Mutagenetix > Incidental Mutations

Incidental Mutation 'R4747:Olfr1031'

357156

Institutional Source

Beutler Lab

Gene Symbol

Olfr1031

Ensembl Gene

ENSMUSG00000043267

Gene Name

olfactory receptor 1031

Synonyms

GA_x6K02T2Q125-47470765-47471775, MOR200-1

MMRRC Submission

042029-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R4747 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85990304-85993704 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85991927 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 37 (T37A)

Ref Sequence

ENSEMBL: ENSMUSP00000149225 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050942] [ENSMUST00000056849] [ENSMUST00000216807]

Predicted Effect

probably damaging
Transcript: ENSMUST00000050942
AA Change: T37A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000059256
Gene: ENSMUSG00000043267
AA Change: T37A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	1.1e-55	PFAM
Pfam:7tm_1	40	289	6.6e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056849

SMART Domains

Protein: ENSMUSP00000053309
Gene: ENSMUSG00000044923

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	314	2.4e-58	PFAM
Pfam:7tm_1	47	296	3.2e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216807
AA Change: T37A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	A	T	6: 149,326,894	E479D	probably damaging	Het
4933402D24Rik	A	G	1: 63,756,409		probably benign	Het
Acadvl	G	T	11: 70,012,508	N340K	probably damaging	Het
Adgrl4	T	A	3: 151,507,440	N372K	probably benign	Het
Adh1	G	A	3: 138,288,881	G321S	probably damaging	Het
Ankrd26	G	T	6: 118,527,757	N730K	probably benign	Het
Aoc2	A	T	11: 101,328,820		probably null	Het
Arhgef4	A	G	1: 34,723,274	E537G	unknown	Het
Ccdc7b	T	C	8: 129,178,235	V118A	probably benign	Het
Ccdc88b	T	A	19: 6,856,141	R219W	probably damaging	Het
Ccdc97	T	C	7: 25,718,923		probably null	Het
Cnot1	T	C	8: 95,774,682	N86S	probably benign	Het
Comp	T	C	8: 70,376,702	C310R	probably damaging	Het
Crtc2	A	T	3: 90,260,211	N281Y	probably damaging	Het
Cryl1	T	C	14: 57,313,102	K102E	probably damaging	Het
Csf2ra	G	A	19: 61,226,053	R225*	probably null	Het
Dao	A	T	5: 114,012,632	D99V	probably benign	Het
Dgkd	A	G	1: 87,934,167	T815A	probably damaging	Het
Dhrs7	T	C	12: 72,653,118	T247A	probably benign	Het
Dnah7c	G	C	1: 46,533,168	D934H	probably damaging	Het
Dnajc15	T	C	14: 77,844,456	Y82C	probably benign	Het
Dnajc4	T	C	19: 6,989,504	Q152R	probably damaging	Het
Dsc1	T	C	18: 20,094,558	K541R	probably damaging	Het
Elp4	G	A	2: 105,794,607	R196C	probably damaging	Het
Epha8	GC	G	4: 136,938,695		probably null	Het
Ercc6	T	C	14: 32,569,907	V1076A	probably benign	Het
Fgd4	T	C	16: 16,423,929	Y677C	probably damaging	Het
Fndc3b	C	A	3: 27,428,965	C1028F	probably damaging	Het
Folr1	T	A	7: 101,863,977	D37V	probably damaging	Het
Gabrr3	T	A	16: 59,447,914		probably null	Het
Garem1	C	A	18: 21,129,943	V605L	probably benign	Het
Gbp7	A	T	3: 142,543,017	D347V	probably damaging	Het
Gdpd4	A	G	7: 97,961,633	T87A	possibly damaging	Het
Gm12258	C	A	11: 58,859,596	H532Q	probably damaging	Het
Gm4788	A	T	1: 139,698,184	C792S	probably damaging	Het
Herc2	A	G	7: 56,106,393	E727G	possibly damaging	Het
Hfm1	G	A	5: 106,917,523	H97Y	probably benign	Het
Idua	G	T	5: 108,681,036	R335L	probably damaging	Het
Ifi207	A	G	1: 173,729,067	S702P	probably benign	Het
Kif16b	A	T	2: 142,857,426	V78D	probably damaging	Het
Klra17	T	A	6: 129,872,269	D114V	probably damaging	Het
Krt76	A	G	15: 101,885,745	S481P	probably damaging	Het
Lhfpl5	A	G	17: 28,579,976	D153G	probably damaging	Het
Med21	T	A	6: 146,649,202	D70E	possibly damaging	Het
Mroh3	A	T	1: 136,185,499	M739K	probably benign	Het
Myo1a	A	G	10: 127,714,438	E549G	probably damaging	Het
Narfl	A	T	17: 25,780,353	Y247F	probably benign	Het
Neu1	A	G	17: 34,934,383	D294G	possibly damaging	Het
Nmur2	A	T	11: 56,040,279	I202K	probably benign	Het
Nop2	T	A	6: 125,137,094	D174E	probably benign	Het
Ogfr	A	T	2: 180,594,423	H267L	probably damaging	Het
Olfr796	G	T	10: 129,608,184	A99E	possibly damaging	Het
P2ry13	T	A	3: 59,209,887	I157F	probably benign	Het
Pank4	T	C	4: 154,979,532	V660A	probably damaging	Het
Pax6	C	A	2: 105,696,502	P251Q	probably benign	Het
Pcdhb13	T	C	18: 37,444,815	Y749H	probably damaging	Het
Pcdhga3	C	A	18: 37,676,746	Q751K	probably benign	Het
Pcnt	C	T	10: 76,436,465	E186K	possibly damaging	Het
Pecam1	A	T	11: 106,684,246	F613I	probably benign	Het
Pias2	T	C	18: 77,152,792	*615Q	probably null	Het
Plb1	A	T	5: 32,349,659	M1193L	probably benign	Het
Pomgnt1	T	C	4: 116,156,199	L506P	probably damaging	Het
Qrfp	T	C	2: 31,808,840	T27A	probably damaging	Het
Relb	C	A	7: 19,627,922		probably null	Het
Rgl1	G	T	1: 152,524,699	C685*	probably null	Het
Ric8b	A	G	10: 84,917,764	Y8C	probably benign	Het
Rrp36	G	A	17: 46,669,967	A161V	possibly damaging	Het
Samd9l	G	A	6: 3,375,504	Q586*	probably null	Het
Sbf1	C	T	15: 89,302,713	D821N	probably damaging	Het
Sept8	G	C	11: 53,536,718	A255P	probably damaging	Het
Skp2	T	C	15: 9,113,839	T329A	possibly damaging	Het
Slc15a2	C	T	16: 36,772,136	V220M	probably damaging	Het
Slc25a11	T	A	11: 70,645,956	T63S	possibly damaging	Het
Sowahc	T	C	10: 59,223,161	I373T	probably benign	Het
Sptbn2	T	A	19: 4,748,154	M1969K	probably benign	Het
St14	G	A	9: 31,103,757	T315M	possibly damaging	Het
Tagap	G	A	17: 7,932,198	R284H	probably benign	Het
Tdpoz3	T	A	3: 93,826,169	S50R	possibly damaging	Het
Thoc5	A	G	11: 4,904,187	D182G	probably damaging	Het
Tinag	A	G	9: 76,996,956	V395A	probably benign	Het
Tmc8	A	G	11: 117,792,724	S702G	probably benign	Het
Tmem202	A	G	9: 59,519,194	S230P	possibly damaging	Het
Tmem203	T	C	2: 25,255,752	V28A	probably benign	Het
Traf3ip1	A	T	1: 91,527,757	S647C	probably damaging	Het
Tram1	A	T	1: 13,589,646	I26N	probably damaging	Het
Ttc6	A	T	12: 57,674,692	D989V	possibly damaging	Het
Ttll6	A	G	11: 96,145,546	T334A	possibly damaging	Het
Ttn	A	T	2: 76,919,742	D3654E	probably damaging	Het
Ufd1	T	G	16: 18,821,082	V112G	probably damaging	Het
Usp9y	A	T	Y: 1,391,284	Y629N	possibly damaging	Het
Vmn2r1	A	G	3: 64,081,846	I69V	probably benign	Het
Zfp180	A	T	7: 24,105,821	Y555F	probably damaging	Het
Zfp438	T	C	18: 5,214,403	N185S	probably benign	Het
Zfp445	C	T	9: 122,857,150	V15I	possibly damaging	Het
Zfp462	A	G	4: 55,013,476	E1814G	probably benign	Het

