Incidental Mutation 'R2884:H2-DMa'
ID 260991
Institutional Source Beutler Lab
Gene Symbol H2-DMa
Ensembl Gene ENSMUSG00000037649
Gene Name histocompatibility 2, class II, locus DMa
Synonyms H-2Ma, H2-Ma, H2-M alpha
MMRRC Submission 040472-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.236) question?
Stock # R2884 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 34338667-34358075 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34356121 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 41 (N41S)
Ref Sequence ENSEMBL: ENSMUSP00000037088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042121]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000042121
AA Change: N41S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000037088
Gene: ENSMUSG00000037649
AA Change: N41S

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
MHC_II_alpha 42 123 2.83e-19 SMART
IGc1 142 212 5.82e-23 SMART
transmembrane domain 231 253 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173706
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173907
Meta Mutation Damage Score 0.3130 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HLA-DMA belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta chain (DMB), both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired antigen presenting cell function, poor IgG responses to T-dependent antigens, reduced numbers of mature CD4+ T cells, and increased susceptibility to Leishmania major infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik G T 8: 120,872,250 (GRCm39) E59D possibly damaging Het
Arhgap27 T C 11: 103,251,669 (GRCm39) probably null Het
BC061237 A G 14: 44,738,627 (GRCm39) R9G possibly damaging Het
Brsk1 A G 7: 4,694,122 (GRCm39) probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cspg4b G T 13: 113,505,725 (GRCm39) A2285S probably benign Het
Cspg4b A T 13: 113,457,216 (GRCm39) Q1087H probably damaging Het
Dnajb5 A T 4: 42,957,355 (GRCm39) D284V probably damaging Het
Dnmt3a A G 12: 3,946,132 (GRCm39) D329G probably damaging Het
Ecd C T 14: 20,370,841 (GRCm39) G626D probably damaging Het
Exoc3l4 A G 12: 111,394,956 (GRCm39) D551G possibly damaging Het
Fam227b A T 2: 125,942,846 (GRCm39) I317N probably benign Het
Fam3c G A 6: 22,329,581 (GRCm39) R49C probably damaging Het
Fcrl5 A G 3: 87,364,698 (GRCm39) Y566C probably damaging Het
Fras1 A G 5: 96,848,127 (GRCm39) N1779S probably benign Het
Gm19965 T A 1: 116,749,313 (GRCm39) N331K probably benign Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
H2ac8 A G 13: 23,755,047 (GRCm39) I79T probably damaging Het
Habp4 A T 13: 64,330,080 (GRCm39) R328S probably benign Het
Hexb C T 13: 97,320,208 (GRCm39) G272D probably damaging Het
Lilrb4a A T 10: 51,367,709 (GRCm39) N84Y probably benign Het
Mtnr1a A G 8: 45,540,305 (GRCm39) T89A probably benign Het
Myh13 T A 11: 67,228,469 (GRCm39) N336K probably benign Het
Naca T C 10: 127,877,547 (GRCm39) probably benign Het
Naif1 C T 2: 32,344,887 (GRCm39) P197L probably benign Het
Nprl3 A G 11: 32,198,163 (GRCm39) L179P probably damaging Het
Nup93 A G 8: 95,030,266 (GRCm39) Y375C probably damaging Het
Or52b4 A G 7: 102,184,439 (GRCm39) I162V probably benign Het
Pcdha12 G A 18: 37,153,757 (GRCm39) D159N probably damaging Het
Plekhs1 G A 19: 56,459,258 (GRCm39) G39R probably benign Het
Ppp4r3a T C 12: 101,034,936 (GRCm39) E53G probably damaging Het
Prss48 A T 3: 85,904,562 (GRCm39) M212K probably benign Het
Pth A T 7: 112,985,235 (GRCm39) L46Q probably damaging Het
Rin2 A T 2: 145,702,911 (GRCm39) T536S probably benign Het
Setx T G 2: 29,038,637 (GRCm39) C1707W probably damaging Het
Stau2 A T 1: 16,301,290 (GRCm39) F519Y possibly damaging Het
Syne2 T G 12: 76,010,533 (GRCm39) V2481G probably benign Het
Tpte C T 8: 22,825,439 (GRCm39) Q331* probably null Het
Ttn G T 2: 76,730,596 (GRCm39) probably benign Het
Utrn A T 10: 12,615,105 (GRCm39) probably null Het
Vmn2r82 A G 10: 79,232,082 (GRCm39) I694V probably benign Het
Vmn2r88 G A 14: 51,651,391 (GRCm39) C235Y probably damaging Het
Xrn2 T A 2: 146,889,576 (GRCm39) V653E probably damaging Het
Znrf3 A T 11: 5,239,693 (GRCm39) D58E probably damaging Het
Other mutations in H2-DMa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03286:H2-DMa APN 17 34,356,083 (GRCm39) splice site probably null
R0422:H2-DMa UTSW 17 34,356,921 (GRCm39) missense probably damaging 1.00
R0620:H2-DMa UTSW 17 34,356,934 (GRCm39) missense probably damaging 0.96
R1240:H2-DMa UTSW 17 34,357,380 (GRCm39) critical splice acceptor site probably null
R1483:H2-DMa UTSW 17 34,354,724 (GRCm39) missense possibly damaging 0.61
R1656:H2-DMa UTSW 17 34,357,116 (GRCm39) missense possibly damaging 0.92
R1657:H2-DMa UTSW 17 34,356,373 (GRCm39) critical splice donor site probably null
R1696:H2-DMa UTSW 17 34,357,387 (GRCm39) missense probably benign 0.44
R2886:H2-DMa UTSW 17 34,356,121 (GRCm39) missense probably damaging 1.00
R5024:H2-DMa UTSW 17 34,357,461 (GRCm39) missense possibly damaging 0.77
R5236:H2-DMa UTSW 17 34,356,913 (GRCm39) missense probably damaging 1.00
R5632:H2-DMa UTSW 17 34,356,975 (GRCm39) missense probably benign 0.14
R6358:H2-DMa UTSW 17 34,356,958 (GRCm39) missense probably damaging 1.00
R6423:H2-DMa UTSW 17 34,356,170 (GRCm39) missense probably benign 0.05
R7033:H2-DMa UTSW 17 34,355,971 (GRCm39) splice site probably null
R7387:H2-DMa UTSW 17 34,357,101 (GRCm39) missense probably damaging 1.00
R8060:H2-DMa UTSW 17 34,356,259 (GRCm39) missense probably benign 0.05
R8504:H2-DMa UTSW 17 34,357,416 (GRCm39) missense probably damaging 1.00
R8813:H2-DMa UTSW 17 34,354,734 (GRCm39) critical splice donor site probably benign
R9442:H2-DMa UTSW 17 34,357,132 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- TTCCCAGGTGTACACAGTTG -3'
(R):5'- GCTTTTGTCAAATGCAATGGC -3'

Sequencing Primer
(F):5'- CCCAGGTGTACACAGTTGCTTTTG -3'
(R):5'- ATGGCAGAGGCATCCCC -3'
Posted On 2015-01-23