Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03069:Or5d46'

409807

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or5d46

Ensembl Gene

ENSMUSG00000050023

Gene Name

olfactory receptor family 5 subfamily D member 46

Synonyms

Olfr1176, MOR174-5, GA_x6K02T2Q125-49824309-49825256

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

IGL03069

Quality Score

Status

Chromosome

Chromosomal Location

88169911-88170858 bp(+) (GRCm39)

Type of Mutation

splice site (1833 bp from exon)

DNA Base Change (assembly)

C to T at 88170643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153831 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057439] [ENSMUST00000137895] [ENSMUST00000213778] [ENSMUST00000216713]

AlphaFold

Q8VG40

Predicted Effect

probably damaging
Transcript: ENSMUST00000057439
AA Change: H245Y

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

SMART Domains

Protein: ENSMUSP00000053353
Gene: ENSMUSG00000050023
AA Change: H245Y

Domain	Start	End	E-Value	Type
low complexity region	10	18	N/A	INTRINSIC
Pfam:7tm_4	32	309	5.3e-46	PFAM
Pfam:7tm_1	42	291	4.1e-15	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000137895

Predicted Effect

probably damaging
Transcript: ENSMUST00000213778
AA Change: H245Y

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

Predicted Effect

probably null
Transcript: ENSMUST00000216713

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	G	8: 13,607,704 (GRCm39)		probably null	Het
Acp3	T	C	9: 104,197,204 (GRCm39)	E145G	possibly damaging	Het
Ankrd28	T	A	14: 31,477,743 (GRCm39)	K42*	probably null	Het
Arsg	A	T	11: 109,454,082 (GRCm39)	K429N	probably damaging	Het
Bsn	G	A	9: 107,991,462 (GRCm39)	T1430I	probably damaging	Het
Calu	A	G	6: 29,356,582 (GRCm39)	D36G	possibly damaging	Het
Ccdc18	T	C	5: 108,376,767 (GRCm39)	S1403P	probably damaging	Het
Cdca2	A	G	14: 67,952,385 (GRCm39)		probably benign	Het
Cfh	C	A	1: 140,026,793 (GRCm39)		probably benign	Het
Cyp2c69	C	T	19: 39,869,537 (GRCm39)	G161S	probably benign	Het
Dennd4c	C	A	4: 86,692,674 (GRCm39)	Y61*	probably null	Het
Diaph3	A	G	14: 87,009,555 (GRCm39)	S1075P	probably damaging	Het
Dpp7	T	A	2: 25,245,735 (GRCm39)		probably null	Het
Dtd1	T	A	2: 144,588,981 (GRCm39)		probably benign	Het
Dtl	C	A	1: 191,289,008 (GRCm39)		probably benign	Het
Exoc3l4	A	G	12: 111,390,457 (GRCm39)	D344G	probably damaging	Het
Hsp90ab1	A	T	17: 45,879,954 (GRCm39)	C159S	possibly damaging	Het
Kcnip2	T	C	19: 45,784,710 (GRCm39)		probably benign	Het
Krba1	A	G	6: 48,391,483 (GRCm39)	T755A	possibly damaging	Het
L2hgdh	C	T	12: 69,739,173 (GRCm39)	V433I	probably benign	Het
Lamc1	A	T	1: 153,115,127 (GRCm39)	L1050I	probably damaging	Het
Lgals4	A	T	7: 28,540,343 (GRCm39)	I213L	probably benign	Het
Lysmd1	A	G	3: 95,044,945 (GRCm39)	I64V	probably damaging	Het
Mfsd4b4	A	C	10: 39,768,311 (GRCm39)	C261G	probably benign	Het
Mrgprb3	T	A	7: 48,293,198 (GRCm39)	I118F	possibly damaging	Het
Mtmr2	T	A	9: 13,704,501 (GRCm39)	Y137*	probably null	Het
Ofcc1	A	T	13: 40,226,140 (GRCm39)	H797Q	probably benign	Het
Omd	A	T	13: 49,745,870 (GRCm39)		probably benign	Het
Or8g21	A	T	9: 38,906,728 (GRCm39)	M1K	probably null	Het
Polr3a	T	A	14: 24,511,808 (GRCm39)	D916V	probably damaging	Het
Prpf38a	T	C	4: 108,432,628 (GRCm39)	Y117C	probably damaging	Het
Scn11a	C	T	9: 119,619,029 (GRCm39)	G771D	probably benign	Het
Smarca4	C	T	9: 21,547,132 (GRCm39)	T219I	probably benign	Het
Snx1	T	A	9: 66,001,906 (GRCm39)	I306F	probably benign	Het
Snx31	T	A	15: 36,525,749 (GRCm39)	R317*	probably null	Het
Sorl1	T	C	9: 41,902,722 (GRCm39)	T1612A	probably benign	Het
Spag1	G	T	15: 36,224,245 (GRCm39)		probably benign	Het
Stambp	A	G	6: 83,538,914 (GRCm39)	F162S	probably damaging	Het
Tkfc	T	A	19: 10,576,518 (GRCm39)	M122L	probably benign	Het
Tnni3k	T	A	3: 154,647,242 (GRCm39)		probably null	Het
Trim56	T	C	5: 137,142,616 (GRCm39)	Q300R	probably damaging	Het
Ttc24	T	A	3: 87,977,408 (GRCm39)	T113S	probably benign	Het
Xirp2	A	T	2: 67,339,876 (GRCm39)	T706S	possibly damaging	Het
Yipf5	T	A	18: 40,339,290 (GRCm39)		probably benign	Het
Zfp202	T	C	9: 40,122,695 (GRCm39)	S486P	probably damaging	Het
Zfp407	A	G	18: 84,369,100 (GRCm39)	S1676P	probably damaging	Het
Znrd2	G	T	19: 5,780,450 (GRCm39)	L183I	possibly damaging	Het

