Mutagenetix > Incidental Mutation

Incidental Mutation 'R3806:Or5d18'

274577

Institutional Source

Beutler Lab

Gene Symbol

Or5d18

Ensembl Gene

ENSMUSG00000075140

Gene Name

olfactory receptor family 5 subfamily D member 18

Synonyms

MOR174-9, GA_x6K02T2Q125-49527073-49526132, mOR-EG, Olfr73

MMRRC Submission

040763-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.589) question?

Stock #

R3806 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87864540-87865481 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87864911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 191 (S191P)

Ref Sequence

ENSEMBL: ENSMUSP00000149472 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099838] [ENSMUST00000129056]

AlphaFold

Q920P2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099838
AA Change: S191P

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000097426
Gene: ENSMUSG00000075140
AA Change: S191P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	309	6e-48	PFAM
Pfam:7tm_1	42	291	6.1e-13	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000129056
AA Change: S191P

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Akap9	A	G	5: 4,004,410 (GRCm39)	N108S	probably benign	Het
Ankmy1	A	G	1: 92,811,480 (GRCm39)	I636T	possibly damaging	Het
Bbs9	T	A	9: 22,798,926 (GRCm39)	D851E	probably damaging	Het
Bicd1	T	A	6: 149,420,489 (GRCm39)	L780M	probably damaging	Het
Ccdc175	T	C	12: 72,227,598 (GRCm39)	T62A	possibly damaging	Het
Cfhr4	T	A	1: 139,680,773 (GRCm39)	K248N	probably damaging	Het
Clcnka	T	C	4: 141,114,601 (GRCm39)	E615G	probably null	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cpxm2	C	T	7: 131,681,820 (GRCm39)	M236I	probably benign	Het
Dhrs2	A	T	14: 55,472,205 (GRCm39)	N32I	probably benign	Het
Fam131a	G	A	16: 20,514,608 (GRCm39)	V70M	probably benign	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fbxl15	G	C	19: 46,317,891 (GRCm39)	R191P	possibly damaging	Het
Fcrlb	T	C	1: 170,735,183 (GRCm39)	T315A	probably benign	Het
Fer1l4	C	T	2: 155,887,603 (GRCm39)	G531D	probably damaging	Het
Gem	C	T	4: 11,705,965 (GRCm39)	Q18*	probably null	Het
Hemk1	T	A	9: 107,214,229 (GRCm39)	I68F	probably damaging	Het
Herc3	C	A	6: 58,893,835 (GRCm39)	H970Q	probably damaging	Het
Ighv5-17	C	A	12: 113,822,918 (GRCm39)	A68S	probably benign	Het
Ip6k3	T	C	17: 27,363,974 (GRCm39)	H358R	probably damaging	Het
Itpr2	T	C	6: 146,133,789 (GRCm39)		probably null	Het
Kmt2a	C	T	9: 44,731,653 (GRCm39)		probably benign	Het
Krt16	G	T	11: 100,139,566 (GRCm39)	R51S	unknown	Het
Lamtor1	G	A	7: 101,560,552 (GRCm39)	V156I	probably damaging	Het
Lingo4	A	G	3: 94,309,407 (GRCm39)	D115G	probably damaging	Het
Lrrc7	T	C	3: 157,891,130 (GRCm39)	I346V	probably benign	Het
Maco1	C	T	4: 134,557,891 (GRCm39)	M207I	probably benign	Het
Man1c1	A	T	4: 134,430,662 (GRCm39)	L40Q	probably damaging	Het
Mgat4c	A	G	10: 102,224,221 (GRCm39)	N145S	probably benign	Het
Morf4l1	A	G	9: 89,977,196 (GRCm39)	S203P	probably benign	Het
Muc5ac	T	C	7: 141,367,471 (GRCm39)	I2964T	possibly damaging	Het
Naip2	T	A	13: 100,289,142 (GRCm39)	Q1196L	possibly damaging	Het
Nbas	G	A	12: 13,532,505 (GRCm39)	G1738S	probably damaging	Het
Nlrp5	A	G	7: 23,104,271 (GRCm39)	E44G	probably benign	Het
Nolc1	CCAGCAGCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,069,791 (GRCm39)		probably benign	Het
Or4ac1-ps1	A	T	2: 88,370,700 (GRCm39)		noncoding transcript	Het
Otof	T	A	5: 30,543,843 (GRCm39)		probably null	Het
Pcdha2	G	A	18: 37,072,582 (GRCm39)	R71H	probably benign	Het
Pcdha2	G	T	18: 37,074,744 (GRCm39)	E792*	probably null	Het
Pcnx1	A	G	12: 81,996,911 (GRCm39)	T936A	possibly damaging	Het
Pofut2	T	C	10: 77,096,640 (GRCm39)	Y122H	probably damaging	Het
Psg16	A	G	7: 16,824,609 (GRCm39)	E131G	probably benign	Het
Psmd12	T	G	11: 107,386,591 (GRCm39)	D387E	probably benign	Het
Rab6a	A	G	7: 100,257,431 (GRCm39)	M1V	probably null	Het
Ripk3	T	C	14: 56,023,725 (GRCm39)	R29G	probably benign	Het
Robo4	A	T	9: 37,315,734 (GRCm39)	D329V	possibly damaging	Het
Ruvbl2	A	G	7: 45,071,614 (GRCm39)	V423A	possibly damaging	Het
Rxylt1	A	T	10: 121,917,514 (GRCm39)	V333E	possibly damaging	Het
Scgb2b18	T	G	7: 32,872,563 (GRCm39)	M81L	probably benign	Het
Slc24a2	A	T	4: 87,146,021 (GRCm39)	L11H	possibly damaging	Het
Slc4a1	T	C	11: 102,248,019 (GRCm39)	E325G	probably benign	Het
Syt16	A	G	12: 74,276,172 (GRCm39)	E212G	possibly damaging	Het
Them6	A	G	15: 74,593,367 (GRCm39)	D75G	probably damaging	Het
Tnrc18	G	A	5: 142,773,029 (GRCm39)	A417V	unknown	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Zbtb22	C	T	17: 34,135,920 (GRCm39)		probably benign	Het
Zfp235	A	G	7: 23,840,046 (GRCm39)	D225G	probably benign	Het

