Mutagenetix > Incidental Mutation

Incidental Mutation 'R2403:Mup4'

248805

Institutional Source

Beutler Lab

Gene Symbol

Mup4

Ensembl Gene

ENSMUSG00000041333

Gene Name

major urinary protein 4

Synonyms

Mup-4

MMRRC Submission

040369-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R2403 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59956804-59960667 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59958145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 141 (D141V)

Ref Sequence

ENSEMBL: ENSMUSP00000075356 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075973]

AlphaFold

P11590

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

probably damaging
Transcript: ENSMUST00000075973
AA Change: D141V

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000075356
Gene: ENSMUSG00000041333
AA Change: D141V

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Lipocalin	32	171	8.6e-38	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,964,592 (GRCm39)	E925G	probably damaging	Het
Abca9	T	G	11: 110,006,280 (GRCm39)	Q1275P	probably benign	Het
Adgrl1	T	A	8: 84,657,870 (GRCm39)	M492K	probably benign	Het
Ankrd50	T	A	3: 38,537,234 (GRCm39)	K3*	probably null	Het
Arl5b	T	C	2: 15,079,848 (GRCm39)	S140P	probably damaging	Het
Armc1	T	C	3: 19,211,840 (GRCm39)		probably benign	Het
Ascc1	T	C	10: 59,840,663 (GRCm39)	I8T	probably benign	Het
Bche	A	G	3: 73,608,805 (GRCm39)	V207A	probably damaging	Het
Cacna2d3	A	G	14: 28,627,259 (GRCm39)	L1080P	probably benign	Het
Ceacam3	C	A	7: 16,895,779 (GRCm39)	A583D	probably damaging	Het
Cep290	C	T	10: 100,373,299 (GRCm39)	A1193V	probably benign	Het
Clcn1	T	C	6: 42,290,046 (GRCm39)	I827T	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col28a1	T	C	6: 8,175,641 (GRCm39)	D69G	possibly damaging	Het
Cts3	A	G	13: 61,712,806 (GRCm39)	W305R	probably damaging	Het
Dmwd	T	C	7: 18,815,084 (GRCm39)	I578T	possibly damaging	Het
Dnmt3a	G	A	12: 3,949,883 (GRCm39)	V559M	probably damaging	Het
Dysf	T	C	6: 84,016,549 (GRCm39)	V70A	possibly damaging	Het
Eml6	A	G	11: 29,752,434 (GRCm39)	V993A	probably benign	Het
Etl4	T	A	2: 20,812,117 (GRCm39)	L1768*	probably null	Het
F11	A	G	8: 45,701,675 (GRCm39)	S353P	probably damaging	Het
Fat3	T	G	9: 15,881,167 (GRCm39)	D3235A	probably damaging	Het
Fbxo36	T	A	1: 84,877,823 (GRCm39)	F162I	probably damaging	Het
Fgfrl1	T	C	5: 108,852,897 (GRCm39)	W200R	probably damaging	Het
Fsip2	T	C	2: 82,811,064 (GRCm39)	M2461T	possibly damaging	Het
Fut1	A	G	7: 45,268,643 (GRCm39)	Y144C	probably benign	Het
Gprin3	G	A	6: 59,331,134 (GRCm39)	A391V	probably benign	Het
H2-Q4	A	G	17: 35,598,973 (GRCm39)	E81G	probably damaging	Het
Hacd3	A	G	9: 64,908,311 (GRCm39)	S162P	probably damaging	Het
Itga1	A	T	13: 115,114,150 (GRCm39)	H918Q	probably benign	Het
Lrp5	C	A	19: 3,647,430 (GRCm39)	D1271Y	probably damaging	Het
Lsm8	C	T	6: 18,849,643 (GRCm39)	T17I	probably benign	Het
Nckap5	G	A	1: 125,955,146 (GRCm39)	H405Y	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or12k8	T	C	2: 36,974,986 (GRCm39)	Y258C	probably benign	Het
Ostf1	T	C	19: 18,562,026 (GRCm39)	K190R	probably benign	Het
Pnldc1	A	T	17: 13,118,777 (GRCm39)	V197E	probably damaging	Het
Ptprc	A	G	1: 138,016,270 (GRCm39)	S531P	probably damaging	Het
Ryr3	C	T	2: 112,516,973 (GRCm39)	E3318K	probably damaging	Het
Scamp2	T	C	9: 57,484,995 (GRCm39)	V67A	possibly damaging	Het
Serpina3g	C	A	12: 104,207,421 (GRCm39)	L195M	probably damaging	Het
Siglec1	G	T	2: 130,916,395 (GRCm39)	T1185N	possibly damaging	Het
Sycp2	G	A	2: 178,045,528 (GRCm39)	Q31*	probably null	Het
Tmprss15	T	G	16: 78,854,578 (GRCm39)	T277P	probably damaging	Het
Trim34b	C	T	7: 103,978,876 (GRCm39)	S41L	probably benign	Het
Ttn	T	C	2: 76,557,705 (GRCm39)	T21507A	possibly damaging	Het
Umad1	T	C	6: 8,427,161 (GRCm39)	V138A	possibly damaging	Het
Zfp523	A	G	17: 28,414,183 (GRCm39)	I72M	probably damaging	Het
Zfp655	C	T	5: 145,181,356 (GRCm39)	R405C	probably benign	Het
Zfp715	G	A	7: 42,948,692 (GRCm39)	R423C	possibly damaging	Het

