Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03377:Or5d18'

420519

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.572) question?

Stock #

IGL03377

Quality Score

Status

Chromosome

Chromosomal Location

87864540-87865481 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87864589 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 298 (V298D)

Ref Sequence

ENSEMBL: ENSMUSP00000149472 (fasta)

Gene Model

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

AlphaFold

Q920P2

Predicted Effect

probably damaging
Transcript: ENSMUST00000099838
AA Change: V298D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097426
Gene: ENSMUSG00000075140
AA Change: V298D

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

probably damaging
Transcript: ENSMUST00000129056
AA Change: V298D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	T	A	5: 105,096,256 (GRCm39)	I489L	probably benign	Het
Acox3	T	C	5: 35,751,676 (GRCm39)	L237P	probably damaging	Het
Ahi1	T	G	10: 20,893,903 (GRCm39)	I878S	possibly damaging	Het
Alox15	T	A	11: 70,240,488 (GRCm39)	Y231F	probably damaging	Het
Asxl1	A	T	2: 153,238,700 (GRCm39)	K342M	probably damaging	Het
Atl2	T	C	17: 80,172,519 (GRCm39)	I150M	probably damaging	Het
Bag6	T	C	17: 35,363,958 (GRCm39)	Y822H	probably damaging	Het
Ccdc171	T	C	4: 83,581,754 (GRCm39)	Y628H	probably damaging	Het
Ceacam5	T	A	7: 17,449,056 (GRCm39)	Y141N	probably benign	Het
Ces1a	A	G	8: 93,766,116 (GRCm39)	V166A	probably damaging	Het
Chrdl2	G	A	7: 99,671,259 (GRCm39)	A126T	probably benign	Het
Cyp2d26	T	C	15: 82,674,755 (GRCm39)	E409G	possibly damaging	Het
Dicer1	T	C	12: 104,678,456 (GRCm39)	I621V	probably damaging	Het
Enpp1	T	A	10: 24,536,181 (GRCm39)		probably null	Het
Epha2	T	A	4: 141,049,723 (GRCm39)	S776R	probably benign	Het
Fam107b	A	T	2: 3,779,481 (GRCm39)	E52V	probably damaging	Het
Fam169a	A	G	13: 97,228,381 (GRCm39)	N18S	probably benign	Het
Fbxw21	A	T	9: 108,968,597 (GRCm39)	F460I	probably benign	Het
Fgfr2	A	T	7: 129,800,247 (GRCm39)	I329N	probably damaging	Het
Fndc7	T	C	3: 108,783,848 (GRCm39)	S254G	probably benign	Het
Glis1	T	G	4: 107,489,478 (GRCm39)	H688Q	probably damaging	Het
Grip1	A	G	10: 119,890,937 (GRCm39)	E898G	probably damaging	Het
Gtf2a1l	T	A	17: 89,019,021 (GRCm39)	D368E	probably benign	Het
Gucy1a1	T	A	3: 82,013,322 (GRCm39)	H440L	probably damaging	Het
H2-M10.5	A	T	17: 37,084,377 (GRCm39)	D113V	probably benign	Het
Hook2	G	T	8: 85,727,964 (GRCm39)	E554*	probably null	Het
Itpr2	T	A	6: 146,231,256 (GRCm39)	T1135S	probably benign	Het
Itpr2	A	C	6: 146,231,213 (GRCm39)	V1182G	probably damaging	Het
Kdm4c	T	C	4: 74,189,492 (GRCm39)	I69T	possibly damaging	Het
Klhl31	A	T	9: 77,558,345 (GRCm39)	K354*	probably null	Het
Krt222	T	A	11: 99,127,339 (GRCm39)	K159*	probably null	Het
Loxhd1	A	G	18: 77,529,369 (GRCm39)	E2004G	possibly damaging	Het
Man2a2	A	T	7: 80,008,800 (GRCm39)		probably null	Het
Med24	A	G	11: 98,595,962 (GRCm39)	F963L	possibly damaging	Het
Mphosph8	A	G	14: 56,930,943 (GRCm39)	E744G	probably damaging	Het
Mypn	A	G	10: 63,028,644 (GRCm39)	S140P	probably benign	Het
Npc1	A	G	18: 12,344,878 (GRCm39)	F331L	probably benign	Het
Obscn	C	A	11: 58,890,699 (GRCm39)	G1798W	probably damaging	Het
Patj	C	T	4: 98,353,341 (GRCm39)	P110L	probably damaging	Het
Pkhd1l1	T	G	15: 44,347,747 (GRCm39)		probably null	Het
Prdm5	A	G	6: 65,836,457 (GRCm39)	H256R	possibly damaging	Het
Ralgps1	A	G	2: 33,062,473 (GRCm39)	Y267H	probably damaging	Het
Rfpl4	T	G	7: 5,113,464 (GRCm39)	Y239S	probably damaging	Het
Rnpepl1	A	T	1: 92,846,953 (GRCm39)	M592L	probably benign	Het
Serpinc1	A	T	1: 160,821,012 (GRCm39)	H32L	probably damaging	Het
Skint5	T	A	4: 113,620,735 (GRCm39)	T660S	unknown	Het
Slc26a2	T	C	18: 61,331,658 (GRCm39)	N591S	probably damaging	Het
Slc9b2	C	T	3: 135,042,119 (GRCm39)	A466V	probably damaging	Het
Slco1a5	T	A	6: 142,180,492 (GRCm39)	T637S	probably benign	Het
Snx25	A	G	8: 46,533,338 (GRCm39)		probably benign	Het
Szt2	T	C	4: 118,259,594 (GRCm39)		probably benign	Het
Vmn1r183	A	G	7: 23,754,817 (GRCm39)	M207V	possibly damaging	Het
Wdcp	T	G	12: 4,900,691 (GRCm39)	Y182*	probably null	Het
Zc3h13	A	G	14: 75,531,416 (GRCm39)	T105A	possibly damaging	Het
Zfp933	T	C	4: 147,913,168 (GRCm39)	K30R	possibly damaging	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
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
R3806:Or5d18	UTSW	2	87,864,911 (GRCm39)	missense	possibly damaging	0.60
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

Posted On

2016-08-02