Incidental Mutation 'IGL02221:Mmd2'
ID285161
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mmd2
Ensembl Gene ENSMUSG00000039533
Gene Namemonocyte to macrophage differentiation-associated 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02221
Quality Score
Status
Chromosome5
Chromosomal Location142562358-142608800 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 142569457 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000039357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037048]
Predicted Effect probably benign
Transcript: ENSMUST00000037048
SMART Domains Protein: ENSMUSP00000039357
Gene: ENSMUSG00000039533

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik T C 6: 124,356,948 I24M probably benign Het
Ano5 G A 7: 51,570,323 D390N probably damaging Het
Atp2c2 A G 8: 119,744,334 Y407C probably damaging Het
B430306N03Rik T C 17: 48,324,195 probably benign Het
BC052040 T C 2: 115,639,066 probably null Het
Cd44 A T 2: 102,846,513 M269K probably benign Het
Cpped1 G T 16: 11,828,528 P144Q probably damaging Het
Epas1 C T 17: 86,827,847 T636M possibly damaging Het
Hsd17b3 G T 13: 64,089,051 H26Q probably benign Het
Ighv8-9 A G 12: 115,468,327 probably benign Het
Itih1 A T 14: 30,929,587 C883S probably damaging Het
Krt16 A T 11: 100,246,336 probably benign Het
Lcn3 A T 2: 25,766,160 M76L probably benign Het
Lin9 A T 1: 180,650,834 M53L probably benign Het
Mast1 A G 8: 84,918,755 V687A possibly damaging Het
Mroh2b T C 15: 4,923,641 L619S probably damaging Het
Ngef T C 1: 87,540,696 T114A probably benign Het
Nlrp12 T C 7: 3,240,967 D305G possibly damaging Het
Nlrp1a A T 11: 71,123,118 F435L possibly damaging Het
Nup188 A G 2: 30,330,641 I909V possibly damaging Het
Osbpl3 A C 6: 50,327,367 probably benign Het
P2ry2 G T 7: 100,998,114 P328H possibly damaging Het
Prex2 A T 1: 11,061,345 N46I probably benign Het
Prss42 T C 9: 110,803,175 F325L possibly damaging Het
Reep5 A G 18: 34,349,797 F120L probably damaging Het
Scg3 G T 9: 75,683,657 F23L probably damaging Het
Scx A G 15: 76,459,095 D200G probably benign Het
Setd5 C T 6: 113,121,170 probably benign Het
Tcf4 T A 18: 69,347,367 S23R probably damaging Het
Ttc4 A G 4: 106,676,596 probably null Het
Tyro3 T A 2: 119,812,590 C627S probably benign Het
Yipf2 T C 9: 21,591,468 N106S possibly damaging Het
Zfp619 T C 7: 39,536,910 L788P probably benign Het
Zfp831 G A 2: 174,643,726 V65I probably benign Het
Zgpat T C 2: 181,378,858 S275P probably benign Het
Other mutations in Mmd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01369:Mmd2 APN 5 142575229 missense probably damaging 1.00
IGL02432:Mmd2 APN 5 142575339 missense probably damaging 1.00
IGL02964:Mmd2 APN 5 142569477 missense probably damaging 1.00
IGL03333:Mmd2 APN 5 142567938 splice site probably benign
R0615:Mmd2 UTSW 5 142564913 missense probably benign 0.04
R1717:Mmd2 UTSW 5 142575350 splice site probably benign
R2034:Mmd2 UTSW 5 142575184 critical splice donor site probably null
R3981:Mmd2 UTSW 5 142564799 missense probably damaging 1.00
R3982:Mmd2 UTSW 5 142564799 missense probably damaging 1.00
R4501:Mmd2 UTSW 5 142575210 missense probably benign 0.00
R6103:Mmd2 UTSW 5 142567863 critical splice donor site probably null
R6521:Mmd2 UTSW 5 142574830 missense probably damaging 1.00
R7222:Mmd2 UTSW 5 142567927 missense probably benign 0.04
R7244:Mmd2 UTSW 5 142564832 missense probably damaging 1.00
R7579:Mmd2 UTSW 5 142608606 start codon destroyed probably null 0.02
R7997:Mmd2 UTSW 5 142574860 missense possibly damaging 0.67
X0024:Mmd2 UTSW 5 142575244 missense probably benign 0.05
Posted On2015-04-16