Mutagenetix > Incidental Mutation

Incidental Mutation 'R5109:Or5p55'

393742

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

042697-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R5109 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107566606-107567538 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107567104 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 167 (S167P)

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: S167P

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000076485
Gene: ENSMUSG00000095301
AA Change: S167P

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: S167P

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.2%

Validation Efficiency

95% (78/82)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	T	C	5: 90,391,395 (GRCm39)	S1841G	possibly damaging	Het
Anxa10	T	C	8: 62,516,093 (GRCm39)	E193G	possibly damaging	Het
Ap3d1	T	C	10: 80,545,284 (GRCm39)	S1056G	probably benign	Het
Apbb1	T	C	7: 105,214,242 (GRCm39)	N62D	probably damaging	Het
Apobec2	A	T	17: 48,730,022 (GRCm39)	Y215N	probably damaging	Het
Apobec2	T	A	17: 48,730,024 (GRCm39)	Y214F	probably damaging	Het
Appl2	A	T	10: 83,436,871 (GRCm39)	V630E	probably benign	Het
Bud23	T	C	5: 135,089,877 (GRCm39)		probably benign	Het
Cacna1b	A	T	2: 24,580,797 (GRCm39)	M683K	possibly damaging	Het
Cbfa2t2	T	A	2: 154,373,293 (GRCm39)	D187E	probably damaging	Het
Cfap54	G	T	10: 92,773,753 (GRCm39)	F96L	probably benign	Het
Cimap1a	A	T	7: 140,429,461 (GRCm39)	S197C	probably benign	Het
Crebbp	A	G	16: 3,906,295 (GRCm39)		probably benign	Het
Crocc	C	T	4: 140,755,722 (GRCm39)	R1102Q	probably damaging	Het
Dcaf12	T	C	4: 41,298,329 (GRCm39)	D273G	possibly damaging	Het
Dchs1	T	C	7: 105,414,221 (GRCm39)	T865A	probably benign	Het
Dhfr	A	T	13: 92,491,788 (GRCm39)	I8F	probably damaging	Het
Dnaja2	A	T	8: 86,279,887 (GRCm39)	F97L	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Doc2b	T	C	11: 75,667,967 (GRCm39)	D261G	probably benign	Het
Ear1	A	G	14: 44,056,485 (GRCm39)	Y128H	probably benign	Het
Elac2	T	A	11: 64,883,142 (GRCm39)	I171N	probably damaging	Het
Entpd3	C	A	9: 120,395,380 (GRCm39)	N454K	possibly damaging	Het
Flrt3	A	G	2: 140,502,663 (GRCm39)	S322P	possibly damaging	Het
Fn1	C	T	1: 71,688,394 (GRCm39)	C170Y	probably damaging	Het
Gabbr1	T	A	17: 37,382,920 (GRCm39)		probably benign	Het
Gm7247	T	G	14: 51,602,774 (GRCm39)	S37A	probably damaging	Het
Gm8775	T	A	3: 4,277,008 (GRCm39)		noncoding transcript	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Gria4	A	C	9: 4,472,168 (GRCm39)	N440K	probably damaging	Het
H2-T22	T	A	17: 36,350,113 (GRCm39)	R334*	probably null	Het
Ift172	T	C	5: 31,423,330 (GRCm39)	D817G	probably benign	Het
Igkv9-124	T	A	6: 67,919,348 (GRCm39)	R21S	possibly damaging	Het
Itgam	G	A	7: 127,712,390 (GRCm39)	V846I	probably benign	Het
Kif11	T	A	19: 37,373,063 (GRCm39)	M94K	possibly damaging	Het
Krtcap2	T	C	3: 89,154,085 (GRCm39)	V2A	probably benign	Het
Lrrc47	A	G	4: 154,101,933 (GRCm39)	D400G	probably damaging	Het
Man2a1	T	A	17: 65,059,443 (GRCm39)	V1110E	probably benign	Het
Mfsd9	T	A	1: 40,813,365 (GRCm39)	I317F	probably damaging	Het
Mindy4	A	T	6: 55,193,730 (GRCm39)		probably null	Het
Mrpl53	A	G	6: 83,086,541 (GRCm39)	T82A	probably damaging	Het
Myo3b	A	G	2: 69,925,637 (GRCm39)	K35E	possibly damaging	Het
Nalcn	A	G	14: 123,515,650 (GRCm39)	V1717A	possibly damaging	Het
Ncoa2	A	G	1: 13,257,070 (GRCm39)	V143A	probably damaging	Het
Ndufa9	A	C	6: 126,809,520 (GRCm39)		probably null	Het
Or10ag60	G	A	2: 87,438,319 (GRCm39)	G196R	possibly damaging	Het
Or10ag60	G	A	2: 87,437,755 (GRCm39)	A8T	possibly damaging	Het
Or12e9	A	G	2: 87,201,878 (GRCm39)	M1V	probably null	Het
Or5k17	A	G	16: 58,746,422 (GRCm39)	S171P	probably benign	Het
Or6c202	T	C	10: 128,996,106 (GRCm39)	Y249C	probably damaging	Het
Or7g28	A	T	9: 19,272,438 (GRCm39)	I71N	probably damaging	Het
Or9g8	G	A	2: 85,607,668 (GRCm39)	V247M	probably damaging	Het
Pde4b	G	T	4: 102,458,741 (GRCm39)	A466S	probably damaging	Het
Pfkfb3	A	T	2: 11,491,162 (GRCm39)		probably benign	Het
Ppp1r21	A	G	17: 88,866,268 (GRCm39)	K355E	probably damaging	Het
Psme4	T	A	11: 30,741,095 (GRCm39)	Y90*	probably null	Het
Rbms1	G	A	2: 60,612,284 (GRCm39)	L161F	probably damaging	Het
Rdh16f2	A	G	10: 127,702,672 (GRCm39)	D83G	probably damaging	Het
Sec16b	C	T	1: 157,392,361 (GRCm39)	R910*	probably null	Het
Sema4c	CTGGGCTT	C	1: 36,591,381 (GRCm39)		probably null	Het
Spata31e5	T	C	1: 28,816,636 (GRCm39)	I465M	possibly damaging	Het
Stambp	A	G	6: 83,540,803 (GRCm39)		probably null	Het
Tcf21	T	C	10: 22,695,558 (GRCm39)	N82S	probably damaging	Het
Tlr2	A	T	3: 83,745,030 (GRCm39)	V351D	probably damaging	Het
Tmem39a	G	A	16: 38,411,326 (GRCm39)	G359D	probably damaging	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Vmn2r17	C	A	5: 109,577,342 (GRCm39)	F464L	probably benign	Het
Vmn2r49	T	A	7: 9,710,204 (GRCm39)	T843S	probably benign	Het
Vmn2r7	T	C	3: 64,598,088 (GRCm39)	D823G	probably null	Het
Wrnip1	T	A	13: 33,000,319 (GRCm39)	L442Q	probably damaging	Het
Zbtb38	G	T	9: 96,569,062 (GRCm39)	S674Y	probably damaging	Het
Zfp639	T	G	3: 32,574,585 (GRCm39)		probably null	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
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
R8953:Or5p55	UTSW	7	107,567,251 (GRCm39)	missense	probably benign	0.00
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'- GCTTGTATAGCCCAATTCTGCATC -3'
(R):5'- TCAGTGGAGCGCATCTTCAG -3'

Sequencing Primer
(F):5'- CTGCATCACAGTGACATTTGGGAC -3'
(R):5'- CATCTTCAGGATGGTGATGAGAATG -3'

Posted On

2016-06-15