Mutagenetix > Incidental Mutation

Incidental Mutation 'R1054:Mup5'

94170

Institutional Source

Beutler Lab

Gene Symbol

Mup5

Ensembl Gene

ENSMUSG00000058523

Gene Name

major urinary protein 5

Synonyms

Mup V

MMRRC Submission

039144-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R1054 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61749556-61753417 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61750871 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 145 (S145R)

Ref Sequence

ENSEMBL: ENSMUSP00000080908 (fasta)

Gene Model

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

AlphaFold

P11591

Predicted Effect

probably benign
Transcript: ENSMUST00000082287
AA Change: S145R

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000080908
Gene: ENSMUSG00000058523
AA Change: S145R

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap39	T	C	15: 76,635,759 (GRCm39)	T159A	probably benign	Het
Arhgef38	T	C	3: 132,822,226 (GRCm39)	Y763C	probably damaging	Het
Arv1	T	A	8: 125,458,611 (GRCm39)	F245Y	probably benign	Het
Ccdc175	A	G	12: 72,225,318 (GRCm39)	I113T	possibly damaging	Het
Cdc42bpb	A	T	12: 111,279,787 (GRCm39)	M932K	probably benign	Het
Cdh15	T	C	8: 123,591,076 (GRCm39)	F442L	possibly damaging	Het
Col28a1	C	T	6: 8,175,534 (GRCm39)	D105N	probably damaging	Het
Cpne4	A	G	9: 104,899,600 (GRCm39)	T428A	probably benign	Het
Cramp1	T	A	17: 25,202,151 (GRCm39)	I444F	probably damaging	Het
Dhx32	T	A	7: 133,327,001 (GRCm39)	K360M	probably damaging	Het
Dna2	T	A	10: 62,799,602 (GRCm39)	C669S	possibly damaging	Het
Dusp8	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC	7: 141,635,804 (GRCm39)		probably benign	Het
Eif3f	G	A	7: 108,537,024 (GRCm39)		probably null	Het
Elmod1	T	C	9: 53,820,058 (GRCm39)	D310G	probably benign	Het
Fn1	A	G	1: 71,625,373 (GRCm39)	*2272Q	probably null	Het
Gnat1	A	G	9: 107,554,638 (GRCm39)	S76P	probably damaging	Het
Gtf2f2	T	C	14: 76,232,885 (GRCm39)	T94A	probably benign	Het
Hacd4	A	T	4: 88,341,264 (GRCm39)	W152R	probably damaging	Het
Kcnh8	A	G	17: 53,110,512 (GRCm39)	Y241C	probably damaging	Het
Lepr	T	C	4: 101,639,793 (GRCm39)	I753T	probably damaging	Het
Med12l	C	T	3: 59,156,072 (GRCm39)	H1162Y	probably damaging	Het
Med25	C	T	7: 44,529,804 (GRCm39)	A485T	probably benign	Het
Myo1g	A	G	11: 6,468,987 (GRCm39)	V105A	probably damaging	Het
Npc2	A	G	12: 84,807,492 (GRCm39)		probably null	Het
Or52h1	A	G	7: 103,829,498 (GRCm39)	I39T	probably benign	Het
Or6p1	A	G	1: 174,258,419 (GRCm39)	T142A	probably benign	Het
Otulinl	T	C	15: 27,664,635 (GRCm39)	R79G	probably damaging	Het
Pdzd2	A	G	15: 12,371,725 (GRCm39)	S2557P	probably damaging	Het
Pop1	T	C	15: 34,509,955 (GRCm39)	V353A	probably benign	Het
Pou3f2	A	G	4: 22,487,536 (GRCm39)	V199A	possibly damaging	Het
Pramel18	A	G	4: 101,766,361 (GRCm39)	E15G	probably benign	Het
Ptprm	A	T	17: 67,349,313 (GRCm39)	N43K	probably damaging	Het
Qrsl1	C	T	10: 43,758,077 (GRCm39)	D339N	probably damaging	Het
Rpl13-ps3	C	A	14: 59,131,394 (GRCm39)		noncoding transcript	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sdr16c6	A	G	4: 4,069,908 (GRCm39)	V144A	probably damaging	Het
Spata31d1b	C	A	13: 59,865,332 (GRCm39)	H827N	probably damaging	Het
Spata31e4	T	C	13: 50,856,432 (GRCm39)	V690A	probably benign	Het
Taf4b	T	A	18: 14,954,530 (GRCm39)	H535Q	probably benign	Het
Timmdc1	A	G	16: 38,342,790 (GRCm39)	V36A	probably benign	Het
Tmem74b	C	T	2: 151,548,339 (GRCm39)	A22V	probably benign	Het
Txnrd3	T	A	6: 89,627,543 (GRCm39)	Y65*	probably null	Het
Vmn1r200	T	A	13: 22,579,624 (GRCm39)	S133R	probably damaging	Het
Vwf	G	A	6: 125,567,190 (GRCm39)	C311Y	probably damaging	Het
Wipf2	G	A	11: 98,787,141 (GRCm39)	R390H	possibly damaging	Het
Zfp282	T	A	6: 47,881,533 (GRCm39)	S407T	probably benign	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
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
R2384:Mup5	UTSW	4	61,753,261 (GRCm39)	splice site	probably null
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'- GGAGGCTCAGGCCATTCTTCATTC -3'
(R):5'- CTCCAGCATAGTGATGGAAGCACTC -3'

Sequencing Primer
(F):5'- TCCACTTTATTTCCCCAAGAGAAAGG -3'
(R):5'- GATGGAAGCACTCTGAAATCTCTC -3'

Posted On

2014-01-05