Mutagenetix > Incidental Mutation

Incidental Mutation 'R5765:H2-M3'

446248

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

043366-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5765 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37581111-37585375 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37583334 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 265 (F265S)

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: F265S

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035687
Gene: ENSMUSG00000016206
AA Change: F265S

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: ENSMUST00000173568

Meta Mutation Damage Score

0.5368

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

94% (51/54)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700086D15Rik	A	T	11: 65,044,066 (GRCm39)		probably benign	Het
Abcf2	T	C	5: 24,778,421 (GRCm39)	R246G	probably damaging	Het
Adamts19	G	T	18: 59,185,654 (GRCm39)	C1176F	probably damaging	Het
Adh7	G	A	3: 137,932,090 (GRCm39)	V235I	probably benign	Het
Aoc1l1	C	T	6: 48,955,471 (GRCm39)	P694S	probably damaging	Het
Caprin2	G	C	6: 148,744,666 (GRCm39)	P701A	probably damaging	Het
Casp7	T	C	19: 56,422,315 (GRCm39)	V110A	possibly damaging	Het
Cd1d2	A	T	3: 86,894,549 (GRCm39)	M106L	probably benign	Het
Cntnap2	C	T	6: 46,506,749 (GRCm39)		probably benign	Het
Cpm	A	G	10: 117,507,638 (GRCm39)	I252V	probably benign	Het
Dnaaf2	A	C	12: 69,239,627 (GRCm39)	I631M	probably damaging	Het
Fads2b	T	G	2: 85,314,538 (GRCm39)		probably null	Het
Fam117b	A	G	1: 60,009,631 (GRCm39)		probably null	Het
Fbxw22	T	C	9: 109,214,064 (GRCm39)	M251V	probably benign	Het
Fignl1	T	C	11: 11,752,011 (GRCm39)		probably null	Het
Foxp1	G	A	6: 98,992,423 (GRCm39)	L156F	probably damaging	Het
Gdap1	A	T	1: 17,231,650 (GRCm39)	M332L	probably benign	Het
Il1rl1	C	T	1: 40,501,103 (GRCm39)	A493V	probably benign	Het
Iqce	A	G	5: 140,651,895 (GRCm39)	S359P	probably damaging	Het
Kif2b	C	T	11: 91,468,068 (GRCm39)	E72K	probably benign	Het
Luzp1	T	C	4: 136,268,340 (GRCm39)	S188P	probably damaging	Het
Med13l	T	A	5: 118,866,707 (GRCm39)	L587Q	probably damaging	Het
Mocs2	A	G	13: 114,962,692 (GRCm39)		probably null	Het
Mtnr1b	T	C	9: 15,774,459 (GRCm39)	Y200C	probably damaging	Het
Nalcn	C	T	14: 123,702,138 (GRCm39)	V458I	possibly damaging	Het
Nbea	C	T	3: 55,912,719 (GRCm39)	V1023I	probably benign	Het
Nbeal1	T	A	1: 60,331,006 (GRCm39)	V2205D	probably damaging	Het
Nfe2l3	A	G	6: 51,434,226 (GRCm39)	D262G	probably damaging	Het
Nsfl1c	T	C	2: 151,346,085 (GRCm39)	Y169H	probably damaging	Het
Pcdhac1	A	T	18: 37,223,372 (GRCm39)	R62*	probably null	Het
Pcdhga1	A	G	18: 37,796,714 (GRCm39)	T573A	probably benign	Het
Plin4	C	T	17: 56,409,470 (GRCm39)	C1276Y	possibly damaging	Het
Ppp6r1	C	A	7: 4,645,207 (GRCm39)	R220L	possibly damaging	Het
Ptprz1	T	G	6: 23,000,235 (GRCm39)	V775G	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc17a6	A	G	7: 51,275,249 (GRCm39)	T103A	possibly damaging	Het
Spock1	A	T	13: 57,577,217 (GRCm39)	L404Q	probably benign	Het
Stradb	C	A	1: 59,031,903 (GRCm39)	H272N	probably benign	Het
Strn3	A	G	12: 51,680,410 (GRCm39)	S397P	probably benign	Het
Synpo2l	C	T	14: 20,716,198 (GRCm39)	R126H	possibly damaging	Het
Tas2r104	A	G	6: 131,662,236 (GRCm39)	Y158H	probably benign	Het
Tiparp	T	A	3: 65,438,771 (GRCm39)	I29N	possibly damaging	Het
Tnpo1	G	A	13: 98,996,349 (GRCm39)	T484M	probably benign	Het
Tsc22d4	A	G	5: 137,756,805 (GRCm39)	I78V	probably benign	Het
Ugt2b1	T	C	5: 87,067,265 (GRCm39)	Y386C	probably benign	Het
Ugt2b38	A	G	5: 87,571,954 (GRCm39)	V26A	probably damaging	Het
Vmn2r116	G	A	17: 23,620,378 (GRCm39)	C704Y	probably damaging	Het
Vmn2r97	T	A	17: 19,167,442 (GRCm39)	Y565*	probably null	Het
Zfand2b	T	A	1: 75,147,171 (GRCm39)		probably null	Het
Zzef1	C	T	11: 72,712,763 (GRCm39)	Q228*	probably null	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
R3981:H2-M3	UTSW	17	37,582,021 (GRCm39)	missense	probably damaging	0.97
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
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'- CCCTAATTCTGTCCATCCAGAGG -3'
(R):5'- AGGGTGAGAGTCATGATGCC -3'

Sequencing Primer
(F):5'- GGATGCTCCTATGATCTCCAATGAC -3'
(R):5'- AGAGTCATGATGCCCAGTTC -3'

Posted On

2016-11-21