Incidental Mutation 'R1919:H2-M3'
ID 212894
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 039937-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1919 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 37581111-37585375 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37582080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 179 (Y179H)
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 possibly damaging
Transcript: ENSMUST00000038580
AA Change: Y179H

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000035687
Gene: ENSMUSG00000016206
AA Change: Y179H

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122476
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.7%
  • 20x: 93.3%
Validation Efficiency
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,031 (GRCm39) E740G probably damaging Het
4930474N05Rik G T 14: 35,817,414 (GRCm39) V105F possibly damaging Het
Actr10 A G 12: 70,989,104 (GRCm39) I74M probably benign Het
Aen T C 7: 78,555,660 (GRCm39) Y108H probably damaging Het
Afm A T 5: 90,672,779 (GRCm39) K205* probably null Het
Ankrd27 T A 7: 35,332,410 (GRCm39) S846T probably benign Het
Ano3 A G 2: 110,715,352 (GRCm39) S29P probably benign Het
Apaf1 C T 10: 90,913,476 (GRCm39) W138* probably null Het
Arfgef1 C T 1: 10,270,103 (GRCm39) A349T probably benign Het
Arhgef4 A G 1: 34,850,221 (GRCm39) Q1798R probably damaging Het
Astn1 G A 1: 158,337,541 (GRCm39) V416I probably damaging Het
Atxn2l G A 7: 126,092,340 (GRCm39) T70I probably damaging Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Bltp1 A G 3: 37,061,132 (GRCm39) probably null Het
Bspry T A 4: 62,413,034 (GRCm39) C256S probably damaging Het
C3 C A 17: 57,527,135 (GRCm39) W771C probably damaging Het
Camkv A G 9: 107,824,287 (GRCm39) D233G possibly damaging Het
Catsperd T A 17: 56,942,548 (GRCm39) V109E probably damaging Het
Cd101 A G 3: 100,926,233 (GRCm39) L162P probably damaging Het
Cdr2l A G 11: 115,283,603 (GRCm39) T154A probably damaging Het
Clca3a2 G C 3: 144,516,457 (GRCm39) Q380E probably benign Het
Col6a3 T C 1: 90,750,081 (GRCm39) N251S possibly damaging Het
Cttnbp2nl A G 3: 104,918,594 (GRCm39) V82A possibly damaging Het
Cux1 G A 5: 136,392,173 (GRCm39) Q194* probably null Het
Daam2 T C 17: 49,792,485 (GRCm39) E361G probably benign Het
Dcaf17 A T 2: 70,908,516 (GRCm39) probably null Het
Dnai1 T C 4: 41,570,020 (GRCm39) probably null Het
Eml5 T C 12: 98,765,098 (GRCm39) Y1617C probably damaging Het
Epb41l4b T C 4: 57,040,993 (GRCm39) E490G probably damaging Het
Epha7 T C 4: 28,963,969 (GRCm39) M988T possibly damaging Het
Fancm T C 12: 65,152,294 (GRCm39) C917R possibly damaging Het
Fnip1 C T 11: 54,371,510 (GRCm39) T177I probably damaging Het
Gm3604 G T 13: 62,517,756 (GRCm39) H201N probably benign Het
Gnpda1 T C 18: 38,466,243 (GRCm39) probably null Het
Gpatch8 A G 11: 102,398,968 (GRCm39) probably null Het
H2-Q10 C A 17: 35,781,385 (GRCm39) S62R probably damaging Het
Hipk2 G A 6: 38,795,919 (GRCm39) R117* probably null Het
Hrg A T 16: 22,773,207 (GRCm39) Q113H probably damaging Het
Kcnj16 T C 11: 110,915,779 (GRCm39) V147A possibly damaging Het
Kif1a T C 1: 92,946,753 (GRCm39) I1650V possibly damaging Het
Kmt2a C T 9: 44,731,642 (GRCm39) probably benign Het
Krt90 A T 15: 101,465,665 (GRCm39) Y319N probably damaging Het
Lipo4 T C 19: 33,476,671 (GRCm39) N359S possibly damaging Het
