Mutagenetix > Incidental Mutation

Incidental Mutation 'R3721:Or5p72'

258911

Institutional Source

Beutler Lab

Gene Symbol

Or5p72

Ensembl Gene

ENSMUSG00000095239

Gene Name

olfactory receptor family 5 subfamily P member 72

Synonyms

MOR204-9, GA_x6K02T2PBJ9-10752603-10753547, Olfr497

MMRRC Submission

040712-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R3721 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108021780-108022724 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 108022326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 183 (D183Y)

Ref Sequence

ENSEMBL: ENSMUSP00000150439 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076406] [ENSMUST00000213521]

AlphaFold

Q8VG08

Predicted Effect

probably damaging
Transcript: ENSMUST00000076406
AA Change: D183Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000075741
Gene: ENSMUSG00000095239
AA Change: D183Y

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	5.5e-55	PFAM
Pfam:7tm_1	44	293	1.4e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211454
AA Change: D183Y

Predicted Effect

probably damaging
Transcript: ENSMUST00000213521
AA Change: D183Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.6268

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

100% (59/59)

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr2a	T	C	2: 48,782,150 (GRCm39)	S228P	probably damaging	Het
Adamts2	C	T	11: 50,664,038 (GRCm39)		probably benign	Het
Arhgap9	A	G	10: 127,164,840 (GRCm39)	E588G	possibly damaging	Het
Ash2l	C	G	8: 26,308,653 (GRCm39)	G453A	probably damaging	Het
Catsperg2	A	G	7: 29,404,527 (GRCm39)	V638A	probably benign	Het
Ccrl2	T	C	9: 110,885,432 (GRCm39)	D22G	probably benign	Het
Cdc73	T	C	1: 143,571,191 (GRCm39)	I83V	possibly damaging	Het
Ceacam23	A	G	7: 17,636,663 (GRCm39)	T247A	probably benign	Het
Clec2e	C	A	6: 129,071,373 (GRCm39)	E155*	probably null	Het
Cyp3a59	T	A	5: 146,033,407 (GRCm39)	M181K	probably damaging	Het
Dars2	A	T	1: 160,890,878 (GRCm39)	V111E	probably benign	Het
Diras2	T	A	13: 52,662,059 (GRCm39)	I83F	probably damaging	Het
Dlg2	T	A	7: 91,361,008 (GRCm39)		probably null	Het
Dnai1	G	A	4: 41,602,615 (GRCm39)	R113H	probably damaging	Het
Eeig2	C	T	3: 108,887,083 (GRCm39)	R305Q	probably damaging	Het
Emilin2	T	C	17: 71,580,449 (GRCm39)	N759S	probably benign	Het
F11	A	G	8: 45,701,675 (GRCm39)	S353P	probably damaging	Het
Ggnbp1	T	C	17: 27,248,587 (GRCm39)	V52A	probably benign	Het
Gpr171	A	G	3: 59,005,091 (GRCm39)	V228A	possibly damaging	Het
Gsta3	T	C	1: 21,330,313 (GRCm39)	M55T	probably benign	Het
Hectd3	T	A	4: 116,856,942 (GRCm39)	N496K	probably benign	Het
Hp1bp3	T	G	4: 137,966,919 (GRCm39)	F367V	probably damaging	Het
Il18rap	T	A	1: 40,576,248 (GRCm39)	L253Q	probably damaging	Het
Irs1	C	T	1: 82,267,806 (GRCm39)	G137S	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lair1	A	C	7: 4,013,782 (GRCm39)	L155R	probably damaging	Het
Larp7	A	G	3: 127,340,460 (GRCm39)	L126P	probably damaging	Het
Lhx1	G	A	11: 84,412,654 (GRCm39)	R89C	probably damaging	Het
Lypd4	C	A	7: 24,564,884 (GRCm39)	A85S	probably benign	Het
Mei1	A	G	15: 81,987,405 (GRCm39)	H399R	possibly damaging	Het
Myh10	G	T	11: 68,703,878 (GRCm39)	R1863L	probably damaging	Het
Myo9a	G	A	9: 59,775,463 (GRCm39)	V1025I	probably benign	Het
Naa25	T	A	5: 121,569,619 (GRCm39)	D659E	probably benign	Het
Nol9	A	G	4: 152,124,163 (GRCm39)	S118G	probably benign	Het
Or4k2	C	T	14: 50,424,137 (GRCm39)	C179Y	probably damaging	Het
Pde10a	T	A	17: 9,188,421 (GRCm39)	I907N	probably damaging	Het
Pkhd1	T	C	1: 20,655,879 (GRCm39)	D218G	probably benign	Het
Poll	A	G	19: 45,542,016 (GRCm39)	I430T	probably damaging	Het
Pomgnt1	T	G	4: 116,010,740 (GRCm39)		probably benign	Het
Rab6b	T	C	9: 103,044,373 (GRCm39)		probably null	Het
Rad1	T	C	15: 10,488,112 (GRCm39)	S79P	probably benign	Het
Ranbp17	GCCTGGATACTGACC	GCC	11: 33,169,203 (GRCm39)		probably benign	Het
Rcc1	T	C	4: 132,065,125 (GRCm39)	K133E	possibly damaging	Het
Ric8a	T	C	7: 140,441,874 (GRCm39)		probably null	Het
Rnf135	G	T	11: 80,087,743 (GRCm39)	A231S	probably benign	Het
Rps6ka4	A	G	19: 6,816,645 (GRCm39)	V146A	possibly damaging	Het
Sh3bp4	A	G	1: 89,073,050 (GRCm39)	I633V	possibly damaging	Het
Slc2a2	T	A	3: 28,781,301 (GRCm39)	N446K	probably damaging	Het
Slc44a1	T	C	4: 53,491,445 (GRCm39)	Y61H	probably damaging	Het
Slc7a1	G	A	5: 148,272,343 (GRCm39)	R445*	probably null	Het
Smc5	T	C	19: 23,187,856 (GRCm39)	M911V	probably benign	Het
Sntb1	C	A	15: 55,506,214 (GRCm39)	R453L	probably benign	Het
Spink4	T	A	4: 40,929,136 (GRCm39)	C54S	probably damaging	Het
Srrm2	CTCCTCTTCTTCCTCTTCTTCCTC	CTCCTCTTCTTCCTC	17: 24,041,549 (GRCm39)		probably benign	Het
Trpm1	T	G	7: 63,867,475 (GRCm39)		probably benign	Het
Tufm	T	C	7: 126,089,632 (GRCm39)	M442T	probably benign	Het
Ubn1	A	G	16: 4,891,242 (GRCm39)	N539S	possibly damaging	Het

