Mutagenetix > Incidental Mutation

Incidental Mutation 'R6828:Or5p80'

534252

Institutional Source

Beutler Lab

Gene Symbol

Or5p80

Ensembl Gene

ENSMUSG00000063764

Gene Name

olfactory receptor family 5 subfamily P member 80

Synonyms

MOR204-6, GA_x6K02T2PBJ9-10959726-10960658, Olfr508

MMRRC Submission

045020-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R6828 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108229201-108230133 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 108229500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 100 (Q100H)

Ref Sequence

ENSEMBL: ENSMUSP00000072686 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072914]

AlphaFold

Q8VG42

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072914
AA Change: Q100H

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000072686
Gene: ENSMUSG00000063764
AA Change: Q100H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2.8e-50	PFAM
Pfam:7tm_1	41	290	3.8e-20	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,545,389 (GRCm39)	M349K	possibly damaging	Het
Akap12	A	G	10: 4,304,606 (GRCm39)	E472G	probably damaging	Het
Ap2s1	T	C	7: 16,482,626 (GRCm39)	Y94H	probably damaging	Het
Apeh	A	G	9: 107,964,237 (GRCm39)	F530L	probably damaging	Het
Aplnr	G	A	2: 84,970,103 (GRCm39)		probably benign	Het
Arid3b	A	G	9: 57,717,446 (GRCm39)		probably null	Het
Ash1l	A	C	3: 88,983,420 (GRCm39)	D2874A	probably benign	Het
Aurka	T	A	2: 172,199,172 (GRCm39)	R277S	probably damaging	Het
Calhm4	A	G	10: 33,919,953 (GRCm39)	F105L	possibly damaging	Het
Ccar1	C	A	10: 62,600,209 (GRCm39)	W574L	probably damaging	Het
Cd8b1	T	C	6: 71,311,100 (GRCm39)	F207L	probably benign	Het
Clec14a	T	C	12: 58,315,290 (GRCm39)	R111G	probably damaging	Het
Clk3	G	A	9: 57,668,132 (GRCm39)	T263I	possibly damaging	Het
Col11a2	A	G	17: 34,272,607 (GRCm39)		probably null	Het
Col5a3	C	T	9: 20,709,748 (GRCm39)	G604D	unknown	Het
Cracdl	T	C	1: 37,663,898 (GRCm39)	T667A	possibly damaging	Het
Crb2	ACTGCTGCTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	2: 37,666,421 (GRCm39)		probably benign	Het
Ctps1	A	T	4: 120,405,335 (GRCm39)	V369D	probably damaging	Het
Dennd5b	A	G	6: 148,895,244 (GRCm39)	I1262T	probably damaging	Het
Dmxl1	C	T	18: 50,054,091 (GRCm39)	P2566S	probably damaging	Het
Fam170b	A	G	14: 32,557,915 (GRCm39)	D250G	probably damaging	Het
Foxs1	G	A	2: 152,775,048 (GRCm39)	Q2*	probably null	Het
Frmpd1	T	C	4: 45,275,383 (GRCm39)	V512A	probably damaging	Het
Fry	G	A	5: 150,389,911 (GRCm39)		probably null	Het
Gria1	A	G	11: 57,180,288 (GRCm39)	Y677C	probably damaging	Het
Igdcc4	T	C	9: 65,029,979 (GRCm39)	I343T	probably benign	Het
Igkv1-132	T	C	6: 67,736,697 (GRCm39)	V5A	probably benign	Het
Ikzf5	A	T	7: 130,993,401 (GRCm39)	C256S	probably damaging	Het
Itk	G	A	11: 46,232,045 (GRCm39)	H297Y	probably damaging	Het
Lamb3	A	G	1: 193,017,756 (GRCm39)	E879G	probably benign	Het
Lpin2	T	C	17: 71,529,123 (GRCm39)	V127A	probably damaging	Het
Man2b1	C	A	8: 85,813,548 (GRCm39)	P247T	possibly damaging	Het
Meak7	G	A	8: 120,499,306 (GRCm39)	T62I	possibly damaging	Het
Mxd3	T	C	13: 55,473,967 (GRCm39)	K122E	probably benign	Het
Npr1	C	A	3: 90,372,120 (GRCm39)	V231L	probably benign	Het
Nsd2	C	T	5: 34,050,912 (GRCm39)	A1263V	probably damaging	Het
Olfm4	A	G	14: 80,258,973 (GRCm39)	D374G	probably damaging	Het
Optc	A	T	1: 133,825,605 (GRCm39)	I307N	probably damaging	Het
Or6c3b	A	T	10: 129,527,863 (GRCm39)	S16T	probably damaging	Het
Pecr	C	A	1: 72,306,616 (GRCm39)	E222*	probably null	Het
Pibf1	A	G	14: 99,423,987 (GRCm39)	N520S	probably benign	Het
Rhoj	A	G	12: 75,355,653 (GRCm39)	N19S	probably benign	Het
Rock2	G	A	12: 16,992,960 (GRCm39)		probably null	Het
Rpa1	G	A	11: 75,205,697 (GRCm39)	T220I	probably damaging	Het
Sdf2l1	C	G	16: 16,950,158 (GRCm39)	R6P	probably benign	Het
Sipa1l3	G	A	7: 29,038,457 (GRCm39)	H397Y	probably benign	Het
Snrk	T	C	9: 121,966,632 (GRCm39)	I185T	probably damaging	Het
Srrt	A	T	5: 137,295,230 (GRCm39)	V300E	probably damaging	Het
Taok2	A	T	7: 126,471,047 (GRCm39)		probably null	Het
Tmem131	T	C	1: 36,843,724 (GRCm39)	K1379R	possibly damaging	Het
Usp15	T	C	10: 122,963,894 (GRCm39)	I543V	probably damaging	Het
Zfp553	A	G	7: 126,835,447 (GRCm39)	E334G	probably damaging	Het
Zim1	T	C	7: 6,680,688 (GRCm39)	Y325C	probably damaging	Het

