Mutagenetix > Incidental Mutations

Incidental Mutation 'R7869:Olfr1208'

607953

Institutional Source

Beutler Lab

Gene Symbol

Olfr1208

Ensembl Gene

ENSMUSG00000075114

Gene Name

olfactory receptor 1208

Synonyms

MOR225-4, GA_x6K02T2Q125-50372411-50371485

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R7869 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88895575-88902311 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88897064 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 178 (I178V)

Ref Sequence

ENSEMBL: ENSMUSP00000149280 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099810] [ENSMUST00000214121] [ENSMUST00000214297]

AlphaFold

Q8VG47

Predicted Effect

probably benign
Transcript: ENSMUST00000099810
AA Change: I178V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000097398
Gene: ENSMUSG00000075114
AA Change: I178V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	302	1.9e-48	PFAM
Pfam:7tm_1	38	284	2.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214121
AA Change: I178V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000214297
AA Change: I178V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	G	A	5: 113,184,135	R738C	possibly damaging	Het
Acot12	G	A	13: 91,771,725	V260M	probably benign	Het
Alkbh8	A	T	9: 3,359,503	H264L	probably damaging	Het
Arfgef2	C	T	2: 166,873,703	T1356I	probably damaging	Het
Arhgap27	A	T	11: 103,360,304	N199K	probably damaging	Het
Asic2	T	C	11: 81,967,998	R63G	probably damaging	Het
Aspa	T	A	11: 73,313,552	M197L	probably benign	Het
BC005537	C	T	13: 24,803,399	R7W	possibly damaging	Het
Brdt	A	T	5: 107,370,179	I723L	probably benign	Het
C2cd3	T	A	7: 100,469,491	F2312Y	probably damaging	Het
Cd19	T	C	7: 126,410,526	N456S	probably damaging	Het
Ceacam1	G	T	7: 25,476,529	A80E	probably damaging	Het
Cep135	T	C	5: 76,640,956	V1132A	probably benign	Het
Cep85	A	G	4: 134,132,298	C687R	probably damaging	Het
Cln5	A	G	14: 103,076,065	Y251C	probably damaging	Het
Crygc	A	G	1: 65,071,855	M91T	possibly damaging	Het
Ddt	T	C	10: 75,773,226	K33R	probably damaging	Het
Dhfr	G	A	13: 92,357,963	W58*	probably null	Het
Dhx40	T	C	11: 86,797,706	E297G	probably benign	Het
Dner	T	C	1: 84,383,881	Y669C	probably benign	Het
Dpys	G	T	15: 39,793,386	F428L	probably damaging	Het
Dspp	A	C	5: 104,175,665	T225P	probably damaging	Het
Elac2	A	G	11: 64,999,387	K656E	probably damaging	Het
Ern1	T	A	11: 106,459,019	R24*	probably null	Het
F2rl2	T	C	13: 95,701,011	I188T	probably damaging	Het
Fam83b	C	T	9: 76,492,144	C559Y	possibly damaging	Het
Fat1	T	G	8: 45,051,222	F4584C	probably benign	Het
Gabra6	G	A	11: 42,316,495	T254I	possibly damaging	Het
Garem1	T	C	18: 21,299,700	D24G	probably damaging	Het
Gas2l2	A	T	11: 83,421,990	L832*	probably null	Het
Gpr68	C	T	12: 100,879,238	D16N	probably benign	Het
Il17b	T	C	18: 61,692,409	I172T	probably damaging	Het
Ildr2	T	G	1: 166,309,292	S567A	probably benign	Het
Kalrn	A	G	16: 33,988,847	V2557A	probably damaging	Het
Kif1b	A	G	4: 149,184,376	S1627P	probably benign	Het
Kif5a	G	A	10: 127,243,474	T285M	probably damaging	Het
Lrif1	G	A	3: 106,733,143		probably null	Het
Lrrn2	C	T	1: 132,939,378	T727I	unknown	Het
Lsg1	T	C	16: 30,564,722	E560G	probably benign	Het
Map4k4	C	A	1: 39,974,044	Q100K	unknown	Het
Mipep	A	T	14: 60,802,936	R302W	probably damaging	Het
Morf4l1	G	T	9: 90,093,791	T316K	probably damaging	Het
Mov10	A	T	3: 104,804,678	V126E	probably damaging	Het
Muc2	T	A	7: 141,749,734	C559S		Het
Myh7	A	G	14: 54,989,073	Y410H	probably damaging	Het
Nf1	T	A	11: 79,418,588	Y433N	probably damaging	Het
Nmd3	T	C	3: 69,726,417	L79P	probably damaging	Het
Nol10	G	T	12: 17,358,238	S155I	probably null	Het
Olfr134	T	C	17: 38,175,939	L285P	possibly damaging	Het
Olfr1448	A	G	19: 12,919,547	I254T	probably benign	Het
Olfr668	T	A	7: 104,925,104	Y220F	probably damaging	Het
Pde3b	T	C	7: 114,494,687	S389P	probably benign	Het
Polr1c	C	T	17: 46,244,891	G188D	probably benign	Het
Prpf31	A	G	7: 3,630,860	M65V	probably benign	Het
Pum2	A	G	12: 8,713,595	T251A	probably benign	Het
Rabgap1	G	A	2: 37,487,130	V325I	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rpl15	G	T	14: 18,269,017	Y203*	probably null	Het
Sac3d1	G	A	19: 6,118,426	P54L	possibly damaging	Het
Serpina3g	A	G	12: 104,240,251	I104V	probably benign	Het
Setd2	C	T	9: 110,550,014	Q966*	probably null	Het
Simc1	G	T	13: 54,503,900	D9Y	unknown	Het
Slc5a8	T	C	10: 88,921,705	L519S	probably benign	Het
Srcap	C	A	7: 127,539,194	Q1179K	possibly damaging	Het
Srd5a3	T	C	5: 76,147,736	L91P	probably damaging	Het
Stab1	T	C	14: 31,154,472	T887A	probably benign	Het
Sult2a6	A	G	7: 14,254,812	F8L	not run	Het
Thsd7a	A	T	6: 12,471,124	C498*	probably null	Het
Timp4	T	C	6: 115,250,394	I75V	probably benign	Het
Tspyl4	T	A	10: 34,298,100	M196K	probably damaging	Het
Ubr2	T	C	17: 46,991,008	E172G	probably benign	Het
Ubr5	G	A	15: 37,979,832	A2434V	probably null	Het
Unc13c	T	G	9: 73,694,877	L1362F	probably damaging	Het
Vmn2r11	A	G	5: 109,052,120	V489A	probably damaging	Het
Vps39	T	C	2: 120,339,394	T226A	possibly damaging	Het
Zan	C	T	5: 137,473,601	E185K	probably damaging	Het

