Incidental Mutation 'IGL02964:Mmd2'
ID365482
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 #IGL02964
Quality Score
Status
Chromosome5
Chromosomal Location142562358-142608800 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 142569477 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 153 (F153L)
Ref Sequence ENSEMBL: ENSMUSP00000039357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037048]
Predicted Effect probably damaging
Transcript: ENSMUST00000037048
AA Change: F153L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039357
Gene: ENSMUSG00000039533
AA Change: F153L

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 T C 11: 94,351,810 I1364V possibly damaging Het
Adamts19 T A 18: 58,988,965 I813K probably damaging Het
Adamtsl1 G T 4: 86,424,357 C1703F probably damaging Het
Atp2b4 T A 1: 133,730,565 T536S probably damaging Het
Capg T A 6: 72,562,844 I340N probably damaging Het
Casc3 T A 11: 98,828,923 M567K probably damaging Het
Chmp1a T C 8: 123,208,067 E50G probably damaging Het
Cryba1 T C 11: 77,719,381 probably benign Het
Dnah8 T A 17: 30,746,761 Y2356N probably damaging Het
Ercc6 T G 14: 32,570,103 S1141R probably benign Het
Exd2 T A 12: 80,480,528 V165D probably damaging Het
Fbln1 A T 15: 85,231,462 E233V probably damaging Het
Ftsj3 T C 11: 106,252,337 K384E probably damaging Het
Ggt5 A G 10: 75,604,128 I188V probably benign Het
Gm42742 A T 7: 127,016,846 S26T probably damaging Het
Gucy1a2 T A 9: 3,759,542 D449E probably damaging Het
Igfbp7 C T 5: 77,351,341 S239N possibly damaging Het
Klf11 C T 12: 24,655,627 A360V probably damaging Het
Kmt2e T A 5: 23,467,100 probably benign Het
Magea8 A T X: 154,986,682 C144S probably damaging Het
Med4 A G 14: 73,517,921 Q223R probably damaging Het
Nav3 C A 10: 109,736,953 R1615L probably damaging Het
Nisch A G 14: 31,180,812 probably benign Het
Nr1i3 A T 1: 171,214,395 Y16F probably benign Het
Olfr1134 C A 2: 87,656,714 C69F probably damaging Het
Olfr828 A G 9: 18,815,728 C189R probably damaging Het
Olfr860 G A 9: 19,846,254 R122* probably null Het
Olfr954 A G 9: 39,461,781 T117A possibly damaging Het
Ppil6 C A 10: 41,507,483 H252N probably benign Het
Ppp6r2 C T 15: 89,259,175 P175L probably damaging Het
Psme4 T A 11: 30,791,095 Y90* probably null Het
Rbm20 C A 19: 53,813,702 L214I probably benign Het
Rhox2f T C X: 37,571,681 V24A probably benign Het
Scnm1 T C 3: 95,133,037 K96E probably benign Het
Sec16a A C 2: 26,419,723 D2090E probably benign Het
Smg6 T C 11: 74,930,750 probably null Het
Snx2 T C 18: 53,194,558 S119P probably benign Het
Stam A G 2: 14,115,968 probably benign Het
Sult2b1 T A 7: 45,735,274 E126V probably benign Het
Tor1aip1 T C 1: 156,035,844 E131G probably damaging Het
Ttn C T 2: 76,788,696 C14367Y probably damaging Het
Ubr4 T C 4: 139,407,820 F821S possibly damaging Het
Vmn1r32 T C 6: 66,552,938 N285D probably benign Het
Vmn2r23 T C 6: 123,741,782 L698P possibly damaging Het
Wnt8a T A 18: 34,542,421 L18Q possibly damaging Het
Zfp747 T C 7: 127,374,494 E168G 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
IGL02432:Mmd2 APN 5 142575339 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 On2015-12-18