Mutagenetix > Incidental Mutation

Incidental Mutation 'R6283:Olfr1352'

508062

Institutional Source

Beutler Lab

Gene Symbol

Olfr1352

Ensembl Gene

ENSMUSG00000046493

Gene Name

olfactory receptor 1352

Synonyms

MOR139-1, GA_x6K02T2QGN0-2828447-2827518

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R6283 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78981050-78987903 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78984279 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 163 (V163A)

Ref Sequence

ENSEMBL: ENSMUSP00000054355 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058991] [ENSMUST00000203973]

AlphaFold

Q8VGX5

Predicted Effect

probably benign
Transcript: ENSMUST00000058991
AA Change: V163A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000054355
Gene: ENSMUSG00000046493
AA Change: V163A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	4.7e-52	PFAM
Pfam:7TM_GPCR_Srsx	35	305	9.1e-6	PFAM
Pfam:7tm_1	41	290	4.7e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203973

SMART Domains

Protein: ENSMUSP00000144895
Gene: ENSMUSG00000046493

Domain	Start	End	E-Value	Type
Pfam:7tm_4	1	122	6.1e-25	PFAM
Pfam:7TM_GPCR_Srx	1	123	7.5e-5	PFAM
Pfam:7TM_GPCR_Srsx	2	123	4.5e-8	PFAM
Pfam:7tm_1	8	123	2.1e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219714

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

100% (59/59)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	G	A	9: 103,282,635	R14*	probably null	Het
Acsf3	C	A	8: 122,785,955	R372S	probably damaging	Het
Adamts20	A	G	15: 94,351,721	S472P	probably benign	Het
Bhlhe40	T	C	6: 108,665,031	L312P	probably damaging	Het
Ccdc180	A	G	4: 45,902,486	E305G	possibly damaging	Het
Ccdc83	T	A	7: 90,236,407	R257*	probably null	Het
Cd209e	G	A	8: 3,849,212	Q167*	probably null	Het
Cd300e	G	A	11: 115,054,554	T138I	probably benign	Het
Ces2c	A	T	8: 104,849,699	M115L	probably benign	Het
Cfap61	T	A	2: 146,129,102		probably null	Het
Chd1l	G	A	3: 97,587,167	A399V	probably damaging	Het
Cic	C	T	7: 25,286,034	S301L	probably damaging	Het
Cks2	A	G	13: 51,645,459	H16R	probably benign	Het
Copa	A	T	1: 172,118,848	H953L	possibly damaging	Het
Ctdsp2	T	C	10: 126,995,880	V145A	possibly damaging	Het
Cyp2j13	A	G	4: 96,056,837	V377A	possibly damaging	Het
Dhx57	A	G	17: 80,274,805	V404A	probably benign	Het
Dock2	T	C	11: 34,707,325	S340G	probably damaging	Het
Ggps1	A	G	13: 14,057,794		probably null	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm11444	T	C	11: 85,846,791		probably null	Het
Gm853	A	G	4: 130,221,741	S5P	probably benign	Het
Grina	A	G	15: 76,248,551	T173A	possibly damaging	Het
Hcrtr1	G	A	4: 130,135,340	T223I	probably benign	Het
Igsf10	T	A	3: 59,319,449	T2268S	probably damaging	Het
Ino80d	C	T	1: 63,062,126	R447Q	probably damaging	Het
Inpp4b	C	T	8: 81,770,833	T94M	probably damaging	Het
Itga2	A	G	13: 114,869,250	Y465H	probably damaging	Het
Knl1	A	G	2: 119,070,286	T823A	probably damaging	Het
Krtap4-16	A	G	11: 99,851,035	S180P	unknown	Het
Lpar6	A	T	14: 73,238,857	D86V	probably damaging	Het
Muc5ac	C	A	7: 141,816,864	C2500*	probably null	Het
Mzf1	T	C	7: 13,053,369		probably benign	Het
Olfr1032	G	T	2: 86,008,099	V108L	possibly damaging	Het
Olfr1176	T	A	2: 88,339,658	I31N	probably benign	Het
Olfr1311	A	C	2: 112,021,260	M198R	possibly damaging	Het
Otogl	T	G	10: 107,790,500	E1501A	probably damaging	Het
Pcdh10	T	A	3: 45,381,554	S768T	possibly damaging	Het
Pcnx2	G	T	8: 125,877,586	Q644K	probably damaging	Het
Pdzd9	T	A	7: 120,660,226	I180F	possibly damaging	Het
Pinx1	A	C	14: 63,878,172	N152T	probably benign	Het
Prr14l	T	C	5: 32,830,264	E629G	probably benign	Het
Qpctl	T	A	7: 19,148,420	I104F	probably benign	Het
Rabep1	C	T	11: 70,917,679	A444V	probably damaging	Het
Rnf150	A	G	8: 82,990,554	Y230C	probably damaging	Het
Slc25a27	A	C	17: 43,657,730	V152G	probably damaging	Het
Swt1	A	G	1: 151,384,333	S772P	possibly damaging	Het
Tenm4	A	G	7: 96,874,494	T1711A	probably benign	Het
Tfap2d	G	C	1: 19,104,478	G52R	probably benign	Het
Tmem265	T	G	7: 127,564,872	V86G	possibly damaging	Het
Trpm8	C	T	1: 88,348,332	H551Y	probably benign	Het
Ttc6	T	G	12: 57,702,262	Y1327D	possibly damaging	Het
Uevld	G	T	7: 46,937,981	Q324K	possibly damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r73	C	T	7: 85,871,841	M306I	probably benign	Het
Vmn2r93	T	A	17: 18,304,104	M120K	probably benign	Het
Zfp804b	T	A	5: 6,769,908	I1016F	probably benign	Het
Zfp90	T	C	8: 106,425,394	C580R	probably damaging	Het

