Mutagenetix > Incidental Mutations

Incidental Mutation 'R3713:Olfr1184'

259715

Institutional Source

Beutler Lab

Gene Symbol

Olfr1184

Ensembl Gene

ENSMUSG00000051424

Gene Name

olfactory receptor 1184

Synonyms

GA_x6K02T2Q125-49974190-49975125, MOR225-3

MMRRC Submission

040706-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R3713 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88483598-88489284 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 88487443 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 237 (T237N)

Ref Sequence

ENSEMBL: ENSMUSP00000149649 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050038] [ENSMUST00000216675]

Predicted Effect

probably damaging
Transcript: ENSMUST00000050038
AA Change: T237N

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

SMART Domains

Protein: ENSMUSP00000058679
Gene: ENSMUSG00000051424
AA Change: T237N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	2.2e-47	PFAM
Pfam:7tm_1	39	285	2.3e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216675
AA Change: T237N

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (67/67)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	T	C	16: 88,627,193	M137V	probably benign	Het
Aak1	T	A	6: 86,955,190	I381N	probably benign	Het
Abcd4	C	T	12: 84,611,759	M223I	probably benign	Het
Adgrf2	A	G	17: 42,713,088	V164A	probably damaging	Het
Ahdc1	G	A	4: 133,065,986	A1513T	possibly damaging	Het
Akap13	T	C	7: 75,586,181	M168T	probably damaging	Het
Aox1	C	T	1: 58,056,215	T196I	probably benign	Het
Aqr	A	G	2: 114,118,669		probably benign	Het
Astn1	A	G	1: 158,667,532	E1042G	possibly damaging	Het
Azi2	A	G	9: 118,047,440	D8G	possibly damaging	Het
Bcam	T	C	7: 19,764,193	T302A	probably benign	Het
Cct6b	A	T	11: 82,760,357	I110N	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Ceacam5	G	A	7: 17,759,338	S762N	possibly damaging	Het
Cecr2	T	C	6: 120,758,260	L819P	probably damaging	Het
Cers3	G	T	7: 66,786,075	A261S	probably benign	Het
Chd2	A	G	7: 73,471,790		probably benign	Het
Col7a1	G	T	9: 108,964,440	G1357*	probably null	Het
Cux1	A	G	5: 136,565,543		probably benign	Het
Cwh43	A	T	5: 73,438,492	I535F	probably damaging	Het
Dexi	A	T	16: 10,542,689	M1K	probably null	Het
Dnah12	T	C	14: 26,812,790	V2081A	probably benign	Het
Efcab5	A	T	11: 77,116,182	L872Q	probably damaging	Het
Enpp7	A	G	11: 118,990,518	Y163C	probably damaging	Het
Fam221a	T	C	6: 49,372,614	Y38H	probably damaging	Het
Foxred1	A	G	9: 35,210,890	M1T	probably null	Het
Fscn3	C	T	6: 28,428,092	T26I	possibly damaging	Het
Galp	A	T	7: 6,213,837	D72V	probably damaging	Het
Gm9843	A	G	16: 76,403,531		noncoding transcript	Het
Grm7	G	T	6: 110,646,348	V161F	probably damaging	Het
Lmbrd1	T	C	1: 24,692,995	Y98H	probably damaging	Het
Lrrc63	T	G	14: 75,107,336	Y437S	probably benign	Het
Macc1	A	G	12: 119,446,841	E448G	probably benign	Het
Madcam1	A	G	10: 79,668,360	H404R	probably benign	Het
Mink1	G	T	11: 70,608,950	R773L	possibly damaging	Het
Mroh2b	A	G	15: 4,943,649	I1045V	probably benign	Het
Mroh3	T	C	1: 136,185,976	T692A	probably benign	Het
Myo15	A	T	11: 60,479,231	E939V	possibly damaging	Het
Naip2	A	G	13: 100,161,902	F542S	probably damaging	Het
Napsa	A	G	7: 44,581,428	Y73C	probably damaging	Het
Ndst4	A	T	3: 125,561,505	H354L	possibly damaging	Het
Neil1	A	T	9: 57,146,970	V22E	probably damaging	Het
Nol4	T	C	18: 23,039,937	I36V	probably damaging	Het
Nprl3	G	A	11: 32,255,464	T111I	probably damaging	Het
Olfr361	A	G	2: 37,085,505	M81T	possibly damaging	Het
Olfr385	A	T	11: 73,588,905	Y278N	probably damaging	Het
Pald1	G	A	10: 61,342,365	T624I	possibly damaging	Het
Pcdhb13	C	T	18: 37,443,733	P388L	probably damaging	Het
Pcdhga6	T	C	18: 37,707,923	V232A	probably damaging	Het
Pde6b	A	G	5: 108,423,062	I388V	probably damaging	Het
Phactr2	C	A	10: 13,388,732		probably benign	Het
Prdx5	T	C	19: 6,908,109	D56G	probably damaging	Het
Ptprh	A	T	7: 4,571,970	I350N	probably damaging	Het
Rangap1	C	A	15: 81,710,460	E389D	probably benign	Het
Reln	A	G	5: 21,904,734	V3126A	probably damaging	Het
Rpl21	G	A	5: 146,835,037	G59S	possibly damaging	Het
Rsph6a	G	A	7: 19,057,550	V215M	probably damaging	Het
Smcp	T	C	3: 92,584,124	K139E	unknown	Het
Stag1	A	G	9: 100,889,618	T699A	probably benign	Het
Tarsl2	G	A	7: 65,688,952		probably null	Het
Tle1	G	T	4: 72,126,422	H459Q	possibly damaging	Het
Ttn	G	A	2: 76,731,019	P27302S	probably damaging	Het
Ttn	C	T	2: 76,741,266	V26428I	probably damaging	Het
Usp53	T	C	3: 122,949,319	E656G	probably benign	Het
Vmn1r218	A	T	13: 23,136,911	N63Y	probably damaging	Het
Vmn1r79	A	G	7: 12,176,212	N40S	possibly damaging	Het
Wdr35	A	G	12: 9,027,648	D1107G	possibly damaging	Het
Zfp101	A	G	17: 33,381,906	M292T	probably benign	Het
Zfp108	T	A	7: 24,261,845	C620*	probably null	Het
Zscan4b	T	C	7: 10,901,891	T170A	probably benign	Het

