Mutagenetix > Incidental Mutations

Incidental Mutation 'R7033:Olfr749'

546478

Institutional Source

Beutler Lab

Gene Symbol

Olfr749

Ensembl Gene

ENSMUSG00000059069

Gene Name

olfactory receptor 749

Synonyms

GA_x6K02T2PMLR-6484046-6483105, MOR106-1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R7033 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50736171-50745094 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50736707 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 152 (F152L)

Ref Sequence

ENSEMBL: ENSMUSP00000150627 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074674] [ENSMUST00000214290]

AlphaFold

E9Q438

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074674
AA Change: F152L

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000074242
Gene: ENSMUSG00000059069
AA Change: F152L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	5.2e-53	PFAM
Pfam:7tm_1	40	289	7.3e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214290
AA Change: F152L

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

96% (70/73)

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]
PHENOTYPE: A reporter allele shows expression of this olfactory receptor by embryonic day 15.5 and throughout olfactory development there is an increase in the numbers of expressing olfactory sensory neurons with expression localized to the dorsal main olfactory epithelium. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	A	G	14: 41,997,417	Y105C	probably damaging	Het
2610301B20Rik	A	G	4: 10,898,014	T199A	probably benign	Het
Acr	T	C	15: 89,569,500	S81P	probably benign	Het
Akr1c14	T	C	13: 4,079,178		probably null	Het
Ank2	C	A	3: 126,944,850	E2375*	probably null	Het
Avpi1	A	G	19: 42,124,977	W14R	probably damaging	Het
Brd4	A	G	17: 32,199,015	V55A	probably benign	Het
Casp8ap2	A	G	4: 32,639,392	N149D	probably damaging	Het
Ccl25	A	T	8: 4,349,641		probably benign	Het
Celf5	A	G	10: 81,462,714	L299P	probably damaging	Het
Cfap57	T	G	4: 118,613,126	T186P	possibly damaging	Het
Chrm4	A	G	2: 91,928,347	M367V	probably benign	Het
Col1a2	A	T	6: 4,516,904		probably benign	Het
Crybg3	G	A	16: 59,554,165	P2242L	probably damaging	Het
Cspg4	T	C	9: 56,888,074	V1031A	probably damaging	Het
Dbnl	C	A	11: 5,798,102	P313T	probably benign	Het
Dnah1	A	G	14: 31,264,925	F3637L	probably damaging	Het
Dnah7a	A	T	1: 53,479,661	I2979N	probably damaging	Het
Dusp10	T	C	1: 184,037,605	V256A	possibly damaging	Het
Erlin2	T	C	8: 27,031,764	V164A	probably benign	Het
Fam110a	T	C	2: 151,970,211	D213G	probably damaging	Het
Fkbp1a	T	C	2: 151,557,500		probably null	Het
Foxg1	G	A	12: 49,384,720		probably benign	Het
Gm12185	T	C	11: 48,915,999	S122G	probably benign	Het
Gm2042	A	T	12: 87,960,281	D456V	probably damaging	Het
Gm8857	G	T	5: 10,950,551		probably null	Het
Grin2b	A	G	6: 135,923,038	Y282H	probably damaging	Het
Gys2	T	C	6: 142,472,722	D27G	probably benign	Het
H2-DMa	T	A	17: 34,136,997		probably null	Het
Hectd4	T	A	5: 121,364,568	I4245N	possibly damaging	Het
Incenp	A	G	19: 9,893,372	Y298H	unknown	Het
Ints2	C	T	11: 86,233,085	G626R	probably damaging	Het
Kifc1	A	T	17: 33,883,697	V314E	probably damaging	Het
Lurap1l	C	T	4: 80,911,367	P5S	probably benign	Het
Mtmr11	A	G	3: 96,169,946	Y540C	probably damaging	Het
Muc4	C	A	16: 32,756,324		probably benign	Het
Myh13	A	G	11: 67,369,316	E1860G	possibly damaging	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Nbeal1	G	A	1: 60,310,947	G2385D	probably damaging	Het
Ncaph2	G	A	15: 89,371,356	A578T	probably benign	Het
Ncr1	T	C	7: 4,338,145	V8A	possibly damaging	Het
Nutm1	T	C	2: 112,256,168	T73A	probably damaging	Het
Olfm1	G	A	2: 28,229,336	D313N	probably damaging	Het
Olfr1196	T	A	2: 88,700,820	N170Y	probably damaging	Het
Olfr275	A	G	4: 52,826,089	M231V	probably benign	Het
Otog	T	A	7: 46,267,398		probably null	Het
Peak1	G	T	9: 56,259,707	D312E	probably damaging	Het
Plekhg1	T	C	10: 3,940,251	I331T	probably damaging	Het
Polr1b	T	C	2: 129,115,642	V539A	possibly damaging	Het
Polr2a	A	T	11: 69,747,213	H143Q	possibly damaging	Het
Ppargc1b	G	T	18: 61,307,714	A711D	probably damaging	Het
Prnd	T	A	2: 131,953,442	C161S	possibly damaging	Het
Prrt4	A	G	6: 29,171,148	L435P	possibly damaging	Het
Psen2	C	T	1: 180,227,520		probably null	Het
Psg23	T	C	7: 18,614,744	E46G	possibly damaging	Het
Rasgef1b	C	T	5: 99,232,336	R350H	probably damaging	Het
Rfxank	G	C	8: 70,138,170	P16A	probably benign	Het
Sema6a	A	G	18: 47,248,570	I944T	probably damaging	Het
Serpinc1	A	G	1: 160,997,521	T313A	probably benign	Het
Slc27a4	T	C	2: 29,804,271	S36P	possibly damaging	Het
Slc36a1	C	A	11: 55,223,737	R214S	probably benign	Het
Sorl1	C	T	9: 42,030,983	S982N	possibly damaging	Het
Syt1	A	C	10: 108,690,936	D37E	probably benign	Het
Tcl1b5	A	T	12: 105,176,491	D26V	probably damaging	Het
Tenm4	A	T	7: 96,895,223	K2149*	probably null	Het
Ubc	T	A	5: 125,388,174	I30F	probably damaging	Het
Ugt1a7c	A	T	1: 88,095,528	E136D	possibly damaging	Het
Utp20	A	G	10: 88,754,475		probably null	Het
Vmn1r159	C	T	7: 22,842,864	V248I	probably damaging	Het
Vmn2r105	T	C	17: 20,208,612	H734R	probably damaging	Het
Wdr60	T	C	12: 116,211,891	M889V	probably benign	Het
Xrcc2	T	G	5: 25,692,709	I81L	possibly damaging	Het
Zfat	A	C	15: 68,181,015	I310S	probably damaging	Het
Zfp119a	A	G	17: 55,866,009	V278A	probably benign	Het
Zfp53	A	G	17: 21,500,246	K33E	probably benign	Het
Zfp866	G	T	8: 69,765,841	H376Q	probably damaging	Het

