Incidental Mutation 'R6103:Mmd2'
ID 485372
Institutional Source Beutler Lab
Gene Symbol Mmd2
Ensembl Gene ENSMUSG00000039533
Gene Name monocyte to macrophage differentiation-associated 2
MMRRC Submission 044253-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6103 (G1)
Quality Score 151.008
Status Validated
Chromosome 5
Chromosomal Location 142549229-142594886 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 142553618 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000039357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037048]
AlphaFold Q8R189
Predicted Effect probably null
Transcript: ENSMUST00000037048
SMART Domains Protein: ENSMUSP00000039357
Gene: ENSMUSG00000039533

Pfam:HlyIII 33 228 5.2e-21 PFAM
Meta Mutation Damage Score 0.9489 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 95.0%
Validation Efficiency 100% (55/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PAQR (progestin and adipoQ receptor) family. Members of this family are evolutionarily conserved with significant sequence identity to bacterial hemolysin-like proteins and are defined by a set of seven transmembrane domains. The protein encoded by this gene localizes to the Golgi apparatus to modulate Ras signaling. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A G 7: 45,768,445 (GRCm39) S926P possibly damaging Het
Acacb T A 5: 114,383,942 (GRCm39) M2157K probably damaging Het
Aco2 T C 15: 81,797,452 (GRCm39) V636A probably benign Het
Adgrf3 T C 5: 30,401,265 (GRCm39) Y51C probably damaging Het
Adprhl1 T C 8: 13,272,055 (GRCm39) T1568A possibly damaging Het
Ank1 T A 8: 23,603,999 (GRCm39) S937T probably damaging Het
Ankrd50 T C 3: 38,508,578 (GRCm39) E340G probably damaging Het
Avpr1b C T 1: 131,537,155 (GRCm39) P90S probably damaging Het
Cacna2d3 T C 14: 29,118,446 (GRCm39) H159R probably damaging Het
Carmil3 A T 14: 55,742,884 (GRCm39) T1185S probably benign Het
Casp2 A T 6: 42,256,814 (GRCm39) R357S probably damaging Het
Ccdc34 A G 2: 109,848,352 (GRCm39) D47G probably benign Het
Cd109 A G 9: 78,605,596 (GRCm39) probably null Het
Cd209d T C 8: 3,928,304 (GRCm39) Y27C probably damaging Het
Cep350 T A 1: 155,800,322 (GRCm39) D1176V probably benign Het
Cpd A T 11: 76,690,625 (GRCm39) S844T probably benign Het
Cyp4x1 A G 4: 114,968,864 (GRCm39) L380P probably damaging Het
Dscam A G 16: 96,626,781 (GRCm39) V376A probably benign Het
Enam T A 5: 88,650,187 (GRCm39) N565K probably damaging Het
Fam110c G A 12: 31,124,794 (GRCm39) W252* probably null Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Fgb T C 3: 82,951,170 (GRCm39) D281G probably benign Het
Frem2 T A 3: 53,457,209 (GRCm39) T2048S probably benign Het
Fut8 A T 12: 77,378,721 (GRCm39) probably benign Het
Glmp T C 3: 88,235,338 (GRCm39) S238P probably benign Het
Gm35315 T A 5: 110,226,137 (GRCm39) Y434F probably damaging Het
Gnpnat1 A G 14: 45,620,856 (GRCm39) F71S probably damaging Het
Gpnmb A G 6: 49,019,820 (GRCm39) R64G possibly damaging Het
Grxcr1 T C 5: 68,323,547 (GRCm39) F275S possibly damaging Het
