Incidental Mutation 'R7194:Mup12'
ID 559772
Institutional Source Beutler Lab
Gene Symbol Mup12
Ensembl Gene ENSMUSG00000094793
Gene Name major urinary protein 12
Synonyms Gm2024
MMRRC Submission 045335-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R7194 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 60693382-60697325 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 60696734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 48 (E48V)
Ref Sequence ENSEMBL: ENSMUSP00000112787 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117932]
AlphaFold P11588
PDB Structure Thermodynamics of Binding of 2-methoxy-3-isopropylpyrazine and 2-methoxy-3-isobutylpyrazine to the Major Urinary Protein [X-RAY DIFFRACTION]
Thermodynamics of Binding of 2-methoxy-3-isopropylpyrazine and 2-methoxy-3-isobutylpyrazine to the Major Urinary Protein [X-RAY DIFFRACTION]
Thermodynamics of Binding of 2-methoxy-3-isopropylpyrazine and 2-methoxy-3-isobutylpyrazine to the Major Urinary Protein [X-RAY DIFFRACTION]
Van der Waals Interactions Dominate Hydrophobic Association in a Protein Binding Site Occluded From Solvent Water [X-RAY DIFFRACTION]
Van der Waals Interactions Dominate Hydrophobic Association in a Protein Binding Site Occluded From Solvent Water [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000117932
AA Change: E48V

PolyPhen 2 Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112787
Gene: ENSMUSG00000094793
AA Change: E48V

