Incidental Mutation 'R9654:Mr1'
ID 727245
Institutional Source Beutler Lab
Gene Symbol Mr1
Ensembl Gene ENSMUSG00000026471
Gene Name major histocompatibility complex, class I-related
Synonyms MR1, H2ls
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R9654 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 155003620-155022560 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 155013430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 49 (H49R)
Ref Sequence ENSEMBL: ENSMUSP00000027744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027744] [ENSMUST00000192410] [ENSMUST00000194612]
AlphaFold Q8HWB0
Predicted Effect possibly damaging
Transcript: ENSMUST00000027744
AA Change: H49R

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000027744
Gene: ENSMUSG00000026471
AA Change: H49R

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:MHC_I 19 194 1.8e-59 PFAM
Pfam:MHC_I_3 46 193 3.9e-12 PFAM
IGc1 213 284 1.51e-12 SMART
transmembrane domain 297 319 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000192410
AA Change: H49R

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141476
Gene: ENSMUSG00000026471
AA Change: H49R

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:MHC_I 19 87 8e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194612
SMART Domains Protein: ENSMUSP00000142195
Gene: ENSMUSG00000026471

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
PDB:4NQE|C 19 44 3e-7 PDB
SCOP:d1de4a2 19 44 3e-10 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MAIT (mucosal-associated invariant T-cells) lymphocytes represent a small population of T-cells primarily found in the gut. The protein encoded by this gene is an antigen-presenting molecule that presents metabolites of microbial vitamin B to MAITs. This presentation may activate the MAITs to regulate the amounts of specific types of bacteria in the gut. Several transcript variants encoding different isoforms have been found for this gene, and a pseudogene of it has been detected about 36 kbp upstream on the same chromosome. [provided by RefSeq, Jul 2015]
PHENOTYPE: Null homozyogtes lack mucosal-associated invariant T cells that express the canonical mVa19-Ja33 rearrangement of the Tcra gene. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T C 15: 81,948,916 (GRCm39) S938P possibly damaging Het
Abca17 G T 17: 24,536,099 (GRCm39) H523N probably benign Het
Alx1 T A 10: 102,858,093 (GRCm39) H202L probably benign Het
Amotl1 T A 9: 14,462,981 (GRCm39) H744L probably benign Het
Ankrd50 A T 3: 38,511,018 (GRCm39) S450T probably benign Het
Aoc1l1 T C 6: 48,952,837 (GRCm39) L254P probably damaging Het
Arhgef25 C T 10: 127,021,955 (GRCm39) S200N probably damaging Het
Arl4c G T 1: 88,629,361 (GRCm39) S9* probably null Het
Bod1l A G 5: 41,975,707 (GRCm39) M1869T probably benign Het
Btnl6 G A 17: 34,733,140 (GRCm39) P241L probably damaging Het
Cacng8 C T 7: 3,443,002 (GRCm39) R88W probably damaging Het
Ccdc154 C T 17: 25,386,684 (GRCm39) T262I possibly damaging Het
Clmn C A 12: 104,748,193 (GRCm39) E451D probably damaging Het
Dnah14 A T 1: 181,593,904 (GRCm39) I3416L probably benign Het
Dnah17 A G 11: 117,927,156 (GRCm39) probably null Het
Dnah3 T A 7: 119,641,396 (GRCm39) K1175* probably null Het
Dock8 C T 19: 25,124,710 (GRCm39) R1009W probably damaging Het
Fhip1a G T 3: 85,579,532 (GRCm39) T891K probably damaging Het
Fkbp15 A G 4: 62,230,553 (GRCm39) V720A probably benign Het
Fryl G T 5: 73,275,801 (GRCm39) P121Q probably benign Het
H2-Q6 C T 17: 35,644,185 (GRCm39) R56C probably damaging Het
