Mutagenetix > Incidental Mutation

Incidental Mutation 'R5106:Or5d46'

392611

Institutional Source

Beutler Lab

Gene Symbol

Or5d46

Ensembl Gene

ENSMUSG00000050023

Gene Name

olfactory receptor family 5 subfamily D member 46

Synonyms

Olfr1176, MOR174-5, GA_x6K02T2Q125-49824309-49825256

MMRRC Submission

042694-MU

Accession Numbers

Essential gene?

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

Stock #

R5106 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88169911-88170858 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88170454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 182 (Y182H)

Ref Sequence

ENSEMBL: ENSMUSP00000149943 (fasta)

Gene Model

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

AlphaFold

Q8VG40

Predicted Effect

probably benign
Transcript: ENSMUST00000057439
AA Change: Y182H

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000053353
Gene: ENSMUSG00000050023
AA Change: Y182H

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 benign
Transcript: ENSMUST00000137895

Predicted Effect

probably benign
Transcript: ENSMUST00000213778
AA Change: Y182H

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000216713

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.0%

Validation Efficiency

100% (62/62)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
C1qtnf2	G	A	11: 43,376,880 (GRCm39)	R84Q	possibly damaging	Het
Carmil2	T	A	8: 106,420,638 (GRCm39)		probably null	Het
Cenpf	A	T	1: 189,416,005 (GRCm39)	C107S	probably benign	Het
Cideb	T	C	14: 55,991,982 (GRCm39)	M191V	probably benign	Het
Cope	C	A	8: 70,763,097 (GRCm39)	R213S	possibly damaging	Het
Ctcf	T	C	8: 106,408,130 (GRCm39)		probably benign	Het
Daam2	T	C	17: 49,783,489 (GRCm39)	Y647C	probably damaging	Het
Dlg2	T	C	7: 92,091,894 (GRCm39)	Y920H	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Fdps	C	A	3: 89,006,710 (GRCm39)	R127L	probably damaging	Het
G6pd2	C	T	5: 61,967,695 (GRCm39)	T490I	probably benign	Het
Gm6401	A	G	14: 41,787,463 (GRCm39)	M121T	probably damaging	Het
Gnl2	T	C	4: 124,947,329 (GRCm39)		probably null	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Gtf2a1l	A	G	17: 89,002,073 (GRCm39)	S310G	possibly damaging	Het
Igdcc4	T	C	9: 65,031,983 (GRCm39)	F500L	probably damaging	Het
Lgr4	A	T	2: 109,827,940 (GRCm39)	H207L	probably damaging	Het
Llcfc1	A	G	6: 41,662,310 (GRCm39)	M105V	probably benign	Het
Macroh2a1	A	G	13: 56,236,106 (GRCm39)	V213A	possibly damaging	Het
Map2k3	A	G	11: 60,832,708 (GRCm39)	K18E	probably damaging	Het
Mccc1	T	A	3: 36,026,713 (GRCm39)	D528V	probably benign	Het
Nedd4l	C	T	18: 65,326,376 (GRCm39)	T568M	probably damaging	Het
Nr3c1	A	C	18: 39,619,654 (GRCm39)	I211S	possibly damaging	Het
Nudt5	C	T	2: 5,859,640 (GRCm39)		probably benign	Het
Or2ag20	T	A	7: 106,464,595 (GRCm39)	M136K	probably damaging	Het
Or6c202	T	C	10: 128,996,106 (GRCm39)	Y249C	probably damaging	Het
Or9k2b	A	T	10: 130,016,177 (GRCm39)	S191T	probably benign	Het
Pcid2	A	T	8: 13,129,648 (GRCm39)	F326I	probably damaging	Het
Pcnt	A	T	10: 76,237,278 (GRCm39)	I1336N	probably damaging	Het
Pomk	T	C	8: 26,476,404 (GRCm39)	D50G	probably benign	Het
Ppp2r2a	T	C	14: 67,260,546 (GRCm39)	Y244C	probably damaging	Het
Ptprz1	A	G	6: 23,000,027 (GRCm39)	T706A	probably benign	Het
Rad54l	G	A	4: 115,956,961 (GRCm39)		probably benign	Het
Raph1	T	C	1: 60,572,459 (GRCm39)	D36G	probably damaging	Het
Rgs7	A	G	1: 174,904,416 (GRCm39)	S166P	possibly damaging	Het
Rnf183	C	G	4: 62,346,465 (GRCm39)	R111P	probably damaging	Het
Rp1l1	A	T	14: 64,265,395 (GRCm39)	D327V	probably damaging	Het
Rpl3l	A	G	17: 24,951,411 (GRCm39)	Y156C	probably damaging	Het
Slc25a54	G	T	3: 109,020,180 (GRCm39)	C398F	probably benign	Het
Slc39a2	A	G	14: 52,132,988 (GRCm39)	*310W	probably null	Het
Slit3	T	C	11: 35,503,194 (GRCm39)	C464R	probably damaging	Het
Smu1	A	T	4: 40,743,104 (GRCm39)	F345I	possibly damaging	Het
Ssc5d	T	A	7: 4,939,664 (GRCm39)	V700E	probably benign	Het
Stxbp3	T	C	3: 108,702,243 (GRCm39)	Y521C	probably benign	Het
Tenm4	T	C	7: 96,492,356 (GRCm39)	S1061P	probably damaging	Het
Thoc5	T	C	11: 4,860,630 (GRCm39)	S103P	probably damaging	Het
Tmem221	A	G	8: 72,008,522 (GRCm39)	F173L	probably benign	Het
Trit1	T	C	4: 122,948,106 (GRCm39)		probably benign	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Vmn2r106	T	C	17: 20,499,395 (GRCm39)		probably null	Het
Vmn2r38	C	A	7: 9,078,169 (GRCm39)	V738L	possibly damaging	Het
Zfp160	T	A	17: 21,247,023 (GRCm39)	H524Q	probably damaging	Het
Zfp791	T	A	8: 85,837,259 (GRCm39)	K202*	probably null	Het
Zfp985	T	A	4: 147,668,612 (GRCm39)	S493R	probably damaging	Het
Zkscan7	T	C	9: 122,725,198 (GRCm39)		probably benign	Het
Zwilch	A	C	9: 64,060,866 (GRCm39)	F329V	probably 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
IGL03069:Or5d46	APN	2	88,170,643 (GRCm39)	splice site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- GCAGTAATGGCCTATGATCGC -3'
(R):5'- TCCCATGGCAGAAAGAGATG -3'

Sequencing Primer
(F):5'- ATCGCTTTGTGGCCATTTGTAAC -3'
(R):5'- CACAGGTGGACAAGGCTTTTTG -3'

Posted On

2016-06-15