Lrp1b G T 2: 41,618,741 (GRCm39) T225K probably benign Het
Map1a C T 2: 121,137,493 (GRCm39) P2532S probably damaging Het
Mmrn2 A G 14: 34,119,600 (GRCm39) D193G probably benign Het
Mpped2 T A 2: 106,697,377 (GRCm39) I284N probably damaging Het
Msh6 A G 17: 88,292,553 (GRCm39) H436R probably benign Het
Mterf3 A T 13: 67,078,126 (GRCm39) S48T probably damaging Het
Muc5b T C 7: 141,399,768 (GRCm39) F414L unknown Het
Mylk4 A T 13: 32,908,836 (GRCm39) D90E probably benign Het
Nherf4 T C 9: 44,161,600 (GRCm39) D93G possibly damaging Het
Nploc4 A G 11: 120,295,055 (GRCm39) Y420H probably damaging Het
Npr2 T A 4: 43,640,578 (GRCm39) Y344N probably damaging Het
Nsun5 A G 5: 135,404,452 (GRCm39) T397A probably benign Het
Ntsr2 A T 12: 16,704,111 (GRCm39) Q204L probably damaging Het
Nwd2 T A 5: 63,963,523 (GRCm39) Y1036N probably damaging Het
Oacyl T C 18: 65,843,618 (GRCm39) V105A possibly damaging Het
Or6c2 T A 10: 129,362,918 (GRCm39) V274D probably damaging Het
Parp3 T A 9: 106,352,316 (GRCm39) Q70L possibly damaging Het
Parp4 T C 14: 56,861,474 (GRCm39) S936P probably damaging Het
Phkb A G 8: 86,648,790 (GRCm39) E202G probably benign Het
Pink1 T C 4: 138,041,331 (GRCm39) N530S probably benign Het
Pou3f2 T C 4: 22,487,119 (GRCm39) D338G probably damaging Het
Prss8 G T 7: 127,529,030 (GRCm39) L9I probably benign Het
Ptpn22 G A 3: 103,784,054 (GRCm39) probably null Het
Rad54b A C 4: 11,601,693 (GRCm39) N416T probably damaging Het
Rasef A G 4: 73,662,351 (GRCm39) S200P possibly damaging Het
Rb1 T A 14: 73,450,430 (GRCm39) K645* probably null Het
Robo2 C T 16: 73,696,042 (GRCm39) G1367D probably benign Het
Rp1 A G 1: 4,422,894 (GRCm39) V52A probably damaging Het
Samd13 T C 3: 146,368,467 (GRCm39) T23A probably benign Het
Scn7a T C 2: 66,530,317 (GRCm39) H676R probably damaging Het
Serpinb6b A G 13: 33,162,223 (GRCm39) I222V probably benign Het
Slc2a8 T C 2: 32,870,091 (GRCm39) Y150C probably damaging Het
Slc7a6os C A 8: 106,937,196 (GRCm39) R88L probably damaging Het
Slc8a2 A G 7: 15,886,845 (GRCm39) I657V probably benign Het
Slit2 C A 5: 48,348,358 (GRCm39) probably benign Het
Spire2 A G 8: 124,089,810 (GRCm39) D447G probably benign Het
Sptlc3 A G 2: 139,408,595 (GRCm39) N237D possibly damaging Het
Stk3 G A 15: 35,073,363 (GRCm39) T119I probably damaging Het
Suv39h2 G A 2: 3,465,353 (GRCm39) T334I probably damaging Het
Syt5 G T 7: 4,543,278 (GRCm39) T327N probably damaging Het
Tcof1 T C 18: 60,949,156 (GRCm39) D1253G possibly damaging Het
Timd5 A G 11: 46,419,358 (GRCm39) D58G possibly damaging Het
Tnks A T 8: 35,342,386 (GRCm39) V388D probably damaging Het
Ugt2b1 T C 5: 87,073,859 (GRCm39) T167A probably benign Het
Usp40 G A 1: 87,923,564 (GRCm39) R236C possibly damaging Het
Utrn T C 10: 12,331,224 (GRCm39) D2904G probably benign Het
Vmn1r226 T C 17: 20,907,842 (GRCm39) S25P probably damaging Het
Vmn2r23 T C 6: 123,689,969 (GRCm39) S282P possibly damaging Het
Vps45 T C 3: 95,953,752 (GRCm39) E200G probably benign Het
Wnt7b T A 15: 85,443,281 (GRCm39) I41F probably damaging Het
Zmym6 T A 4: 126,997,207 (GRCm39) N275K 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
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
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'- TAGGCTCTCACATCCTGCAG -3'
(R):5'- TCCTTGTGCAGTATTCCAGCG -3'

Sequencing Primer
(F):5'- ATCCTGCAGTGGATGGTTTCC -3'
(R):5'- GCAGTATTCCAGCGGATCTG -3'
Posted On 2014-07-14