Mutagenetix > Incidental Mutation

Incidental Mutation 'R8752:Or5w20'

663896

Institutional Source

Beutler Lab

Gene Symbol

Or5w20

Ensembl Gene

ENSMUSG00000048197

Gene Name

olfactory receptor family 5 subfamily W member 20

Synonyms

Olfr1153, MOR177-7, GA_x6K02T2Q125-49395950-49396882

MMRRC Submission

068595-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.231) question?

Stock #

R8752 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87726521-87727477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87726591 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 16 (I16T)

Ref Sequence

ENSEMBL: ENSMUSP00000150945 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052300] [ENSMUST00000217436]

AlphaFold

A2AVC0

Predicted Effect

probably damaging
Transcript: ENSMUST00000052300
AA Change: I24T

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000057839
Gene: ENSMUSG00000048197
AA Change: I24T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	38	315	4.9e-45	PFAM
Pfam:7tm_1	48	297	5.9e-17	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217436
AA Change: I16T

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)

Meta Mutation Damage Score

0.6696

Coding Region Coverage

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

Validation Efficiency

100% (55/55)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	C	11: 109,704,396 (GRCm39)	K82R	probably damaging	Het
Acad8	A	T	9: 26,896,853 (GRCm39)	M202K	probably damaging	Het
Adam29	A	T	8: 56,325,328 (GRCm39)	C375*	probably null	Het
Adat2	A	T	10: 13,432,604 (GRCm39)	E35D	probably benign	Het
Afm	A	C	5: 90,700,424 (GRCm39)	E600D	probably benign	Het
Ahnak	T	A	19: 8,992,901 (GRCm39)	D4728E	probably damaging	Het
Ak7	AAGGAG	AAG	12: 105,713,476 (GRCm39)		probably benign	Het
Ankrd28	C	A	14: 31,477,699 (GRCm39)		probably benign	Het
Ankrd31	A	T	13: 96,916,879 (GRCm39)	H131L	probably damaging	Het
Ano5	T	C	7: 51,196,617 (GRCm39)	F183L	probably damaging	Het
Asah1	G	A	8: 41,813,314 (GRCm39)	S33L	possibly damaging	Het
Catsperg2	T	C	7: 29,404,744 (GRCm39)	D773G	possibly damaging	Het
Ccdc47	A	G	11: 106,095,818 (GRCm39)	Y293H	probably damaging	Het
Cd302	A	G	2: 60,102,529 (GRCm39)	F30S	probably damaging	Het
Ces1c	C	G	8: 93,846,964 (GRCm39)	A243P	probably damaging	Het
Deptor	A	T	15: 55,044,280 (GRCm39)	T149S	probably benign	Het
Dnah14	G	A	1: 181,455,581 (GRCm39)	R902H	probably benign	Het
Dnah5	A	G	15: 28,290,365 (GRCm39)	I1252V	probably benign	Het
Dnah7c	A	G	1: 46,711,701 (GRCm39)	I2643V	probably benign	Het
Dnajc4	C	T	19: 6,966,801 (GRCm39)	V177I	probably benign	Het
Efhc1	A	T	1: 21,059,692 (GRCm39)	N581Y	probably benign	Het
Espl1	A	G	15: 102,214,759 (GRCm39)	T767A	probably damaging	Het
Etv6	A	G	6: 134,243,391 (GRCm39)	E382G	probably benign	Het
Foxd4	A	T	19: 24,878,094 (GRCm39)	D35E	probably damaging	Het
Gata2	T	C	6: 88,177,513 (GRCm39)	V181A	possibly damaging	Het
Gm5114	A	T	7: 39,057,927 (GRCm39)	M564K	probably damaging	Het
Gpr45	A	T	1: 43,071,842 (GRCm39)	I162F	possibly damaging	Het
Hic1	A	G	11: 75,060,206 (GRCm39)	F47S	probably benign	Het
Hsf1	C	A	15: 76,384,344 (GRCm39)	S417*	probably null	Het
Id4	A	T	13: 48,415,065 (GRCm39)	H31L	possibly damaging	Het
Il12rb2	T	C	6: 67,328,265 (GRCm39)	S322G	probably damaging	Het
Lcn11	T	C	2: 25,668,138 (GRCm39)	Y99H	probably damaging	Het
Mipol1	G	A	12: 57,372,367 (GRCm39)	R142Q	probably damaging	Het
Mpp2	A	G	11: 101,976,129 (GRCm39)	S10P	probably benign	Het
Muc15	A	T	2: 110,561,758 (GRCm39)	N65Y	possibly damaging	Het
Nav3	T	C	10: 109,596,165 (GRCm39)		probably benign	Het
Ndst3	C	T	3: 123,342,684 (GRCm39)	R709Q	probably damaging	Het
Nek11	G	T	9: 105,225,207 (GRCm39)	Q102K	probably benign	Het
Nhsl1	A	G	10: 18,407,113 (GRCm39)	N1416D	probably benign	Het
Or13p3	A	C	4: 118,567,083 (GRCm39)	T160P	probably damaging	Het
Or2v1	T	A	11: 49,025,505 (GRCm39)	V162E	possibly damaging	Het
Or4c111	T	C	2: 88,844,231 (GRCm39)	Y59C	probably damaging	Het
Or5p72	T	C	7: 108,022,480 (GRCm39)	I234T	probably benign	Het
Parp4	G	T	14: 56,886,073 (GRCm39)	E1717D	unknown	Het
Pla2g4d	A	T	2: 120,099,248 (GRCm39)		probably null	Het
Pramel52-ps	A	T	5: 94,529,354 (GRCm39)	R41S	possibly damaging	Het
Psmc2	A	G	5: 22,001,533 (GRCm39)	I107V	probably benign	Het
Rhod	G	T	19: 4,476,121 (GRCm39)	T210N	probably damaging	Het
Setx	A	T	2: 29,048,992 (GRCm39)	D2006V	probably damaging	Het
Sfpq	T	A	4: 126,919,969 (GRCm39)	M541K	possibly damaging	Het
Sorbs1	C	T	19: 40,349,872 (GRCm39)		probably null	Het
Sv2b	C	A	7: 74,855,842 (GRCm39)	M149I	possibly damaging	Het
Svil	T	A	18: 5,060,366 (GRCm39)		probably benign	Het
Vmn1r216	G	T	13: 23,283,880 (GRCm39)	V188F	probably damaging	Het
Vmn2r27	A	G	6: 124,201,018 (GRCm39)	F313S	probably benign	Het
Vmn2r44	A	G	7: 8,370,805 (GRCm39)	F747S	probably damaging	Het
Vmn2r95	T	C	17: 18,661,738 (GRCm39)	S495P	probably damaging	Het
Xpo5	C	T	17: 46,547,838 (GRCm39)		probably benign	Het
Zscan20	A	C	4: 128,479,480 (GRCm39)	C1004G	probably damaging	Het

