Mutagenetix > Incidental Mutation

Incidental Mutation 'R9133:H2-Oa'

693808

Institutional Source

Beutler Lab

Gene Symbol

H2-Oa

Ensembl Gene

ENSMUSG00000024334

Gene Name

histocompatibility 2, O region alpha locus

Synonyms

H-2Oa

MMRRC Submission

068930-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

R9133 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34311314-34314208 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34313505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 185 (D185E)

Ref Sequence

ENSEMBL: ENSMUSP00000025192 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025192]

AlphaFold

Q9QWV1

Predicted Effect

probably damaging
Transcript: ENSMUST00000025192
AA Change: D185E

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

SMART Domains

Protein: ENSMUSP00000025192
Gene: ENSMUSG00000024334
AA Change: D185E

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
MHC_II_alpha	30	110	1.11e-35	SMART
IGc1	128	199	5.02e-27	SMART
Pfam:C1-set_C	202	250	8e-22	PFAM

Coding Region Coverage

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

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HLA-DOA belongs to the HLA class II alpha chain paralogues. HLA-DOA forms a heterodimer with HLA-DOB. The heterodimer, HLA-DO, is found in lysosomes in B cells and regulates HLA-DM-mediated peptide loading on MHC class II molecules. In comparison with classical HLA class II molecules, this gene exhibits very little sequence variation, especially at the protein level. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene results in abnormal antigen presentation via MHC class II. Mice homozygous for a knock-out allele show enhanced selection of CD4+ single positive thymocytes. Mice homozygous for a different knock-out allele show increased serum IgG1 levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat3	T	A	17: 13,159,176 (GRCm39)	R4S	probably benign	Het
Adamdec1	A	T	14: 68,814,547 (GRCm39)	C143*	probably null	Het
Adck5	A	G	15: 76,460,612 (GRCm39)		probably benign	Het
Aebp2	A	G	6: 140,579,441 (GRCm39)	D226G	probably damaging	Het
Ascc3	A	G	10: 50,630,175 (GRCm39)	I1755V	possibly damaging	Het
Aspm	C	T	1: 139,419,266 (GRCm39)	T2977M	probably damaging	Het
Cacna1a	A	G	8: 85,276,152 (GRCm39)	S582G	probably damaging	Het
Card14	T	C	11: 119,231,835 (GRCm39)	F801S	probably damaging	Het
Casp16	T	A	17: 23,771,003 (GRCm39)	D134V	probably damaging	Het
Cmya5	A	G	13: 93,234,108 (GRCm39)	S327P	possibly damaging	Het
Cutc	A	T	19: 43,755,727 (GRCm39)	D229V	possibly damaging	Het
Cyp21a1	C	A	17: 35,023,419 (GRCm39)		probably benign	Het
Dnah10	A	G	5: 124,859,423 (GRCm39)	K2130R	probably damaging	Het
Dsc1	C	T	18: 20,234,904 (GRCm39)	S250N	probably benign	Het
Edc4	T	C	8: 106,611,778 (GRCm39)		probably null	Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Ehmt1	A	T	2: 24,729,635 (GRCm39)	I642K	possibly damaging	Het
Gjd2	T	C	2: 113,842,039 (GRCm39)	Q146R	probably benign	Het
Gm26661	A	G	14: 7,791,936 (GRCm38)	H117R	unknown	Het
Hjurp	A	T	1: 88,202,772 (GRCm39)	Y71N	possibly damaging	Het
Hyal6	A	G	6: 24,734,585 (GRCm39)	R173G	possibly damaging	Het
Ica1	A	T	6: 8,659,921 (GRCm39)	V125D	probably benign	Het
Ift172	T	C	5: 31,442,867 (GRCm39)	T140A	probably benign	Het
Ighv9-4	T	A	12: 114,263,883 (GRCm39)	I17F	probably benign	Het
Igkv4-92	G	T	6: 68,732,248 (GRCm39)	T42N	probably damaging	Het
Kctd16	C	A	18: 40,392,069 (GRCm39)	P219Q	probably damaging	Het
Kdm5b	A	T	1: 134,530,323 (GRCm39)	I445F	probably benign	Het
Ksr2	A	G	5: 117,841,319 (GRCm39)	T598A	probably benign	Het
Lrrn1	C	T	6: 107,544,568 (GRCm39)	T122I	probably damaging	Het
Mars2	A	G	1: 55,276,721 (GRCm39)	D108G	possibly damaging	Het
Ms4a14	A	G	19: 11,281,038 (GRCm39)	W507R		Het
Ncoa3	A	G	2: 165,910,381 (GRCm39)	T1266A	possibly damaging	Het
Neb	T	C	2: 52,083,256 (GRCm39)	K5650E	possibly damaging	Het
Nlrp4f	T	A	13: 65,332,883 (GRCm39)	K92*	probably null	Het
Nme4	G	T	17: 26,314,389 (GRCm39)	A13E	probably benign	Het
Nova1	G	T	12: 46,865,524 (GRCm39)	A4E	unknown	Het
Nphs1	G	T	7: 30,160,092 (GRCm39)	E124*	probably null	Het
Or10d4	T	A	9: 39,580,974 (GRCm39)	I207N	possibly damaging	Het
Or10d4b	T	A	9: 39,534,809 (GRCm39)	L128*	probably null	Het
Or5d14	T	C	2: 87,880,782 (GRCm39)	Y62C	probably damaging	Het
Pde8a	C	T	7: 80,982,619 (GRCm39)	T746I	probably damaging	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,712,167 (GRCm39)		probably benign	Het
Ranbp2	T	C	10: 58,313,050 (GRCm39)	S1257P	probably damaging	Het
Ranbp3	T	C	17: 57,003,791 (GRCm39)		probably null	Het
Rasgrf1	A	G	9: 89,793,600 (GRCm39)	T126A	probably benign	Het
Rexo5	T	G	7: 119,444,667 (GRCm39)	L714R	probably damaging	Het
Rhobtb3	A	G	13: 76,020,512 (GRCm39)	Y597H	probably damaging	Het
Riox1	C	G	12: 83,998,221 (GRCm39)	Y252*	probably null	Het
Sh2d3c	T	C	2: 32,634,778 (GRCm39)	Y186H	possibly damaging	Het
Slc16a7	T	A	10: 125,066,536 (GRCm39)	T368S	probably benign	Het
Slc25a26	G	A	6: 94,511,143 (GRCm39)	V107I		Het
Slc4a5	A	T	6: 83,203,217 (GRCm39)	Y39F	possibly damaging	Het
Smarcad1	A	G	6: 65,049,035 (GRCm39)	K254E	probably damaging	Het
Sspo	G	T	6: 48,434,747 (GRCm39)	V1080L	possibly damaging	Het
Thsd7b	A	T	1: 129,843,382 (GRCm39)	T865S	probably benign	Het
Top1	C	T	2: 160,545,591 (GRCm39)	Q320*	probably null	Het
Trank1	T	A	9: 111,220,770 (GRCm39)	N2502K	possibly damaging	Het
Urad	T	C	5: 147,252,251 (GRCm39)	H67R	probably damaging	Het
Vamp5	A	C	6: 72,357,362 (GRCm39)		probably null	Het
Vmn1r62	A	G	7: 5,679,062 (GRCm39)	I248V	probably benign	Het
Wwc2	G	T	8: 48,305,007 (GRCm39)	Q873K	unknown	Het
Zcchc2	C	A	1: 105,958,535 (GRCm39)	S1002Y	probably damaging	Het
Zdhhc14	G	A	17: 5,803,283 (GRCm39)	R462H	probably benign	Het
Zfp788	A	G	7: 41,299,484 (GRCm39)	N707D		Het
Zfp964	A	G	8: 70,115,783 (GRCm39)	T128A	probably benign	Het
Zkscan16	T	C	4: 58,957,722 (GRCm39)	L668S	possibly damaging	Het