Other mutations in Olfr1208

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01340:Olfr1208	APN	2	88896977	missense	probably damaging	1.00
IGL02132:Olfr1208	APN	2	88897159	missense	probably benign
IGL02374:Olfr1208	APN	2	88897459	missense	probably damaging	1.00
R1378:Olfr1208	UTSW	2	88897026	missense	probably benign	0.01
R1570:Olfr1208	UTSW	2	88896946	missense	probably damaging	1.00
R2056:Olfr1208	UTSW	2	88896761	missense	probably damaging	1.00
R2092:Olfr1208	UTSW	2	88897267	missense	probably damaging	0.99
R2185:Olfr1208	UTSW	2	88896703	missense	probably damaging	0.99
R5223:Olfr1208	UTSW	2	88897334	missense	probably benign	0.03
R5479:Olfr1208	UTSW	2	88896691	missense	probably benign	0.13
R6463:Olfr1208	UTSW	2	88897118	missense	probably benign	0.00
R6859:Olfr1208	UTSW	2	88896934	missense	probably benign
R7347:Olfr1208	UTSW	2	88897271	missense	possibly damaging	0.51
R7352:Olfr1208	UTSW	2	88896718	missense	probably damaging	1.00
R7544:Olfr1208	UTSW	2	88897361	missense	probably damaging	1.00
R7713:Olfr1208	UTSW	2	88897778	start gained	probably benign
R7842:Olfr1208	UTSW	2	88896961	missense	possibly damaging	0.89
R8137:Olfr1208	UTSW	2	88896669	makesense	probably null
R8168:Olfr1208	UTSW	2	88896776	missense	probably benign	0.09
R8556:Olfr1208	UTSW	2	88897038	nonsense	probably null
R8967:Olfr1208	UTSW	2	88897500	nonsense	probably null
R9092:Olfr1208	UTSW	2	88896977	missense	probably damaging	1.00
R9221:Olfr1208	UTSW	2	88896911	missense	probably benign
Z1176:Olfr1208	UTSW	2	88897061	missense	probably damaging	1.00
Z1177:Olfr1208	UTSW	2	88896800	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTAGAAAGAGCTTTGCGGCG -3'
(R):5'- TCTTTGGTGCCACTGAGATATTC -3'

Sequencing Primer
(F):5'- GGCTCTCTGATGACCTGGTC -3'
(R):5'- TGCCACTGAGATATTCATCTTGG -3'

Posted On

2019-12-20