Incidental Mutation 'R6304:Mup4'
ID509189
Institutional Source Beutler Lab
Gene Symbol Mup4
Ensembl Gene ENSMUSG00000041333
Gene Namemajor urinary protein 4
SynonymsMup-4
MMRRC Submission 044380-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #R6304 (G1)
Quality Score225.009
Status Not validated
Chromosome4
Chromosomal Location59956804-59960710 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 59960084 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 60 (H60R)
Ref Sequence ENSEMBL: ENSMUSP00000075356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075973] [ENSMUST00000107521]
PDB Structure
Major mouse urinary protein IV complexed with 2-sec-butyl-4,5-dihydrothiazole [X-RAY DIFFRACTION]
Major mouse urinary protein IV complexed with 2-heptanone [X-RAY DIFFRACTION]
Major mouse urinary protein IV complexed with 2-ethylhexanol [X-RAY DIFFRACTION]
Major mouse urinary protein IV complexed with 2,5-dimethylpyrazine [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000075973
AA Change: H60R

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000075356
Gene: ENSMUSG00000041333
AA Change: H60R

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Lipocalin 32 171 8.6e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107521
SMART Domains Protein: ENSMUSP00000103145
Gene: ENSMUSG00000078689

DomainStartEndE-ValueType
Pfam:Lipocalin 25 164 1.4e-35 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415D10Rik T A 10: 82,290,368 K2269N possibly damaging Het
5330417C22Rik A C 3: 108,461,256 C806W probably damaging Het
Apol9b T A 15: 77,735,304 V100E probably damaging Het
Bin3 A G 14: 70,137,176 D218G possibly damaging Het
Cbll1 A G 12: 31,494,589 probably null Het
Cped1 A T 6: 22,016,923 R90S probably benign Het
Csmd1 A T 8: 16,058,674 L1905Q probably damaging Het
Etaa1 A C 11: 17,947,505 M204R probably damaging Het
G6pc A G 11: 101,367,909 D38G probably damaging Het
Gramd4 A G 15: 86,134,919 E596G possibly damaging Het
Ifna5 T C 4: 88,835,910 V129A probably benign Het
Igsf9b C T 9: 27,342,575 R1354W probably benign Het
Kcnh3 T C 15: 99,227,038 V123A probably benign Het
Kcnh7 A T 2: 62,764,616 Y703* probably null Het
Kdm2b A G 5: 122,881,744 S260P probably benign Het
Kdm6b G T 11: 69,404,258 T1061K unknown Het
Lingo4 G A 3: 94,403,206 G484R probably damaging Het
Lpar1 T C 4: 58,487,013 Y86C probably damaging Het
Lrrc10b T C 19: 10,456,978 Q113R probably benign Het
Lrrc8c A T 5: 105,608,609 N750I probably benign Het
Miip T C 4: 147,863,083 M207V probably benign Het
Naip5 C T 13: 100,223,166 A521T possibly damaging Het
Nrp2 T C 1: 62,745,406 L238P probably damaging Het
Nup155 T C 15: 8,118,042 S262P probably damaging Het
Olfr639 G A 7: 104,012,031 L224F probably damaging Het
Osbpl3 A G 6: 50,312,674 S604P probably damaging Het
Pcdhb6 C T 18: 37,335,921 R632* probably null Het
Pcdhb9 T A 18: 37,401,367 V138E probably damaging Het
Pclo A T 5: 14,677,893 probably benign Het
Phyhipl A G 10: 70,559,557 probably null Het
Plcg1 A G 2: 160,761,463 T1185A possibly damaging Het
Pomt1 T A 2: 32,250,790 L478Q probably damaging Het
Robo2 T A 16: 73,958,308 Y779F probably damaging Het
Sesn3 A T 9: 14,322,561 probably null Het
Sh3gl1 A T 17: 56,036,431 F10Y probably benign Het
Soga1 T C 2: 157,040,764 N456S possibly damaging Het
Spsb1 C T 4: 149,906,731 V127I probably benign Het
Taf4b T C 18: 14,807,355 I297T probably damaging Het
Trim14 C A 4: 46,522,118 M186I probably benign Het
Ttn A T 2: 76,891,099 probably benign Het
Ttn G T 2: 76,915,735 probably benign Het
Usp54 T C 14: 20,560,968 D1260G possibly damaging Het
Vmn1r3 T A 4: 3,184,975 T111S probably damaging Het
Vmn2r51 T C 7: 10,098,237 Q474R probably benign Het
Wdr78 T C 4: 103,087,356 E266G probably benign Het
Other mutations in Mup4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01550:Mup4 APN 4 59960120 missense probably damaging 1.00
IGL02956:Mup4 APN 4 59959263 missense probably benign 0.08
IGL03017:Mup4 APN 4 59957890 missense probably damaging 0.99
IGL03139:Mup4 APN 4 59958482 splice site probably benign
IGL03282:Mup4 APN 4 59958547 missense possibly damaging 0.56
marine UTSW 4 59960622 unclassified probably benign
R1440:Mup4 UTSW 4 59958076 missense probably damaging 1.00
R1462:Mup4 UTSW 4 59960084 missense possibly damaging 0.91
R1462:Mup4 UTSW 4 59960084 missense possibly damaging 0.91
R1721:Mup4 UTSW 4 59960598 start codon destroyed probably null
R2067:Mup4 UTSW 4 59960622 unclassified probably benign
R2302:Mup4 UTSW 4 59960702 splice site probably null
R2403:Mup4 UTSW 4 59958145 missense probably damaging 0.98
R3431:Mup4 UTSW 4 59959192 splice site probably null
R4487:Mup4 UTSW 4 59960547 missense probably damaging 0.98
R5028:Mup4 UTSW 4 59958124 missense possibly damaging 0.69
R5208:Mup4 UTSW 4 59958119 missense probably damaging 1.00
R5430:Mup4 UTSW 4 59960044 missense probably damaging 0.98
R6255:Mup4 UTSW 4 59957890 missense probably damaging 0.99
R6745:Mup4 UTSW 4 59960091 missense possibly damaging 0.50
R7326:Mup4 UTSW 4 59960046 missense possibly damaging 0.95
R7606:Mup4 UTSW 4 59958568 missense probably damaging 1.00
X0026:Mup4 UTSW 4 59960559 missense possibly damaging 0.46
Predicted Primers PCR Primer
(F):5'- GGTTCTGTGTCACATGGAGC -3'
(R):5'- GTGTATGCTCAGACCCTAATGC -3'

Sequencing Primer
(F):5'- TGGATACAGACCCAGTATGTGTG -3'
(R):5'- CCTAATGCATAGGCTGGAGTTC -3'
Posted On2018-04-02