Mutagenetix > Incidental Mutation

Incidental Mutation 'R7498:Or5p80'

581213

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

045571-MU

Accession Numbers

Essential gene?

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

Stock #

R7498 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108229201-108230133 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 108229623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 141 (C141*)

Ref Sequence

ENSEMBL: ENSMUSP00000072686 (fasta)

Gene Model

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

AlphaFold

Q8VG42

Predicted Effect

probably null
Transcript: ENSMUST00000072914
AA Change: C141*

SMART Domains

Protein: ENSMUSP00000072686
Gene: ENSMUSG00000063764
AA Change: C141*

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: 99.6%
20x: 98.6%

Validation Efficiency

99% (75/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	G	A	2: 68,498,012 (GRCm39)	E148K	unknown	Het
Adgrl2	T	A	3: 148,564,852 (GRCm39)	K243*	probably null	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Ahnak	A	T	19: 8,989,383 (GRCm39)	I3556F	probably benign	Het
Akap6	C	T	12: 53,189,488 (GRCm39)	R2301*	probably null	Het
Alg6	A	G	4: 99,636,933 (GRCm39)	T305A	probably damaging	Het
Alpk1	C	T	3: 127,473,427 (GRCm39)	A859T	probably benign	Het
Apba3	T	A	10: 81,104,735 (GRCm39)	F3I	possibly damaging	Het
Birc6	A	G	17: 74,967,465 (GRCm39)	E4151G	probably damaging	Het
Bmp2k	T	A	5: 97,235,978 (GRCm39)	F1134I	probably benign	Het
C6	A	T	15: 4,792,846 (GRCm39)	H317L	probably damaging	Het
Catsperg2	G	A	7: 29,416,527 (GRCm39)	S295L	possibly damaging	Het
Ccdc142	G	T	6: 83,080,212 (GRCm39)	R385L	possibly damaging	Het
Ciz1	A	T	2: 32,261,761 (GRCm39)	M482L	probably benign	Het
Crisp3	A	G	17: 40,536,693 (GRCm39)		probably null	Het
Dcaf15	G	A	8: 84,828,392 (GRCm39)	P233S	probably damaging	Het
Def8	A	G	8: 124,174,583 (GRCm39)	N16S	probably damaging	Het
Dnah7b	T	G	1: 46,364,925 (GRCm39)	S3569A	probably damaging	Het
Dok6	C	T	18: 89,787,443 (GRCm39)		probably benign	Het
Dop1a	A	T	9: 86,376,464 (GRCm39)	T233S	possibly damaging	Het
Ep300	T	A	15: 81,524,044 (GRCm39)	V1325D	unknown	Het
Fancm	T	A	12: 65,146,165 (GRCm39)	H629Q	probably benign	Het
Fbxo10	T	C	4: 45,062,194 (GRCm39)	S111G	probably benign	Het
Fbxo21	T	C	5: 118,140,239 (GRCm39)		probably null	Het
Fdx1	A	C	9: 51,859,898 (GRCm39)	L144R	probably damaging	Het
Fgfr3	GGACCTCTCCGTG	GG	5: 33,892,766 (GRCm39)		probably null	Het
Flot2	G	A	11: 77,944,188 (GRCm39)		probably null	Het
Fndc10	C	T	4: 155,779,195 (GRCm39)	R80C	probably damaging	Het
Fut8	A	T	12: 77,459,708 (GRCm39)	T274S	probably benign	Het
Gli2	T	C	1: 118,763,565 (GRCm39)	M1529V	possibly damaging	Het
Gm7361	C	A	5: 26,466,188 (GRCm39)	H183Q	probably benign	Het
Hdlbp	T	A	1: 93,341,337 (GRCm39)	H1007L	probably benign	Het
Hmcn2	A	C	2: 31,273,487 (GRCm39)		probably null	Het
