Mutagenetix > Incidental Mutation

Incidental Mutation 'R4369:Or5p79'

325897

Institutional Source

Beutler Lab

Gene Symbol

Or5p79

Ensembl Gene

ENSMUSG00000061000

Gene Name

olfactory receptor family 5 subfamily P member 79

Synonyms

Olfr507, GA_x6K02T2PBJ9-10951546-10952496, MOR204-7

MMRRC Submission

041116-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R4369 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108221021-108221971 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108221096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 26 (L26F)

Ref Sequence

ENSEMBL: ENSMUSP00000078926 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080014]

AlphaFold

Q8VG13

Predicted Effect

probably benign
Transcript: ENSMUST00000080014
AA Change: L26F

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000078926
Gene: ENSMUSG00000061000
AA Change: L26F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	313	6.1e-52	PFAM
Pfam:7tm_1	44	295	1e-20	PFAM

Meta Mutation Damage Score

0.5410

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

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
5730596B20Rik	A	T	6: 52,156,042 (GRCm39)		probably benign	Het
A730018C14Rik	T	C	12: 112,382,048 (GRCm39)		noncoding transcript	Het
Abcc1	T	G	16: 14,278,857 (GRCm39)	S1056A	possibly damaging	Het
Akr1c19	A	T	13: 4,283,779 (GRCm39)	K4*	probably null	Het
Amph	T	A	13: 19,321,870 (GRCm39)	S516R	probably benign	Het
Apoh	T	C	11: 108,288,205 (GRCm39)	F108L	probably damaging	Het
Arg2	T	C	12: 79,196,746 (GRCm39)	S156P	probably damaging	Het
AU018091	A	T	7: 3,207,815 (GRCm39)	L582*	probably null	Het
Bckdk	C	T	7: 127,505,591 (GRCm39)	A238V	probably benign	Het
Bean1	T	A	8: 104,943,742 (GRCm39)	V275D	probably damaging	Het
Brpf3	C	T	17: 29,055,594 (GRCm39)	A1181V	probably damaging	Het
Cfb	T	C	17: 35,079,290 (GRCm39)	K287R	probably damaging	Het
Cpd	T	C	11: 76,688,537 (GRCm39)	N912D	possibly damaging	Het
Cyp4f14	T	C	17: 33,128,232 (GRCm39)	N261S	probably benign	Het
Dennd3	T	C	15: 73,412,658 (GRCm39)	I440T	probably damaging	Het
Dhx38	C	T	8: 110,279,763 (GRCm39)	V976I	probably damaging	Het
Dpep2	T	G	8: 106,711,707 (GRCm39)	L573F	probably benign	Het
Ebag9	T	C	15: 44,491,865 (GRCm39)	S86P	probably benign	Het
Epha1	T	C	6: 42,342,391 (GRCm39)	Y319C	probably damaging	Het
Eps8l3	T	C	3: 107,798,330 (GRCm39)	Y466H	possibly damaging	Het
Ercc6	A	G	14: 32,239,164 (GRCm39)	E84G	probably damaging	Het
Ffar1	A	G	7: 30,560,033 (GRCm39)	I288T	probably benign	Het
Flnb	C	T	14: 7,942,216 (GRCm38)	T2398I	probably benign	Het
Galnt15	T	C	14: 31,751,496 (GRCm39)	F16S	possibly damaging	Het
Golgb1	A	G	16: 36,737,269 (GRCm39)	E2172G	probably damaging	Het
Lhx4	T	A	1: 155,580,560 (GRCm39)	H161L	probably benign	Het
Lrp1	T	C	10: 127,386,155 (GRCm39)	N3457S	possibly damaging	Het
Map7d1	A	T	4: 126,128,866 (GRCm39)	S436T	probably damaging	Het
Nmral1	T	C	16: 4,532,394 (GRCm39)	Y139C	probably damaging	Het
Noc2l	A	G	4: 156,321,853 (GRCm39)	D84G	possibly damaging	Het
Or2a25	T	A	6: 42,889,211 (GRCm39)	Y251*	probably null	Het
Osbpl11	T	C	16: 33,045,018 (GRCm39)	S386P	probably damaging	Het
Papss2	A	G	19: 32,618,791 (GRCm39)	H283R	probably damaging	Het
Pcdha11	T	C	18: 37,139,796 (GRCm39)	V475A	possibly damaging	Het
Pglyrp3	T	C	3: 91,935,386 (GRCm39)	I212T	probably damaging	Het
Pkhd1l1	C	T	15: 44,368,949 (GRCm39)	R865W	probably benign	Het
Prdm9	T	C	17: 15,764,708 (GRCm39)	T691A	probably benign	Het
Rnf121	T	C	7: 101,673,313 (GRCm39)	D206G	probably benign	Het
Rnf122	T	A	8: 31,602,177 (GRCm39)	M1K	probably null	Het
Shank2	T	C	7: 143,733,518 (GRCm39)	S22P	probably damaging	Het
Smg6	C	T	11: 74,823,269 (GRCm39)	R175*	probably null	Het
Speer3	C	G	5: 13,846,394 (GRCm39)	A238G	possibly damaging	Het
Thsd7a	C	T	6: 12,468,907 (GRCm39)	C557Y	probably damaging	Het
Tiam2	A	G	17: 3,464,242 (GRCm39)		probably benign	Het
Trgv4	T	C	13: 19,369,567 (GRCm39)	Y104H	probably benign	Het
Ttn	C	T	2: 76,594,345 (GRCm39)	W18788*	probably null	Het
Vmn2r82	A	T	10: 79,231,914 (GRCm39)	I638F	probably benign	Het
Zswim6	A	G	13: 107,863,229 (GRCm39)		noncoding transcript	Het

