Incidental Mutation 'IGL02432:Mmd2'
ID293165
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 #IGL02432
Quality Score
Status
Chromosome5
Chromosomal Location142562358-142608800 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 142575339 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 47 (I47N)
Ref Sequence ENSEMBL: ENSMUSP00000039357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037048]
Predicted Effect probably damaging
Transcript: ENSMUST00000037048
AA Change: I47N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039357
Gene: ENSMUSG00000039533
AA Change: I47N

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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik G A 2: 151,472,561 T399M probably benign Het
A830018L16Rik A T 1: 11,748,079 N321I probably damaging Het
Aimp1 T C 3: 132,673,977 T135A probably benign Het
Ascc3 T C 10: 50,700,493 M848T probably damaging Het
Cry2 T C 2: 92,413,667 D387G probably damaging Het
Daxx G A 17: 33,912,337 D413N probably benign Het
Gbp6 A T 5: 105,274,362 V492E probably benign Het
Itpr2 T A 6: 146,325,173 M1358L probably benign Het
Med13l T A 5: 118,738,400 D880E possibly damaging Het
Mroh2b G A 15: 4,914,186 M401I probably benign Het
Nrip1 T C 16: 76,291,780 K963R probably benign Het
Otop2 A G 11: 115,329,162 H276R probably damaging Het
Pxn T A 5: 115,545,746 D79E probably damaging Het
Rho G A 6: 115,932,185 V61I probably damaging Het
Rtp1 A G 16: 23,431,404 Y173C probably damaging Het
Slc6a17 T C 3: 107,493,177 D212G possibly damaging Het
Stpg1 A G 4: 135,508,010 E54G probably damaging Het
Tas2r119 A G 15: 32,177,707 T140A probably benign Het
Traf3ip3 C T 1: 193,184,576 C316Y probably damaging Het
Ttc28 G A 5: 111,223,235 A517T probably damaging Het
Vmn1r30 T C 6: 58,435,670 N59S probably benign Het
Vmn2r4 C T 3: 64,406,400 V387M probably benign Het
Other mutations in Mmd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01369:Mmd2 APN 5 142575229 missense probably damaging 1.00
IGL02221:Mmd2 APN 5 142569457 splice site probably benign
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