm38)	S705A	probably benign	Het
Vmn2r32	T	A	7: 7,464,210 (GRCm38)	D773V	probably benign	Het
Vmn2r54	T	A	7: 12,632,278 (GRCm38)	Q243L	probably damaging	Het
Wdr24	C	A	17: 25,824,530 (GRCm38)	R109S	probably damaging	Het
Zfp113	T	C	5: 138,145,668 (GRCm38)	M107V	probably benign	Het
Zfp426	G	T	9: 20,470,627 (GRCm38)	Q341K	possibly damaging	Het
Zfp616	A	T	11: 74,083,846 (GRCm38)	K314*	probably null	Het

Other mutations in Mboat2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00719:Mboat2	APN	12	24,939,354 (GRCm38)	splice site	probably benign
IGL00755:Mboat2	APN	12	24,957,646 (GRCm38)	missense	probably benign	0.20
IGL01691:Mboat2	APN	12	24,954,222 (GRCm38)	missense	probably damaging	1.00
IGL02824:Mboat2	APN	12	24,946,586 (GRCm38)	missense	probably benign	0.03
R1052:Mboat2	UTSW	12	24,946,528 (GRCm38)	missense	probably damaging	1.00
R1531:Mboat2	UTSW	12	24,959,030 (GRCm38)	missense	probably benign
R1998:Mboat2	UTSW	12	24,946,673 (GRCm38)	missense	possibly damaging	0.58
R1999:Mboat2	UTSW	12	24,946,673 (GRCm38)	missense	possibly damaging	0.58
R2069:Mboat2	UTSW	12	24,951,443 (GRCm38)	missense	probably benign
R2921:Mboat2	UTSW	12	24,954,240 (GRCm38)	missense	probably damaging	1.00
R2923:Mboat2	UTSW	12	24,954,240 (GRCm38)	missense	probably damaging	1.00
R3113:Mboat2	UTSW	12	24,882,719 (GRCm38)	missense	probably damaging	1.00
R4300:Mboat2	UTSW	12	24,959,083 (GRCm38)	missense	probably benign	0.33
R5133:Mboat2	UTSW	12	24,959,066 (GRCm38)	missense	probably benign	0.00
R5356:Mboat2	UTSW	12	24,957,573 (GRCm38)	missense	probably benign	0.24
R6184:Mboat2	UTSW	12	24,951,431 (GRCm38)	missense	possibly damaging	0.54
R6194:Mboat2	UTSW	12	24,946,638 (GRCm38)	missense	probably benign	0.07
R6281:Mboat2	UTSW	12	24,957,679 (GRCm38)	missense	probably benign	0.18
R7026:Mboat2	UTSW	12	24,948,382 (GRCm38)	critical splice donor site	probably null
R7269:Mboat2	UTSW	12	24,831,709 (GRCm38)	missense	probably benign	0.02
R7638:Mboat2	UTSW	12	24,939,326 (GRCm38)	missense	probably damaging	1.00
R7936:Mboat2	UTSW	12	24,955,393 (GRCm38)	missense	probably damaging	1.00
R8416:Mboat2	UTSW	12	24,934,610 (GRCm38)	missense	probably damaging	1.00
R8883:Mboat2	UTSW	12	24,959,034 (GRCm38)	missense
Z1176:Mboat2	UTSW	12	24,948,344 (GRCm38)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- AGTGGATACTGACCCATCCC -3'
(R):5'- AGCCTGGAAAGAAAACTTTGTCAG -3'

Posted On

2017-07-14