Mutagenetix > Incidental Mutations

Incidental Mutation 'R1662:Olfr193'

186882

Institutional Source

Beutler Lab

Gene Symbol

Olfr193

Ensembl Gene

ENSMUSG00000060057

Gene Name

olfactory receptor 193

Synonyms

Olfr1540-ps1, MOR183-7P, GA_x54KRFPKG5P-55338697-55337768, MOR113-7P, MOR113-7P

MMRRC Submission

039698-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R1662 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59107924-59111881 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59110604 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 2 (E2G)

Ref Sequence

ENSEMBL: ENSMUSP00000146393 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076262] [ENSMUST00000207935] [ENSMUST00000208455]

AlphaFold

Q7TS43

Predicted Effect

probably benign
Transcript: ENSMUST00000076262
AA Change: E2G

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

SMART Domains

Protein: ENSMUSP00000075611
Gene: ENSMUSG00000060057
AA Change: E2G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2.3e-48	PFAM
Pfam:7tm_1	41	290	5.4e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207935
AA Change: E2G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000208455
AA Change: E2G

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.3%

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
5730409E04Rik	T	A	4: 126,611,682	M1K	probably null	Het
5730507C01Rik	A	C	12: 18,531,966	R119S	possibly damaging	Het
Abca1	T	A	4: 53,090,251		probably null	Het
Aff1	G	A	5: 103,841,057	G830D	probably damaging	Het
AI987944	T	C	7: 41,374,449	T369A	possibly damaging	Het
Aoah	A	G	13: 21,000,113		probably null	Het
Arhgap40	C	G	2: 158,539,270	C349W	probably damaging	Het
Atic	T	A	1: 71,576,127	D438E	probably benign	Het
Barhl2	A	T	5: 106,453,499	M338K	probably benign	Het
Btd	T	C	14: 31,666,790	V156A	probably damaging	Het
Ccdc82	T	C	9: 13,262,772	V319A	probably damaging	Het
Celsr1	G	T	15: 86,031,062	N903K	probably damaging	Het
Cenpf	T	A	1: 189,657,771	N1288I	probably damaging	Het
Ciao1	G	A	2: 127,244,937	T252I	probably benign	Het
Cma2	T	C	14: 55,973,116	C87R	probably damaging	Het
Cops7a	T	A	6: 124,962,438	R83W	probably damaging	Het
Cxcr6	A	T	9: 123,810,548	M205L	possibly damaging	Het
Dcc	A	G	18: 71,420,338	L749P	probably benign	Het
Dync1i2	C	T	2: 71,250,979	T484I	possibly damaging	Het
Epas1	A	T	17: 86,829,027	K742N	probably damaging	Het
Evc2	A	G	5: 37,348,750	T138A	probably benign	Het
F5	T	C	1: 164,207,888	I1877T	probably damaging	Het
Fat1	T	G	8: 44,953,164	V984G	probably benign	Het
Fat4	T	A	3: 38,980,779	V2860D	probably damaging	Het
Foxn4	C	T	5: 114,256,894	R324Q	probably benign	Het
Gapdhs	C	T	7: 30,737,002	R120H	probably damaging	Het
Gcnt3	T	C	9: 70,034,377	D303G	probably benign	Het
Gm16432	A	G	1: 178,046,986	K140E	unknown	Het
Gng11	A	T	6: 4,008,066	Y43F	probably benign	Het
Hectd4	A	C	5: 121,317,245	M651L	probably benign	Het
Ifngr2	T	A	16: 91,560,596	Y200N	probably benign	Het
Iqgap3	T	C	3: 88,098,401	V512A	probably benign	Het
Kdm2a	A	C	19: 4,328,212	D187E	probably damaging	Het
Klhl8	A	G	5: 103,872,045	V370A	probably damaging	Het
Kmt2a	G	A	9: 44,836,670		probably benign	Het
Krt12	C	A	11: 99,420,824	V184F	probably benign	Het
Lrrc8c	A	T	5: 105,606,757	I133F	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261		probably null	Het
Map1a	C	G	2: 121,306,408	S2568R	possibly damaging	Het
Mbnl1	C	A	3: 60,625,172	Q301K	probably damaging	Het
Med12l	A	T	3: 59,093,617	K724N	probably damaging	Het
Mroh2a	A	C	1: 88,241,618	I672L	probably benign	Het
Mybph	C	T	1: 134,193,636	P45S	probably benign	Het
Myo15	T	A	11: 60,501,701	S2157T	probably damaging	Het
Olfr113	G	T	17: 37,575,273	T50K	probably damaging	Het
Olfr374	T	C	8: 72,109,779	V71A	probably benign	Het
Olfr721-ps1	T	A	14: 14,407,880	Y217*	probably null	Het
Otogl	A	G	10: 107,798,357	I1419T	possibly damaging	Het
Ovol1	A	T	19: 5,551,639	F118L	probably damaging	Het
Pak7	T	C	2: 136,116,760	D136G	probably damaging	Het
Pik3r2	T	C	8: 70,770,606	Y417C	probably damaging	Het
Ppp2r2a	T	C	14: 67,016,603	N372S	probably benign	Het
Prss30	G	T	17: 23,972,832	N238K	possibly damaging	Het
Prss33	C	A	17: 23,834,811		probably null	Het
Ptpn4	T	C	1: 119,765,058	E187G	probably damaging	Het
Ptprg	A	T	14: 12,207,357	N100I	probably damaging	Het
Rbpms2	T	C	9: 65,651,042	V130A	probably benign	Het
Rdh7	A	T	10: 127,888,612	M1K	probably null	Het
Rtp3	A	C	9: 110,986,683	S205A	probably benign	Het
Ryr3	G	T	2: 112,709,273	D3207E	probably damaging	Het
Scn9a	T	A	2: 66,483,459	T1972S	probably benign	Het
Scnn1b	T	C	7: 121,902,328	V122A	probably benign	Het
Slc15a4	A	G	5: 127,608,979	L213S	probably damaging	Het
Slc27a5	T	A	7: 12,991,246	I425F	probably damaging	Het
Spata31d1b	A	G	13: 59,716,628	D530G	probably benign	Het
Tcf25	T	A	8: 123,381,550	S115T	probably benign	Het
Tet2	A	G	3: 133,466,852	L1883P	possibly damaging	Het
Trim21	T	A	7: 102,561,898	R205*	probably null	Het
Ttc23	G	T	7: 67,725,321		probably null	Het
Unc13d	T	C	11: 116,068,673	K658R	probably null	Het
Vmn1r43	A	G	6: 89,869,590	F305L	possibly damaging	Het
Vmn2r2	A	T	3: 64,117,130	C677S	probably benign	Het
Wnt5a	T	C	14: 28,518,343	M150T	probably benign	Het
Ythdc1	G	A	5: 86,828,122		probably null	Het
Zcchc6	T	C	13: 59,799,903	E466G	possibly damaging	Het
Zdbf2	A	T	1: 63,304,249	R596*	probably null	Het