Other mutations in Or5p72

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01448:Or5p72	APN	7	108,022,235 (GRCm39)	nonsense	probably null
IGL03145:Or5p72	APN	7	108,021,806 (GRCm39)	missense	probably benign	0.00
R0732:Or5p72	UTSW	7	108,021,784 (GRCm39)	missense	probably benign	0.00
R1892:Or5p72	UTSW	7	108,022,147 (GRCm39)	missense	possibly damaging	0.61
R2008:Or5p72	UTSW	7	108,022,389 (GRCm39)	missense	probably benign	0.01
R4497:Or5p72	UTSW	7	108,022,122 (GRCm39)	missense	probably benign	0.37
R4674:Or5p72	UTSW	7	108,022,309 (GRCm39)	missense	possibly damaging	0.65
R4675:Or5p72	UTSW	7	108,022,309 (GRCm39)	missense	possibly damaging	0.65
R4695:Or5p72	UTSW	7	108,022,196 (GRCm39)	missense	probably benign	0.18
R5265:Or5p72	UTSW	7	108,022,609 (GRCm39)	missense	possibly damaging	0.94
R5656:Or5p72	UTSW	7	108,021,825 (GRCm39)	missense	probably benign	0.03
R5758:Or5p72	UTSW	7	108,022,369 (GRCm39)	missense	probably benign	0.02
R6124:Or5p72	UTSW	7	108,022,725 (GRCm39)	splice site	probably null
R6787:Or5p72	UTSW	7	108,021,889 (GRCm39)	missense	possibly damaging	0.52
R7174:Or5p72	UTSW	7	108,022,367 (GRCm39)	missense	probably benign	0.01
R7222:Or5p72	UTSW	7	108,021,844 (GRCm39)	missense	probably benign	0.00
R7240:Or5p72	UTSW	7	108,022,140 (GRCm39)	missense	probably damaging	1.00
R8752:Or5p72	UTSW	7	108,022,480 (GRCm39)	missense	probably benign
R9548:Or5p72	UTSW	7	108,022,416 (GRCm39)	missense	possibly damaging	0.75
R9786:Or5p72	UTSW	7	108,021,924 (GRCm39)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- GATCGCTTCATGGCAATCTGC -3'
(R):5'- GGTGCCATAATAAAGAGTGACTGC -3'

Sequencing Primer
(F):5'- GCAATCTGCAACCCGCTG -3'
(R):5'- CAGGTGGAGAAGGCCTTGTG -3'

Posted On

2015-01-23