Other mutations in Olfr1031

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02104:Olfr1031	APN	2	85992386	missense	probably damaging	1.00
IGL02475:Olfr1031	APN	2	85992032	missense	probably benign	0.19
IGL03230:Olfr1031	APN	2	85992239	missense	probably benign	0.00
IGL03405:Olfr1031	APN	2	85991886	missense	possibly damaging	0.84
PIT4151001:Olfr1031	UTSW	2	85992194	missense	probably damaging	0.96
PIT4366001:Olfr1031	UTSW	2	85992041	missense	probably damaging	1.00
R0344:Olfr1031	UTSW	2	85992382	nonsense	probably null
R1168:Olfr1031	UTSW	2	85992684	missense	probably damaging	1.00
R1170:Olfr1031	UTSW	2	85992696	missense	probably damaging	1.00
R2345:Olfr1031	UTSW	2	85991822	missense	probably benign	0.01
R2915:Olfr1031	UTSW	2	85992045	missense	probably damaging	1.00
R3498:Olfr1031	UTSW	2	85992430	missense	probably benign	0.43
R4058:Olfr1031	UTSW	2	85992232	missense	possibly damaging	0.87
R4859:Olfr1031	UTSW	2	85992731	missense	probably damaging	0.96
R4991:Olfr1031	UTSW	2	85992287	missense	probably damaging	0.99
R5438:Olfr1031	UTSW	2	85992581	missense	probably damaging	1.00
R6362:Olfr1031	UTSW	2	85991941	missense	probably damaging	1.00
R7458:Olfr1031	UTSW	2	85992650	missense	probably damaging	1.00
R7535:Olfr1031	UTSW	2	85991901	missense	probably benign	0.37
R8807:Olfr1031	UTSW	2	85992828	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- AAATTGTTGCCTTCTTTATTGCTGG -3'
(R):5'- GCCATCAGAGCCAGGATGTA -3'

Sequencing Primer
(F):5'- TTCTTTATTGCTGGTCTATTCTGAC -3'
(R):5'- CCATCAGAGCCAGGATGTAGAATTC -3'

Posted On

2015-11-11