Mutagenetix > Incidental Mutation

Incidental Mutation 'R1538:Olfr482'

169693

Institutional Source

Beutler Lab

Gene Symbol

Olfr482

Ensembl Gene

ENSMUSG00000059031

Gene Name

olfactory receptor 482

Synonyms

MOR204-14, GA_x6K02T2PBJ9-10424354-10423383

MMRRC Submission

039577-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R1538 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108092999-108097586 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108095286 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 95 (I95F)

Ref Sequence

ENSEMBL: ENSMUSP00000150755 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081184] [ENSMUST00000217304]

AlphaFold

Q8VG03

Predicted Effect

probably damaging
Transcript: ENSMUST00000081184
AA Change: I95F

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

SMART Domains

Protein: ENSMUSP00000079948
Gene: ENSMUSG00000059031
AA Change: I95F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	1.2e-52	PFAM
Pfam:7tm_1	44	293	8.1e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207291

Predicted Effect

probably damaging
Transcript: ENSMUST00000217304
AA Change: I95F

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.6%

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	T	3: 138,065,401 (GRCm38)	R117L	probably benign	Het
4930447C04Rik	G	A	12: 72,881,346 (GRCm38)	A537V	possibly damaging	Het
4930579F01Rik	A	C	3: 138,183,756 (GRCm38)	D33E	probably damaging	Het
9530053A07Rik	A	T	7: 28,155,492 (GRCm38)	I1848F	probably damaging	Het
Acnat1	T	C	4: 49,447,835 (GRCm38)	K249E	possibly damaging	Het
Ankrd13a	T	C	5: 114,804,234 (GRCm38)	I526T	possibly damaging	Het
Aplp1	C	A	7: 30,436,027 (GRCm38)	E535D	probably benign	Het
Armc8	T	A	9: 99,505,290 (GRCm38)	H425L	probably damaging	Het
Arsi	G	A	18: 60,916,651 (GRCm38)	G202E	probably benign	Het
Asprv1	C	T	6: 86,628,636 (GRCm38)	Q155*	probably null	Het
Atl1	A	G	12: 69,926,188 (GRCm38)	Q94R	probably benign	Het
Atp2a2	A	G	5: 122,457,377 (GRCm38)	L970P	probably damaging	Het
Atp8a2	T	C	14: 59,860,270 (GRCm38)	K770E	probably benign	Het
Bod1l	A	G	5: 41,816,429 (GRCm38)	M2514T	probably benign	Het
Cacfd1	T	A	2: 27,018,939 (GRCm38)	D97E	probably benign	Het
Cacna1e	A	G	1: 154,561,758 (GRCm38)	L344P	probably damaging	Het
Cacna2d2	C	A	9: 107,517,416 (GRCm38)	R596S	probably damaging	Het
Catip	C	A	1: 74,364,652 (GRCm38)	S176*	probably null	Het
Cdcp1	G	A	9: 123,173,588 (GRCm38)	S806L	probably damaging	Het
Cdk6	A	T	5: 3,520,675 (GRCm38)	I289L	probably benign	Het
Cers3	C	T	7: 66,781,823 (GRCm38)	T182I	probably damaging	Het
Cfap46	T	A	7: 139,683,008 (GRCm38)	N43I	probably null	Het
Clec4n	A	T	6: 123,230,033 (GRCm38)	R5S	possibly damaging	Het
Cnr2	G	T	4: 135,916,701 (GRCm38)	S30I	probably benign	Het
Col18a1	C	T	10: 77,071,336 (GRCm38)	G870E	probably damaging	Het
Cpne6	T	C	14: 55,515,220 (GRCm38)	V289A	possibly damaging	Het
Crym	G	A	7: 120,197,715 (GRCm38)	L141F	probably benign	Het
Cxxc5	T	C	18: 35,858,569 (GRCm38)	S8P	unknown	Het
Dido1	A	C	2: 180,684,970 (GRCm38)	S453R	possibly damaging	Het
Dnah2	A	C	11: 69,477,202 (GRCm38)	S1770R	probably benign	Het
Dnah7a	A	G	1: 53,495,989 (GRCm38)	V2704A	possibly damaging	Het
Eml5	T	C	12: 98,794,276 (GRCm38)	N1738S	probably damaging	Het
Eri3	A	G	4: 117,582,639 (GRCm38)	T138A	possibly damaging	Het
Ext2	C	T	2: 93,707,287 (GRCm38)	E585K	probably damaging	Het
Fam35a	C	G	14: 34,268,876 (GRCm38)	Q24H	probably damaging	Het
Fam84b	A	G	15: 60,823,649 (GRCm38)	C83R	probably damaging	Het
Fbxw19	T	A	9: 109,494,988 (GRCm38)	S38C	probably damaging	Het
Fmo6	G	A	1: 162,926,106 (GRCm38)	P156S	probably damaging	Het
Frem3	A	T	8: 80,613,135 (GRCm38)	I686F	probably benign	Het
Frem3	T	C	8: 80,612,710 (GRCm38)	L544P	probably damaging	Het
Gabra1	T	C	11: 42,140,350 (GRCm38)	Y251C	probably benign	Het
Gemin4	G	T	11: 76,211,161 (GRCm38)	Q925K	probably benign	Het