Other mutations in Olfr193

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Olfr193	APN	16	59110598	missense	probably benign
IGL01613:Olfr193	APN	16	59109921	missense	probably damaging	1.00
IGL02280:Olfr193	APN	16	59110332	missense	probably damaging	1.00
IGL02533:Olfr193	APN	16	59109684	missense	probably benign
IGL02544:Olfr193	APN	16	59110144	missense	probably damaging	1.00
IGL02576:Olfr193	APN	16	59109771	missense	probably benign
IGL02719:Olfr193	APN	16	59110173	missense	probably benign	0.01
IGL03215:Olfr193	APN	16	59109962	missense	possibly damaging	0.46
IGL03272:Olfr193	APN	16	59110556	missense	probably benign	0.01
PIT4802001:Olfr193	UTSW	16	59110601	missense	probably benign
R0544:Olfr193	UTSW	16	59110225	missense	probably benign	0.03
R0783:Olfr193	UTSW	16	59110169	nonsense	probably null
R1070:Olfr193	UTSW	16	59109819	missense	probably benign	0.08
R1211:Olfr193	UTSW	16	59110160	missense	possibly damaging	0.68
R1754:Olfr193	UTSW	16	59110581	missense	probably benign	0.03
R1765:Olfr193	UTSW	16	59109755	missense	probably damaging	1.00
R1937:Olfr193	UTSW	16	59109794	missense	probably benign	0.11
R2875:Olfr193	UTSW	16	59109802	missense	probably benign	0.01
R2910:Olfr193	UTSW	16	59110181	missense	probably benign	0.00
R2911:Olfr193	UTSW	16	59110181	missense	probably benign	0.00
R5084:Olfr193	UTSW	16	59110073	missense	possibly damaging	0.90
R5700:Olfr193	UTSW	16	59109993	missense	probably damaging	0.99
R7018:Olfr193	UTSW	16	59110607	start codon destroyed	probably null	0.98
R7083:Olfr193	UTSW	16	59110037	missense	probably damaging	1.00
R7572:Olfr193	UTSW	16	59110430	missense	probably damaging	1.00
R7720:Olfr193	UTSW	16	59109771	missense	probably benign
R8045:Olfr193	UTSW	16	59110039	missense	probably benign	0.01
R8869:Olfr193	UTSW	16	59109758	missense
R8960:Olfr193	UTSW	16	59110192	missense	probably benign	0.01
R9045:Olfr193	UTSW	16	59110002	missense	probably benign	0.13
R9049:Olfr193	UTSW	16	59110400	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATTCCAGATGAGAGTGATCAGACCAAG -3'
(R):5'- CCCAGACAACTCTGTAGTACATAGGAGC -3'

Sequencing Primer
(F):5'- TGATCAGACCAAGGTTGCC -3'
(R):5'- TCCCAAGCTACTATAGATTGTAAGG -3'

Posted On

2014-05-09