Mutagenetix > Incidental Mutation

Incidental Mutation 'R6184:Mboat2'

488153

Institutional Source

Beutler Lab

Gene Symbol

Mboat2

Ensembl Gene

ENSMUSG00000020646

Gene Name

membrane bound O-acyltransferase domain containing 2

Synonyms

Oact2, 2810049G06Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6184 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24881401-25014399 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25001430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 277 (D277G)

Ref Sequence

ENSEMBL: ENSMUSP00000152348 (fasta)

Gene Model

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

AlphaFold

Q8R3I2

Predicted Effect

probably benign
Transcript: ENSMUST00000078902
AA Change: D176G

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000077937
Gene: ENSMUSG00000020646
AA Change: D176G

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: D309G

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000106567
Gene: ENSMUSG00000020646
AA Change: D309G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000221952
AA Change: D277G

PolyPhen 2 Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000222994

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004P03Rik	A	G	12: 17,057,179 (GRCm39)	F106S	probably benign	Het
Adgrv1	A	T	13: 81,581,957 (GRCm39)	F4696I	probably benign	Het
Ank2	T	C	3: 126,756,047 (GRCm39)	I1073V	probably damaging	Het
Card11	A	T	5: 140,884,033 (GRCm39)	D415E	probably damaging	Het
Clec16a	G	A	16: 10,390,792 (GRCm39)		probably null	Het
Coro2a	T	C	4: 46,540,504 (GRCm39)	T472A	probably benign	Het
D130043K22Rik	T	A	13: 25,069,574 (GRCm39)	F878I	probably damaging	Het
D5Ertd579e	G	T	5: 36,787,127 (GRCm39)	D80E	probably damaging	Het
Ddrgk1	A	T	2: 130,506,481 (GRCm39)	V2E	possibly damaging	Het
Disp1	T	C	1: 182,867,896 (GRCm39)	H1508R	probably benign	Het
Dmtf1	T	C	5: 9,176,656 (GRCm39)	N344S	probably benign	Het
Eml5	A	G	12: 98,829,388 (GRCm39)	V503A	possibly damaging	Het
Fat1	A	G	8: 45,406,429 (GRCm39)	H1060R	probably benign	Het
Fbxw8	C	T	5: 118,251,814 (GRCm39)	R233Q	probably damaging	Het
Fer1l4	T	C	2: 155,890,211 (GRCm39)	K238R	probably damaging	Het
Flg	T	A	3: 93,187,357 (GRCm39)	S270T	probably benign	Het
Gm10801	TC	TCGCC	2: 98,494,151 (GRCm39)		probably benign	Het
Gm3604	A	T	13: 62,519,659 (GRCm39)	V32D	probably damaging	Het
Gnl2	T	G	4: 124,948,022 (GRCm39)		probably null	Het
Gpr162	A	G	6: 124,838,204 (GRCm39)	S149P	probably damaging	Het
Il2ra	T	A	2: 11,652,790 (GRCm39)		probably benign	Het
Kics2	T	C	10: 121,586,810 (GRCm39)	L375P	probably damaging	Het
Kmt5b	T	A	19: 3,854,499 (GRCm39)	M254K	probably damaging	Het
Lrriq3	T	C	3: 154,835,039 (GRCm39)	I258T	probably benign	Het
Mbnl1	T	C	3: 60,523,165 (GRCm39)	L328S	probably damaging	Het
Mug2	A	G	6: 122,014,005 (GRCm39)	I364V	probably benign	Het
Myh7	G	A	14: 55,226,315 (GRCm39)	R442C	probably damaging	Het
Nin	A	G	12: 70,090,511 (GRCm39)	L968P	probably damaging	Het
Or1l8	T	C	2: 36,817,404 (GRCm39)	T241A	probably damaging	Het
Or5w14	A	T	2: 87,542,188 (GRCm39)	Y21N	probably benign	Het
Or8g53	T	G	9: 39,683,916 (GRCm39)	Y60S	probably damaging	Het
Per1	C	T	11: 68,993,730 (GRCm39)	P403S	probably damaging	Het
Ppip5k2	T	C	1: 97,661,730 (GRCm39)	I723V	possibly damaging	Het
Ptprg	A	G	14: 12,153,943 (GRCm38)	T555A	probably benign	Het
Rgsl1	C	T	1: 153,703,194 (GRCm39)	M187I	probably benign	Het
Sec31a	A	G	5: 100,517,453 (GRCm39)		probably null	Het
Sptbn5	C	T	2: 119,889,898 (GRCm39)		probably benign	Het
Sry	C	G	Y: 2,662,975 (GRCm39)	Q228H	unknown	Het
Stx1b	G	A	7: 127,407,077 (GRCm39)	T206I	possibly damaging	Het
Tsc22d4	T	A	5: 137,757,351 (GRCm39)	M35K	probably damaging	Het
Zc2hc1c	A	G	12: 85,343,218 (GRCm39)	K452E	probably damaging	Het
Zfp386	A	G	12: 116,024,133 (GRCm39)	N582S	possibly damaging	Het
Zfp457	A	G	13: 67,440,976 (GRCm39)	V437A	possibly damaging	Het
Zfp599	T	C	9: 22,160,947 (GRCm39)	Y406C	probably benign	Het
Zfyve26	G	A	12: 79,315,501 (GRCm39)	S1325F	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
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'- TATACACCTCCTGGGAGAGC -3'
(R):5'- AAAGTTTGCAGCCTACTGTGG -3'

Sequencing Primer
(F):5'- ACAAGGTCCAGGTTCAGTTC -3'
(R):5'- TGCAGCCTACTGTGGTCAAC -3'

Posted On

2017-10-10