Mutagenetix > Incidental Mutation

Incidental Mutation 'R8251:Or5p50'

640241

Institutional Source

Beutler Lab

Gene Symbol

Or5p50

Ensembl Gene

ENSMUSG00000095910

Gene Name

olfactory receptor family 5 subfamily P member 50

Synonyms

MOR204-21, GA_x6K02T2PBJ9-10152980-10152036, Olfr469

MMRRC Submission

067677-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R8251 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107421730-107422674 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107421776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 300 (I300T)

Ref Sequence

ENSEMBL: ENSMUSP00000075122 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075704]

AlphaFold

Q8VF66

Predicted Effect

probably damaging
Transcript: ENSMUST00000075704
AA Change: I300T

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000075122
Gene: ENSMUSG00000095910
AA Change: I300T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	1.3e-53	PFAM
Pfam:7tm_1	44	293	2.4e-22	PFAM

Meta Mutation Damage Score

0.5338

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (50/50)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	A	T	9: 103,968,906 (GRCm39)	D463V	possibly damaging	Het
Adamtsl4	C	T	3: 95,591,884 (GRCm39)	R68Q	probably damaging	Het
Ankrd12	A	T	17: 66,291,554 (GRCm39)	M1293K	possibly damaging	Het
Arhgap21	T	C	2: 20,854,221 (GRCm39)	T1724A	probably benign	Het
C1qtnf12	T	C	4: 156,050,916 (GRCm39)	I295T	probably damaging	Het
Cacna1s	G	T	1: 136,014,461 (GRCm39)	G623W	probably damaging	Het
Cemip2	T	C	19: 21,784,765 (GRCm39)	V416A	possibly damaging	Het
Cenpe	T	A	3: 134,957,445 (GRCm39)		probably null	Het
Cep85l	A	T	10: 53,157,450 (GRCm39)	I751N	probably damaging	Het
Corin	T	A	5: 72,514,269 (GRCm39)	D468V	probably damaging	Het
Ctsr	A	G	13: 61,310,592 (GRCm39)	V51A	probably damaging	Het
Dnah14	A	C	1: 181,492,430 (GRCm39)	E1630A	probably damaging	Het
Dsg4	C	A	18: 20,604,221 (GRCm39)	A896E	probably damaging	Het
Ear2	T	C	14: 44,340,477 (GRCm39)	L45P	probably benign	Het
Fshr	T	G	17: 89,507,913 (GRCm39)	D43A	probably benign	Het
Gata6	G	A	18: 11,054,670 (GRCm39)	G200S	probably benign	Het
Gnaq	T	A	19: 16,312,419 (GRCm39)	M227K	probably damaging	Het
Ifit1bl1	T	C	19: 34,572,232 (GRCm39)	Q75R	possibly damaging	Het
Impg2	A	G	16: 56,079,960 (GRCm39)	E479G	possibly damaging	Het
Ints7	C	T	1: 191,353,545 (GRCm39)	P957L	unknown	Het
Jmjd1c	T	C	10: 67,075,068 (GRCm39)	V73A	noncoding transcript	Het
Kansl1	A	G	11: 104,315,186 (GRCm39)	I284T	probably benign	Het
Kcnj9	A	G	1: 172,154,089 (GRCm39)	S12P	probably benign	Het
Krt16	A	G	11: 100,139,196 (GRCm39)		probably null	Het
Lrguk	A	T	6: 34,093,374 (GRCm39)	T632S	probably benign	Het
Man2b1	G	A	8: 85,821,758 (GRCm39)	V687M	probably damaging	Het
Mroh5	T	C	15: 73,655,002 (GRCm39)	E653G	probably benign	Het
Nabp1	A	T	1: 51,516,737 (GRCm39)	S44T	probably benign	Het
Nt5dc3	C	A	10: 86,656,091 (GRCm39)	H256Q	probably damaging	Het
Or1j15	A	C	2: 36,459,467 (GRCm39)	N286H	probably damaging	Het
Or4a81	A	T	2: 89,619,567 (GRCm39)	I43N	probably damaging	Het
Pkd2	T	C	5: 104,646,353 (GRCm39)	V720A	probably benign	Het
Pnpla6	T	A	8: 3,582,399 (GRCm39)	N706K	probably benign	Het
Polr1b	C	A	2: 128,965,086 (GRCm39)	P724Q	probably damaging	Het
Rbpjl	A	G	2: 164,255,854 (GRCm39)	E366G	probably damaging	Het
Runx1t1	A	G	4: 13,846,947 (GRCm39)	T244A	possibly damaging	Het
Slitrk3	C	T	3: 72,956,729 (GRCm39)	R681H	possibly damaging	Het
Slu7	A	G	11: 43,330,128 (GRCm39)	Y185C	probably damaging	Het
Snupn	T	A	9: 56,888,137 (GRCm39)	F231L	probably damaging	Het
Srpk2	G	A	5: 23,729,266 (GRCm39)	P458S	probably benign	Het
St3gal5	T	A	6: 72,126,144 (GRCm39)	F330I	probably benign	Het
Taf3	T	C	2: 9,922,962 (GRCm39)	D878G	possibly damaging	Het
Tex44	A	G	1: 86,354,936 (GRCm39)	N282D	probably benign	Het
Tmem126a	T	C	7: 90,100,094 (GRCm39)	I150V	probably benign	Het
Trbv21	A	G	6: 41,179,540 (GRCm39)		probably benign	Het
Vmn2r70	A	T	7: 85,215,186 (GRCm39)	L116*	probably null	Het
Vps36	A	G	8: 22,682,932 (GRCm39)	T16A	probably benign	Het
Wdr17	C	A	8: 55,110,267 (GRCm39)	G837W	probably damaging	Het
Zfp397	T	C	18: 24,093,361 (GRCm39)	V282A	probably benign	Het

