Mutagenetix > Incidental Mutations

Incidental Mutation 'R2092:Olfr598'

231841

Institutional Source

Beutler Lab

Gene Symbol

Olfr598

Ensembl Gene

ENSMUSG00000073951

Gene Name

olfactory receptor 598

Synonyms

GA_x6K02T2PBJ9-6037823-6038782, MOR23-4P, MOR23-5

MMRRC Submission

040097-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.286) question?

Stock #

R2092 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103323568-103329888 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 103329109 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 208 (V208M)

Ref Sequence

ENSEMBL: ENSMUSP00000149199 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098202] [ENSMUST00000214765]

AlphaFold

Q7TRR2

Predicted Effect

probably damaging
Transcript: ENSMUST00000098202
AA Change: V208M

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

SMART Domains

Protein: ENSMUSP00000100474
Gene: ENSMUSG00000073951
AA Change: V208M

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	315	2.3e-89	PFAM
Pfam:7TM_GPCR_Srsx	41	312	9e-7	PFAM
Pfam:7tm_1	47	297	2e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214765
AA Change: V208M

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,674,937	C1321*	probably null	Het
Abca8b	A	G	11: 109,966,708	F673L	possibly damaging	Het
Adam19	T	G	11: 46,060,904		probably null	Het
AI987944	T	C	7: 41,374,617	T313A	possibly damaging	Het
Akap13	A	T	7: 75,610,570	I178F	probably benign	Het
Alb	G	GA	5: 90,463,983		probably null	Het
Bod1l	A	G	5: 41,831,517	S416P	probably damaging	Het
Casr	A	T	16: 36,510,043	Y310N	possibly damaging	Het
Cela3a	T	C	4: 137,404,426	N152S	probably benign	Het
Chrdl2	T	A	7: 100,020,977	C102*	probably null	Het
Col4a4	G	A	1: 82,498,946	S554L	unknown	Het
Col6a4	T	C	9: 106,060,331	K1392R	probably damaging	Het
Dab1	T	G	4: 104,678,777	Y128D	probably damaging	Het
Dars	A	T	1: 128,374,018	M293K	probably damaging	Het
Dlec1	T	C	9: 119,121,844	F493L	possibly damaging	Het
Dmbt1	G	T	7: 131,050,018	W330L	probably damaging	Het
Dnah11	A	T	12: 118,012,716	M831K	possibly damaging	Het
Dock7	T	C	4: 99,009,308	N715S	possibly damaging	Het
Edc4	T	A	8: 105,887,528	L12Q	probably damaging	Het
Edem2	T	C	2: 155,709,049	M333V	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,022,334		probably null	Het
Fto	C	A	8: 91,409,687	Y194*	probably null	Het
Gnptab	T	G	10: 88,440,305	Y1151*	probably null	Het
Grm1	A	G	10: 10,689,225	L1113P	probably benign	Het
Hnrnpa0	T	C	13: 58,127,800	K172E	probably damaging	Het
Ifitm1	A	G	7: 140,969,514	D70G	probably damaging	Het
Irx4	C	A	13: 73,265,486	T25K	probably damaging	Het
Kif22	C	T	7: 127,033,630	D195N	probably damaging	Het
Lrp2	C	T	2: 69,536,021	D245N	probably benign	Het
Lyz1	C	T	10: 117,288,599	R144Q	probably benign	Het
Macf1	T	A	4: 123,383,178	T6055S	probably damaging	Het
Mrgpra2b	C	T	7: 47,464,160	V249I	probably benign	Het
Myh9	G	A	15: 77,764,350	Q80*	probably null	Het
Myo6	G	T	9: 80,245,682	R199L	probably damaging	Het
Naglu	G	A	11: 101,076,720	V499I	possibly damaging	Het
Nfkbie	T	C	17: 45,558,539	F140S	probably benign	Het
Olfr1208	A	G	2: 88,897,267	F110S	probably damaging	Het
Olfr1454	T	A	19: 13,063,802	Y130*	probably null	Het
Olfr510	CAAATA	CA	7: 108,667,662		probably null	Het
Olfr67	A	T	7: 103,788,072	F68L	possibly damaging	Het
Olfr935	A	T	9: 38,995,189	L82Q	probably damaging	Het
Otop1	A	T	5: 38,299,766	I290F	probably damaging	Het
P2rx2	C	T	5: 110,341,141	D203N	probably damaging	Het
Pcdhb10	T	A	18: 37,414,187	I772N	probably benign	Het
Pnliprp1	A	G	19: 58,741,184	H423R	probably benign	Het
Ptk2	A	T	15: 73,236,191	Y56*	probably null	Het
Rapgef3	T	C	15: 97,760,723	D134G	probably damaging	Het
Scaf11	A	C	15: 96,415,827	S1358A	probably damaging	Het
Scn9a	T	C	2: 66,533,376	M844V	probably damaging	Het
Sh3tc1	T	C	5: 35,700,658	E1121G	probably damaging	Het
Slc25a15	T	C	8: 22,380,934	T176A	probably damaging	Het
Slc29a4	T	A	5: 142,718,855	I384N	probably damaging	Het
Slc40a1	A	T	1: 45,909,454	D555E	probably benign	Het
Smc5	T	C	19: 23,238,899	I446V	probably benign	Het
St6gal2	T	C	17: 55,510,266	Y477H	probably damaging	Het
Syngr1	A	T	15: 80,115,940	Q84L	possibly damaging	Het
Tedc1	T	C	12: 113,157,720	L187P	probably damaging	Het
Tg	A	G	15: 66,849,607	I322V	probably null	Het
Thap12	T	C	7: 98,716,449	V608A	possibly damaging	Het
Tmbim6	T	C	15: 99,402,068	S22P	probably damaging	Het
Ttc3	C	T	16: 94,442,832	P1232S	probably benign	Het
Upk3a	A	G	15: 85,018,085	T38A	probably damaging	Het
Utrn	A	T	10: 12,678,698	M1549K	probably benign	Het
Vmn1r176	C	T	7: 23,835,153	D192N	probably damaging	Het
Vmn1r198	A	G	13: 22,354,715	T35A	possibly damaging	Het
Xkr7	C	T	2: 153,054,063	S279L	probably damaging	Het
Zer1	G	A	2: 30,108,274	L342F	probably damaging	Het
Zfp641	G	T	15: 98,293,712	T31N	probably benign	Het
Zfp74	G	A	7: 29,953,924		probably benign	Het

