Incidental Mutation 'R3084:Mmd'
ID 265541
Institutional Source Beutler Lab
Gene Symbol Mmd
Ensembl Gene ENSMUSG00000003948
Gene Name monocyte to macrophage differentiation-associated
Synonyms 1200017E07Rik, Paqr11, 1810073C06Rik
MMRRC Submission 040573-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R3084 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 90140282-90169415 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 90156911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 129 (R129C)
Ref Sequence ENSEMBL: ENSMUSP00000103519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004050] [ENSMUST00000107887]
AlphaFold Q9CQY7
Predicted Effect probably damaging
Transcript: ENSMUST00000004050
AA Change: R129C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004050
Gene: ENSMUSG00000003948
AA Change: R129C

DomainStartEndE-ValueType
low complexity region 1 14 N/A INTRINSIC
Pfam:HlyIII 24 220 9.9e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107887
AA Change: R129C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103519
Gene: ENSMUSG00000003948
AA Change: R129C

DomainStartEndE-ValueType
low complexity region 1 14 N/A INTRINSIC
Pfam:HlyIII 23 179 8.8e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210131
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211334
Meta Mutation Damage Score 0.6535 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (43/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein is expressed by in vitro differentiated macrophages but not freshly isolated monocytes. Although sequence analysis identifies seven potential transmembrane domains, this protein has little homology to G-protein receptors and it has not been positively identified as a receptor. A suggested alternative function is that of an ion channel protein in maturing macrophages. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra3 A T 5: 50,170,733 (GRCm39) probably null Het
Alms1 A G 6: 85,655,122 (GRCm39) R3223G probably benign Het
Arhgef26 T C 3: 62,285,037 (GRCm39) V431A probably benign Het
Cabyr T C 18: 12,884,023 (GRCm39) V170A probably damaging Het
Cenpe A G 3: 134,946,782 (GRCm39) E1099G probably damaging Het
Creb3l1 G T 2: 91,825,789 (GRCm39) probably null Het
Cyp2c38 T C 19: 39,390,145 (GRCm39) I352V probably benign Het
Dhrs2 G T 14: 55,477,301 (GRCm39) V179L probably benign Het
Dhx9 T C 1: 153,341,445 (GRCm39) D601G probably benign Het
Dlg5 T C 14: 24,216,258 (GRCm39) T595A probably damaging Het
Fhip1a T A 3: 85,573,275 (GRCm39) probably null Het
Frk G A 10: 34,483,950 (GRCm39) G437D probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gm5699 G T 1: 31,037,873 (GRCm39) noncoding transcript Het
Gsg1l C T 7: 125,490,852 (GRCm39) R284H probably benign Het
Ifit3 A T 19: 34,564,640 (GRCm39) H62L probably damaging Het
Krt34 T C 11: 99,931,847 (GRCm39) N124S probably damaging Het
Megf8 T A 7: 25,048,444 (GRCm39) Y1706N probably damaging Het
Or4f60 C A 2: 111,902,320 (GRCm39) G203* probably null Het
Or4k36 A G 2: 111,146,461 (GRCm39) I212M probably benign Het
Pde6d T C 1: 86,475,248 (GRCm39) probably null Het
Pomt1 G T 2: 32,134,252 (GRCm39) V258L probably benign Het
Ppp2r5e T C 12: 75,515,390 (GRCm39) I215V probably benign Het
Ranbp10 A T 8: 106,501,263 (GRCm39) L329Q probably damaging Het
Robo1 T A 16: 72,801,625 (GRCm39) L1083Q probably benign Het
Rsph4a G C 10: 33,785,198 (GRCm39) V370L probably damaging Het
Smarcc2 T C 10: 128,324,028 (GRCm39) probably benign Het
Sun1 T C 5: 139,221,356 (GRCm39) V357A probably benign Het
Svop T C 5: 114,180,299 (GRCm39) T283A probably benign Het
Tep1 A T 14: 51,064,511 (GRCm39) probably null Het
Tet1 T C 10: 62,715,400 (GRCm39) K132E probably benign Het
Tex15 A T 8: 34,064,913 (GRCm39) N1448Y probably benign Het
Tktl2 T A 8: 66,965,858 (GRCm39) M472K possibly damaging Het
Tnrc6b T G 15: 80,764,448 (GRCm39) L650W probably damaging Het
Ttf2 C T 3: 100,855,580 (GRCm39) G872R possibly damaging Het
Vmn1r17 A G 6: 57,337,768 (GRCm39) V199A probably damaging Het
Vmn1r178 A G 7: 23,593,331 (GRCm39) I126M possibly damaging Het
Vmn2r85 T C 10: 130,261,081 (GRCm39) M419V probably benign Het
Washc2 A G 6: 116,204,454 (GRCm39) N454S probably benign Het
Xirp2 T G 2: 67,339,393 (GRCm39) F545V probably damaging Het
Zfyve26 G T 12: 79,312,457 (GRCm39) probably benign Het
Other mutations in Mmd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Mmd APN 11 90,155,360 (GRCm39) missense probably damaging 1.00
IGL01300:Mmd APN 11 90,140,537 (GRCm39) start codon destroyed probably null
IGL03412:Mmd APN 11 90,148,429 (GRCm39) critical splice donor site probably null
R0052:Mmd UTSW 11 90,150,824 (GRCm39) splice site probably benign
R0052:Mmd UTSW 11 90,150,824 (GRCm39) splice site probably benign
R1342:Mmd UTSW 11 90,167,676 (GRCm39) missense probably benign 0.03
R6969:Mmd UTSW 11 90,148,362 (GRCm39) missense probably damaging 1.00
R7079:Mmd UTSW 11 90,158,325 (GRCm39) splice site probably null
R7626:Mmd UTSW 11 90,148,378 (GRCm39) missense probably damaging 0.98
R7638:Mmd UTSW 11 90,167,583 (GRCm39) missense possibly damaging 0.80
R7734:Mmd UTSW 11 90,167,579 (GRCm39) missense probably damaging 1.00
R7838:Mmd UTSW 11 90,158,433 (GRCm39) missense probably benign 0.38
R9697:Mmd UTSW 11 90,167,579 (GRCm39) missense probably damaging 1.00
Z1177:Mmd UTSW 11 90,150,714 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- ACTTGCCAAAAGCCTCCTTG -3'
(R):5'- GCAATAGTGAATTCCAGATGGC -3'

Sequencing Primer
(F):5'- CAAAAGCCTCCTTGCTATGTTGAAGG -3'
(R):5'- GTGAATTCCAGATGGCATTAAAGAC -3'
Posted On 2015-02-05