Incidental Mutation 'R9181:H2-M3'
ID 697047
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9181 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 37581111-37585375 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 37583172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 211 (A211E)
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: A211E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000035687
Gene: ENSMUSG00000016206
AA Change: A211E

DomainStartEndE-ValueType
Pfam:MHC_I 25 203 6.6e-76 PFAM
IGc1 222 293 4.91e-21 SMART
transmembrane domain 306 328 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (53/53)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 G T 5: 105,121,962 (GRCm39) D138E probably benign Het
Acvr2a T A 2: 48,760,307 (GRCm39) I21K probably damaging Het
Adam30 C G 3: 98,070,194 (GRCm39) P676A probably benign Het
Ankrd28 A C 14: 31,470,627 (GRCm39) H145Q probably damaging Het
Ap3m2 A G 8: 23,289,774 (GRCm39) Y110H probably damaging Het
Apoc4 A G 7: 19,412,665 (GRCm39) S27P possibly damaging Het
Bbs1 A C 19: 4,941,070 (GRCm39) L548R possibly damaging Het
Cfap99 A T 5: 34,471,602 (GRCm39) D346V probably damaging Het
Ckmt1 T A 2: 121,189,870 (GRCm39) probably benign Het
Col13a1 T C 10: 61,703,612 (GRCm39) K436E possibly damaging Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Dbf4 A G 5: 8,462,206 (GRCm39) V105A possibly damaging Het
Disp2 T A 2: 118,617,393 (GRCm39) V129E probably benign Het
Dnah7b T C 1: 46,181,194 (GRCm39) V1027A probably damaging Het
Dst T A 1: 34,231,818 (GRCm39) I3137N probably benign Het
F5 A G 1: 164,019,895 (GRCm39) D790G probably benign Het
Fan1 A G 7: 64,016,400 (GRCm39) S575P probably damaging Het
Gemin5 C T 11: 58,021,035 (GRCm39) A1051T probably benign Het
Gsta4 A G 9: 78,105,597 (GRCm39) Y9C probably damaging Het
Ifna1 A T 4: 88,768,453 (GRCm39) M44L probably benign Het
Ildr2 A T 1: 166,122,283 (GRCm39) D242V probably damaging Het
Kif27 G T 13: 58,492,543 (GRCm39) Q199K probably damaging Het
Lmf1 T A 17: 25,804,718 (GRCm39) L132H probably damaging Het
Mbtd1 A G 11: 93,803,241 (GRCm39) N173S probably benign Het
Mettl25b A G 3: 87,835,392 (GRCm39) probably benign Het
Mgat4c A T 10: 102,225,123 (GRCm39) N446Y probably benign Het
Minar1 A G 9: 89,485,394 (GRCm39) M1T probably null Het
Mocs1 T A 17: 49,756,801 (GRCm39) M261K probably damaging Het
Nlrp10 A T 7: 108,524,108 (GRCm39) F457L probably damaging Het
Nlrp4e C T 7: 23,061,270 (GRCm39) R954* probably null Het
Or4s2 T C 2: 88,473,348 (GRCm39) M79T probably benign Het
Pigu T C 2: 155,141,109 (GRCm39) I261M probably damaging Het
Pkd1l3 T A 8: 110,375,318 (GRCm39) I1576N probably damaging Het
Plekhg6 A C 6: 125,355,854 (GRCm39) probably benign Het
Pmpca T C 2: 26,283,365 (GRCm39) L388P probably damaging Het
Polg A T 7: 79,104,421 (GRCm39) I818N probably damaging Het
Pramel46 A T 5: 95,418,414 (GRCm39) V194D probably benign Het
Radil A G 5: 142,480,722 (GRCm39) Y578H probably damaging Het
Retnlb A G 16: 48,639,084 (GRCm39) D95G probably damaging Het
Rufy2 A T 10: 62,836,166 (GRCm39) Y365F possibly damaging Het
Ssc5d A G 7: 4,945,814 (GRCm39) T949A possibly damaging Het
Svil C A 18: 5,090,833 (GRCm39) R1312S possibly damaging Het
Syne1 T C 10: 5,063,994 (GRCm39) T7142A probably damaging Het
Tert A T 13: 73,785,294 (GRCm39) probably benign Het
Tpbgl A T 7: 99,274,776 (GRCm39) D360E probably damaging Het
Traj13 G A 14: 54,443,248 (GRCm39) V17I unknown Het
Trim13 G A 14: 61,842,046 (GRCm39) R21Q possibly damaging Het
Wdr36 T C 18: 32,981,382 (GRCm39) V357A possibly damaging Het
Xdh G A 17: 74,232,006 (GRCm39) R235C probably damaging Het
Zfp971 T C 2: 177,674,736 (GRCm39) F112L probably damaging Het
Znfx1 C T 2: 166,879,738 (GRCm39) C1546Y probably damaging Het
Znfx1 T A 2: 166,880,137 (GRCm39) E1413V probably benign Het
Zscan4c A G 7: 10,743,741 (GRCm39) M447V probably benign Het
Zyx T A 6: 42,334,818 (GRCm39) D541E probably damaging Het
Other mutations in H2-M3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CCCTGATTTTAGAACATTCCAAGG -3'
(R):5'- ATCTCTGCTCCTCTCCAGAAGG -3'

Sequencing Primer
(F):5'- GAATGGATCATGATAGGTCCCTG -3'
(R):5'- CACAGCTGCCCACTTCTGG -3'
Posted On 2022-02-07