Incidental Mutation 'R6420:Mup1'
ID 518144
Institutional Source Beutler Lab
Gene Symbol Mup1
Ensembl Gene ENSMUSG00000078683
Gene Name major urinary protein 1
Synonyms Mup-a, Mup-1, Ltn-1, Lvtn-1, Up-1
MMRRC Submission 044562-MU
Accession Numbers
Essential gene? Not available question?
Stock # R6420 (G1)
Quality Score 134.008
Status Not validated
Chromosome 4
Chromosomal Location 60454011-60457959 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 60457758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glutamine at position 31 (E31Q)
Ref Sequence ENSEMBL: ENSMUSP00000081596 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084548] [ENSMUST00000103012] [ENSMUST00000107499] [ENSMUST00000135953]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000084548
AA Change: E31Q

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000081596
Gene: ENSMUSG00000078683
AA Change: E31Q

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
Pfam:Lipocalin 34 173 1.6e-33 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000103012
AA Change: E31Q

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000100077
Gene: ENSMUSG00000078683
AA Change: E31Q

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
Pfam:Lipocalin 34 173 5.7e-34 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107499
AA Change: E31Q

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103123
Gene: ENSMUSG00000078683
AA Change: E31Q

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
Pfam:Lipocalin 34 173 5.7e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135953
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156693
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency 100% (38/38)
MGI Phenotype PHENOTYPE: Three haplotypes for the Mup1 complex are known: the a haplotype in BALB/c, DBA/2 and C57BR/cd; b haplotype in C57BL/6, C57L and C58; and c (null) haplotype in BALB/cJPt. Female electrophoretic pattern differs from male in some strains, but converts to the male pattern with androgen treatment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A T 17: 48,473,566 (GRCm39) I117N probably damaging Het
Abca15 A G 7: 119,996,351 (GRCm39) K1426E possibly damaging Het
Arhgef17 A G 7: 100,579,269 (GRCm39) S560P probably damaging Het
Asb13 G A 13: 3,693,574 (GRCm39) V111I probably damaging Het
Dhx16 A G 17: 36,193,906 (GRCm39) E367G possibly damaging Het
Epc2 T C 2: 49,341,912 (GRCm39) V32A probably damaging Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Hdlbp T C 1: 93,358,726 (GRCm39) E275G probably damaging Het
Kdm7a T C 6: 39,142,102 (GRCm39) D392G probably damaging Het
Lgmn T A 12: 102,389,978 (GRCm39) R4* probably null Het
Lrrk2 C T 15: 91,696,549 (GRCm39) R2446C probably benign Het
Map3k10 A G 7: 27,362,709 (GRCm39) F459S probably damaging Het
Nckap1l G C 15: 103,399,893 (GRCm39) G1025A possibly damaging Het
Or4d10 T G 19: 12,051,324 (GRCm39) K224T probably benign Het
Or5b24 A C 19: 12,912,584 (GRCm39) T161P probably damaging Het
Or8b39 T A 9: 37,996,890 (GRCm39) S253T probably benign Het
Or8b41 T G 9: 38,054,611 (GRCm39) L55R probably damaging Het
Or8k38 A T 2: 86,488,510 (GRCm39) C97* probably null Het
Pik3r5 G A 11: 68,366,250 (GRCm39) W42* probably null Het
Pkd1l2 C T 8: 117,740,638 (GRCm39) C2153Y probably damaging Het
Rad1 T C 15: 10,488,098 (GRCm39) V74A probably benign Het
Scara3 C T 14: 66,175,701 (GRCm39) G22D possibly damaging Het
Scn1a A G 2: 66,103,542 (GRCm39) I1906T probably damaging Het
Sema5b T A 16: 35,483,516 (GRCm39) D1051E probably benign Het
Slc16a12 T C 19: 34,650,097 (GRCm39) probably null Het
Slc25a23 T C 17: 57,359,780 (GRCm39) I324V probably damaging Het
Sord A T 2: 122,094,602 (GRCm39) K330M possibly damaging Het
Spag9 T C 11: 93,977,128 (GRCm39) V78A probably damaging Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Tnrc6a A G 7: 122,770,297 (GRCm39) T696A probably benign Het
Ttn A G 2: 76,542,619 (GRCm39) Y33456H possibly damaging Het
Unc45a C G 7: 79,989,400 (GRCm39) E23Q probably benign Het
Urb2 C T 8: 124,773,938 (GRCm39) R1490W probably damaging Het
Zfp62 A T 11: 49,107,340 (GRCm39) N477I probably damaging Het
Zfp846 T C 9: 20,505,007 (GRCm39) L289P probably damaging Het
Zfp959 G A 17: 56,205,094 (GRCm39) G377D probably damaging Het
Zswim3 G A 2: 164,662,653 (GRCm39) V378M probably damaging Het
Other mutations in Mup1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03373:Mup1 APN 4 60,457,849 (GRCm39) unclassified probably benign
R9500:Mup1 UTSW 4 60,456,488 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TCAGTGAGACTAGAGGTCCC -3'
(R):5'- TCCACAAAGCCTGACAGAGG -3'

Sequencing Primer
(F):5'- GGTCCCCCAACATTGTCAGTAATG -3'
(R):5'- CCACTGAACCCAGAGAGTATATAAG -3'
Posted On 2018-05-24