Gm18856	T	A	13: 13,964,689 (GRCm38)		probably benign	Het
Gnb1	A	T	4: 155,551,714 (GRCm38)	T164S	probably benign	Het
Gpx6	A	G	13: 21,313,652 (GRCm38)	D31G	possibly damaging	Het
Gzmd	A	C	14: 56,130,345 (GRCm38)	I157S	probably benign	Het
Il31ra	T	A	13: 112,547,466 (GRCm38)	N43I	possibly damaging	Het
Irak3	T	C	10: 120,165,130 (GRCm38)	T297A	probably benign	Het
Kank2	T	C	9: 21,774,631 (GRCm38)	D649G	probably damaging	Het
Kif3b	AGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGG	2: 153,317,462 (GRCm38)		probably benign	Het
Kirrel	C	T	3: 87,089,151 (GRCm38)	M380I	probably null	Het
Klhl18	A	G	9: 110,446,747 (GRCm38)	F111S	probably damaging	Het
Lrp5	A	G	19: 3,647,585 (GRCm38)	S319P	possibly damaging	Het
Marc1	T	C	1: 184,802,002 (GRCm38)	E223G	probably damaging	Het
Mettl15	T	C	2: 109,131,665 (GRCm38)		probably null	Het
Ncoa1	T	C	12: 4,270,748 (GRCm38)	Q1107R	possibly damaging	Het
Ncoa7	T	G	10: 30,694,211 (GRCm38)	M251L	probably damaging	Het
Nos2	A	T	11: 78,956,570 (GRCm38)	M1023L	probably benign	Het
Nup107	T	C	10: 117,790,494 (GRCm38)	K25E	probably damaging	Het
Olfr1491	A	T	19: 13,705,496 (GRCm38)	Y223F	probably damaging	Het
Olfr177	T	A	16: 58,872,898 (GRCm38)	N84I	probably damaging	Het
Olfr591	A	G	7: 103,172,986 (GRCm38)	I217T	probably damaging	Het
Olfr711	A	T	7: 106,971,983 (GRCm38)	Y120*	probably null	Het
Olfr776	T	C	10: 129,261,213 (GRCm38)	I84T	probably damaging	Het
Parm1	G	A	5: 91,594,447 (GRCm38)	E225K	possibly damaging	Het
Pdzd2	A	C	15: 12,372,961 (GRCm38)	S2363A	probably damaging	Het
Piezo1	A	G	8: 122,491,403 (GRCm38)	L1199P	probably damaging	Het
Prpsap1	A	T	11: 116,479,708 (GRCm38)	M141K	probably benign	Het
Prss29	A	T	17: 25,320,283 (GRCm38)	M1L	possibly damaging	Het
Pter	T	A	2: 12,978,606 (GRCm38)	S141T	probably benign	Het
Ptpru	A	T	4: 131,774,351 (GRCm38)	D1181E	probably damaging	Het
Rab3ip	T	A	10: 116,939,254 (GRCm38)	Q66H	probably damaging	Het
Rgs12	A	T	5: 35,021,167 (GRCm38)	T779S	probably damaging	Het
Rgs22	A	G	15: 36,048,776 (GRCm38)	F786S	probably damaging	Het
Rnasel	A	T	1: 153,760,794 (GRCm38)	D640V	possibly damaging	Het
Rp1	T	C	1: 4,345,676 (GRCm38)	T1738A	probably damaging	Het
Sacs	T	C	14: 61,210,059 (GRCm38)	S3185P	probably damaging	Het
Scnn1a	T	A	6: 125,338,893 (GRCm38)	D321E	possibly damaging	Het
Sec31b	G	C	19: 44,518,586 (GRCm38)	L1014V	probably benign	Het
Serpinb10	A	G	1: 107,540,960 (GRCm38)	Y111C	probably damaging	Het
Siglecg	A	G	7: 43,417,889 (GRCm38)	K627E	possibly damaging	Het
Sigmar1	T	C	4: 41,740,845 (GRCm38)	I95V	probably benign	Het
Sirpb1b	T	A	3: 15,548,759 (GRCm38)	T88S	possibly damaging	Het
Spire2	T	G	8: 123,358,156 (GRCm38)	L245R	probably damaging	Het
Stard9	C	A	2: 120,696,711 (GRCm38)	P1150T	probably benign	Het
Stat6	C	A	10: 127,653,256 (GRCm38)	T380N	probably damaging	Het
Sult3a1	G	A	10: 33,870,170 (GRCm38)	G162E	probably benign	Het
Surf4	T	C	2: 26,933,698 (GRCm38)		probably null	Het
Tacc2	T	C	7: 130,625,419 (GRCm38)	M1278T	probably benign	Het
Tacr2	T	A	10: 62,261,327 (GRCm38)		probably null	Het
Tcaf1	A	T	6: 42,678,989 (GRCm38)	V351E	probably damaging	Het
Tmcc2	A	G	1: 132,380,980 (GRCm38)	S59P	probably damaging	Het
Tmem17	G	A	11: 22,517,266 (GRCm38)	S60N	possibly damaging	Het
Tmem63b	C	G	17: 45,678,978 (GRCm38)	R88P	possibly damaging	Het
Tmprss7	A	T	16: 45,679,390 (GRCm38)	I307N	probably benign	Het
Treml2	A	T	17: 48,302,758 (GRCm38)	T73S	possibly damaging	Het
Trrap	A	G	5: 144,837,202 (GRCm38)	H2876R	possibly damaging	Het
Tyw3	A	G	3: 154,596,869 (GRCm38)	I53T	probably damaging	Het
Ugp2	A	G	11: 21,333,791 (GRCm38)	I92T	possibly damaging	Het
Vmn2r66	A	T	7: 84,994,958 (GRCm38)	M748K	possibly damaging	Het
Vmn2r82	T	C	10: 79,356,744 (GRCm38)	S52P	possibly damaging	Het
Wdr37	A	T	13: 8,836,792 (GRCm38)	S320T	probably benign	Het
Zbtb16	A	T	9: 48,832,283 (GRCm38)	M243K	probably benign	Het
Zfr	C	T	15: 12,150,243 (GRCm38)	T432I	possibly damaging	Het

