Mutagenetix > Incidental Mutations

Incidental Mutation 'R2145:H2-Ob'

233782

Institutional Source

Beutler Lab

Gene Symbol

H2-Ob

Ensembl Gene

ENSMUSG00000041538

Gene Name

histocompatibility 2, O region beta locus

Synonyms

Ob, H-2Ob, H2-Ab, A-beta2, A-beta-2, H-2I, H2-IAb2, H2-Ab2

MMRRC Submission

040148-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R2145 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34238903-34245907 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34242580 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 98 (M98L)

Ref Sequence

ENSEMBL: ENSMUSP00000133906 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095342] [ENSMUST00000167280] [ENSMUST00000173764]

Predicted Effect

probably benign
Transcript: ENSMUST00000095342
AA Change: M169L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000092985
Gene: ENSMUSG00000041538
AA Change: M169L

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
MHC_II_beta	39	113	8.17e-34	SMART
IGc1	138	209	2.24e-24	SMART
transmembrane domain	225	247	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167280
AA Change: M143L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000129657
Gene: ENSMUSG00000041538
AA Change: M143L

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
MHC_II_beta	39	113	8.17e-34	SMART
IGc1	120	183	4.55e-16	SMART
transmembrane domain	199	221	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173681

Predicted Effect

probably benign
Transcript: ENSMUST00000173764
AA Change: M98L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000133906
Gene: ENSMUSG00000041538
AA Change: M98L

Domain	Start	End	E-Value	Type
Pfam:MHC_II_beta	1	42	8e-12	PFAM
IGc1	67	138	2.24e-24	SMART
transmembrane domain	154	176	N/A	INTRINSIC