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
Pfam:Lipocalin 34 173 6e-34 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (70/70)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat A G 8: 60,979,656 (GRCm39) I173V probably benign Het
Abi3bp C T 16: 56,382,734 (GRCm39) R115C probably damaging Het
Adam18 A G 8: 25,141,868 (GRCm39) S234P possibly damaging Het
Adam20 A G 8: 41,249,449 (GRCm39) R520G probably benign Het
Angel2 C G 1: 190,677,194 (GRCm39) T514R probably damaging Het
Ankar A T 1: 72,698,192 (GRCm39) I954N probably benign Het
Ankrd7 A T 6: 18,879,342 (GRCm39) Y262F probably benign Het
Ano8 C A 8: 71,935,007 (GRCm39) L398F possibly damaging Het
App C T 16: 84,822,319 (GRCm39) V356I probably benign Het
Atp1a2 C A 1: 172,108,194 (GRCm39) E636* probably null Het
Cckbr G A 7: 105,084,552 (GRCm39) E429K possibly damaging Het
Cfi T G 3: 129,648,708 (GRCm39) S197R probably damaging Het
Chn2 A G 6: 54,263,162 (GRCm39) probably null Het
Col3a1 C A 1: 45,370,860 (GRCm39) A405D unknown Het
Colec12 A T 18: 9,848,248 (GRCm39) N142I probably benign Het
Copa T C 1: 171,947,511 (GRCm39) L1109P probably damaging Het
Cpeb3 T A 19: 37,152,152 (GRCm39) M75L probably benign Het
Cyp2d11 T C 15: 82,275,969 (GRCm39) Y204C probably benign Het
Defa17 A G 8: 22,146,613 (GRCm39) T80A probably benign Het
Dnaaf9 C A 2: 130,648,708 (GRCm39) R258L unknown Het
Dppa5a C T 9: 78,275,002 (GRCm39) probably null Het
Fat4 G T 3: 38,943,033 (GRCm39) S642I probably damaging Het
Fat4 T A 3: 39,038,044 (GRCm39) C3899S probably damaging Het
Fn1 A G 1: 71,641,482 (GRCm39) V1869A probably damaging Het
Gm10308 A T 17: 91,396,389 (GRCm39) I104L unknown Het
Gpr139 C T 7: 118,743,896 (GRCm39) A230T possibly damaging Het
Grm8 T C 6: 27,618,486 (GRCm39) N452S probably benign Het
Hmox1 T C 8: 75,823,551 (GRCm39) V73A probably benign Het
Hspa4 A G 11: 53,156,765 (GRCm39) F641L probably damaging Het
Ifi207 T G 1: 173,557,490 (GRCm39) H416P possibly damaging Het
Igkv10-96 G T 6: 68,609,028 (GRCm39) T89K possibly damaging Het
Kmt2d A C 15: 98,741,714 (GRCm39) V4482G unknown Het
Krt28 T A 11: 99,265,230 (GRCm39) K146* probably null Het
Krt82 T C 15: 101,451,191 (GRCm39) N406S probably damaging Het
Marveld3 A T 8: 110,686,477 (GRCm39) probably null Het
Mllt6 C T 11: 97,564,394 (GRCm39) S370L probably benign Het
Muc16 A G 9: 18,585,750 (GRCm39) L26S unknown Het
Myh1 G A 11: 67,102,183 (GRCm39) V825I probably benign Het
Nipal3 G A 4: 135,201,732 (GRCm39) T152I probably benign Het
Nrg3 A T 14: 39,194,435 (GRCm39) M108K probably benign Het
Nup50l T G 6: 96,141,756 (GRCm39) E429D probably benign Het
Oog3 A T 4: 143,889,169 (GRCm39) I3N probably damaging Het
Or10d4c G A 9: 39,558,387 (GRCm39) V122I probably benign Het
Pira13 A G 7: 3,827,792 (GRCm39) W122R Het
Pkhd1l1 T C 15: 44,392,512 (GRCm39) C1616R probably damaging Het
Ppa2 T A 3: 133,053,953 (GRCm39) probably null Het
Ppfibp2 T A 7: 107,322,187 (GRCm39) probably null Het
Ppp4c T C 7: 126,385,653 (GRCm39) N229D probably damaging Het
Ptpn9 T C 9: 56,929,570 (GRCm39) F96L probably damaging Het
Pygl A G 12: 70,241,094 (GRCm39) V742A probably benign Het
Ranbp2 A G 10: 58,312,591 (GRCm39) T1104A probably benign Het
Rasal1 G A 5: 120,813,557 (GRCm39) A644T probably benign Het
Rcor3 T A 1: 191,810,261 (GRCm39) T139S possibly damaging Het
Rfx5 T A 3: 94,862,454 (GRCm39) I37N probably damaging Het
Rnf112 C T 11: 61,341,683 (GRCm39) G374R probably damaging Het
Rrp12 T C 19: 41,859,979 (GRCm39) I1034V probably benign Het
Sacs T A 14: 61,447,538 (GRCm39) Y3195N possibly damaging Het
Scn4a A G 11: 106,215,062 (GRCm39) I1243T probably benign Het
Sirt7 A T 11: 120,509,799 (GRCm39) C362S probably benign Het
Slc17a6 T A 7: 51,276,640 (GRCm39) S130T probably damaging Het
Snrnp48 A C 13: 38,393,875 (GRCm39) Y60S probably damaging Het
Syne1 T C 10: 5,060,859 (GRCm39) E7260G probably damaging Het
Trbv15 C T 6: 41,118,529 (GRCm39) T95I probably benign Het
Trip12 A T 1: 84,771,943 (GRCm39) N68K probably benign Het
Ugcg A G 4: 59,213,210 (GRCm39) Y132C probably damaging Het
Usp9y A T Y: 1,304,672 (GRCm39) C2391S probably damaging Het
Vmn1r103 C A 7: 20,244,438 (GRCm39) V8L probably benign Het
Vmn2r15 T A 5: 109,440,649 (GRCm39) N403I probably damaging Het
Zbtb11 T C 16: 55,827,551 (GRCm39) S1006P probably damaging Het
Other mutations in Mup12
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6366:Mup12 UTSW 4 60,696,657 (GRCm39) missense probably damaging 0.98
R6676:Mup12 UTSW 4 60,696,642 (GRCm39) splice site probably null
R6687:Mup12 UTSW 4 60,697,308 (GRCm39) start gained probably benign
R9057:Mup12 UTSW 4 60,696,779 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCGTTCTGGTTTAGGATACAG -3'
(R):5'- AACTGGCATGAGTTCTACCCC -3'

Sequencing Primer
(F):5'- CAAATGTACATACTGAGAGGCATC -3'
(R):5'- GCATGAGTTCTACCCCTGTGTATG -3'
Posted On 2019-06-26