Other mutations in Or5w20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01075:Or5w20	APN	2	87,727,265 (GRCm39)	missense	probably benign	0.00
IGL02024:Or5w20	APN	2	87,727,243 (GRCm39)	missense	possibly damaging	0.81
IGL02219:Or5w20	APN	2	87,727,317 (GRCm39)	missense	possibly damaging	0.93
IGL02693:Or5w20	APN	2	87,726,877 (GRCm39)	missense	probably damaging	1.00
R0121:Or5w20	UTSW	2	87,727,434 (GRCm39)	missense	possibly damaging	0.93
R0315:Or5w20	UTSW	2	87,727,410 (GRCm39)	missense	probably damaging	1.00
R0446:Or5w20	UTSW	2	87,727,199 (GRCm39)	missense	possibly damaging	0.51
R0472:Or5w20	UTSW	2	87,726,837 (GRCm39)	missense	possibly damaging	0.47
R0720:Or5w20	UTSW	2	87,727,013 (GRCm39)	missense	probably benign	0.31
R1579:Or5w20	UTSW	2	87,727,286 (GRCm39)	missense	probably benign	0.05
R1968:Or5w20	UTSW	2	87,727,383 (GRCm39)	missense	probably damaging	1.00
R3909:Or5w20	UTSW	2	87,727,293 (GRCm39)	splice site	probably null
R4936:Or5w20	UTSW	2	87,727,157 (GRCm39)	missense	probably benign	0.06
R5520:Or5w20	UTSW	2	87,726,753 (GRCm39)	unclassified	probably benign
R5585:Or5w20	UTSW	2	87,727,019 (GRCm39)	missense	possibly damaging	0.54
R6176:Or5w20	UTSW	2	87,727,280 (GRCm39)	missense	probably benign	0.18
R6272:Or5w20	UTSW	2	87,727,001 (GRCm39)	missense	probably benign	0.00
R6451:Or5w20	UTSW	2	87,726,935 (GRCm39)	missense	probably damaging	1.00
R7312:Or5w20	UTSW	2	87,726,755 (GRCm39)	missense	possibly damaging	0.54
R7350:Or5w20	UTSW	2	87,726,753 (GRCm39)	unclassified	probably benign
R8060:Or5w20	UTSW	2	87,727,317 (GRCm39)	missense	probably damaging	1.00
R9474:Or5w20	UTSW	2	87,726,693 (GRCm39)	missense	probably benign	0.00
R9710:Or5w20	UTSW	2	87,726,902 (GRCm39)	missense	probably damaging	1.00
Z1088:Or5w20	UTSW	2	87,726,977 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TGTGCTGTTTCCTGAAGACCAAC -3'
(R):5'- TGTTCTTGAATATAAGGCCCACC -3'

Sequencing Primer
(F):5'- TTCCTGAAGACCAACAGTTTACAGG -3'
(R):5'- ACATCTTGGGTCCAACTGCAGTAG -3'

Posted On

2021-03-08