Meta Mutation Damage Score

0.1384

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

97% (101/104)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HLA-DOB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DOA) and a beta chain (DOB), both anchored in the membrane. It is located in intracellular vesicles. DO suppresses peptide loading of MHC class II molecules by inhibiting HLA-DM. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032A03Rik	T	C	9: 50,764,874	Y32C	probably damaging	Het
Abca15	A	G	7: 120,354,478	N535S	probably benign	Het
Abcc6	A	T	7: 45,998,741	L717Q	probably benign	Het
Abraxas2	C	A	7: 132,883,061	Q278K	probably benign	Het
Acap2	A	T	16: 31,105,524	D637E	probably benign	Het
AI661453	A	G	17: 47,466,098		probably benign	Het
Aoah	A	T	13: 20,840,096	E74V	probably damaging	Het
Appl1	A	G	14: 26,949,619	L292S	possibly damaging	Het
Astl	T	A	2: 127,347,189	V166E	probably damaging	Het
Atp5s	A	G	12: 69,741,054	Q88R	probably damaging	Het
Bbs1	T	G	19: 4,903,707	K143Q	possibly damaging	Het
Bbx	T	C	16: 50,274,544		probably benign	Het
Birc6	A	T	17: 74,660,413	Q4103L	possibly damaging	Het
C1qtnf2	T	G	11: 43,490,984	F178V	probably damaging	Het
Camta2	A	G	11: 70,671,575	F999L	probably benign	Het
Clcn7	A	G	17: 25,144,451	I34V	probably benign	Het
Cntn5	G	T	9: 9,748,415	P487Q	probably damaging	Het
Ctu2	T	A	8: 122,479,152	I213K	probably benign	Het
Des	C	A	1: 75,363,464		probably benign	Het
Dgcr8	A	T	16: 18,280,230	D432E	probably benign	Het
Dlgap5	G	A	14: 47,395,923	R549*	probably null	Het
Dmxl2	T	C	9: 54,415,910	T1397A	probably damaging	Het
Dnmt1	T	A	9: 20,937,155		probably benign	Het
Doxl2	A	T	6: 48,976,695	D518V	probably damaging	Het
Dstyk	T	A	1: 132,463,375	M838K	probably damaging	Het
Dtwd1	C	A	2: 126,159,984	T208N	probably damaging	Het
Dvl1	G	A	4: 155,847,816	V28I	possibly damaging	Het
Dync1i2	T	A	2: 71,214,563		probably benign	Het
Fer1l6	T	A	15: 58,627,534	M1251K	probably benign	Het
Fmod	T	C	1: 134,040,518	Y99H	probably benign	Het
Fn1	A	T	1: 71,606,004	V1552D	probably damaging	Het
Fnip2	A	T	3: 79,500,432	S281T	probably damaging	Het
Glb1	A	G	9: 114,464,165	H536R	probably benign	Het
Glis2	T	A	16: 4,613,642	S344R	possibly damaging	Het
Gm1966	T	A	7: 106,603,008	H343L	possibly damaging	Het
Gm4847	A	T	1: 166,634,903	S339R	probably benign	Het
Gpr155	A	G	2: 73,356,658	S44P	probably benign	Het
Gprin1	G	A	13: 54,738,632	P610S	probably damaging	Het
Hist1h3e	T	C	13: 23,562,356	T4A	probably benign	Het
Hmcn2	T	C	2: 31,333,931		probably benign	Het
Ikbke	C	A	1: 131,273,474	V176L	probably damaging	Het
Il13	T	C	11: 53,632,524	T85A	possibly damaging	Het
Inpp5k	A	T	11: 75,647,191		probably null	Het
Irgm2	T	C	11: 58,220,529	S361P	possibly damaging	Het
Itga11	C	T	9: 62,732,204		probably benign	Het
Kalrn	G	T	16: 34,009,262		probably benign	Het
Kcng1	C	A	2: 168,269,032	G71C	probably damaging	Het
Kcnq5	T	A	1: 21,505,349	D291V	probably damaging	Het
Klhl7	A	T	5: 24,100,863	M37L	probably benign	Het
Letm1	A	AG	5: 33,769,515		probably null	Het
Lhx6	C	T	2: 36,087,466	V325I	probably benign	Het
Lipc	A	G	9: 70,934,535	I9T	possibly damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261		probably null	Het
Mast1	C	A	8: 84,921,478	G458V	probably damaging	Het
Mga	T	C	2: 119,964,157	V2565A	possibly damaging	Het
Mkl2	T	C	16: 13,412,586	I1045T	probably damaging	Het
Mpzl2	C	G	9: 45,044,173	D127E	probably benign	Het
Myh3	T	A	11: 67,091,056	C793S	probably benign	Het
Nomo1	T	C	7: 46,066,504	L765P	probably damaging	Het
Nup210	A	G	6: 91,028,876	I1335T	possibly damaging	Het
Olfr549	T	C	7: 102,555,060		probably null	Het
Oxr1	T	A	15: 41,819,944	S254R	probably damaging	Het
Pan3	A	G	5: 147,530,098	I592V	possibly damaging	Het
Pask	C	T	1: 93,321,297	A794T	probably benign	Het
Pex2	T	C	3: 5,561,590	E53G	probably damaging	Het
Pfkfb2	T	C	1: 130,698,723	T438A	probably benign	Het
Phactr4	T	C	4: 132,370,784	E391G	probably damaging	Het
Pira2	A	T	7: 3,844,345	L115Q	probably damaging	Het
Pkhd1l1	A	T	15: 44,512,877		probably null	Het
Pnlip	A	G	19: 58,676,444	S235G	probably benign	Het
Prkd1	A	G	12: 50,489,911	V130A	possibly damaging	Het
Ptpn13	A	G	5: 103,556,133	T1344A	probably benign	Het
Ptprc	T	C	1: 138,073,681	Y780C	probably damaging	Het
Pxn	T	A	5: 115,552,756		probably benign	Het
Rap1gap2	G	A	11: 74,425,976	T245M	probably damaging	Het
Rc3h1	G	T	1: 160,930,257	K48N	probably damaging	Het
Rfwd3	T	C	8: 111,282,613	I444V	probably benign	Het
Rictor	C	T	15: 6,765,107	R293C	probably damaging	Het
Rif1	T	A	2: 52,111,400	I1622N	possibly damaging	Het
Rnf213	T	C	11: 119,415,193	V609A	probably benign	Het
Scgb1b2	G	T	7: 31,291,763		probably benign	Het
Serac1	A	T	17: 6,050,785	I448N	probably damaging	Het
Sh3kbp1	C	A	X: 159,824,496	T200K	probably benign	Het
Sned1	T	A	1: 93,271,684	F495L	probably damaging	Het
Socs7	T	C	11: 97,373,124	F281L	probably benign	Het
Spta1	C	T	1: 174,212,614	L1214F	probably benign	Het
Ssu72	A	G	4: 155,705,443	E21G	probably damaging	Het
Syngr4	A	G	7: 45,887,040	V186A	probably benign	Het
Tarsl2	G	A	7: 65,655,791	M254I	possibly damaging	Het
Tmem130	C	A	5: 144,743,785	V270L	probably benign	Het
Trim66	A	T	7: 109,475,113	I647N	probably damaging	Het
Tspyl2	A	T	X: 152,338,894	D572E	probably benign	Het
Unc45b	G	A	11: 82,917,754	R222H	probably benign	Het
Uxs1	T	C	1: 43,827,623	Y29C	probably damaging	Het
Virma	T	A	4: 11,548,726		probably benign	Het
Vmn1r202	C	T	13: 22,501,783	G155S	possibly damaging	Het
Vmn2r24	T	A	6: 123,779,013	F15I	probably benign	Het
Wdr64	A	G	1: 175,767,095	T471A	probably benign	Het
Zfa-ps	T	A	10: 52,543,277		noncoding transcript	Het
Zfp260	A	G	7: 30,105,340	K222E	probably damaging	Het
Zfp300	A	G	X: 21,081,951	S525P	possibly damaging	Het
Zfp821	A	G	8: 109,724,347	D324G	probably damaging	Het
Zfp934	T	C	13: 62,517,834	D331G	probably damaging	Het
Zscan29	T	C	2: 121,170,106	R7G	probably damaging	Het