Other mutations in Olfr482

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01400:Olfr482	APN	7	108,094,839 (GRCm38)	missense	probably damaging	1.00
IGL01482:Olfr482	APN	7	108,095,486 (GRCm38)	missense	probably benign	0.01
IGL01710:Olfr482	APN	7	108,095,242 (GRCm38)	missense	probably benign	0.00
IGL02064:Olfr482	APN	7	108,095,247 (GRCm38)	missense	probably benign	0.20
IGL02930:Olfr482	APN	7	108,095,414 (GRCm38)	missense	probably damaging	1.00
IGL03206:Olfr482	APN	7	108,095,054 (GRCm38)	missense	probably damaging	1.00
IGL03255:Olfr482	APN	7	108,094,817 (GRCm38)	missense	probably damaging	1.00
R0378:Olfr482	UTSW	7	108,095,222 (GRCm38)	missense	probably benign	0.10
R0552:Olfr482	UTSW	7	108,094,778 (GRCm38)	missense	probably benign	0.01
R1771:Olfr482	UTSW	7	108,095,609 (GRCm38)	splice site	probably null
R1939:Olfr482	UTSW	7	108,095,141 (GRCm38)	missense	probably benign	0.06
R2258:Olfr482	UTSW	7	108,095,195 (GRCm38)	missense	possibly damaging	0.95
R4169:Olfr482	UTSW	7	108,095,384 (GRCm38)	missense	probably damaging	1.00
R4170:Olfr482	UTSW	7	108,095,073 (GRCm38)	missense	probably benign	0.00
R4485:Olfr482	UTSW	7	108,095,015 (GRCm38)	missense	probably benign
R4803:Olfr482	UTSW	7	108,095,459 (GRCm38)	missense	probably damaging	0.99
R4887:Olfr482	UTSW	7	108,095,096 (GRCm38)	missense	probably benign	0.18
R5059:Olfr482	UTSW	7	108,095,315 (GRCm38)	missense	probably damaging	1.00
R5445:Olfr482	UTSW	7	108,094,742 (GRCm38)	missense	possibly damaging	0.69
R5539:Olfr482	UTSW	7	108,095,226 (GRCm38)	missense	probably benign	0.23
R5644:Olfr482	UTSW	7	108,094,804 (GRCm38)	nonsense	probably null
R6200:Olfr482	UTSW	7	108,095,525 (GRCm38)	frame shift	probably null
R7171:Olfr482	UTSW	7	108,095,135 (GRCm38)	missense	probably benign	0.00
R8024:Olfr482	UTSW	7	108,095,289 (GRCm38)	missense	probably benign	0.19
R8316:Olfr482	UTSW	7	108,095,243 (GRCm38)	missense	probably benign	0.09
R9013:Olfr482	UTSW	7	108,095,264 (GRCm38)	missense	probably benign	0.02
R9376:Olfr482	UTSW	7	108,095,264 (GRCm38)	missense	possibly damaging	0.93
X0021:Olfr482	UTSW	7	108,094,959 (GRCm38)	missense	probably benign	0.20
Z1176:Olfr482	UTSW	7	108,094,994 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCAACTTGACACAGACTTGTGTGG -3'
(R):5'- ATGGCTTTCCTGGAGGATGGGAAC -3'

Sequencing Primer
(F):5'- ACACAGACTTGTGTGGACATTTTG -3'
(R):5'- TGGGTTTAACAGATGACCCAGTC -3'

Posted On

2014-04-13