Other mutations in Or5p80

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01392:Or5p80	APN	7	108,229,885 (GRCm39)	missense	probably benign	0.01
IGL02045:Or5p80	APN	7	108,229,739 (GRCm39)	missense	probably damaging	1.00
IGL03354:Or5p80	APN	7	108,229,735 (GRCm39)	missense	possibly damaging	0.75
R0047:Or5p80	UTSW	7	108,229,759 (GRCm39)	missense	probably benign	0.00
R1162:Or5p80	UTSW	7	108,230,120 (GRCm39)	missense	probably benign	0.00
R1816:Or5p80	UTSW	7	108,229,364 (GRCm39)	missense	probably damaging	1.00
R1828:Or5p80	UTSW	7	108,229,855 (GRCm39)	missense	possibly damaging	0.88
R1924:Or5p80	UTSW	7	108,229,562 (GRCm39)	missense	probably damaging	1.00
R1938:Or5p80	UTSW	7	108,230,045 (GRCm39)	missense	probably benign	0.42
R2155:Or5p80	UTSW	7	108,229,984 (GRCm39)	missense	probably damaging	1.00
R3416:Or5p80	UTSW	7	108,229,225 (GRCm39)	missense	possibly damaging	0.75
R4078:Or5p80	UTSW	7	108,230,114 (GRCm39)	missense	probably benign	0.31
R4271:Or5p80	UTSW	7	108,229,560 (GRCm39)	nonsense	probably null
R4884:Or5p80	UTSW	7	108,229,819 (GRCm39)	missense	probably damaging	0.98
R5842:Or5p80	UTSW	7	108,229,859 (GRCm39)	missense	probably benign	0.06
R6281:Or5p80	UTSW	7	108,229,609 (GRCm39)	missense	probably benign	0.24
R6558:Or5p80	UTSW	7	108,229,395 (GRCm39)	missense	probably damaging	0.99
R7498:Or5p80	UTSW	7	108,229,623 (GRCm39)	nonsense	probably null
R7708:Or5p80	UTSW	7	108,230,048 (GRCm39)	missense	probably damaging	1.00
R7766:Or5p80	UTSW	7	108,229,583 (GRCm39)	missense	probably benign	0.04
R8955:Or5p80	UTSW	7	108,229,506 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCTTAATGGGCAATGCGAGC -3'
(R):5'- GAGATTGCTGGAATGACTTCAGAAG -3'

Sequencing Primer
(F):5'- CCTTAATGGGCAATGCGAGCATAATC -3'
(R):5'- ACACGAAATCTTCAAAAGTGGTG -3'

Posted On

2018-09-12