Mutagenetix > Incidental Mutation

Incidental Mutation 'R7242:Olfr1352'

563300

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: 0.071) question?

Stock #

R7242 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78981050-78987903 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 78984497 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 236 (K236*)

Ref Sequence

ENSEMBL: ENSMUSP00000054355 (fasta)

Gene Model

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

AlphaFold

Q8VGX5

Predicted Effect

probably null
Transcript: ENSMUST00000058991
AA Change: K236*

SMART Domains

Protein: ENSMUSP00000054355
Gene: ENSMUSG00000046493
AA Change: K236*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (73/73)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	A	T	6: 48,931,128	Y354F	probably damaging	Het
1700001J03Rik	A	T	5: 146,184,867	I74N	probably damaging	Het
4921501E09Rik	A	G	17: 33,067,127	Y234H	probably damaging	Het
Abca6	A	T	11: 110,241,653	V272D	possibly damaging	Het
Acot11	A	T	4: 106,762,493	S163R	probably benign	Het
Adcy5	T	C	16: 35,156,835	L246P	probably damaging	Het
Adgra1	A	T	7: 139,847,657		probably null	Het
Adgra2	A	G	8: 27,122,027	T1335A	probably damaging	Het
Armt1	T	C	10: 4,453,475	S187P	probably damaging	Het
Azin1	T	C	15: 38,501,505	M1V	probably null	Het
B430305J03Rik	C	T	3: 61,363,835	C163Y	unknown	Het
Cables1	T	C	18: 11,840,007	S68P	possibly damaging	Het
Cacna1d	A	G	14: 30,178,706	F341L	probably benign	Het
Ccdc90b	T	A	7: 92,572,568	H118Q	probably damaging	Het
Celf1	T	A	2: 91,003,257	C119*	probably null	Het
Cfap57	C	T	4: 118,593,096	V610M	possibly damaging	Het
Chrm4	T	A	2: 91,927,250	M1K	probably null	Het
Chrnd	C	T	1: 87,197,479	T418I	probably damaging	Het
Coch	G	T	12: 51,593,561		probably benign	Het
Cop1	A	G	1: 159,284,548	T345A	probably benign	Het
Cops6	A	G	5: 138,163,580	T96A	probably benign	Het
Corin	T	C	5: 72,305,055	I945V	probably benign	Het
Cyp2c67	G	T	19: 39,617,339	T371N	probably benign	Het
Dap	T	A	15: 31,273,308	*103R	probably null	Het
Defb35	T	A	8: 21,940,757	V49E	unknown	Het
Dmtf1	T	A	5: 9,149,016	D39V	possibly damaging	Het
Dmtn	T	C	14: 70,618,020	T10A	probably damaging	Het
Dnajc1	C	T	2: 18,293,972	E264K	probably benign	Het
Dtx3l	A	T	16: 35,933,401	N278K	possibly damaging	Het
Fam161a	T	A	11: 23,020,037	S72T	possibly damaging	Het
Fnbp4	T	A	2: 90,745,796	S114T	unknown	Het
Focad	T	G	4: 88,309,906	I784S	unknown	Het
Fzd8	A	T	18: 9,214,171	T418S	probably damaging	Het
Gclc	A	G	9: 77,785,371	Y264C	probably benign	Het
Ggn	G	A	7: 29,173,034	C649Y	possibly damaging	Het
Gm10184	G	A	17: 89,910,135	T61I	probably benign	Het
Gys1	A	G	7: 45,439,668		probably null	Het
Hsd3b1	T	C	3: 98,853,210	Y155C	probably damaging	Het
Htatip2	A	G	7: 49,772,606	K191E	probably benign	Het
Ik	A	T	18: 36,748,222	S79C	probably null	Het
Kin	G	A	2: 10,091,793	R151Q	probably benign	Het
Mast4	A	G	13: 102,738,478	S1461P	probably damaging	Het
Melk	T	A	4: 44,360,885	V555E	probably damaging	Het
Met	G	A	6: 17,491,317	C26Y	probably damaging	Het
Mfsd6	A	T	1: 52,709,474	F77L	probably damaging	Het
Mib1	T	A	18: 10,741,011	D86E	probably damaging	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Olfr1120	G	A	2: 87,358,082	V213I	probably benign	Het
Olfr504	T	G	7: 108,565,712	S28R	probably benign	Het
Olfr935	A	G	9: 38,995,141	I98T	probably benign	Het
Patj	A	T	4: 98,591,933	I1296L	probably benign	Het
Pcdh1	C	T	18: 38,203,217	V122M	probably benign	Het
Pcdhac2	A	T	18: 37,144,893	I309F	possibly damaging	Het
Phtf1	A	G	3: 103,998,696	S565G	probably damaging	Het
Plekha2	A	C	8: 25,088,395	F30V	probably damaging	Het
Ptbp1	A	G	10: 79,856,388	M20V	unknown	Het
Pth2r	A	G	1: 65,388,620	D484G	probably benign	Het
Rapgef2	G	A	3: 79,087,903	Q665*	probably null	Het
Scamp1	G	A	13: 94,233,140	T59I	probably benign	Het
Sema4a	T	A	3: 88,450,109	D230V	probably damaging	Het
Snw1	C	T	12: 87,468,645	G45R	possibly damaging	Het
Sox30	T	A	11: 45,984,520		probably null	Het
Sspo	T	A	6: 48,473,952	I2665K	probably benign	Het
Stx5a	T	A	19: 8,755,277	W437R	unknown	Het
Tln1	A	G	4: 43,542,602	V1402A	probably benign	Het
Tpm1	A	G	9: 67,028,101	L244P	probably benign	Het
Try5	T	A	6: 41,313,454	E32V	probably benign	Het
Ttn	T	C	2: 76,721,729	N31188S	probably benign	Het
Tulp1	T	C	17: 28,363,405		probably null	Het
Usp13	T	G	3: 32,865,743		probably null	Het
Vax2	A	G	6: 83,711,316	E7G	possibly damaging	Het
Vmn2r45	A	T	7: 8,485,613	Y139*	probably null	Het
Wisp2	T	C	2: 163,828,852	F93S	probably benign	Het
Zfp423	T	C	8: 87,904,527	D21G	probably benign	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
R6283:Olfr1352	UTSW	10	78984279	missense	probably benign	0.01
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'- GGAAATCCCACACTTCTTCTGTG -3'
(R):5'- ACCCCTAAGAGCCTCTTCAG -3'

Sequencing Primer
(F):5'- CTGTGAATTGAATCAGGTGGCAC -3'
(R):5'- ATCTTTATTCCTCAGGCTGTAGATG -3'

Posted On

2019-06-26