Other mutations in H2-Ob

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01871:H2-Ob	APN	17	34242545	missense	probably damaging	1.00
IGL03247:H2-Ob	APN	17	34243492	missense	probably benign
Deciduous	UTSW	17	34243886	critical splice acceptor site	probably null
K3955:H2-Ob	UTSW	17	34241184	missense	probably damaging	1.00
R0466:H2-Ob	UTSW	17	34242659	missense	probably damaging	0.99
R0791:H2-Ob	UTSW	17	34242614	missense	probably damaging	1.00
R0792:H2-Ob	UTSW	17	34242614	missense	probably damaging	1.00
R0812:H2-Ob	UTSW	17	34244126	utr 3 prime	probably benign
R4677:H2-Ob	UTSW	17	34242644	missense	probably benign	0.01
R4741:H2-Ob	UTSW	17	34242571	missense	possibly damaging	0.73
R5011:H2-Ob	UTSW	17	34241279	critical splice donor site	probably null
R5084:H2-Ob	UTSW	17	34241128	missense	probably damaging	1.00
R5135:H2-Ob	UTSW	17	34243516	missense	probably benign	0.20
R5497:H2-Ob	UTSW	17	34241170	missense	probably benign	0.42
R6034:H2-Ob	UTSW	17	34241218	missense	probably damaging	1.00
R6034:H2-Ob	UTSW	17	34241218	missense	probably damaging	1.00
R6272:H2-Ob	UTSW	17	34242644	missense	probably benign	0.01
R6433:H2-Ob	UTSW	17	34243886	critical splice acceptor site	probably null
R6794:H2-Ob	UTSW	17	34241188	missense	possibly damaging	0.96
R7220:H2-Ob	UTSW	17	34241260	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGATGGATCACGGTGGTCAC -3'
(R):5'- CTACAGGTCAAGGTCCAGAAG -3'

Sequencing Primer
(F):5'- TGGTCACAGCCCCTCTAGATG -3'
(R):5'- CTACAGGTCAAGGTCCAGAAGTACAG -3'

Posted On

2014-10-01