Incidental Mutation 'R7626:Mmd'
ID 589461
Institutional Source Beutler Lab
Gene Symbol Mmd
Ensembl Gene ENSMUSG00000003948
Gene Name monocyte to macrophage differentiation-associated
Synonyms 1200017E07Rik, Paqr11, 1810073C06Rik
MMRRC Submission 045690-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R7626 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 90140282-90169415 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 90148378 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 20 (R20L)
Ref Sequence ENSEMBL: ENSMUSP00000004050 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004050] [ENSMUST00000107887]
AlphaFold Q9CQY7
Predicted Effect probably damaging
Transcript: ENSMUST00000004050
AA Change: R20L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000004050
Gene: ENSMUSG00000003948
AA Change: R20L

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: R20L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103519
Gene: ENSMUSG00000003948
AA Change: R20L

DomainStartEndE-ValueType
low complexity region 1 14 N/A INTRINSIC
Pfam:HlyIII 23 179 8.8e-35 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (56/56)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta2 G A 19: 34,229,931 (GRCm39) T8I probably benign Het
Alox5 T C 6: 116,390,756 (GRCm39) D465G possibly damaging Het
Arhgef16 T A 4: 154,367,339 (GRCm39) K355N possibly damaging Het
Camkk2 T A 5: 122,902,363 (GRCm39) probably benign Het
Ccdc171 C T 4: 83,499,012 (GRCm39) Q237* probably null Het
Ces2b T C 8: 105,564,017 (GRCm39) Y464H possibly damaging Het
Cntfr A G 4: 41,662,013 (GRCm39) F243S possibly damaging Het
Crip3 A T 17: 46,740,791 (GRCm39) R65S probably benign Het
Dcn A G 10: 97,319,340 (GRCm39) Y39C possibly damaging Het
Degs2 T C 12: 108,658,332 (GRCm39) S216G possibly damaging Het
Dmxl1 A G 18: 50,035,861 (GRCm39) I2295V probably benign Het
Dnah2 A G 11: 69,389,511 (GRCm39) S794P probably damaging Het
Eri1 A C 8: 35,941,554 (GRCm39) Y264* probably null Het
Etl4 T C 2: 20,718,189 (GRCm39) L179P probably damaging Het
F5 T G 1: 164,014,481 (GRCm39) M584R possibly damaging Het
Fam98c G T 7: 28,852,248 (GRCm39) R104S probably damaging Het
Flad1 A T 3: 89,310,718 (GRCm39) I443N probably benign Het
Hbp1 T C 12: 31,993,899 (GRCm39) E43G probably benign Het
Hivep3 CGG CG 4: 119,955,108 (GRCm39) 1141 probably null Het
Kcnj3 T A 2: 55,484,833 (GRCm39) C310* probably null Het
Lct T C 1: 128,212,932 (GRCm39) Y1907C probably damaging Het
Loxhd1 T C 18: 77,518,882 (GRCm39) V1896A possibly damaging Het
Lrfn4 C A 19: 4,663,679 (GRCm39) R285L probably damaging Het
Ltb4r2 T A 14: 56,000,338 (GRCm39) S320T probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Nbas T C 12: 13,608,661 (GRCm39) S2146P probably benign Het
Nop14 A G 5: 34,809,135 (GRCm39) F319L probably damaging Het
Numa1 C A 7: 101,648,630 (GRCm39) T787K probably benign Het
Or10q12 T G 19: 13,745,709 (GRCm39) M1R probably null Het
Or2t46 A C 11: 58,471,999 (GRCm39) T110P probably damaging Het
Or6c208 T G 10: 129,223,726 (GRCm39) C75G possibly damaging Het
Patj T C 4: 98,435,224 (GRCm39) V2A probably benign Het
Pisd T C 5: 32,898,032 (GRCm39) H52R probably benign Het
Plekhg6 A T 6: 125,340,631 (GRCm39) D576E probably benign Het
Plekhn1 T A 4: 156,310,110 (GRCm39) H68L probably benign Het
Ppp1r37 T A 7: 19,295,778 (GRCm39) I60F probably damaging Het
Ppp2r1b C T 9: 50,789,476 (GRCm39) T513M possibly damaging Het
Pramel32 A T 4: 88,548,279 (GRCm39) I42N probably damaging Het
Rhobtb2 C A 14: 70,034,386 (GRCm39) A280S probably damaging Het
Rnf40 A G 7: 127,189,047 (GRCm39) D140G probably benign Het
Rxfp1 A G 3: 79,555,397 (GRCm39) L653P probably damaging Het
Satb1 A T 17: 52,074,995 (GRCm39) D500E probably benign Het
Slc15a1 A T 14: 121,713,377 (GRCm39) D383E probably benign Het
Smarcad1 C A 6: 65,073,033 (GRCm39) S604R possibly damaging Het
St7 A G 6: 17,934,216 (GRCm39) T533A probably damaging Het
Sv2c T A 13: 96,122,451 (GRCm39) T442S probably benign Het
Tbx2 A G 11: 85,731,622 (GRCm39) T640A probably benign Het
Tenm4 T A 7: 96,542,221 (GRCm39) N1948K probably damaging Het
Tll1 T C 8: 64,551,268 (GRCm39) probably null Het
Tmem135 A T 7: 88,805,718 (GRCm39) probably null Het
Tonsl A T 15: 76,518,136 (GRCm39) L582Q probably null Het
Unc13c T A 9: 73,641,799 (GRCm39) K1231N probably damaging Het
Vmn2r101 T A 17: 19,832,192 (GRCm39) Y729* probably null Het
Zcchc2 A G 1: 105,928,742 (GRCm39) T334A possibly damaging Het
Zfp655 T C 5: 145,173,917 (GRCm39) L136P probably damaging Het
Zfp729a A T 13: 67,768,437 (GRCm39) C597* probably null 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
R3084:Mmd UTSW 11 90,156,911 (GRCm39) missense probably damaging 1.00
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
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'- CGAGCAAACTCAAAGGCTGTTTC -3'
(R):5'- CACTTAAGGTCACCAGGCTG -3'

Sequencing Primer
(F):5'- ATTCAGTGCTGCTGGCCAAG -3'
(R):5'- CAGGCTGAGTAGTTCCAACAACTTG -3'
Posted On 2019-10-24