Mutagenetix > Incidental Mutation

Incidental Mutation 'R2384:Mup5'

247633

Institutional Source

Beutler Lab

Gene Symbol

Mup5

Ensembl Gene

ENSMUSG00000058523

Gene Name

major urinary protein 5

Synonyms

Mup V

MMRRC Submission

040358-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

R2384 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

61749556-61753417 bp(-) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to A at 61753261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000080908 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082287]

AlphaFold

P11591

Predicted Effect

probably null
Transcript: ENSMUST00000082287

SMART Domains

Protein: ENSMUSP00000080908
Gene: ENSMUSG00000058523

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Lipocalin	34	173	8.3e-38	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 92.5%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
4933414I15Rik	A	G	11: 50,833,333 (GRCm39)	S90P	unknown	Het
Abca13	T	C	11: 9,217,450 (GRCm39)		probably benign	Het
Chpf	C	T	1: 75,451,753 (GRCm39)	R567H	probably benign	Het
Cnp	A	G	11: 100,467,279 (GRCm39)	Y74C	probably damaging	Het
Cul3	A	T	1: 80,261,406 (GRCm39)	V273D	probably damaging	Het
Dnmt3a	A	G	12: 3,951,591 (GRCm39)	Y656C	probably damaging	Het
Erich3	A	T	3: 154,470,288 (GRCm39)	E107V	possibly damaging	Het
Fscn2	T	C	11: 120,257,559 (GRCm39)	S307P	possibly damaging	Het
Grm5	A	G	7: 87,251,936 (GRCm39)	E62G	probably damaging	Het
Hdac4	T	C	1: 91,912,207 (GRCm39)	Y394C	probably benign	Het
Hipk2	A	G	6: 38,795,306 (GRCm39)	I314T	probably damaging	Het
Hsd17b12	T	A	2: 93,863,964 (GRCm39)	I293L	probably benign	Het
Il36g	A	G	2: 24,082,660 (GRCm39)	H145R	probably benign	Het
Ints12	T	A	3: 132,814,864 (GRCm39)		probably null	Het
Khdrbs2	T	C	1: 32,558,976 (GRCm39)	S369G	probably damaging	Het
Klrh1	T	A	6: 129,749,343 (GRCm39)	H84L	probably benign	Het
Nlrp4g	A	G	9: 124,349,707 (GRCm38)		noncoding transcript	Het
Obscn	A	G	11: 58,933,663 (GRCm39)		probably null	Het
Ogdh	C	A	11: 6,292,526 (GRCm39)	A413D	probably damaging	Het
Podn	T	C	4: 107,879,269 (GRCm39)	E283G	probably damaging	Het
Ripk1	A	G	13: 34,214,026 (GRCm39)	D456G	probably benign	Het
Saxo4	A	C	19: 10,458,646 (GRCm39)		probably null	Het
Scg3	T	C	9: 75,573,008 (GRCm39)	T308A	probably damaging	Het
Sele	A	G	1: 163,878,344 (GRCm39)	T228A	probably benign	Het
Slc41a3	A	G	6: 90,603,393 (GRCm39)	E138G	probably damaging	Het
Tmem161a	T	C	8: 70,630,204 (GRCm39)	V104A	probably benign	Het
Tmem232	G	A	17: 65,709,852 (GRCm39)	R479W	probably damaging	Het
Trim26	C	T	17: 37,161,781 (GRCm39)	P67S	probably damaging	Het
Trpm8	A	G	1: 88,287,378 (GRCm39)	Y787C	probably benign	Het
Ttc28	T	A	5: 111,424,074 (GRCm39)	V1447D	possibly damaging	Het
Uaca	G	A	9: 60,777,199 (GRCm39)	A527T	probably damaging	Het
Ucp2	A	G	7: 100,147,461 (GRCm39)	I172V	probably benign	Het
Zzef1	T	A	11: 72,749,220 (GRCm39)	Y903N	probably damaging	Het

Other mutations in Mup5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0167:Mup5	UTSW	4	61,752,019 (GRCm39)	critical splice acceptor site	probably null
R0485:Mup5	UTSW	4	61,751,229 (GRCm39)	splice site	probably null
R0547:Mup5	UTSW	4	61,751,237 (GRCm39)	missense	probably damaging	1.00
R1054:Mup5	UTSW	4	61,750,871 (GRCm39)	missense	probably benign	0.07
R1597:Mup5	UTSW	4	61,753,317 (GRCm39)	missense	possibly damaging	0.87
R1721:Mup5	UTSW	4	61,750,607 (GRCm39)	nonsense	probably null
R1772:Mup5	UTSW	4	61,750,578 (GRCm39)	critical splice donor site	probably null
R1881:Mup5	UTSW	4	61,752,868 (GRCm39)	nonsense	probably null
R2104:Mup5	UTSW	4	61,751,962 (GRCm39)	missense	probably damaging	0.99
R4971:Mup5	UTSW	4	61,751,297 (GRCm39)	missense	probably benign	0.32
R5246:Mup5	UTSW	4	61,752,874 (GRCm39)	missense	probably benign	0.04
R5926:Mup5	UTSW	4	61,751,286 (GRCm39)	missense	probably benign	0.03
R6905:Mup5	UTSW	4	61,751,340 (GRCm39)	missense	possibly damaging	0.60
R6912:Mup5	UTSW	4	61,752,806 (GRCm39)	missense	probably benign	0.03
R6957:Mup5	UTSW	4	61,751,273 (GRCm39)	missense	probably damaging	1.00
R7204:Mup5	UTSW	4	61,751,992 (GRCm39)	missense	probably damaging	0.96
R7224:Mup5	UTSW	4	61,750,622 (GRCm39)	missense	probably damaging	1.00
R7244:Mup5	UTSW	4	61,749,818 (GRCm39)	splice site	probably null
R7570:Mup5	UTSW	4	61,752,911 (GRCm39)	nonsense	probably null
R8253:Mup5	UTSW	4	61,752,811 (GRCm39)	missense	probably benign	0.00
R8465:Mup5	UTSW	4	61,752,015 (GRCm39)	missense	probably benign
R9048:Mup5	UTSW	4	61,750,612 (GRCm39)	missense	probably benign	0.20
R9571:Mup5	UTSW	4	61,750,787 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGTAGATCTCATGCCAGTTGTC -3'
(R):5'- GGGAATATAGTGTAGGCACCGTC -3'

Sequencing Primer
(F):5'- CTTCCTCTAAGTGAGAACAGGGGTC -3'
(R):5'- CGTCATCTGAAAGACCTGGTACTG -3'

Posted On

2014-11-11