Mutagenetix > Incidental Mutation

Incidental Mutation 'R6787:Or5p72'

532437

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

044901-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R6787 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108021780-108022724 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108021889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 37 (I37T)

Ref Sequence

ENSEMBL: ENSMUSP00000150439 (fasta)

Gene Model

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

AlphaFold

Q8VG08

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076406
AA Change: I37T

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000075741
Gene: ENSMUSG00000095239
AA Change: I37T

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

possibly damaging
Transcript: ENSMUST00000213521
AA Change: I37T

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

96% (51/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	G	A	12: 55,126,768 (GRCm39)	T32I	probably benign	Het
4930486L24Rik	T	A	13: 61,000,922 (GRCm39)	I205L	probably benign	Het
Aatk	C	T	11: 119,901,508 (GRCm39)	V963M	probably damaging	Het
Adra1b	C	A	11: 43,726,242 (GRCm39)	R225L	probably damaging	Het
Adrb1	T	C	19: 56,711,021 (GRCm39)	V73A	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
BC035947	G	T	1: 78,475,527 (GRCm39)	P335Q	possibly damaging	Het
C2cd3	T	C	7: 100,104,553 (GRCm39)	F2189L	probably benign	Het
Capn9	A	G	8: 125,342,924 (GRCm39)	I635V	probably benign	Het
Cep55	T	A	19: 38,046,374 (GRCm39)	D42E	probably benign	Het
Cftr	T	A	6: 18,274,607 (GRCm39)	Y878*	probably null	Het
Clpb	A	T	7: 101,312,866 (GRCm39)		probably benign	Het
Cpeb3	T	C	19: 37,022,089 (GRCm39)	I569V	possibly damaging	Het
Cpne6	A	T	14: 55,752,701 (GRCm39)	D297V	probably damaging	Het
Ddhd1	T	C	14: 45,894,976 (GRCm39)	T165A	probably benign	Het
Fam98b	T	C	2: 117,093,402 (GRCm39)		probably null	Het
Frem2	T	C	3: 53,561,744 (GRCm39)	N921S	probably benign	Het
Gbf1	T	A	19: 46,260,211 (GRCm39)	V1039E	probably benign	Het
Gmip	A	G	8: 70,266,436 (GRCm39)	E212G	probably damaging	Het
Gpcpd1	C	T	2: 132,379,758 (GRCm39)		probably benign	Het
Gtf2ird1	A	T	5: 134,392,766 (GRCm39)	N796K	probably damaging	Het
Hadhb	T	C	5: 30,360,247 (GRCm39)		probably benign	Het
Itga4	T	A	2: 79,119,609 (GRCm39)	S472T	probably damaging	Het
Kcna4	G	A	2: 107,125,670 (GRCm39)	E135K	possibly damaging	Het
Kmt2c	G	T	5: 25,480,737 (GRCm39)		probably null	Het
Lama1	T	C	17: 68,091,020 (GRCm39)	I1620T	unknown	Het
Lins1	A	G	7: 66,363,902 (GRCm39)	E594G	probably benign	Het
Lrrc38	T	A	4: 143,096,364 (GRCm39)	M225K	probably benign	Het
Mphosph9	A	G	5: 124,399,090 (GRCm39)	I975T	probably damaging	Het
Mrgprh	T	C	17: 13,095,874 (GRCm39)	F38S	probably benign	Het
Myo1h	G	A	5: 114,458,714 (GRCm39)	G150R	probably damaging	Het
Oas2	T	G	5: 120,876,863 (GRCm39)	I391L	possibly damaging	Het
Or4a70	T	A	2: 89,324,378 (GRCm39)	R93*	probably null	Het
Or6c3b	T	A	10: 129,527,391 (GRCm39)	D173V	possibly damaging	Het
Or7e178	T	C	9: 20,247,221 (GRCm39)	D14G	probably benign	Het
Pdcd5	T	C	7: 35,342,063 (GRCm39)	T182A	probably damaging	Het
Pdlim7	T	C	13: 55,656,810 (GRCm39)	D48G	probably damaging	Het
Polr3b	A	C	10: 84,464,489 (GRCm39)		probably null	Het
Psmd5	C	T	2: 34,747,649 (GRCm39)		probably null	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Homo
Sdhb	T	C	4: 140,703,501 (GRCm39)	Y208H	probably damaging	Het
Serinc5	G	A	13: 92,842,740 (GRCm39)	V397I	possibly damaging	Het
Sik2	A	T	9: 50,909,834 (GRCm39)	M73K	possibly damaging	Het
Slc41a1	A	G	1: 131,770,487 (GRCm39)		probably null	Het
Slco1a1	T	C	6: 141,882,213 (GRCm39)	I119V	probably benign	Het
Srd5a1	T	C	13: 69,759,418 (GRCm39)		probably benign	Het
Stab2	T	C	10: 86,754,948 (GRCm39)	I1111V	probably benign	Het
Stxbp6	G	T	12: 44,949,779 (GRCm39)		probably null	Het
Tbc1d19	A	G	5: 53,992,591 (GRCm39)		probably null	Het
Tnxb	A	T	17: 34,929,710 (GRCm39)	T2815S	probably benign	Het
Txnip	T	A	3: 96,467,623 (GRCm39)	I363N	probably damaging	Het
Zfp442	A	T	2: 150,251,499 (GRCm39)	N134K	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
R3721:Or5p72	UTSW	7	108,022,326 (GRCm39)	missense	probably damaging	1.00
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
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'- GGAACCCTGAGTAAAACATGAATTG -3'
(R):5'- CCAAGGTAGGAAATGGTATTTCTCTC -3'

Sequencing Primer
(F):5'- TGAGTGAAGCATTGATAAATCTCTTC -3'
(R):5'- TCTCTCAATCAGGAAGTTGAGAAGC -3'

Posted On

2018-08-29