Other mutations in Mup4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01550:Mup4	APN	4	59,960,120 (GRCm39)	missense	probably damaging	1.00
IGL02956:Mup4	APN	4	59,959,263 (GRCm39)	missense	probably benign	0.08
IGL03017:Mup4	APN	4	59,957,890 (GRCm39)	missense	probably damaging	0.99
IGL03139:Mup4	APN	4	59,958,482 (GRCm39)	splice site	probably benign
IGL03282:Mup4	APN	4	59,958,547 (GRCm39)	missense	possibly damaging	0.56
marine	UTSW	4	59,960,622 (GRCm39)	unclassified	probably benign
R1440:Mup4	UTSW	4	59,958,076 (GRCm39)	missense	probably damaging	1.00
R1462:Mup4	UTSW	4	59,960,084 (GRCm39)	missense	possibly damaging	0.91
R1462:Mup4	UTSW	4	59,960,084 (GRCm39)	missense	possibly damaging	0.91
R1721:Mup4	UTSW	4	59,960,598 (GRCm39)	start codon destroyed	probably null
R2067:Mup4	UTSW	4	59,960,622 (GRCm39)	unclassified	probably benign
R2302:Mup4	UTSW	4	59,960,702 (GRCm39)	splice site	probably null
R3431:Mup4	UTSW	4	59,959,192 (GRCm39)	splice site	probably null
R4487:Mup4	UTSW	4	59,960,547 (GRCm39)	missense	probably damaging	0.98
R5028:Mup4	UTSW	4	59,958,124 (GRCm39)	missense	possibly damaging	0.69
R5208:Mup4	UTSW	4	59,958,119 (GRCm39)	missense	probably damaging	1.00
R5430:Mup4	UTSW	4	59,960,044 (GRCm39)	missense	probably damaging	0.98
R6255:Mup4	UTSW	4	59,957,890 (GRCm39)	missense	probably damaging	0.99
R6304:Mup4	UTSW	4	59,960,084 (GRCm39)	missense	possibly damaging	0.91
R6745:Mup4	UTSW	4	59,960,091 (GRCm39)	missense	possibly damaging	0.50
R7326:Mup4	UTSW	4	59,960,046 (GRCm39)	missense	possibly damaging	0.95
R7606:Mup4	UTSW	4	59,958,568 (GRCm39)	missense	probably damaging	1.00
R8733:Mup4	UTSW	4	59,958,587 (GRCm39)	missense	probably damaging	0.99
X0026:Mup4	UTSW	4	59,960,559 (GRCm39)	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- AGGATAGGACTCTCCAGTGC -3'
(R):5'- AGTGATGGAAGCACTCTGAAATC -3'

Sequencing Primer
(F):5'- GTGCTCAACAAATGACTGGTATCC -3'
(R):5'- GGAAGCACTCTGAAATCTCTCAGTG -3'

Posted On

2014-11-11