Mutagenetix > Incidental Mutation

Incidental Mutation 'R8953:Or5p55'

681758

Institutional Source

Beutler Lab

Gene Symbol

Or5p55

Ensembl Gene

ENSMUSG00000095301

Gene Name

olfactory receptor family 5 subfamily P member 55

Synonyms

GA_x6K02T2PBJ9-10296787-10297719, Olfr476, MOR204-3

MMRRC Submission

068789-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R8953 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107566606-107567538 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107567251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 216 (V216I)

Ref Sequence

ENSEMBL: ENSMUSP00000149760 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077249] [ENSMUST00000217173]

AlphaFold

Q8VGI4

Predicted Effect

probably benign
Transcript: ENSMUST00000077249
AA Change: V216I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000076485
Gene: ENSMUSG00000095301
AA Change: V216I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.7e-51	PFAM
Pfam:7tm_1	41	290	4.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217173
AA Change: V216I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

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

Validation Efficiency

100% (64/64)

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
4930590J08Rik	T	C	6: 91,892,002 (GRCm39)	V88A	probably benign	Het
Abca17	C	A	17: 24,518,015 (GRCm39)	V765L	probably benign	Het
Atp2b2	T	A	6: 113,737,630 (GRCm39)	T915S	possibly damaging	Het
Cacna1s	C	T	1: 136,025,170 (GRCm39)	H992Y	possibly damaging	Het
Castor1	A	T	11: 4,171,249 (GRCm39)	I244F	probably benign	Het
Clpp	T	A	17: 57,298,373 (GRCm39)	M113K	probably damaging	Het
Cmklr2	A	G	1: 63,222,272 (GRCm39)	L321P	probably damaging	Het
Csn3	A	G	5: 88,077,809 (GRCm39)	Q105R	possibly damaging	Het
Dcaf1	G	A	9: 106,735,542 (GRCm39)	R830Q	possibly damaging	Het
Dnah17	A	T	11: 118,016,238 (GRCm39)		probably benign	Het
Etv4	A	G	11: 101,662,513 (GRCm39)		probably null	Het
Fos	A	G	12: 85,522,826 (GRCm39)	D246G	probably benign	Het
Foxo1	T	C	3: 52,253,675 (GRCm39)	S613P	probably damaging	Het
Gabra2	A	T	5: 71,163,525 (GRCm39)	C261S	probably damaging	Het
Garem1	A	T	18: 21,264,388 (GRCm39)		probably null	Het
Gmip	T	G	8: 70,269,427 (GRCm39)	L533R	probably damaging	Het
Havcr1	A	G	11: 46,647,006 (GRCm39)	T147A	possibly damaging	Het
Helz2	C	T	2: 180,874,884 (GRCm39)	R1870Q	probably damaging	Het
Itprid2	T	C	2: 79,490,839 (GRCm39)	Y986H	probably damaging	Het
Kcnk3	A	C	5: 30,779,382 (GRCm39)	K144T	probably damaging	Het
Lama5	A	G	2: 179,835,313 (GRCm39)	V1293A	probably damaging	Het
Man2b1	A	G	8: 85,818,539 (GRCm39)	I498V	probably benign	Het
Map6	T	C	7: 98,965,078 (GRCm39)	L289P	probably damaging	Het
Mapk7	G	T	11: 61,383,792 (GRCm39)	D43E	possibly damaging	Het
Medag	A	G	5: 149,350,765 (GRCm39)	Y194C	probably damaging	Het
Mertk	A	G	2: 128,620,716 (GRCm39)		probably benign	Het
Mier3	C	A	13: 111,842,587 (GRCm39)	T136K	probably benign	Het
Ndc1	T	A	4: 107,238,890 (GRCm39)	W242R	probably damaging	Het
Nlrp1b	A	G	11: 71,052,632 (GRCm39)	V932A	probably damaging	Het
Or2m12	T	A	16: 19,105,269 (GRCm39)	M75L	probably benign	Het
Or5w15	A	T	2: 87,568,371 (GRCm39)	M99K	probably benign	Het
Or9a4	G	T	6: 40,548,676 (GRCm39)	A119S	possibly damaging	Het
Otub2	A	T	12: 103,370,585 (GRCm39)	D289V	probably damaging	Het
P2rx3	A	G	2: 84,853,842 (GRCm39)	V133A	possibly damaging	Het
Pde4a	C	A	9: 21,122,030 (GRCm39)	T585K	probably damaging	Het
Pik3c2a	A	T	7: 115,987,320 (GRCm39)	Y534N	probably benign	Het
Pip5kl1	A	G	2: 32,469,991 (GRCm39)	D232G	possibly damaging	Het
Pklr	C	T	3: 89,049,612 (GRCm39)	S234L	probably damaging	Het
Pkn1	T	C	8: 84,410,815 (GRCm39)	K271E	probably damaging	Het
Plch1	T	G	3: 63,639,126 (GRCm39)	H449P	possibly damaging	Het
Pparg	T	C	6: 115,418,507 (GRCm39)	L92P	possibly damaging	Het
Pramel51	A	G	12: 88,144,070 (GRCm39)	C248R	probably benign	Het
Ptgdr2	C	T	19: 10,917,786 (GRCm39)	T101I	probably benign	Het
Rad54l2	A	T	9: 106,570,461 (GRCm39)	H1286Q	probably benign	Het
Ralgapa1	A	G	12: 55,867,546 (GRCm39)	S3P	probably damaging	Het
Rictor	G	A	15: 6,823,928 (GRCm39)	V1598I	probably benign	Het
Rph3al	G	T	11: 75,797,401 (GRCm39)	C98*	probably null	Het
Rpn2	A	G	2: 157,163,746 (GRCm39)	T613A	probably damaging	Het
Rps20	T	A	4: 3,834,617 (GRCm39)	M82L	probably benign	Het
Rusf1	T	G	7: 127,872,678 (GRCm39)	Q423H	probably benign	Het
Sh3bp4	A	G	1: 89,072,159 (GRCm39)	I336V	probably damaging	Het
Slc6a20b	T	C	9: 123,438,254 (GRCm39)	N174S	probably damaging	Het
Spta1	A	G	1: 174,058,241 (GRCm39)	N1903S	probably benign	Het
Tacc2	T	C	7: 130,227,487 (GRCm39)	S1391P	probably benign	Het
Terb1	T	A	8: 105,195,431 (GRCm39)	D570V	probably damaging	Het
Trhde	T	A	10: 114,338,966 (GRCm39)	I615F	probably damaging	Het
Ttc13	T	C	8: 125,402,088 (GRCm39)	N556S	probably damaging	Het
Ttn	T	A	2: 76,568,228 (GRCm39)	D19228V	probably damaging	Het
Unc13c	T	A	9: 73,840,044 (GRCm39)	Y269F	probably benign	Het
Usp33	T	A	3: 152,080,420 (GRCm39)	V517E	possibly damaging	Het
Wee1	A	G	7: 109,723,691 (GRCm39)	D202G	probably benign	Het
Zfp318	T	A	17: 46,731,356 (GRCm39)	S1120T	probably benign	Het
Zfr2	C	A	10: 81,084,271 (GRCm39)	N650K	probably damaging	Het
Znfx1	G	A	2: 166,897,421 (GRCm39)	T501I	probably damaging	Het

