Incidental Mutation 'IGL02465:Mup20'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mup20
Ensembl Gene ENSMUSG00000078672
Gene Namemajor urinary protein 20
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.033) question?
Stock #IGL02465
Quality Score
Chromosomal Location62050234-62054158 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 62052000 bp
Amino Acid Change Asparagine to Aspartic acid at position 107 (N107D)
Ref Sequence ENSEMBL: ENSMUSP00000073667 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074018]
PDB Structure
Structural insights into the specificity of darcin, an atypical major urinary protein. [SOLUTION NMR]
Predicted Effect possibly damaging
Transcript: ENSMUST00000074018
AA Change: N107D

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000073667
Gene: ENSMUSG00000078672
AA Change: N107D

signal peptide 1 19 N/A INTRINSIC
Pfam:Lipocalin 35 174 2.5e-36 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy3 A G 12: 4,200,906 D555G probably benign Het
Anks1b T A 10: 90,163,265 C411* probably null Het
Atp5j A T 16: 84,828,470 Y82N probably damaging Het
Cd19 A T 7: 126,413,558 V221D possibly damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cyp4f13 A T 17: 32,929,136 probably null Het
Ddrgk1 T C 2: 130,654,709 D245G probably damaging Het
Eya2 A G 2: 165,715,952 D156G possibly damaging Het
Gm42763 T C 9: 110,545,297 probably benign Het
Gtdc1 T C 2: 44,570,423 Y417C probably damaging Het
Map1b T C 13: 99,433,406 T936A unknown Het
Med23 G A 10: 24,903,743 R906K probably damaging Het
Mill2 G A 7: 18,858,243 W263* probably null Het
Neb A G 2: 52,193,165 probably benign Het
Ntrk2 A G 13: 59,060,380 N680S probably damaging Het
Olfr102 A C 17: 37,313,911 S158A probably damaging Het
Olfr459 C T 6: 41,771,556 V248I probably damaging Het
Pde3a A G 6: 141,249,675 H29R possibly damaging Het
Pik3c3 T C 18: 30,344,060 I878T probably damaging Het
Plxnd1 A G 6: 115,955,742 *1926R probably null Het
Prl8a9 T A 13: 27,559,449 L124F probably damaging Het
Proser3 A T 7: 30,543,533 N206K possibly damaging Het
Rasef G T 4: 73,734,488 T439N probably damaging Het
Slc6a18 T C 13: 73,677,785 T49A probably benign Het
Spag17 A C 3: 100,075,871 T1496P probably damaging Het
Vmn1r63 A C 7: 5,803,039 V198G probably damaging Het
Vmn2r112 T C 17: 22,614,994 S548P probably damaging Het
Vps13a T C 19: 16,710,941 D834G probably benign Het
Vps8 A T 16: 21,521,903 N799I probably damaging Het
Zfhx4 A G 3: 5,399,603 H1632R possibly damaging Het
Zp1 T A 19: 10,920,487 E30V probably benign Het
Other mutations in Mup20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02604:Mup20 APN 4 62051904 missense probably damaging 0.98
R5207:Mup20 UTSW 4 62051586 splice site probably null
R6173:Mup20 UTSW 4 62054030 missense unknown
R8194:Mup20 UTSW 4 62053484 missense probably benign 0.01
R8364:Mup20 UTSW 4 62051531 missense probably damaging 0.96
Posted On2015-04-16