Other mutations in Olfr1184

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01286:Olfr1184	APN	2	88487248	missense	probably damaging	1.00
IGL01288:Olfr1184	APN	2	88487248	missense	probably damaging	1.00
IGL01790:Olfr1184	APN	2	88486926	missense	possibly damaging	0.65
IGL02070:Olfr1184	APN	2	88487002	missense	probably damaging	1.00
IGL02247:Olfr1184	APN	2	88487427	missense	probably benign	0.00
IGL02932:Olfr1184	APN	2	88487175	missense	probably benign	0.01
IGL02997:Olfr1184	APN	2	88487388	missense	probably damaging	0.99
IGL03161:Olfr1184	APN	2	88487448	missense	probably benign	0.01
PIT4531001:Olfr1184	UTSW	2	88487257	missense	possibly damaging	0.95
R3715:Olfr1184	UTSW	2	88487443	missense	probably damaging	1.00
R4421:Olfr1184	UTSW	2	88487241	missense	probably damaging	1.00
R4514:Olfr1184	UTSW	2	88487365	missense	probably benign	0.05
R5096:Olfr1184	UTSW	2	88487302	missense	possibly damaging	0.89
R5661:Olfr1184	UTSW	2	88487097	missense	probably damaging	0.98
R5851:Olfr1184	UTSW	2	88486860	missense	possibly damaging	0.54
R6458:Olfr1184	UTSW	2	88487218	missense	possibly damaging	0.90
R7073:Olfr1184	UTSW	2	88487307	missense	probably benign	0.00
R7102:Olfr1184	UTSW	2	88487148	missense	probably damaging	1.00
R7145:Olfr1184	UTSW	2	88487377	missense	probably damaging	1.00
R7221:Olfr1184	UTSW	2	88487629	missense	probably damaging	0.97
X0063:Olfr1184	UTSW	2	88487490	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- TCCCTTTGCTGAAAGTTGCC -3'
(R):5'- TAGTCACCATTGCATCACCC -3'

Sequencing Primer
(F):5'- TGAAAGTTGCCTGTACCGAC -3'
(R):5'- CTCTTCTGAAAACATGTTTTGACACC -3'

Posted On

2015-01-23