Other mutations in Or5p55

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01063:Or5p55	APN	7	107,566,741 (GRCm39)	missense	probably damaging	1.00
IGL01403:Or5p55	APN	7	107,566,828 (GRCm39)	missense	possibly damaging	0.64
IGL01564:Or5p55	APN	7	107,567,198 (GRCm39)	missense	probably benign	0.11
IGL01615:Or5p55	APN	7	107,567,144 (GRCm39)	missense	probably damaging	1.00
IGL01777:Or5p55	APN	7	107,566,709 (GRCm39)	missense	probably damaging	1.00
IGL01999:Or5p55	APN	7	107,566,675 (GRCm39)	missense	probably benign
IGL02239:Or5p55	APN	7	107,567,254 (GRCm39)	missense	probably damaging	1.00
R0636:Or5p55	UTSW	7	107,566,679 (GRCm39)	missense	probably benign	0.00
R1986:Or5p55	UTSW	7	107,566,877 (GRCm39)	missense	probably benign
R5109:Or5p55	UTSW	7	107,567,104 (GRCm39)	missense	probably benign	0.06
R6363:Or5p55	UTSW	7	107,566,957 (GRCm39)	missense	possibly damaging	0.57
R6526:Or5p55	UTSW	7	107,566,669 (GRCm39)	missense	probably benign	0.03
R6907:Or5p55	UTSW	7	107,567,459 (GRCm39)	missense	probably damaging	1.00
R7063:Or5p55	UTSW	7	107,567,411 (GRCm39)	missense	probably benign
R7218:Or5p55	UTSW	7	107,566,874 (GRCm39)	missense	probably benign
R7240:Or5p55	UTSW	7	107,567,395 (GRCm39)	missense	probably benign	0.42
R7444:Or5p55	UTSW	7	107,566,811 (GRCm39)	missense	probably damaging	0.99
R7939:Or5p55	UTSW	7	107,566,986 (GRCm39)	nonsense	probably null
R8060:Or5p55	UTSW	7	107,566,612 (GRCm39)	missense	probably benign
R9159:Or5p55	UTSW	7	107,567,524 (GRCm39)	nonsense	probably null
R9438:Or5p55	UTSW	7	107,567,000 (GRCm39)	missense	probably damaging	1.00
X0025:Or5p55	UTSW	7	107,567,395 (GRCm39)	missense	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- CGCTATGTGGCCATCTGTTC -3'
(R):5'- TGGGGATCACCACTGTGTAG -3'

Sequencing Primer
(F):5'- ACACATATGTCTCCCAGGATCTG -3'
(R):5'- TGGGGATCACCACTGTGTAGAATAC -3'

Posted On

2021-08-31