Inhbb	C	T	1: 119,345,608 (GRCm39)	R227H	probably damaging	Het
Kifc1	A	G	17: 34,102,846 (GRCm39)	F256L	probably benign	Het
Lman2	A	T	13: 55,494,790 (GRCm39)	F326Y	probably damaging	Het
Mcmdc2	T	C	1: 9,989,302 (GRCm39)	V242A	probably benign	Het
Mettl8	A	C	2: 70,795,969 (GRCm39)	V306G	probably damaging	Het
Mog	A	T	17: 37,322,984 (GRCm39)		probably null	Het
Morc2b	G	A	17: 33,356,833 (GRCm39)	A313V	possibly damaging	Het
Myh3	A	G	11: 66,987,874 (GRCm39)	N1449S	possibly damaging	Het
Myh8	C	A	11: 67,174,263 (GRCm39)	T200K	possibly damaging	Het
Myo16	T	A	8: 10,450,589 (GRCm39)	H530Q	unknown	Het
Neb	C	T	2: 52,148,188 (GRCm39)	R2686H	probably damaging	Het
Nudt2	T	C	4: 41,480,539 (GRCm39)	F141L	possibly damaging	Het
Obscn	G	A	11: 58,973,539 (GRCm39)	H1931Y	probably damaging	Het
Odad3	A	G	9: 21,913,553 (GRCm39)	I73T	probably damaging	Het
Or10al5	A	G	17: 38,063,242 (GRCm39)	T166A	probably damaging	Het
Or2d4	A	T	7: 106,543,575 (GRCm39)	V211D	possibly damaging	Het
Plcb1	T	A	2: 135,104,153 (GRCm39)	L274*	probably null	Het
Plcb1	G	T	2: 135,104,154 (GRCm39)	L274F	probably damaging	Het
Potefam3d	A	C	8: 69,972,475 (GRCm39)	Y91*	probably null	Het
Prc1	C	T	7: 79,962,898 (GRCm39)	T564M	possibly damaging	Het
Psd4	G	A	2: 24,296,996 (GRCm39)	R923Q	probably damaging	Het
Ptprj	G	A	2: 90,266,909 (GRCm39)	Q1300*	probably null	Het
Rapgef6	G	T	11: 54,510,830 (GRCm39)	R249L	probably damaging	Het
Slain1	G	A	14: 103,893,429 (GRCm39)		probably null	Het
Slfn9	A	T	11: 82,873,013 (GRCm39)	I630N	probably damaging	Het
Smg6	G	A	11: 74,819,932 (GRCm39)	A68T	probably benign	Het
Spata31h1	T	A	10: 82,127,113 (GRCm39)	T1966S	probably benign	Het
Spef2	T	A	15: 9,727,625 (GRCm39)	M153L	probably benign	Het
St8sia4	T	A	1: 95,519,418 (GRCm39)	M357L	probably benign	Het
Tal1	A	T	4: 114,925,879 (GRCm39)	H316L	possibly damaging	Het
Tenm4	A	G	7: 96,497,224 (GRCm39)	E1207G	probably damaging	Het
Tmem64	C	A	4: 15,266,176 (GRCm39)	H75Q	probably benign	Het
Tor4a	A	G	2: 25,085,804 (GRCm39)	V33A	probably benign	Het
Traj52	C	T	14: 54,402,818 (GRCm39)	T15I		Het
Trim50	G	A	5: 135,392,768 (GRCm39)	V228M	probably benign	Het
Trpm1	A	T	7: 63,858,657 (GRCm39)	I360F	possibly damaging	Het
Trpm6	A	T	19: 18,853,484 (GRCm39)	R1835W	probably damaging	Het
Ubn1	T	C	16: 4,894,969 (GRCm39)	S672P	probably damaging	Het
Ugt2a2	C	T	5: 87,622,500 (GRCm39)	C156Y	probably damaging	Het
Wnk1	T	C	6: 119,904,157 (GRCm39)	S2223G	unknown	Het
Wnt7b	G	T	15: 85,427,880 (GRCm39)	A194E	probably damaging	Het
Zmpste24	A	G	4: 120,940,028 (GRCm39)	V206A	probably benign	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
R6828:Or5p80	UTSW	7	108,229,500 (GRCm39)	missense	possibly damaging	0.48
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'- CACACCCATCATGCTGAAGG -3'
(R):5'- AGTGACCACAATGATCGACC -3'

Sequencing Primer
(F):5'- CATCATGCTGAAGGGCTTTCTCAG -3'
(R):5'- TCGACCCTGAAGAGATTGCTG -3'

Posted On

2019-10-17