Mutagenetix > Incidental Mutation

Incidental Mutation 'R1624:Olfr524'

174889

Institutional Source

Beutler Lab

Gene Symbol

Olfr524

Ensembl Gene

ENSMUSG00000050366

Gene Name

olfactory receptor 524

Synonyms

GA_x6K02T2PBJ9-42354580-42353624, MOR103-14P

MMRRC Submission

039661-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R1624 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140198499-140205964 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140201951 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 273 (N273S)

Ref Sequence

ENSEMBL: ENSMUSP00000150970 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051943] [ENSMUST00000215815]

AlphaFold

Q7TRU0

Predicted Effect

probably damaging
Transcript: ENSMUST00000051943
AA Change: N273S

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000053565
Gene: ENSMUSG00000050366
AA Change: N273S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	309	7.5e-56	PFAM
Pfam:7tm_1	42	292	6.4e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215815
AA Change: N273S

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

Meta Mutation Damage Score

0.1740

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 95.9%
20x: 91.4%

Validation Efficiency

99% (90/91)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	T	C	16: 21,653,746	Y68C	probably damaging	Het
6820408C15Rik	A	T	2: 152,434,111	H81L	probably damaging	Het
Acbd4	A	G	11: 103,103,959	T48A	probably damaging	Het
Acpp	T	A	9: 104,320,001	E146D	probably benign	Het
Acsm1	T	A	7: 119,652,573	I307N	probably damaging	Het
Adcy4	T	C	14: 55,781,927	T89A	possibly damaging	Het
Agl	T	C	3: 116,787,246	T356A	probably benign	Het
Ago1	A	G	4: 126,463,741	I47T	probably damaging	Het
Akr1c6	T	A	13: 4,446,364	Y75N	probably benign	Het
Anxa2	T	A	9: 69,479,708	S92T	probably benign	Het
Arid4b	T	C	13: 14,184,394	S585P	probably damaging	Het
Arl4d	T	C	11: 101,667,016	S123P	possibly damaging	Het
Atad2	A	T	15: 58,100,019	D1067E	probably damaging	Het
Brap	C	A	5: 121,682,859	T403K	possibly damaging	Het
Brwd1	A	T	16: 96,008,144	N1895K	possibly damaging	Het
Ccdc187	T	C	2: 26,281,075	T464A	probably benign	Het
Cdh11	T	C	8: 102,664,601		probably benign	Het
Chd9	A	T	8: 90,998,535	Y691F	probably benign	Het
Clhc1	A	T	11: 29,569,287	I365F	possibly damaging	Het
Col11a1	A	G	3: 114,158,155	Q1078R	probably damaging	Het
Creb3	G	A	4: 43,566,375	V294I	possibly damaging	Het
Cspg4	T	C	9: 56,888,470	I1163T	probably damaging	Het
Cyp3a57	A	C	5: 145,390,415		probably null	Het
Dnah3	A	T	7: 120,019,695	I1661N	probably damaging	Het
Dpysl4	A	C	7: 139,089,553	D49A	probably damaging	Het
Efhb	T	A	17: 53,426,278	I522F	probably damaging	Het
Epha4	T	C	1: 77,399,692	T517A	probably damaging	Het
Fasn	A	G	11: 120,813,111	S1466P	probably damaging	Het
Fgd6	A	T	10: 94,137,436	D1253V	probably benign	Het
Fjx1	G	A	2: 102,451,164	A142V	probably benign	Het
Foxb1	T	C	9: 69,759,316	T311A	probably benign	Het
Fpgs	A	G	2: 32,691,188		probably null	Het
Gm10024	A	G	10: 77,711,772		probably null	Het
Gnat3	A	T	5: 18,003,843	T182S	possibly damaging	Het
Igsf3	T	A	3: 101,455,227	F875I	probably benign	Het
Kif13b	A	G	14: 64,738,619	E461G	probably damaging	Het
Kif23	A	T	9: 61,925,700		probably null	Het
Kntc1	G	A	5: 123,758,477	R134Q	possibly damaging	Het
Krt33a	A	T	11: 100,014,246	Y145N	probably damaging	Het
Lama5	A	G	2: 180,206,758	V313A	probably benign	Het
Lamb1	T	C	12: 31,278,652		probably null	Het
Megf6	G	T	4: 154,177,121	V68L	probably benign	Het
Mtor	C	T	4: 148,547,676	L2336F	probably damaging	Het
Naglu	T	C	11: 101,076,525	S434P	probably damaging	Het
Ncoa7	T	A	10: 30,704,659	H101L	possibly damaging	Het
Nlrc4	G	A	17: 74,445,189	T733I	possibly damaging	Het
Nr3c2	A	G	8: 76,909,944	E558G	probably damaging	Het
Nsun4	A	T	4: 116,034,200	N327K	probably benign	Het
Olfr1310	T	A	2: 112,008,532	Y218F	probably damaging	Het
Olfr165	T	A	16: 19,407,704	Y104F	probably benign	Het
Olfr54	T	C	11: 51,027,125	V41A	probably damaging	Het
Olfr743	A	G	14: 50,533,643	Y77C	probably damaging	Het
Pdia2	T	A	17: 26,196,521	I441F	probably damaging	Het
Phyh	T	C	2: 4,925,683	S74P	probably benign	Het
Pigo	A	G	4: 43,024,661	L146P	probably damaging	Het
Plce1	A	G	19: 38,724,775	D1191G	probably damaging	Het
Plrg1	T	C	3: 83,067,994		probably benign	Het
Plrg1	G	A	3: 83,069,744	R364Q	probably damaging	Het
Polr3b	T	C	10: 84,679,805	L614S	probably damaging	Het
Pramef25	A	T	4: 143,949,830	C235S	possibly damaging	Het
Prrg4	A	G	2: 104,832,682	V193A	probably damaging	Het
Prss16	T	A	13: 22,003,313	E47V	probably benign	Het
Ptpru	G	A	4: 131,772,550	T1261I	probably damaging	Het
Pycard	A	G	7: 127,992,798	S124P	possibly damaging	Het
Riok1	C	A	13: 38,037,511	D17E	probably damaging	Het
Scin	T	A	12: 40,127,930	Y102F	probably benign	Het
Scmh1	A	G	4: 120,529,228	H655R	probably damaging	Het
Scyl2	A	T	10: 89,640,736	N842K	probably benign	Het
Sec23b	T	A	2: 144,567,129	M211K	probably benign	Het
Serpina3i	A	C	12: 104,268,638	*409C	probably null	Het
Sgk2	G	A	2: 162,997,859	R129H	probably benign	Het
Slc39a13	A	G	2: 91,068,526	I80T	probably damaging	Het
Smarcad1	A	G	6: 65,052,647	D73G	probably benign	Het
Spata18	A	C	5: 73,669,545	T276P	probably damaging	Het
Srgap1	T	G	10: 121,855,373	M319L	probably benign	Het
Stx7	T	A	10: 24,185,005	V210E	probably damaging	Het
Tjp2	T	A	19: 24,131,412	H112L	probably benign	Het
Tuba8	A	T	6: 121,220,426	I16F	probably damaging	Het
Ube3c	G	A	5: 29,646,619	A815T	probably benign	Het
Vmn2r5	A	T	3: 64,509,695	V14E	probably benign	Het
Vmn2r79	A	T	7: 87,004,039		probably null	Het
Wisp3	G	A	10: 39,153,243	R230W	probably damaging	Het
Zdbf2	A	G	1: 63,303,859	T466A	possibly damaging	Het