Other mutations in Olfr749

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03188:Olfr749	APN	14	50736858	nonsense	probably null
R0141:Olfr749	UTSW	14	50736383	missense	possibly damaging	0.94
R0462:Olfr749	UTSW	14	50737097	missense	probably benign
R1424:Olfr749	UTSW	14	50737064	missense	probably benign
R1791:Olfr749	UTSW	14	50736687	small insertion	probably benign
R1912:Olfr749	UTSW	14	50736778	missense	probably damaging	1.00
R2069:Olfr749	UTSW	14	50736576	missense	possibly damaging	0.51
R2171:Olfr749	UTSW	14	50736419	missense	probably benign	0.33
R2176:Olfr749	UTSW	14	50736224	missense	probably benign
R2184:Olfr749	UTSW	14	50736602	missense	probably damaging	0.98
R3158:Olfr749	UTSW	14	50736814	missense	probably benign	0.01
R5068:Olfr749	UTSW	14	50737074	missense	probably benign	0.02
R5069:Olfr749	UTSW	14	50737074	missense	probably benign	0.02
R5070:Olfr749	UTSW	14	50737074	missense	probably benign	0.02
R5733:Olfr749	UTSW	14	50737052	missense	probably benign	0.32
R6155:Olfr749	UTSW	14	50736619	missense	probably benign	0.02
R6728:Olfr749	UTSW	14	50736839	missense	possibly damaging	0.61
R7276:Olfr749	UTSW	14	50736730	missense	possibly damaging	0.90
R7535:Olfr749	UTSW	14	50736665	missense	probably benign	0.37
R8124:Olfr749	UTSW	14	50736286	missense	probably benign	0.03
R9021:Olfr749	UTSW	14	50737097	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCCTGAGCAACAAAATATAGG -3'
(R):5'- AGGCCATCTCATTTTCAGGG -3'

Sequencing Primer
(F):5'- ACCGAAGAATGTATGCAATAGTG -3'
(R):5'- GCCATCTCATTTTCAGGGTGCTTC -3'

Posted On

2019-05-13