Mutagenetix > Incidental Mutation

Incidental Mutation 'R7638:Mboat2'

590090

Institutional Source

Beutler Lab

Gene Symbol

Mboat2

Ensembl Gene

ENSMUSG00000020646

Gene Name

membrane bound O-acyltransferase domain containing 2

Synonyms

Oact2, 2810049G06Rik

MMRRC Submission

045696-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7638 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24830879-24964397 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24939326 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 162 (S162P)

Ref Sequence

ENSEMBL: ENSMUSP00000106567 (fasta)

Gene Model

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

AlphaFold

Q8R3I2

Predicted Effect

probably damaging
Transcript: ENSMUST00000078902
AA Change: S29P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000077937
Gene: ENSMUSG00000020646
AA Change: S29P

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: S162P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106567
Gene: ENSMUSG00000020646
AA Change: S162P

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: S130P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000222198

Predicted Effect

probably benign
Transcript: ENSMUST00000222994

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563D23Rik	A	G	16: 92,320,917	V161A	probably damaging	Het
Abo	T	G	2: 26,843,843	T115P	probably damaging	Het
Aggf1	G	A	13: 95,356,413	R563*	probably null	Het
Amdhd1	A	T	10: 93,534,498	Y159*	probably null	Het
BC027072	T	C	17: 71,750,885	D599G	probably damaging	Het
C77080	T	C	4: 129,221,941	T1022A	probably benign	Het
Camp	T	C	9: 109,848,393	E124G		Het
Casq2	A	G	3: 102,086,700	E21G	possibly damaging	Het
Cbln1	A	T	8: 87,471,729	F116Y	probably damaging	Het
Cklf	A	T	8: 104,263,364	K143*	probably null	Het
Clca3a1	A	G	3: 144,751,962	I387T	probably damaging	Het
Cndp1	T	A	18: 84,636,049	D130V	probably benign	Het
Cyp4a12a	T	A	4: 115,327,473	M317K	possibly damaging	Het
D13Ertd608e	A	T	13: 119,842,688		probably null	Het
Dmxl2	A	T	9: 54,457,794	I138K	unknown	Het
Eapp	A	G	12: 54,673,723	S236P	probably benign	Het
Efnb3	T	C	11: 69,557,220	H132R	possibly damaging	Het
Fbn2	A	T	18: 58,105,136	N596K	probably damaging	Het
Fzd9	A	G	5: 135,250,630	W134R	probably damaging	Het
Gga2	A	G	7: 122,003,934	S180P	probably damaging	Het
Gm11639	T	A	11: 105,036,799	M4798K	probably benign	Het
Gm30302	G	T	13: 49,786,975	Q420K	probably benign	Het
Golga3	A	G	5: 110,205,828	T911A	probably benign	Het
Gstm1	C	T	3: 108,014,550		probably null	Het
Heg1	A	G	16: 33,727,497	T909A	probably damaging	Het
Herc2	T	C	7: 56,157,438	S2455P	probably benign	Het
Herc2	C	T	7: 56,220,525	R4349W	probably damaging	Het
Hivep2	T	G	10: 14,143,851	M2122R	possibly damaging	Het
Itga10	T	A	3: 96,657,391		probably null	Het
Kbtbd13	G	T	9: 65,391,323	C110*	probably null	Het
Krt78	T	C	15: 101,950,883	E293G	probably damaging	Het
Lgals3bp	C	T	11: 118,398,169	V110M	possibly damaging	Het
Lrp2	A	G	2: 69,477,008		probably null	Het
Lrrc14	A	G	15: 76,713,973	D301G	probably benign	Het
Lrrc71	C	A	3: 87,741,806	G352W	probably damaging	Het
Map3k9	A	G	12: 81,724,732	V694A	probably benign	Het
Megf11	C	A	9: 64,679,253	N422K	probably damaging	Het
Miga1	C	T	3: 152,276,687	S584N	probably benign	Het
Mindy2	A	G	9: 70,616,859	Y403H	probably damaging	Het
Mmd	C	T	11: 90,276,757	A204V	possibly damaging	Het
Mta3	A	T	17: 83,800,143	Y262F	probably benign	Het
Ncoa7	G	A	10: 30,722,798	S43F	probably benign	Het
Nphp4	T	C	4: 152,554,534	V874A	probably benign	Het
Nsd1	A	G	13: 55,312,328	T2226A	probably benign	Het
Nt5dc1	T	C	10: 34,314,796	H302R	probably benign	Het
Odc1	A	G	12: 17,550,002	Y389C	probably damaging	Het
Olfr175-ps1	G	A	16: 58,824,595	T38I	probably damaging	Het
Olfr551	A	G	7: 102,587,918	I275T	probably damaging	Het
Olfr970	T	G	9: 39,819,893	F85V	probably damaging	Het
Pcdhb10	A	C	18: 37,412,312	Q147P	probably benign	Het
Pdcl2	A	C	5: 76,317,828	C182G	probably damaging	Het
Pigv	T	C	4: 133,665,451	D136G	possibly damaging	Het
Pramel5	T	C	4: 144,271,440	E411G	possibly damaging	Het
Prkce	T	C	17: 86,168,600	V3A	probably benign	Het
Pth1r	T	C	9: 110,722,393	N546S	probably benign	Het
Qrich2	C	T	11: 116,455,322	V1559I	probably benign	Het
Rbm20	A	C	19: 53,814,333	D424A	possibly damaging	Het
Rbm26	C	T	14: 105,150,848	D393N	probably damaging	Het
Sf3b3	G	A	8: 110,820,813	R728C	probably damaging	Het
Srcap	A	G	7: 127,538,748	N1090S	probably benign	Het
Syt4	A	T	18: 31,443,822	S160T	probably benign	Het
Tfap2e	C	T	4: 126,721,934	V236M	probably damaging	Het
Thsd4	G	A	9: 60,394,472	T180M	probably damaging	Het
Tlr4	T	A	4: 66,840,206	M412K	probably damaging	Het
Tmem67	T	A	4: 12,079,883	H136L	probably benign	Het
Tnpo2	T	A	8: 85,044,415	I110N	probably benign	Het
Trav13d-3	A	G	14: 53,033,413	M111V	probably benign	Het
Tubb3	A	T	8: 123,421,161	S278C	probably benign	Het
Ugcg	T	A	4: 59,220,299	F364Y	probably benign	Het
Usp17lc	T	C	7: 103,418,499	S334P	probably damaging	Het
Vps13c	A	G	9: 67,945,509	D2357G	probably damaging	Het
Zfp157	T	C	5: 138,455,910	Y125H	probably benign	Het
Zfp747	A	T	7: 127,374,647	M117K	probably benign	Het
Znrd1	A	C	17: 36,957,830		probably null	Het
Zscan4c	A	T	7: 11,009,731	N419I	possibly damaging	Het

