Mutagenetix > Incidental Mutation

Incidental Mutation 'R4271:Or5p80'

322168

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

041076-MU

Accession Numbers

Essential gene?

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

Stock #

R4271 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108229201-108230133 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 108229560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 120 (Y120*)

Ref Sequence

ENSEMBL: ENSMUSP00000072686 (fasta)

Gene Model

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

AlphaFold

Q8VG42

Predicted Effect

probably null
Transcript: ENSMUST00000072914
AA Change: Y120*

SMART Domains

Protein: ENSMUSP00000072686
Gene: ENSMUSG00000063764
AA Change: Y120*

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: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931422A03Rik	A	G	2: 103,856,549 (GRCm39)		probably benign	Het
Acp6	T	C	3: 97,073,934 (GRCm39)		probably null	Het
Actr6	T	A	10: 89,553,101 (GRCm39)	R252S	probably benign	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Ash1l	T	A	3: 88,889,347 (GRCm39)	C409S	probably benign	Het
Aspg	T	C	12: 112,087,629 (GRCm39)	S327P	probably damaging	Het
B430203G13Rik	CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	12: 17,974,358 (GRCm39)		noncoding transcript	Het
C1galt1	T	C	6: 7,866,607 (GRCm39)	F151S	probably damaging	Het
C1qtnf6	G	A	15: 78,409,466 (GRCm39)	T127I	probably benign	Het
Ccdc88c	G	T	12: 100,913,478 (GRCm39)	Q516K	probably damaging	Het
Cdh11	T	A	8: 103,391,258 (GRCm39)	D326V	possibly damaging	Het
Cecr2	C	T	6: 120,739,436 (GRCm39)	H1360Y	probably damaging	Het
Cfap70	T	C	14: 20,470,793 (GRCm39)	E484G	probably benign	Het
Chml	G	A	1: 175,515,360 (GRCm39)	T187M	probably benign	Het
Chpt1	C	T	10: 88,317,214 (GRCm39)		probably benign	Het
Cmtr1	T	C	17: 29,916,956 (GRCm39)	S618P	probably benign	Het
Cspg4b	G	T	13: 113,478,904 (GRCm39)	V1483L	possibly damaging	Het
Cyfip1	A	T	7: 55,528,849 (GRCm39)	M244L	probably benign	Het
Dock1	T	C	7: 134,335,783 (GRCm39)	I59T	probably damaging	Het
Duox1	T	C	2: 122,154,856 (GRCm39)	F414L	probably damaging	Het
Gm1110	A	T	9: 26,806,944 (GRCm39)		probably null	Het
Gsap	T	C	5: 21,431,348 (GRCm39)		probably null	Het
H2-T3	T	C	17: 36,500,510 (GRCm39)	Y111C	probably damaging	Het
Hectd4	AGCGGCGGCGGCGGCGGCGGCGG	AGCGGCGGCGGCGGCGGCGG	5: 121,358,567 (GRCm39)		probably benign	Het
Kif12	T	C	4: 63,088,983 (GRCm39)	Q146R	probably benign	Het
Kif26a	C	T	12: 112,139,848 (GRCm39)	S460F	probably damaging	Het
Klhl15	AG	A	X: 93,296,718 (GRCm39)		probably null	Het
Lims1	T	C	10: 58,246,026 (GRCm39)		probably null	Het
Nbr1	T	C	11: 101,458,048 (GRCm39)	Y276H	possibly damaging	Het
Nfe2l3	A	G	6: 51,433,614 (GRCm39)	D242G	probably damaging	Het
Oacyl	T	A	18: 65,871,038 (GRCm39)	L340Q	probably damaging	Het
Or4n4b	A	T	14: 50,535,908 (GRCm39)	I286N	probably damaging	Het
Osbpl5	G	T	7: 143,249,339 (GRCm39)	Y543*	probably null	Het
Polr1a	G	A	6: 71,930,006 (GRCm39)	E898K	probably benign	Het
Pramel51	A	T	12: 88,145,053 (GRCm39)	I91K	probably damaging	Het
Rad54l2	G	A	9: 106,570,825 (GRCm39)	A1165V	probably benign	Het
Rimbp2	T	G	5: 128,896,841 (GRCm39)	N23T	probably benign	Het
Scp2	T	C	4: 107,942,408 (GRCm39)	D306G	probably damaging	Het
Slco4a1	A	G	2: 180,116,003 (GRCm39)	D713G	possibly damaging	Het
Smarca2	T	A	19: 26,698,349 (GRCm39)		probably null	Het
Spem2	T	C	11: 69,708,251 (GRCm39)	Y238C	probably damaging	Het
Srpk2	T	A	5: 23,753,513 (GRCm39)	H80L	possibly damaging	Het
Tmem161a	T	C	8: 70,634,162 (GRCm39)	L365P	probably damaging	Het
Tsnax	T	C	8: 125,759,468 (GRCm39)	L243P	probably damaging	Het
Ttn	A	G	2: 76,731,979 (GRCm39)		probably benign	Het
V1rd19	A	G	7: 23,702,839 (GRCm39)	T102A	probably benign	Het
Vmn2r94	T	C	17: 18,463,940 (GRCm39)	I783M	probably damaging	Het
Zeb1	C	A	18: 5,758,985 (GRCm39)	Q148K	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
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
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'- TGGGCAATGCGAGCATAATC -3'
(R):5'- CGACCCTGAAGAGATTGCTG -3'

Sequencing Primer
(F):5'- TGCTAATCAGAAGAAGCCCTCAG -3'
(R):5'- CCTGAAGAGATTGCTGGAATGACTTC -3'

Posted On

2015-06-20