Mutagenetix > Incidental Mutations

Incidental Mutation 'R0411:Olfr1329'

36647

Institutional Source

Beutler Lab

Gene Symbol

Olfr1329

Ensembl Gene

ENSMUSG00000096705

Gene Name

olfactory receptor 1329

Synonyms

MOR259-2, GA_x6K02T2QD9B-18619941-18620882

MMRRC Submission

038613-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R0411 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118916524-118917465 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118916626 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 280 (N280K)

Ref Sequence

ENSEMBL: ENSMUSP00000071870 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071979]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071979
AA Change: N280K

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000071870
Gene: ENSMUSG00000096705
AA Change: N280K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	4.3e-55	PFAM
Pfam:7TM_GPCR_Srsx	36	306	1.5e-6	PFAM
Pfam:7tm_1	42	291	5.7e-25	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

97% (66/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	A	G	5: 63,896,491		probably benign	Het
6030469F06Rik	A	T	12: 31,184,731		noncoding transcript	Het
Acad11	T	C	9: 104,116,296	F541L	probably damaging	Het
Acin1	G	T	14: 54,646,774	R92S	probably damaging	Het
Appl1	A	G	14: 26,940,256	S490P	probably benign	Het
Aqp9	C	A	9: 71,130,444	V184L	probably benign	Het
Arih1	A	T	9: 59,485,983	I122N	possibly damaging	Het
Bmi1	T	C	2: 18,683,172		probably benign	Het
Bmpr1a	G	A	14: 34,415,877	T391I	possibly damaging	Het
Cacna1s	A	G	1: 136,113,303	K1256E	probably damaging	Het
Cacng3	C	T	7: 122,768,572	P225L	probably damaging	Het
Cd101	A	T	3: 101,018,527		probably null	Het
Cd55	A	G	1: 130,462,557		probably benign	Het
Cenpe	T	C	3: 135,222,255	I258T	probably damaging	Het
Cma2	A	G	14: 55,973,678		probably benign	Het
Ddost	T	A	4: 138,309,653	S176T	probably benign	Het
Ddx19b	A	T	8: 111,023,964		probably null	Het
Dmxl2	A	G	9: 54,378,939	I2681T	probably damaging	Het
Ern1	C	T	11: 106,398,586	E964K	probably benign	Het
Galntl5	C	T	5: 25,220,174	R430C	probably benign	Het
Gga3	A	G	11: 115,587,433	L511P	probably damaging	Het
Gm7271	G	T	5: 76,500,487	V47L	possibly damaging	Het
Gria2	C	T	3: 80,710,858		probably benign	Het
Hmbs	A	T	9: 44,341,652	L28*	probably null	Het
Iffo2	A	G	4: 139,603,221	E220G	probably damaging	Het
Ifi30	A	G	8: 70,764,918		probably benign	Het
Irf2	T	A	8: 46,846,061	C297S	probably benign	Het
Izumo4	T	C	10: 80,703,084	Y94H	probably damaging	Het
Klhdc9	A	G	1: 171,359,785	V215A	probably benign	Het
Kmt2a	T	C	9: 44,819,964		probably benign	Het
Kmt2c	A	T	5: 25,375,957	C513S	probably damaging	Het
Lyg1	A	T	1: 37,949,896	M81K	possibly damaging	Het
Maip1	T	G	1: 57,415,693	W279G	probably damaging	Het
Myo7a	T	C	7: 98,071,937	T1263A	probably benign	Het
Naa15	T	A	3: 51,465,639	I701N	possibly damaging	Het
Ncoa3	A	G	2: 166,068,543	N1292S	probably benign	Het
Necab2	T	A	8: 119,454,240		probably benign	Het
Nfatc1	T	A	18: 80,698,042	I234F	possibly damaging	Het
Olfm1	G	A	2: 28,208,211	R95K	possibly damaging	Het
Olfr1118	A	G	2: 87,309,058	T90A	probably benign	Het
Otoa	T	C	7: 121,156,527		probably null	Het
Padi4	GCTGCGTACCTCCAC	GC	4: 140,748,449		probably benign	Het
Pard6g	A	G	18: 80,117,122	D150G	probably damaging	Het
Pax5	A	G	4: 44,609,783	L215S	probably damaging	Het
Pja2	A	T	17: 64,287,521		probably benign	Het
Plk4	T	A	3: 40,811,219		probably benign	Het
Polr1a	A	T	6: 71,978,421	H1687L	possibly damaging	Het
Ptcd2	G	A	13: 99,343,391	L41F	probably damaging	Het
Ropn1	T	A	16: 34,669,964	S62T	probably benign	Het
Setd1a	T	C	7: 127,796,051		probably benign	Het
Setdb1	T	C	3: 95,327,686	D902G	probably damaging	Het
Sik3	T	A	9: 46,208,770	L719Q	probably damaging	Het
Slc36a1	G	T	11: 55,232,507	V433F	probably benign	Het
Slc6a3	T	C	13: 73,557,050	V220A	possibly damaging	Het
Slc6a5	A	T	7: 49,911,791	R24W	probably damaging	Het
Smox	G	T	2: 131,520,644	R281L	probably benign	Het
Sulf2	G	T	2: 166,093,516	H226N	probably damaging	Het
Syne2	C	T	12: 76,059,584		probably null	Het
Tenm3	C	T	8: 48,287,791	S1210N	possibly damaging	Het
Tns1	A	T	1: 73,925,761	V1237E	probably damaging	Het
Trf	C	T	9: 103,217,501	V92M	probably damaging	Het
Ttn	A	G	2: 76,709,373	V34423A	possibly damaging	Het
Vmn2r118	A	G	17: 55,611,021		probably benign	Het
Vmn2r19	A	G	6: 123,309,744	Y112C	probably damaging	Het
Wdr66	C	T	5: 123,290,054	T538M	probably damaging	Het
Zfp326	G	T	5: 105,878,775	A15S	possibly damaging	Het

Other mutations in Olfr1329

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01064:Olfr1329	APN	4	118916894	missense	possibly damaging	0.67
IGL02065:Olfr1329	APN	4	118916771	missense	probably benign	0.00
IGL02085:Olfr1329	APN	4	118916750	missense	probably damaging	1.00
IGL02092:Olfr1329	APN	4	118916990	missense	possibly damaging	0.72
IGL02557:Olfr1329	APN	4	118917192	missense	probably benign	0.00
R0129:Olfr1329	UTSW	4	118917470	splice site	probably null
R5001:Olfr1329	UTSW	4	118917243	missense	probably damaging	0.97
R5313:Olfr1329	UTSW	4	118916798	missense	probably benign	0.00
R5733:Olfr1329	UTSW	4	118916838	missense	probably benign	0.00
R6153:Olfr1329	UTSW	4	118916747	missense	probably damaging	1.00
R6274:Olfr1329	UTSW	4	118917230	missense	probably benign	0.01
R7671:Olfr1329	UTSW	4	118916986	missense	probably benign	0.02
R8358:Olfr1329	UTSW	4	118916526	makesense	probably null
Z1088:Olfr1329	UTSW	4	118916588	missense	probably damaging	1.00
Z1176:Olfr1329	UTSW	4	118917027	missense	probably benign	0.21
Z1176:Olfr1329	UTSW	4	118917135	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GCACTCTCAGTCTCATGAACATCCC -3'
(R):5'- GTAGCCTGGCTTGCATGGATACTC -3'

Sequencing Primer
(F):5'- CCCAGGTCAAGACGAATGTTG -3'
(R):5'- GCTTGCATGGATACTCATGTC -3'

Posted On

2013-05-09