Incidental Mutation 'IGL01369:Mmd2'
ID 76060
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mmd2
Ensembl Gene ENSMUSG00000039533
Gene Name monocyte to macrophage differentiation-associated 2
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01369
Quality Score
Status
Chromosome 5
Chromosomal Location 142549229-142594886 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 142560984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 84 (S84P)
Ref Sequence ENSEMBL: ENSMUSP00000039357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037048]
AlphaFold Q8R189
Predicted Effect probably damaging
Transcript: ENSMUST00000037048
AA Change: S84P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039357
Gene: ENSMUSG00000039533
AA Change: S84P

DomainStartEndE-ValueType
Pfam:HlyIII 33 228 5.2e-21 PFAM
Coding Region Coverage
Validation Efficiency
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 T C 4: 144,401,215 (GRCm39) T90A possibly damaging Het
Abi2 A G 1: 60,476,215 (GRCm39) T96A probably damaging Het
Adam34 T A 8: 44,104,094 (GRCm39) K517M probably benign Het
Atm A T 9: 53,426,617 (GRCm39) I547N probably benign Het
Cadm4 A T 7: 24,198,947 (GRCm39) D74V possibly damaging Het
Caprin1 G A 2: 103,599,210 (GRCm39) P46S probably damaging Het
Cbl A T 9: 44,112,358 (GRCm39) Y112* probably null Het
Ccdc180 T C 4: 45,900,256 (GRCm39) V246A probably benign Het
Chd1 A T 17: 15,975,259 (GRCm39) E1103V probably damaging Het
Clock G A 5: 76,384,933 (GRCm39) P428L probably benign Het
Cntn2 T A 1: 132,443,843 (GRCm39) I979F probably benign Het
Col2a1 A G 15: 97,875,707 (GRCm39) S1193P unknown Het
Fga A T 3: 82,937,507 (GRCm39) Y128F probably benign Het
Glyr1 A T 16: 4,838,152 (GRCm39) D365E probably benign Het
Gmppb G A 9: 107,928,446 (GRCm39) probably null Het
Gmps A T 3: 63,909,013 (GRCm39) H505L probably benign Het
Hexim2 A G 11: 103,029,464 (GRCm39) N172S probably benign Het
Hmgcr T C 13: 96,803,030 (GRCm39) E65G probably null Het
Hsd17b4 T C 18: 50,305,100 (GRCm39) S446P possibly damaging Het
Kirrel3 C T 9: 34,927,737 (GRCm39) T382I probably benign Het
Klra7 A T 6: 130,203,498 (GRCm39) Y169* probably null Het
Lmbrd1 T C 1: 24,745,055 (GRCm39) probably benign Het
Loxhd1 A G 18: 77,416,897 (GRCm39) E211G possibly damaging Het
Maf1 T A 15: 76,236,892 (GRCm39) F44I probably damaging Het
Morc2b T C 17: 33,357,139 (GRCm39) E211G probably benign Het
Mov10l1 T C 15: 88,909,040 (GRCm39) probably benign Het
Mycbp2 C A 14: 103,392,946 (GRCm39) C3205F possibly damaging Het
Myg1 G A 15: 102,242,773 (GRCm39) V155M probably benign Het
Ncam2 A G 16: 81,258,459 (GRCm39) N247S probably benign Het
Nek11 A G 9: 105,177,259 (GRCm39) probably null Het
Nt5dc3 T A 10: 86,656,139 (GRCm39) probably benign Het
Nudcd3 A G 11: 6,100,551 (GRCm39) Y134H probably damaging Het
Ogfod1 T C 8: 94,789,719 (GRCm39) probably null Het
Or5b99 A T 19: 12,977,125 (GRCm39) L258F possibly damaging Het
Orm2 T C 4: 63,281,215 (GRCm39) V51A probably benign Het
P2ry14 T C 3: 59,022,756 (GRCm39) I244V probably damaging Het
Poll A G 19: 45,542,115 (GRCm39) V397A probably damaging Het
Ppdpf C A 2: 180,829,687 (GRCm39) probably benign Het
Ptch1 T C 13: 63,659,495 (GRCm39) E1249G probably benign Het
Rdh16f1 C A 10: 127,595,844 (GRCm39) T13K probably benign Het
Rrp1 G A 10: 78,240,905 (GRCm39) probably benign Het
Sec14l2 A G 11: 4,053,432 (GRCm39) M346T probably benign Het
Sh2d2a A T 3: 87,759,136 (GRCm39) Q246L probably benign Het
Slc44a1 G A 4: 53,491,448 (GRCm39) D62N probably damaging Het
Snx22 A G 9: 65,976,060 (GRCm39) Y58H probably damaging Het
Spata31f1a T C 4: 42,852,548 (GRCm39) probably null Het
Ttn T A 2: 76,599,779 (GRCm39) D19104V probably damaging Het
Ugt2a3 T C 5: 87,474,979 (GRCm39) S422G probably damaging Het
Zfyve19 G T 2: 119,041,094 (GRCm39) probably benign Het
Other mutations in Mmd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6103:Mmd2 UTSW 5 142,553,618 (GRCm39) critical splice donor site probably null
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
Posted On 2013-10-07