Mutagenetix > Incidental Mutations

Incidental Mutation 'R5878:Olfr750'

455673

Institutional Source

Beutler Lab

Gene Symbol

Olfr750

Ensembl Gene

ENSMUSG00000035932

Gene Name

olfactory receptor 750

Synonyms

MOR103-18, GA_x6K02T2PMLR-6808276-6807281

MMRRC Submission

044084-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R5878 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51066301-51074435 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51070992 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 134 (Y134H)

Ref Sequence

ENSEMBL: ENSMUSP00000150180 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048478] [ENSMUST00000216202]

Predicted Effect

probably damaging
Transcript: ENSMUST00000048478
AA Change: Y134H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000036596
Gene: ENSMUSG00000035932
AA Change: Y134H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	4.5e-49	PFAM
Pfam:7TM_GPCR_Srsx	37	183	1.3e-6	PFAM
Pfam:7tm_1	43	293	6.1e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216202
AA Change: Y134H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

99% (66/67)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,692,960	S387T	probably benign	Het
Abca12	A	T	1: 71,346,633	N275K	possibly damaging	Het
Abhd6	G	A	14: 8,028,286	V6I	probably benign	Het
Afap1l2	T	C	19: 56,915,675	T727A	probably benign	Het
Aggf1	T	C	13: 95,369,557	E174G	probably benign	Het
Ahnak	T	G	19: 9,008,342	L2330R	probably damaging	Het
Arfgef2	A	G	2: 166,870,217	T1205A	probably benign	Het
Ccdc3	T	C	2: 5,229,016	L217P	probably benign	Het
Cfap54	T	C	10: 92,964,561	D1595G	probably benign	Het
Cps1	G	T	1: 67,157,878		probably null	Het
Fam120b	A	G	17: 15,402,240	D160G	probably damaging	Het
Fam172a	T	A	13: 77,952,067	V129E	probably damaging	Het
Fezf1	C	A	6: 23,247,581	R165L	possibly damaging	Het
Fkbp15	A	T	4: 62,306,908	L838H	probably benign	Het
Frmd3	G	A	4: 74,153,610	G243D	probably damaging	Het
Gldc	A	T	19: 30,143,467		probably null	Het
Gm10188	T	C	1: 132,229,202		probably benign	Het
Gm5190	T	A	12: 113,397,239		noncoding transcript	Het
Gria1	T	C	11: 57,317,802		probably null	Het
Hdhd5	A	G	6: 120,514,524	L206P	probably damaging	Het
Herc2	A	G	7: 56,124,248	N1149S	probably benign	Het
Inca1	G	A	11: 70,695,982		probably benign	Het
Iqch	G	A	9: 63,547,990	S175F	probably damaging	Het
Itpr3	T	G	17: 27,110,862	D1543E	probably benign	Het
Khk	T	A	5: 30,930,875		probably null	Het
Kiz	C	T	2: 146,889,601	S337L	probably damaging	Het
Lzts3	G	A	2: 130,636,539	T213I	probably damaging	Het
Mab21l2	T	A	3: 86,546,718	D325V	probably damaging	Het
Mctp2	A	G	7: 72,214,108	S336P	probably benign	Het
Me3	T	A	7: 89,848,006	L405Q	probably benign	Het
Mgst2	A	T	3: 51,661,230		probably benign	Het
Myh2	A	G	11: 67,192,504	E1431G	probably damaging	Het
Naip6	A	G	13: 100,299,673	S781P	probably damaging	Het
Nr3c2	A	G	8: 76,908,268		probably null	Het
Olfr509	A	T	7: 108,645,739	L279Q	probably damaging	Het
Olfr986	C	T	9: 40,187,571	T152I	probably benign	Het
Otop1	G	T	5: 38,277,822	R132L	possibly damaging	Het
Parg	T	A	14: 32,217,662	D548E	possibly damaging	Het
Pcdhga4	G	T	18: 37,687,686	G763W	probably benign	Het
Pde10a	A	G	17: 8,949,372	N9S	possibly damaging	Het
Pi4k2a	T	C	19: 42,100,641	I147T	probably benign	Het
Polh	T	A	17: 46,194,325	T122S	probably damaging	Het
Ptpn13	T	C	5: 103,477,118	V96A	possibly damaging	Het
Ptpn6	C	A	6: 124,728,785	C132F	probably damaging	Het
Rbm19	T	A	5: 120,132,867	V585E	probably damaging	Het
Rp1l1	C	T	14: 64,028,906	P647L	probably benign	Het
Rrp1b	A	G	17: 32,047,675	E72G	probably damaging	Het
Shcbp1	A	T	8: 4,748,742	H392Q	probably benign	Het
Skiv2l	C	T	17: 34,846,117	R371Q	possibly damaging	Het
Slc13a5	G	A	11: 72,253,391	T287I	possibly damaging	Het
Slc22a27	T	A	19: 7,926,757	E5V	probably benign	Het
Slc38a2	A	G	15: 96,692,584	V293A	probably damaging	Het
Slco6d1	T	A	1: 98,463,836		probably benign	Het
Sri	G	C	5: 8,059,353	D46H	probably damaging	Het
Tango6	A	G	8: 106,689,168	D207G	possibly damaging	Het
Tigd4	T	C	3: 84,594,442	M222T	probably benign	Het
Tmem229a	T	C	6: 24,955,173	D194G	probably benign	Het
Trank1	T	C	9: 111,366,685	V1259A	possibly damaging	Het
Trdv5	T	C	14: 54,148,798	D70G	probably benign	Het
Trim52	T	A	14: 106,106,941	M11K	probably damaging	Het
Wdr62	A	G	7: 30,241,347	M882T	probably benign	Het
Ybx3	A	G	6: 131,367,763		probably null	Het
Zfand2b	A	G	1: 75,170,510		probably benign	Het
Zfp91	T	A	19: 12,770,320	T480S	possibly damaging	Het

Other mutations in Olfr750

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02024:Olfr750	APN	14	51071309	missense	probably benign	0.02
IGL03179:Olfr750	APN	14	51071010	missense	probably benign	0.01
IGL03047:Olfr750	UTSW	14	51071156	missense	possibly damaging	0.66
R0519:Olfr750	UTSW	14	51071157	missense	probably damaging	1.00
R1503:Olfr750	UTSW	14	51070734	missense	probably damaging	1.00
R1966:Olfr750	UTSW	14	51071157	missense	probably damaging	1.00
R2179:Olfr750	UTSW	14	51070781	missense	probably benign	0.00
R2249:Olfr750	UTSW	14	51070413	nonsense	probably null
R5940:Olfr750	UTSW	14	51070722	missense	probably damaging	1.00
R6709:Olfr750	UTSW	14	51070829	missense	probably damaging	1.00
R7157:Olfr750	UTSW	14	51071159	missense	possibly damaging	0.49
RF013:Olfr750	UTSW	14	51071012	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGTCAGCCTCCTCCAGTC -3'
(R):5'- CCTGCCTCGAGATTCTGATCAC -3'

Sequencing Primer
(F):5'- TTGGTACATGCCAGGTGAAGC -3'
(R):5'- ACTTCTGTCATCATTCCGAAGATG -3'

Posted On

2017-02-10