Other mutations in Or5p50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02205:Or5p50	APN	7	107,421,798 (GRCm39)	missense	probably damaging	1.00
IGL02252:Or5p50	APN	7	107,422,353 (GRCm39)	missense	probably benign	0.04
R0365:Or5p50	UTSW	7	107,422,124 (GRCm39)	nonsense	probably null
R0647:Or5p50	UTSW	7	107,422,218 (GRCm39)	missense	probably benign	0.02
R0863:Or5p50	UTSW	7	107,422,581 (GRCm39)	missense	probably benign
R1830:Or5p50	UTSW	7	107,422,578 (GRCm39)	missense	probably benign	0.02
R2189:Or5p50	UTSW	7	107,421,822 (GRCm39)	missense	probably benign	0.09
R2316:Or5p50	UTSW	7	107,422,007 (GRCm39)	missense	probably benign	0.25
R6187:Or5p50	UTSW	7	107,421,781 (GRCm39)	missense	probably benign
R6305:Or5p50	UTSW	7	107,421,864 (GRCm39)	missense	probably benign	0.01
R6774:Or5p50	UTSW	7	107,422,395 (GRCm39)	missense	probably benign	0.06
R7019:Or5p50	UTSW	7	107,422,365 (GRCm39)	missense	probably benign	0.04
R7205:Or5p50	UTSW	7	107,421,782 (GRCm39)	missense	probably benign	0.01
R7466:Or5p50	UTSW	7	107,422,129 (GRCm39)	nonsense	probably null
R8128:Or5p50	UTSW	7	107,422,632 (GRCm39)	missense	probably damaging	1.00
R8252:Or5p50	UTSW	7	107,421,776 (GRCm39)	missense	probably damaging	0.98
R8253:Or5p50	UTSW	7	107,421,776 (GRCm39)	missense	probably damaging	0.98
R8791:Or5p50	UTSW	7	107,422,557 (GRCm39)	missense	possibly damaging	0.64
R9008:Or5p50	UTSW	7	107,422,628 (GRCm39)	missense	possibly damaging	0.53
R9381:Or5p50	UTSW	7	107,421,812 (GRCm39)	missense	probably damaging	1.00
R9509:Or5p50	UTSW	7	107,422,440 (GRCm39)	missense	probably benign
Z1176:Or5p50	UTSW	7	107,422,200 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGAGCATCTACCCTCTGTAGTTG -3'
(R):5'- TGAAGATGCGCTCCACTGAG -3'

Sequencing Primer
(F):5'- GTTGCTAAAAAGCTTCCAAGTGGC -3'
(R):5'- AGAAGGCCTTCTCCACCTG -3'

Posted On

2020-07-28