Hbs1l T C 10: 21,183,604 (GRCm39) V115A possibly damaging Het
Heatr5a G A 12: 52,005,778 (GRCm39) P66S probably damaging Het
Hsd17b4 A G 18: 50,272,533 (GRCm39) D44G probably benign Het
Idh3a T C 9: 54,497,182 (GRCm39) V41A probably benign Het
Itih1 T A 14: 30,664,870 (GRCm39) K37M probably damaging Het
Lama1 A G 17: 68,101,266 (GRCm39) T1920A Het
Ltn1 G C 16: 87,207,227 (GRCm39) D904E probably benign Het
Map6 T C 7: 98,986,166 (GRCm39) I893T probably damaging Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Myh2 T C 11: 67,088,171 (GRCm39) V1929A probably benign Het
Ncoa4 C A 14: 31,896,465 (GRCm39) P230Q probably benign Het
Npy4r T A 14: 33,869,081 (GRCm39) Q69L probably damaging Het
Nup210l C T 3: 90,107,173 (GRCm39) P1570L probably benign Het
Nus1 T G 10: 52,294,130 (GRCm39) L98R possibly damaging Het
Or10ag55-ps1 C T 2: 87,115,071 (GRCm39) L146F probably benign Het
Or14c42-ps1 T A 7: 86,210,950 (GRCm39) N3K unknown Het
Or2w4 T C 13: 21,795,915 (GRCm39) T75A possibly damaging Het
Or4c11b T C 2: 88,625,263 (GRCm39) L179S probably damaging Het
Or5k17 T A 16: 58,746,752 (GRCm39) I61F probably benign Het
Pcdha11 A C 18: 37,145,333 (GRCm39) T475P probably damaging Het
Pex5l C A 3: 33,010,827 (GRCm39) A384S probably benign Het
Pgk2 T A 17: 40,518,651 (GRCm39) D259V probably damaging Het
Rhbdf1 T C 11: 32,166,028 (GRCm39) M52V probably benign Het
Rsph6a T A 7: 18,799,332 (GRCm39) L321Q probably damaging Het
Sugp1 T A 8: 70,522,656 (GRCm39) M452K probably damaging Het
Sult2a6 T G 7: 13,956,445 (GRCm39) D272A probably benign Het
Tlr6 A T 5: 65,112,697 (GRCm39) L70Q probably damaging Het
Tmem178b A T 6: 40,222,534 (GRCm39) Y83F probably benign Het
Tmprss4 C T 9: 45,090,700 (GRCm39) probably null Het
Trpv4 A G 5: 114,764,887 (GRCm39) L709P probably benign Het
Utp15 G A 13: 98,385,668 (GRCm39) T519M probably benign Het
Vmn2r59 T C 7: 41,693,217 (GRCm39) N461S probably benign Het
Zap70 T C 1: 36,818,327 (GRCm39) V338A probably benign Het
Other mutations in Mr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03216:Mr1 APN 1 155,005,035 (GRCm39) missense possibly damaging 0.51
R0612:Mr1 UTSW 1 155,013,436 (GRCm39) missense probably damaging 1.00
R1388:Mr1 UTSW 1 155,008,249 (GRCm39) missense probably damaging 0.98
R1655:Mr1 UTSW 1 155,008,201 (GRCm39) missense probably benign 0.05
R2157:Mr1 UTSW 1 155,022,376 (GRCm39) critical splice donor site probably null
R2437:Mr1 UTSW 1 155,008,277 (GRCm39) missense probably benign 0.07
R3421:Mr1 UTSW 1 155,013,337 (GRCm39) missense probably damaging 1.00
R4224:Mr1 UTSW 1 155,006,465 (GRCm39) missense possibly damaging 0.62
R4240:Mr1 UTSW 1 155,012,413 (GRCm39) missense probably damaging 1.00
R4711:Mr1 UTSW 1 155,012,336 (GRCm39) missense probably benign 0.00
R4849:Mr1 UTSW 1 155,006,436 (GRCm39) missense probably benign 0.00
R5915:Mr1 UTSW 1 155,012,534 (GRCm39) missense probably damaging 1.00
R6882:Mr1 UTSW 1 155,008,199 (GRCm39) missense possibly damaging 0.54
R6940:Mr1 UTSW 1 155,005,014 (GRCm39) makesense probably null
R7315:Mr1 UTSW 1 155,005,036 (GRCm39) missense probably benign
R7567:Mr1 UTSW 1 155,022,474 (GRCm39) start gained probably benign
R7751:Mr1 UTSW 1 155,005,054 (GRCm39) missense probably damaging 1.00
R7818:Mr1 UTSW 1 155,006,382 (GRCm39) nonsense probably null
R9250:Mr1 UTSW 1 155,013,325 (GRCm39) missense probably damaging 1.00
R9284:Mr1 UTSW 1 155,013,274 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TCTGCTACAGTCACACCTGAG -3'
(R):5'- ACAGCTGAAGTCTTTCCAGATCG -3'

Sequencing Primer
(F):5'- CCTGAGTGGTTGTAGTGCCTC -3'
(R):5'- AGTCTTTCCAGATCGTAATTACTAGG -3'
Posted On 2022-10-06