Other mutations in Or5d46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01736:Or5d46	APN	2	88,170,771 (GRCm39)	missense	probably damaging	1.00
IGL02166:Or5d46	APN	2	88,170,022 (GRCm39)	missense	probably damaging	0.97
IGL02340:Or5d46	APN	2	88,169,906 (GRCm39)	unclassified	probably benign
IGL02598:Or5d46	APN	2	88,170,595 (GRCm39)	missense	possibly damaging	0.64
IGL03212:Or5d46	APN	2	88,170,016 (GRCm39)	missense	probably damaging	1.00
R1959:Or5d46	UTSW	2	88,170,545 (GRCm39)	missense	probably damaging	1.00
R1960:Or5d46	UTSW	2	88,170,545 (GRCm39)	missense	probably damaging	1.00
R2907:Or5d46	UTSW	2	88,170,827 (GRCm39)	missense	probably benign	0.11
R2908:Or5d46	UTSW	2	88,170,827 (GRCm39)	missense	probably benign	0.11
R4049:Or5d46	UTSW	2	88,174,144 (GRCm39)	splice site	probably null
R4257:Or5d46	UTSW	2	88,170,621 (GRCm39)	missense	probably damaging	1.00
R4823:Or5d46	UTSW	2	88,170,179 (GRCm39)	missense	probably damaging	0.96
R4897:Or5d46	UTSW	2	88,174,686 (GRCm39)	missense	possibly damaging	0.89
R5106:Or5d46	UTSW	2	88,170,454 (GRCm39)	missense	probably benign	0.07
R5192:Or5d46	UTSW	2	88,170,092 (GRCm39)	missense	possibly damaging	0.94
R5196:Or5d46	UTSW	2	88,170,092 (GRCm39)	missense	possibly damaging	0.94
R5331:Or5d46	UTSW	2	88,170,332 (GRCm39)	missense	probably damaging	1.00
R5579:Or5d46	UTSW	2	88,170,757 (GRCm39)	missense	possibly damaging	0.83
R6283:Or5d46	UTSW	2	88,170,002 (GRCm39)	missense	probably benign	0.33
R6702:Or5d46	UTSW	2	88,170,586 (GRCm39)	missense	probably benign	0.02
R8155:Or5d46	UTSW	2	88,170,296 (GRCm39)	missense	probably damaging	0.98
R8904:Or5d46	UTSW	2	88,169,949 (GRCm39)	missense	possibly damaging	0.82
R9094:Or5d46	UTSW	2	88,170,248 (GRCm39)	missense	probably benign	0.00
R9443:Or5d46	UTSW	2	88,170,364 (GRCm39)	missense	probably damaging	1.00
R9598:Or5d46	UTSW	2	88,170,821 (GRCm39)	missense	possibly damaging	0.88
R9719:Or5d46	UTSW	2	88,169,928 (GRCm39)	missense

Posted On

2016-08-02