Other mutations in Or5p79

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01066:Or5p79	APN	7	108,221,064 (GRCm39)	missense	probably damaging	1.00
IGL01979:Or5p79	APN	7	108,221,648 (GRCm39)	missense	probably benign	0.09
IGL02373:Or5p79	APN	7	108,221,310 (GRCm39)	missense	probably benign	0.11
IGL02754:Or5p79	APN	7	108,221,880 (GRCm39)	missense	possibly damaging	0.94
IGL03008:Or5p79	APN	7	108,221,490 (GRCm39)	missense	probably damaging	0.99
R0305:Or5p79	UTSW	7	108,221,792 (GRCm39)	missense	probably benign	0.01
R0584:Or5p79	UTSW	7	108,221,622 (GRCm39)	missense	probably benign	0.00
R0611:Or5p79	UTSW	7	108,221,494 (GRCm39)	missense	possibly damaging	0.72
R0947:Or5p79	UTSW	7	108,221,879 (GRCm39)	missense	probably benign	0.02
R1488:Or5p79	UTSW	7	108,221,696 (GRCm39)	missense	probably damaging	1.00
R1808:Or5p79	UTSW	7	108,221,817 (GRCm39)	missense	possibly damaging	0.87
R3763:Or5p79	UTSW	7	108,221,924 (GRCm39)	missense	probably damaging	1.00
R4367:Or5p79	UTSW	7	108,221,096 (GRCm39)	missense	probably benign	0.27
R4371:Or5p79	UTSW	7	108,221,096 (GRCm39)	missense	probably benign	0.27
R4609:Or5p79	UTSW	7	108,221,711 (GRCm39)	missense	probably benign	0.35
R5389:Or5p79	UTSW	7	108,221,924 (GRCm39)	missense	probably damaging	1.00
R6499:Or5p79	UTSW	7	108,221,713 (GRCm39)	missense	probably benign	0.02
R6684:Or5p79	UTSW	7	108,221,141 (GRCm39)	missense	probably damaging	0.98
R7531:Or5p79	UTSW	7	108,221,269 (GRCm39)	missense	probably benign	0.06
R7555:Or5p79	UTSW	7	108,221,933 (GRCm39)	missense	probably damaging	1.00
R7893:Or5p79	UTSW	7	108,221,844 (GRCm39)	missense	probably damaging	1.00
R8415:Or5p79	UTSW	7	108,221,163 (GRCm39)	missense	probably damaging	1.00
R8444:Or5p79	UTSW	7	108,221,027 (GRCm39)	missense	probably benign	0.00
R8904:Or5p79	UTSW	7	108,221,919 (GRCm39)	missense	probably damaging	0.98
R9635:Or5p79	UTSW	7	108,221,654 (GRCm39)	missense	probably benign	0.00
R9795:Or5p79	UTSW	7	108,221,869 (GRCm39)	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- AGTGAGTGTTTGATGTACTACCC -3'
(R):5'- GACAAGCATATTGGGTGTGAC -3'

Sequencing Primer
(F):5'- AGTGTTTGATGTACTACCCAATTATG -3'
(R):5'- TGACAGAAGATGAAATGCCTATGTC -3'

Posted On

2015-07-06