Mutagenetix > Incidental Mutation

Incidental Mutation 'R3981:H2-M3'

351191

Institutional Source

Beutler Lab

Gene Symbol

H2-M3

Ensembl Gene

ENSMUSG00000016206

Gene Name

histocompatibility 2, M region locus 3

Synonyms

H-2M3, Hmt, R4B2

MMRRC Submission

040943-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3981 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37581111-37585375 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37582021 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 159 (A159V)

Ref Sequence

ENSEMBL: ENSMUSP00000035687 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038580]

AlphaFold

Q31093

PDB Structure

MODEL OF MHC CLASS I H2-M3 WITH NONAPEPTIDE FROM RAT ND1 REFINED AT 2.3 ANGSTROMS RESOLUTION [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000038580
AA Change: A159V

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035687
Gene: ENSMUSG00000016206
AA Change: A159V

Domain	Start	End	E-Value	Type
Pfam:MHC_I	25	203	6.6e-76	PFAM
IGc1	222	293	4.91e-21	SMART
transmembrane domain	306	328	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122476

Meta Mutation Damage Score

0.5045

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (58/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HLA-G belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-G is expressed on fetal derived placental cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exon 6 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]
PHENOTYPE: At least three alleles are known for this locus: allele a, found in C57BL/6, C3H-Pgk1a, NZO and NMRI, and allele c, found in M. spretus determine distinct antigen specificities. Allele b, found in M.m. castaneus results in absence of antigen. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	G	11: 9,482,407 (GRCm39)	C4313G	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Bckdk	C	A	7: 127,504,590 (GRCm39)	R105S	probably damaging	Het
Bhlhe22	G	T	3: 18,109,058 (GRCm39)	R36L	probably damaging	Het
Cacnb2	A	G	2: 14,609,314 (GRCm39)	E18G	probably benign	Het
Cct2	G	A	10: 116,890,040 (GRCm39)	P10L	probably damaging	Het
Cep295	G	T	9: 15,228,363 (GRCm39)		probably benign	Het
Cep89	A	G	7: 35,137,808 (GRCm39)	R731G	probably damaging	Het
Chrnb3	C	T	8: 27,884,034 (GRCm39)	T257M	probably damaging	Het
Clca3a1	T	A	3: 144,461,070 (GRCm39)	T194S	probably benign	Het
Clca4b	T	C	3: 144,631,797 (GRCm39)	K236R	probably benign	Het
Col18a1	C	A	10: 76,924,721 (GRCm39)	D23Y	probably damaging	Het
Cry1	A	T	10: 84,982,456 (GRCm39)	Y297N	probably damaging	Het
Defb38	A	G	8: 19,076,483 (GRCm39)		probably null	Het
Dlgap1	A	G	17: 70,823,780 (GRCm39)	K255R	probably damaging	Het
Erich6	T	C	3: 58,544,125 (GRCm39)	E154G	probably benign	Het
Esf1	G	A	2: 140,000,476 (GRCm39)	P437S	probably benign	Het
Fkbp7	A	C	2: 76,493,601 (GRCm39)	N197K	probably damaging	Het
Fsip2	T	A	2: 82,789,006 (GRCm39)	D342E	probably benign	Het
Gbx1	T	C	5: 24,731,213 (GRCm39)	D201G	probably benign	Het
Gm15056	T	A	8: 21,390,957 (GRCm39)	K25N	possibly damaging	Het
Grb7	T	G	11: 98,345,391 (GRCm39)		probably benign	Het
Hcar1	T	C	5: 124,016,683 (GRCm39)	N336S	probably benign	Het
Ift122	T	C	6: 115,890,882 (GRCm39)	V807A	probably benign	Het
Maml2	T	C	9: 13,532,364 (GRCm39)	V526A	possibly damaging	Het
Map3k20	C	T	2: 72,268,571 (GRCm39)	T526I	probably damaging	Het
Mfap2	A	G	4: 140,741,554 (GRCm39)	Q71R	possibly damaging	Het
Mmd2	T	C	5: 142,550,554 (GRCm39)	Y228C	probably damaging	Het
Mme	T	A	3: 63,235,485 (GRCm39)	Y178N	probably damaging	Het
Mras	T	C	9: 99,293,469 (GRCm39)	D57G	probably damaging	Het
Muc5ac	T	C	7: 141,367,512 (GRCm39)	C2274R	possibly damaging	Het
Or8j3c	T	A	2: 86,253,186 (GRCm39)	Y278F	probably damaging	Het
Palmd	T	C	3: 116,717,472 (GRCm39)	T342A	probably benign	Het
Prb1b	G	A	6: 132,289,657 (GRCm39)	P56S	unknown	Het
Rdh19	A	G	10: 127,686,017 (GRCm39)	N43S	probably benign	Het
Ros1	G	A	10: 51,996,974 (GRCm39)	H1233Y	possibly damaging	Het
Samd8	A	G	14: 21,830,248 (GRCm39)	R225G	probably null	Het
Slc7a11	C	A	3: 50,382,223 (GRCm39)	V175L	probably benign	Het
Spata31d1c	A	G	13: 65,182,925 (GRCm39)	T156A	possibly damaging	Het
Spata31g1	C	T	4: 42,971,534 (GRCm39)	T289I	probably damaging	Het
Spmip9	T	C	6: 70,890,283 (GRCm39)	N170D	possibly damaging	Het
Stxbp5	T	C	10: 9,665,060 (GRCm39)		probably benign	Het
Tec	T	A	5: 72,980,942 (GRCm39)		probably benign	Het
Vps16	T	C	2: 130,284,514 (GRCm39)	W728R	possibly damaging	Het
Xirp1	T	C	9: 119,846,810 (GRCm39)	E691G	probably damaging	Het
Zfp605	T	C	5: 110,275,604 (GRCm39)	S241P	probably damaging	Het
Zfp839	G	A	12: 110,832,765 (GRCm39)	G561D	probably damaging	Het

