Mutagenetix > Incidental Mutations

Incidental Mutation 'R1061:Olfr544'

94476

Institutional Source

Beutler Lab

Gene Symbol

Olfr544

Ensembl Gene

ENSMUSG00000043925

Gene Name

olfactory receptor 544

Synonyms

GA_x6K02T2PBJ9-5206624-5205620, MOR42-3

MMRRC Submission

039147-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R1061 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102482031-102488313 bp(-) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

T to A at 102484114 bp

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Cysteine at position 335 (*335C)

Ref Sequence

ENSEMBL: ENSMUSP00000051280 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051201] [ENSMUST00000219647]

Predicted Effect

probably null
Transcript: ENSMUST00000051201
AA Change: *335C

SMART Domains

Protein: ENSMUSP00000051280
Gene: ENSMUSG00000043925
AA Change: *335C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	314	1.2e-73	PFAM
Pfam:7TM_GPCR_Srsx	39	311	6.3e-8	PFAM
Pfam:7tm_1	45	296	2.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000219647

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

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]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,277,809	A715T	probably benign	Het
Ampd2	A	G	3: 108,075,689	Y641H	probably damaging	Het
Aqp4	A	T	18: 15,398,191	V171E	probably damaging	Het
Arid4a	T	A	12: 71,074,955	S381R	probably damaging	Het
Armc8	T	G	9: 99,537,731	N51H	probably damaging	Het
Asic5	T	A	3: 82,021,001	Y424N	probably damaging	Het
Bcl11a	A	T	11: 24,164,069	K471*	probably null	Het
Birc6	A	G	17: 74,689,312	T4494A	probably damaging	Het
Btbd9	A	G	17: 30,527,435	I139T	probably benign	Het
Ccdc114	T	C	7: 45,941,755	I218T	probably damaging	Het
Ccdc60	C	A	5: 116,172,468	R178S	possibly damaging	Het
Cd163	C	T	6: 124,309,169	A226V	probably benign	Het
Cog1	T	G	11: 113,652,037	S170A	probably benign	Het
Cwc15	T	C	9: 14,507,915	L169P	probably damaging	Het
Cyp3a25	A	T	5: 145,986,833	D333E	probably benign	Het
Ddc	C	T	11: 11,829,132	V331I	probably benign	Het
Dlc1	T	A	8: 36,858,051	T367S	probably benign	Het
Dnah17	T	C	11: 118,052,688	D3183G	possibly damaging	Het
Eif2a	T	A	3: 58,545,065	Y165*	probably null	Het
Eml6	T	C	11: 29,777,267	D1285G	probably damaging	Het
Fam92b	C	A	8: 120,169,704		probably null	Het
Fasn	T	C	11: 120,822,182		probably null	Het
Fbn1	T	C	2: 125,345,963	T1549A	probably benign	Het
Fezf2	T	C	14: 12,342,713	Y384C	probably damaging	Het
Flvcr1	A	T	1: 191,008,173	V550E	probably benign	Het
Gcm2	A	G	13: 41,105,871	W41R	probably damaging	Het
Gli2	A	T	1: 118,854,517	M160K	possibly damaging	Het
Gpr61	C	T	3: 108,150,307	R346H	probably damaging	Het
Hoxa5	A	T	6: 52,204,155	S66T	probably benign	Het
Hsph1	A	T	5: 149,618,418	V781D	possibly damaging	Het
Kdm3b	G	A	18: 34,796,862	V220M	probably damaging	Het
Klhl25	T	A	7: 75,866,520	Y391*	probably null	Het
Mc2r	A	T	18: 68,407,809	Y138N	probably damaging	Het
Mtap	C	A	4: 89,156,584	D106E	probably benign	Het
Nup43	G	T	10: 7,667,671	W37L	probably damaging	Het
Nxpe2	T	A	9: 48,326,363	E197D	probably damaging	Het
Olfr1098	A	T	2: 86,922,782	V250D	possibly damaging	Het
Olfr484	T	C	7: 108,124,456	Y269C	probably damaging	Het
Olfr934	C	A	9: 38,982,483	C187F	probably damaging	Het
Pitrm1	A	G	13: 6,555,575	H186R	probably damaging	Het
Pklr	C	T	3: 89,144,881	R467C	probably damaging	Het
Plxna2	A	G	1: 194,644,093	N112D	probably damaging	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Ppp3cb	A	C	14: 20,508,614		probably null	Het
R3hcc1l	C	T	19: 42,583,426	R135*	probably null	Het
Ralyl	A	C	3: 14,115,701	D68A	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
S100a1	T	C	3: 90,511,312	N65S	probably damaging	Het
Scn11a	A	T	9: 119,795,663	M531K	probably damaging	Het
Slc5a5	T	A	8: 70,890,221	M232L	probably benign	Het
Tet3	A	T	6: 83,373,323	N1054K	probably damaging	Het
Tg	A	G	15: 66,698,559	N1427D	probably benign	Het
Tns1	A	C	1: 73,917,672	V530G	probably damaging	Het
Trcg1	C	A	9: 57,245,873	Q600K	possibly damaging	Het
Tshz3	A	G	7: 36,768,706	E40G	probably damaging	Het
Usp34	T	C	11: 23,384,420	F1138S	possibly damaging	Het
Vmn2r26	C	T	6: 124,061,644	T726I	probably benign	Het
Vmn2r97	A	T	17: 18,928,178	R112*	probably null	Het
Vwa2	G	T	19: 56,908,994	R577L	probably benign	Het
Vwa3b	A	C	1: 37,157,430	Q46P	probably damaging	Het
Wdr25	T	A	12: 108,992,799		probably null	Het
Wrap53	A	G	11: 69,562,400	L405P	probably damaging	Het
Zfp629	C	A	7: 127,611,989	W216L	probably damaging	Het

Other mutations in Olfr544

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01099:Olfr544	APN	7	102484478	missense	probably damaging	1.00
IGL01380:Olfr544	APN	7	102484385	missense	probably damaging	1.00
IGL01594:Olfr544	APN	7	102485047	missense	probably benign
R0732:Olfr544	UTSW	7	102484443	missense	probably benign	0.15
R1387:Olfr544	UTSW	7	102484704	missense	probably benign	0.01
R2760:Olfr544	UTSW	7	102484376	missense	probably damaging	1.00
R5151:Olfr544	UTSW	7	102484985	missense	probably benign	0.00
R5916:Olfr544	UTSW	7	102484379	missense	probably damaging	1.00
R6084:Olfr544	UTSW	7	102484389	missense	probably damaging	1.00
R7069:Olfr544	UTSW	7	102484772	missense	possibly damaging	0.85
R7195:Olfr544	UTSW	7	102484367	missense	probably damaging	1.00
R7738:Olfr544	UTSW	7	102484611	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGAGGCTCTCCAGTATGAGTGCAG -3'
(R):5'- AACCGAGTCCTGGATATGCTCCTG -3'

Sequencing Primer
(F):5'- agcatttggcaaactaagaaagg -3'
(R):5'- ATCTCATCAGGTGGAGCACG -3'

Posted On

2014-01-05