Ift140 T A 17: 25,312,100 (GRCm39) C1314S probably damaging Het
Kif9 T C 9: 110,318,917 (GRCm39) I127T possibly damaging Het
Ms4a3 A T 19: 11,616,582 (GRCm39) V20D possibly damaging Het
Mtres1 A T 10: 43,408,916 (GRCm39) Y76N probably benign Het
Myh7b A G 2: 155,460,663 (GRCm39) E272G probably damaging Het
Naaladl1 G A 19: 6,158,743 (GRCm39) G292S probably damaging Het
Notch2 T A 3: 98,043,059 (GRCm39) Y1475N possibly damaging Het
Obp2a G A 2: 25,590,163 (GRCm39) E21K probably damaging Het
Or5ar1 A G 2: 85,671,776 (GRCm39) Y120H probably damaging Het
Osbpl10 T A 9: 114,890,940 (GRCm39) Y109* probably null Het
Plcd1 A T 9: 118,901,109 (GRCm39) W749R probably benign Het
Ptpro A G 6: 137,377,704 (GRCm39) E718G possibly damaging Het
Rbm4 C T 19: 4,837,947 (GRCm39) R295H probably damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Setdb2 T C 14: 59,646,981 (GRCm39) probably null Het
Slc25a18 C A 6: 120,766,399 (GRCm39) L131I probably damaging Het
Slc4a10 A G 2: 62,064,809 (GRCm39) H221R probably damaging Het
Tbc1d32 A T 10: 56,026,979 (GRCm39) W757R probably damaging Het
Tmem183a C A 1: 134,275,884 (GRCm39) V331L probably benign Het
Try10 C A 6: 41,333,484 (GRCm39) H76Q probably damaging Het
Ttn T A 2: 76,748,599 (GRCm39) H4150L probably benign Het
Vmn2r52 G A 7: 9,905,327 (GRCm39) P171S probably benign Het
Vmn2r88 A G 14: 51,652,826 (GRCm39) T450A probably benign Het
Yipf7 A T 5: 69,698,405 (GRCm39) V34D probably benign Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zg16 A G 7: 126,649,748 (GRCm39) V71A probably benign Het
Other mutations in Mmd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01369:Mmd2 APN 5 142,560,984 (GRCm39) missense probably damaging 1.00
IGL02221:Mmd2 APN 5 142,555,212 (GRCm39) splice site probably benign
IGL02432:Mmd2 APN 5 142,561,094 (GRCm39) missense probably damaging 1.00
IGL02964:Mmd2 APN 5 142,555,232 (GRCm39) missense probably damaging 1.00
IGL03333:Mmd2 APN 5 142,553,693 (GRCm39) splice site probably benign
R0615:Mmd2 UTSW 5 142,550,668 (GRCm39) missense probably benign 0.04
R1717:Mmd2 UTSW 5 142,561,105 (GRCm39) splice site probably benign
R2034:Mmd2 UTSW 5 142,560,939 (GRCm39) critical splice donor site probably null
R3981:Mmd2 UTSW 5 142,550,554 (GRCm39) missense probably damaging 1.00
R3982:Mmd2 UTSW 5 142,550,554 (GRCm39) missense probably damaging 1.00
R4501:Mmd2 UTSW 5 142,560,965 (GRCm39) missense probably benign 0.00
R6521:Mmd2 UTSW 5 142,560,585 (GRCm39) missense probably damaging 1.00
R7222:Mmd2 UTSW 5 142,553,682 (GRCm39) missense probably benign 0.04
R7244:Mmd2 UTSW 5 142,550,587 (GRCm39) missense probably damaging 1.00
R7579:Mmd2 UTSW 5 142,594,361 (GRCm39) start codon destroyed probably null 0.02
R7997:Mmd2 UTSW 5 142,560,615 (GRCm39) missense possibly damaging 0.67
R9188:Mmd2 UTSW 5 142,560,957 (GRCm39) missense probably damaging 0.99
R9223:Mmd2 UTSW 5 142,553,666 (GRCm39) missense probably damaging 1.00
R9394:Mmd2 UTSW 5 142,555,239 (GRCm39) missense probably damaging 1.00
X0024:Mmd2 UTSW 5 142,560,999 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2017-08-16