Other mutations in H2-M3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01630:H2-M3	APN	17	37,581,548 (GRCm39)	missense	possibly damaging	0.89
IGL01891:H2-M3	APN	17	37,583,608 (GRCm39)	missense	probably benign	0.23
IGL02689:H2-M3	APN	17	37,581,432 (GRCm39)	nonsense	probably null
IGL02755:H2-M3	APN	17	37,581,913 (GRCm39)	missense	possibly damaging	0.81
IGL02994:H2-M3	APN	17	37,581,629 (GRCm39)	missense	probably benign
IGL03135:H2-M3	APN	17	37,583,324 (GRCm39)	missense	possibly damaging	0.90
IGL03177:H2-M3	APN	17	37,581,207 (GRCm39)	missense	possibly damaging	0.86
R1328:H2-M3	UTSW	17	37,581,925 (GRCm39)	missense	possibly damaging	0.71
R1632:H2-M3	UTSW	17	37,582,054 (GRCm39)	missense	probably benign	0.01
R1919:H2-M3	UTSW	17	37,582,080 (GRCm39)	missense	possibly damaging	0.67
R4304:H2-M3	UTSW	17	37,583,295 (GRCm39)	missense	probably benign	0.07
R4620:H2-M3	UTSW	17	37,583,310 (GRCm39)	missense	probably damaging	0.97
R5765:H2-M3	UTSW	17	37,583,334 (GRCm39)	missense	probably damaging	0.97
R7262:H2-M3	UTSW	17	37,582,084 (GRCm39)	missense	probably damaging	1.00
R7437:H2-M3	UTSW	17	37,583,569 (GRCm39)	missense	probably benign	0.23
R7585:H2-M3	UTSW	17	37,581,599 (GRCm39)	missense	probably damaging	1.00
R7645:H2-M3	UTSW	17	37,581,620 (GRCm39)	missense	probably damaging	0.99
R9181:H2-M3	UTSW	17	37,583,172 (GRCm39)	missense	probably damaging	0.99
R9471:H2-M3	UTSW	17	37,581,988 (GRCm39)	missense	probably damaging	0.98
R9608:H2-M3	UTSW	17	37,581,159 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGCTCTCAGAAACCTTTAACCGG -3'
(R):5'- AAGTGGTTCCTAGTTGTTCCTC -3'

Sequencing Primer
(F):5'- AGGTCCAAATCCTGTTGGC -3'
(R):5'- TCATACCTGCTCGCTGAAGAATC -3'

Posted On

2015-10-08