Other mutations in Olfr598

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00955:Olfr598	APN	7	103329321	missense	probably damaging	1.00
IGL01911:Olfr598	APN	7	103329273	missense	probably benign	0.30
IGL02225:Olfr598	APN	7	103329166	missense	probably damaging	1.00
IGL02687:Olfr598	APN	7	103329400	nonsense	probably null
IGL03214:Olfr598	APN	7	103328666	missense	possibly damaging	0.95
R0544:Olfr598	UTSW	7	103328651	missense	probably damaging	1.00
R0555:Olfr598	UTSW	7	103328963	missense	probably benign
R1081:Olfr598	UTSW	7	103329038	missense	probably damaging	1.00
R1802:Olfr598	UTSW	7	103328647	missense	probably benign	0.09
R2197:Olfr598	UTSW	7	103328624	nonsense	probably null
R3974:Olfr598	UTSW	7	103329078	missense	probably damaging	0.98
R4227:Olfr598	UTSW	7	103328819	missense	probably damaging	0.97
R4809:Olfr598	UTSW	7	103328523	nonsense	probably null
R4977:Olfr598	UTSW	7	103328833	missense	probably benign	0.00
R5324:Olfr598	UTSW	7	103329050	missense	probably damaging	1.00
R5478:Olfr598	UTSW	7	103328825	missense	probably damaging	1.00
R6238:Olfr598	UTSW	7	103328908	missense	possibly damaging	0.95
R6797:Olfr598	UTSW	7	103329121	missense	probably benign
R7062:Olfr598	UTSW	7	103329086	missense	probably benign	0.10
R7079:Olfr598	UTSW	7	103329184	missense	probably benign	0.00
R7539:Olfr598	UTSW	7	103328494	missense	probably benign	0.01
R8669:Olfr598	UTSW	7	103329074	missense	probably benign	0.00
R8854:Olfr598	UTSW	7	103328816	missense	probably damaging	0.98
R8878:Olfr598	UTSW	7	103329005	missense	possibly damaging	0.67
R9297:Olfr598	UTSW	7	103329376	missense	probably damaging	1.00
R9318:Olfr598	UTSW	7	103329376	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTCTGAGGCACACATCTATTC -3'
(R):5'- ACAACATGGCCAAGACGGTG -3'

Sequencing Primer
(F):5'- ACCCTCAATTCTTGGTCGGATGATAG -3'
(R):5'- CTGTGCAGGTGTTAAAGG -3'

Posted On

2014-09-18