Other mutations in Or5d18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03137:Or5d18	APN	2	87,864,754 (GRCm39)	missense	probably benign	0.44
IGL03377:Or5d18	APN	2	87,864,589 (GRCm39)	missense	probably damaging	1.00
PIT4260001:Or5d18	UTSW	2	87,865,126 (GRCm39)	missense	probably damaging	1.00
R0013:Or5d18	UTSW	2	87,864,610 (GRCm39)	missense	possibly damaging	0.78
R0969:Or5d18	UTSW	2	87,864,592 (GRCm39)	missense	probably damaging	0.99
R1216:Or5d18	UTSW	2	87,864,602 (GRCm39)	missense	probably damaging	0.99
R2148:Or5d18	UTSW	2	87,864,943 (GRCm39)	missense	probably damaging	0.99
R2355:Or5d18	UTSW	2	87,865,379 (GRCm39)	missense	probably damaging	0.97
R2357:Or5d18	UTSW	2	87,865,028 (GRCm39)	missense	probably damaging	1.00
R2994:Or5d18	UTSW	2	87,865,301 (GRCm39)	missense	probably damaging	1.00
R4618:Or5d18	UTSW	2	87,864,898 (GRCm39)	missense	probably benign	0.19
R4975:Or5d18	UTSW	2	87,865,005 (GRCm39)	missense	probably benign	0.09
R5753:Or5d18	UTSW	2	87,864,920 (GRCm39)	missense	probably damaging	1.00
R6795:Or5d18	UTSW	2	87,864,668 (GRCm39)	missense	probably benign	0.02
R8982:Or5d18	UTSW	2	87,864,613 (GRCm39)	missense	probably damaging	1.00
R9151:Or5d18	UTSW	2	87,864,697 (GRCm39)	missense	probably damaging	0.99
Z1190:Or5d18	UTSW	2	87,865,007 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTTTTACGGTATGCCTGGAGTTC -3'
(R):5'- TCTACACAGTGGCCATGTCC -3'

Sequencing Primer
(F):5'- CCATGGAAGATGGTTATAGCTGTCAG -3'
(R):5'- ATGTCCCAGAGGCTCTGTG -3'

Posted On

2015-04-02