Other mutations in Mboat2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00719:Mboat2	APN	12	24939354	splice site	probably benign
IGL00755:Mboat2	APN	12	24957646	missense	probably benign	0.20
IGL01691:Mboat2	APN	12	24954222	missense	probably damaging	1.00
IGL02824:Mboat2	APN	12	24946586	missense	probably benign	0.03
R1052:Mboat2	UTSW	12	24946528	missense	probably damaging	1.00
R1531:Mboat2	UTSW	12	24959030	missense	probably benign
R1998:Mboat2	UTSW	12	24946673	missense	possibly damaging	0.58
R1999:Mboat2	UTSW	12	24946673	missense	possibly damaging	0.58
R2069:Mboat2	UTSW	12	24951443	missense	probably benign
R2921:Mboat2	UTSW	12	24954240	missense	probably damaging	1.00
R2923:Mboat2	UTSW	12	24954240	missense	probably damaging	1.00
R3113:Mboat2	UTSW	12	24882719	missense	probably damaging	1.00
R4300:Mboat2	UTSW	12	24959083	missense	probably benign	0.33
R5133:Mboat2	UTSW	12	24959066	missense	probably benign	0.00
R5356:Mboat2	UTSW	12	24957573	missense	probably benign	0.24
R6084:Mboat2	UTSW	12	24878285	missense	probably damaging	1.00
R6184:Mboat2	UTSW	12	24951431	missense	possibly damaging	0.54
R6194:Mboat2	UTSW	12	24946638	missense	probably benign	0.07
R6281:Mboat2	UTSW	12	24957679	missense	probably benign	0.18
R7026:Mboat2	UTSW	12	24948382	critical splice donor site	probably null
R7269:Mboat2	UTSW	12	24831709	missense	probably benign	0.02
R7936:Mboat2	UTSW	12	24955393	missense	probably damaging	1.00
R8416:Mboat2	UTSW	12	24934610	missense	probably damaging	1.00
R8883:Mboat2	UTSW	12	24959034	missense
Z1176:Mboat2	UTSW	12	24948344	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- CCTTTATAGGGCAAGGTGGG -3'
(R):5'- GTTTCACAGGAGACACGCAC -3'

Sequencing Primer
(F):5'- CACGTGATGGGTCAGCTG -3'
(R):5'- CAGGAGACACGCACGGTAC -3'

Posted On

2019-10-24