Mutagenetix > Incidental Mutations

Incidental Mutation 'R5069:Olfr749'

388574

Institutional Source

Beutler Lab

Gene Symbol

Olfr749

Ensembl Gene

ENSMUSG00000059069

Gene Name

olfactory receptor 749

Synonyms

GA_x6K02T2PMLR-6484046-6483105, MOR106-1

MMRRC Submission

042659-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R5069 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50736171-50745094 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 50737074 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 29 (L29F)

Ref Sequence

ENSEMBL: ENSMUSP00000150627 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000074674
AA Change: L29F

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000074242
Gene: ENSMUSG00000059069
AA Change: L29F

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

probably benign
Transcript: ENSMUST00000214290
AA Change: L29F

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

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]
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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,661,792	S739P	possibly damaging	Het
9330182L06Rik	T	A	5: 9,440,897	C636S	probably damaging	Het
Actn2	A	G	13: 12,288,522	I464T	possibly damaging	Het
Adcy7	T	C	8: 88,327,697	L1060P	probably damaging	Het
Aff3	A	G	1: 38,181,613		probably null	Het
Ankar	T	C	1: 72,680,210		probably null	Het
Ankrd27	A	T	7: 35,628,435	K793N	probably damaging	Het
Arhgef28	T	C	13: 98,075,206	T90A	probably damaging	Het
Armc9	A	T	1: 86,257,237	H670L	probably benign	Het
Arvcf	A	G	16: 18,398,986	Y412C	probably damaging	Het
Ass1	C	T	2: 31,510,173	T301M	probably damaging	Het
Baiap3	A	T	17: 25,249,108	C283S	probably damaging	Het
BC055324	T	C	1: 163,987,674	T93A	possibly damaging	Het
Birc6	C	T	17: 74,565,972	R409C	probably damaging	Het
Calcoco1	A	G	15: 102,711,092	L354P	probably damaging	Het
Cdh3	A	G	8: 106,536,826	N126S	probably benign	Het
Cfap54	A	C	10: 92,937,774	F135L	probably benign	Het
Dlg1	G	T	16: 31,684,295		probably null	Het
Dnah3	T	C	7: 120,032,790	H1314R	probably benign	Het
Dsp	A	C	13: 38,197,123	T2615P	possibly damaging	Het
Enpp2	T	C	15: 54,864,054	Y513C	probably damaging	Het
Ercc6	T	C	14: 32,570,063	V1128A	probably benign	Het
Gipc2	A	G	3: 152,094,248	F282L	probably benign	Het
Gm1043	T	G	5: 37,187,236	L231R	probably damaging	Het
Gm13178	T	A	4: 144,703,867	D184V	probably damaging	Het
Gm14085	A	T	2: 122,494,373	N142I	possibly damaging	Het
Gm14685	T	C	X: 73,127,971	I323T	probably damaging	Het
Gpr153	T	A	4: 152,279,883	M132K	probably damaging	Het
Hbs1l	T	A	10: 21,354,647	S496T	probably damaging	Het
Inpp5f	A	G	7: 128,676,727		probably null	Het
Kat6a	G	A	8: 22,903,133	C209Y	probably damaging	Het
Kcna2	T	A	3: 107,104,637	V178D	probably damaging	Het
Krt75	A	G	15: 101,566,238		probably null	Het
Letm2	G	A	8: 25,593,964	Q84*	probably null	Het
Mib1	A	G	18: 10,793,002	E646G	probably damaging	Het
Mmp14	T	A	14: 54,439,113	Y372N	probably damaging	Het
Muc6	A	G	7: 141,651,299	C218R	probably damaging	Het
Myof	A	T	19: 37,905,325	I1130N	possibly damaging	Het
Neil3	A	G	8: 53,601,041	S318P	possibly damaging	Het
Nhlh1	A	G	1: 172,053,900	V133A	probably benign	Het
Nup153	A	C	13: 46,709,792	S331A	probably benign	Het
Nup98	T	C	7: 102,145,655	T882A	probably benign	Het
Olfr1413	T	A	1: 92,573,413	S81T	probably damaging	Het
Olfr599	A	T	7: 103,338,022		probably null	Het
Olfr744	T	A	14: 50,618,740	C173S	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pald1	A	T	10: 61,341,246	M675K	possibly damaging	Het
Pex5	A	G	6: 124,413,596	S97P	probably benign	Het
Pitpnm1	C	T	19: 4,111,140	A897V	probably benign	Het
Plxnd1	A	T	6: 115,965,901	V1274E	probably damaging	Het
Polr2a	T	C	11: 69,736,735		probably null	Het
Ppfia1	G	A	7: 144,514,473	Q446*	probably null	Het
Psma2	G	A	13: 14,616,028	V20I	probably benign	Het
Rhbdl2	T	A	4: 123,817,917	L149*	probably null	Het
Rnf17	T	C	14: 56,505,928	V1317A	probably damaging	Het
Rtel1	G	A	2: 181,355,492	V1042M	probably benign	Het
Sidt2	A	T	9: 45,939,461		probably null	Het
Slc11a1	G	A	1: 74,385,184	A434T	probably damaging	Het
Slc4a10	G	A	2: 62,267,571	R508H	probably benign	Het
Slc5a8	A	T	10: 88,886,598	I98F	possibly damaging	Het
Slf2	T	A	19: 44,935,253	S169T	possibly damaging	Het
Snx33	A	T	9: 56,926,191	I198N	probably damaging	Het
Spock3	A	G	8: 63,355,265	T396A	probably benign	Het
Sva	A	T	6: 42,038,417		probably benign	Het
Syt7	A	G	19: 10,439,237	N261S	probably benign	Het
Taar7b	T	G	10: 24,000,461	S175A	probably benign	Het
Thoc2	C	T	X: 41,806,693	E1491K	probably damaging	Het
Tlr1	T	C	5: 64,926,400	Y278C	probably benign	Het
Tph2	T	A	10: 115,151,174	Y237F	probably benign	Het
Trim35	C	T	14: 66,308,972		probably benign	Het
Trpm4	T	G	7: 45,310,469	Y667S	probably damaging	Het
Ttc27	T	A	17: 74,799,342	H541Q	probably damaging	Het
Ube4a	T	C	9: 44,940,089	H709R	probably damaging	Het
Vwa7	G	A	17: 35,024,190	V615I	probably benign	Het
Wars2	A	G	3: 99,187,533	H48R	probably damaging	Het
Xlr4c	T	A	X: 73,238,684	K121M	probably damaging	Het
Zfc3h1	T	A	10: 115,418,783	C1427*	probably null	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
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
R7033:Olfr749	UTSW	14	50736707	missense	possibly damaging	0.78
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

Predicted Primers

PCR Primer
(F):5'- GGCCTTGGTCTTAGACAGAATG -3'
(R):5'- GGTTTCAGAATACTCTTGTGTTTCC -3'

Sequencing Primer
(F):5'- CCTTGGTCTTAGACAGAATGTTGGC -3'
(R):5'- CCTTGTAGAACTTAAGTTTGACACTC -3'

Posted On

2016-06-06