Other mutations in Olfr524

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01991:Olfr524	APN	7	140202432	missense	probably damaging	1.00
IGL01999:Olfr524	APN	7	140202432	missense	probably damaging	1.00
IGL02005:Olfr524	APN	7	140202432	missense	probably damaging	1.00
IGL02030:Olfr524	APN	7	140202632	missense	probably damaging	0.97
IGL02474:Olfr524	APN	7	140202587	missense	probably damaging	1.00
H8441:Olfr524	UTSW	7	140201958	missense	possibly damaging	0.81
R0426:Olfr524	UTSW	7	140202116	missense	possibly damaging	0.81
R0704:Olfr524	UTSW	7	140202635	missense	probably benign	0.00
R0891:Olfr524	UTSW	7	140202459	missense	probably damaging	1.00
R1865:Olfr524	UTSW	7	140202372	missense	probably damaging	1.00
R1938:Olfr524	UTSW	7	140202231	missense	probably benign	0.30
R2105:Olfr524	UTSW	7	140202743	missense	probably benign	0.02
R3009:Olfr524	UTSW	7	140202756	missense	probably benign
R3546:Olfr524	UTSW	7	140202101	missense	probably damaging	1.00
R4849:Olfr524	UTSW	7	140202427	nonsense	probably null
R5009:Olfr524	UTSW	7	140201838	missense	probably benign
R5105:Olfr524	UTSW	7	140202549	missense	probably damaging	1.00
R5413:Olfr524	UTSW	7	140202722	missense	possibly damaging	0.94
R5422:Olfr524	UTSW	7	140202392	missense	probably damaging	1.00
R7314:Olfr524	UTSW	7	140202413	missense	probably damaging	0.99
R7338:Olfr524	UTSW	7	140202533	missense	probably benign	0.01
R7921:Olfr524	UTSW	7	140202299	missense	probably damaging	1.00
R8438:Olfr524	UTSW	7	140202257	missense	probably damaging	1.00
R9261:Olfr524	UTSW	7	140202650	missense	probably benign	0.29
V1662:Olfr524	UTSW	7	140201958	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- CCAATCTGTTCACCCTGATGGACTG -3'
(R):5'- AGAGCTTGTAGACTTCCTCCTGGC -3'

Sequencing Primer
(F):5'- ACCCTGATGGACTGGTGAG -3'
(R):5'- TCATCTTGTTGGGGCCAC -3'

Posted On

2014-04-24