Other mutations in H2-Oa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00980:H2-Oa	APN	17	34,313,537 (GRCm39)	missense	probably damaging	1.00
IGL01929:H2-Oa	APN	17	34,313,056 (GRCm39)	critical splice donor site	probably null
IGL03022:H2-Oa	APN	17	34,313,023 (GRCm39)	missense	probably damaging	1.00
IGL03352:H2-Oa	APN	17	34,313,377 (GRCm39)	missense	probably damaging	1.00
R1582:H2-Oa	UTSW	17	34,313,695 (GRCm39)	missense	probably damaging	0.99
R1930:H2-Oa	UTSW	17	34,312,873 (GRCm39)	missense	possibly damaging	0.81
R5081:H2-Oa	UTSW	17	34,313,344 (GRCm39)	missense	probably damaging	1.00
R5097:H2-Oa	UTSW	17	34,312,809 (GRCm39)	missense	probably damaging	0.98
R6191:H2-Oa	UTSW	17	34,312,842 (GRCm39)	missense	probably damaging	1.00
R6228:H2-Oa	UTSW	17	34,312,851 (GRCm39)	missense	probably damaging	0.98
R6275:H2-Oa	UTSW	17	34,313,540 (GRCm39)	missense	probably benign	0.32
R9355:H2-Oa	UTSW	17	34,313,723 (GRCm39)	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- TTCTCCCCAAGACTCGTGTG -3'
(R):5'- GATCAGGGTCTCTATGGTGTCC -3'

Sequencing Primer
(F):5'- CTCGTGTGGAGCTCGGAAAG -3'
(R):5'- CGGTGGTGGGGTAAGCAC -3'

Posted On

2022-01-20