Mutagenetix > Incidental Mutation

Incidental Mutation 'R6283:Or5d46'

508031

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

044453-MU

Accession Numbers

Essential gene?

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

Stock #

R6283 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88169911-88170858 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88170002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 31 (I31N)

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: I31N

PolyPhen 2 Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000053353
Gene: ENSMUSG00000050023
AA Change: I31N

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: I31N

PolyPhen 2 Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000216713

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

100% (59/59)

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
Acsf3	C	A	8: 123,512,694 (GRCm39)	R372S	probably damaging	Het
Adamts20	A	G	15: 94,249,602 (GRCm39)	S472P	probably benign	Het
Bhlhe40	T	C	6: 108,641,992 (GRCm39)	L312P	probably damaging	Het
Ccdc180	A	G	4: 45,902,486 (GRCm39)	E305G	possibly damaging	Het
Ccdc83	T	A	7: 89,885,615 (GRCm39)	R257*	probably null	Het
Cd209e	G	A	8: 3,899,212 (GRCm39)	Q167*	probably null	Het
Cd300e	G	A	11: 114,945,380 (GRCm39)	T138I	probably benign	Het
Ces2c	A	T	8: 105,576,331 (GRCm39)	M115L	probably benign	Het
Cfap61	T	A	2: 145,971,022 (GRCm39)		probably null	Het
Chd1l	G	A	3: 97,494,483 (GRCm39)	A399V	probably damaging	Het
Cic	C	T	7: 24,985,459 (GRCm39)	S301L	probably damaging	Het
Cks2	A	G	13: 51,799,495 (GRCm39)	H16R	probably benign	Het
Copa	A	T	1: 171,946,415 (GRCm39)	H953L	possibly damaging	Het
Ctdsp2	T	C	10: 126,831,749 (GRCm39)	V145A	possibly damaging	Het
Cyp2j13	A	G	4: 95,945,074 (GRCm39)	V377A	possibly damaging	Het
Dhx57	A	G	17: 80,582,234 (GRCm39)	V404A	probably benign	Het
Dock2	T	C	11: 34,598,152 (GRCm39)	S340G	probably damaging	Het
Ggps1	A	G	13: 14,232,379 (GRCm39)		probably null	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm11444	T	C	11: 85,737,617 (GRCm39)		probably null	Het
Grina	A	G	15: 76,132,751 (GRCm39)	T173A	possibly damaging	Het
Hcrtr1	G	A	4: 130,029,133 (GRCm39)	T223I	probably benign	Het
Igsf10	T	A	3: 59,226,870 (GRCm39)	T2268S	probably damaging	Het
Inhca	G	A	9: 103,159,834 (GRCm39)	R14*	probably null	Het
Ino80d	C	T	1: 63,101,285 (GRCm39)	R447Q	probably damaging	Het
Inpp4b	C	T	8: 82,497,462 (GRCm39)	T94M	probably damaging	Het
Itga2	A	G	13: 115,005,786 (GRCm39)	Y465H	probably damaging	Het
Knl1	A	G	2: 118,900,767 (GRCm39)	T823A	probably damaging	Het
Krtap4-16	A	G	11: 99,741,861 (GRCm39)	S180P	unknown	Het
Ldc1	A	G	4: 130,115,534 (GRCm39)	S5P	probably benign	Het
Lpar6	A	T	14: 73,476,297 (GRCm39)	D86V	probably damaging	Het
Muc5ac	C	A	7: 141,370,601 (GRCm39)	C2500*	probably null	Het
Mzf1	T	C	7: 12,787,296 (GRCm39)		probably benign	Het
Or4f58	A	C	2: 111,851,605 (GRCm39)	M198R	possibly damaging	Het
Or5m3	G	T	2: 85,838,443 (GRCm39)	V108L	possibly damaging	Het
Or7a36	T	C	10: 78,820,113 (GRCm39)	V163A	probably benign	Het
Otogl	T	G	10: 107,626,361 (GRCm39)	E1501A	probably damaging	Het
Pcdh10	T	A	3: 45,335,989 (GRCm39)	S768T	possibly damaging	Het
Pcnx2	G	T	8: 126,604,325 (GRCm39)	Q644K	probably damaging	Het
Pdzd9	T	A	7: 120,259,449 (GRCm39)	I180F	possibly damaging	Het
Pinx1	A	C	14: 64,115,621 (GRCm39)	N152T	probably benign	Het
Prr14l	T	C	5: 32,987,608 (GRCm39)	E629G	probably benign	Het
Qpctl	T	A	7: 18,882,345 (GRCm39)	I104F	probably benign	Het
Rabep1	C	T	11: 70,808,505 (GRCm39)	A444V	probably damaging	Het
Rnf150	A	G	8: 83,717,183 (GRCm39)	Y230C	probably damaging	Het
Slc25a27	A	C	17: 43,968,621 (GRCm39)	V152G	probably damaging	Het
Swt1	A	G	1: 151,260,084 (GRCm39)	S772P	possibly damaging	Het
Tenm4	A	G	7: 96,523,701 (GRCm39)	T1711A	probably benign	Het
Tfap2d	G	C	1: 19,174,702 (GRCm39)	G52R	probably benign	Het
Tmem265	T	G	7: 127,164,044 (GRCm39)	V86G	possibly damaging	Het
Trpm8	C	T	1: 88,276,054 (GRCm39)	H551Y	probably benign	Het
Ttc6	T	G	12: 57,749,048 (GRCm39)	Y1327D	possibly damaging	Het
Uevld	G	T	7: 46,587,729 (GRCm39)	Q324K	possibly damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r73	C	T	7: 85,521,049 (GRCm39)	M306I	probably benign	Het
Vmn2r93	T	A	17: 18,524,366 (GRCm39)	M120K	probably benign	Het
Zfp804b	T	A	5: 6,819,908 (GRCm39)	I1016F	probably benign	Het
Zfp90	T	C	8: 107,152,026 (GRCm39)	C580R	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
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
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'- TGAAATATCTGTTGGCATGTGC -3'
(R):5'- ATGGATCTGTCCTCTGTTATCAG -3'

Sequencing Primer
(F):5'- AATATCTGTTGGCATGTGCTATATC -3'
(R):5'- GAAGGTCTAACAGTTTTGGGGCAATC -3'

Posted On

2018-03-15