Other mutations in Olfr1352

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01468:Olfr1352	APN	10	78983862	missense	probably damaging	0.96
IGL01865:Olfr1352	APN	10	78984678	missense	possibly damaging	0.94
R0196:Olfr1352	UTSW	10	78984189	missense	possibly damaging	0.89
R0362:Olfr1352	UTSW	10	78984386	missense	probably benign	0.00
R1574:Olfr1352	UTSW	10	78983986	missense	probably damaging	1.00
R1574:Olfr1352	UTSW	10	78983986	missense	probably damaging	1.00
R2982:Olfr1352	UTSW	10	78984440	missense	probably damaging	1.00
R4724:Olfr1352	UTSW	10	78984522	missense	probably damaging	1.00
R5000:Olfr1352	UTSW	10	78984680	missense	probably benign	0.00
R5085:Olfr1352	UTSW	10	78984094	missense	probably benign	0.03
R5145:Olfr1352	UTSW	10	78984309	missense	probably benign	0.35
R5455:Olfr1352	UTSW	10	78984537	missense	possibly damaging	0.59
R5777:Olfr1352	UTSW	10	78984678	missense	possibly damaging	0.78
R5822:Olfr1352	UTSW	10	78984189	missense	possibly damaging	0.89
R7242:Olfr1352	UTSW	10	78984497	nonsense	probably null
R7504:Olfr1352	UTSW	10	78984660	missense	possibly damaging	0.78
R8198:Olfr1352	UTSW	10	78984609	missense	probably benign	0.03
R8268:Olfr1352	UTSW	10	78983997	missense	probably damaging	0.98
R8684:Olfr1352	UTSW	10	78984378	missense	probably benign	0.06
R8928:Olfr1352	UTSW	10	78984713	missense
R9408:Olfr1352	UTSW	10	78984386	missense	probably benign	0.01
R9626:Olfr1352	UTSW	10	78984379	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- TTTGTGGAATTGGACAACTTCC -3'
(R):5'- GCACAGGTGGAAAATGCTTTATAC -3'

Sequencing Primer
(F):5'- GGAATTGGACAACTTCCTCCTGG -3'
(R):5'- CCTGAACTGTGGACATTGCTCG -3'

Posted On

2018-03-15