Mutagenetix > Incidental Mutation

Incidental Mutation 'R3410:Or5p63'

258463

Institutional Source

Beutler Lab

Gene Symbol

Or5p63

Ensembl Gene

ENSMUSG00000095929

Gene Name

olfactory receptor family 5 subfamily P member 63

Synonyms

GA_x6K02T2PBJ9-10541702-10540758, Olfr1538-ps1, MOR204-31P, MOR204-31P, Olfr487, MOR204-29P

MMRRC Submission

040628-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R3410 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107810790-107811734 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107811490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 82 (P82L)

Ref Sequence

ENSEMBL: ENSMUSP00000149407 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081996] [ENSMUST00000216489]

AlphaFold

Q7TRU9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081996
AA Change: P82L

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000080657
Gene: ENSMUSG00000095929
AA Change: P82L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	6.1e-50	PFAM
Pfam:7tm_1	44	293	1e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216489
AA Change: P82L

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

Meta Mutation Damage Score

0.7844

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (59/59)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad2	T	C	8: 120,342,708 (GRCm39)	V418A	probably benign	Het
Adamts16	T	C	13: 70,901,345 (GRCm39)	T911A	probably benign	Het
Adgra1	T	C	7: 139,427,619 (GRCm39)	F62S	possibly damaging	Het
Adgra3	A	G	5: 50,159,272 (GRCm39)	V326A	probably damaging	Het
Adgrg6	A	G	10: 14,316,114 (GRCm39)	F569S	probably benign	Het
Alcam	T	C	16: 52,130,261 (GRCm39)	T30A	probably null	Het
Arnt2	G	A	7: 83,924,655 (GRCm39)	R391W	probably damaging	Het
Ascc3	T	C	10: 50,576,196 (GRCm39)	V817A	probably damaging	Het
Atp13a4	G	T	16: 29,232,567 (GRCm39)	T923K	probably damaging	Het
Atp5po	C	T	16: 91,725,794 (GRCm39)	R64H	probably damaging	Het
Ccdc185	T	G	1: 182,576,313 (GRCm39)	Q125H	possibly damaging	Het
Ccdc88a	T	A	11: 29,436,006 (GRCm39)	C10S	probably damaging	Het
Cct2	T	C	10: 116,897,968 (GRCm39)	N73S	probably benign	Het
Clock	G	A	5: 76,377,401 (GRCm39)	Q633*	probably null	Het
Col6a2	T	C	10: 76,439,193 (GRCm39)	I826V	probably benign	Het
Cpsf1	G	T	15: 76,485,981 (GRCm39)	Y396*	probably null	Het
Dnah1	A	T	14: 30,991,774 (GRCm39)	M3076K	possibly damaging	Het
Dxo	A	G	17: 35,057,825 (GRCm39)	N177D	probably damaging	Het
Fbxw28	A	T	9: 109,167,472 (GRCm39)	V95E	possibly damaging	Het
Galnt6	T	C	15: 100,597,018 (GRCm39)	N383D	probably damaging	Het
Gpat2	G	A	2: 127,270,211 (GRCm39)	V75M	probably damaging	Het
Grik5	T	C	7: 24,762,397 (GRCm39)	D198G	probably benign	Het
Gsdmc4	A	G	15: 63,763,895 (GRCm39)	S401P	probably benign	Het
Gspt1	A	T	16: 11,047,109 (GRCm39)	D435E	probably damaging	Het
Hsf2	T	C	10: 57,381,378 (GRCm39)	S266P	probably damaging	Het
Jade2	T	C	11: 51,708,050 (GRCm39)	D721G	probably benign	Het
Klhl7	G	T	5: 24,343,319 (GRCm39)	V212L	probably damaging	Het
Klra17	T	A	6: 129,851,809 (GRCm39)	N21I	probably damaging	Het
L3mbtl3	T	C	10: 26,215,197 (GRCm39)	N196S	unknown	Het
Lama3	G	C	18: 12,546,915 (GRCm39)		probably null	Het
Mcm5	T	C	8: 75,848,272 (GRCm39)	M507T	possibly damaging	Het
Mycbp2	T	C	14: 103,372,553 (GRCm39)	R814G	probably damaging	Het
Nlrp4b	A	G	7: 10,449,456 (GRCm39)	E186G	probably damaging	Het
Nlrp4c	A	G	7: 6,095,569 (GRCm39)	K816E	possibly damaging	Het
Nod1	G	T	6: 54,921,902 (GRCm39)	R139S	probably benign	Het
Nudcd1	T	C	15: 44,284,207 (GRCm39)	M60V	probably benign	Het
Or5b101	G	C	19: 13,005,411 (GRCm39)	A94G	probably benign	Het
Or5p69	A	T	7: 107,967,551 (GRCm39)	I285F	possibly damaging	Het
Or8g28	G	T	9: 39,169,897 (GRCm39)	Q24K	possibly damaging	Het
Ovol2	A	G	2: 144,159,796 (GRCm39)	S82P	probably benign	Het
Ppl	T	C	16: 4,925,381 (GRCm39)	E86G	possibly damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ripk4	T	C	16: 97,545,157 (GRCm39)	T497A	probably benign	Het
Scml4	A	G	10: 42,833,667 (GRCm39)	Y327C	probably damaging	Het
Serpina3n	A	G	12: 104,377,536 (GRCm39)	E263G	possibly damaging	Het
Six4	A	G	12: 73,159,657 (GRCm39)	F101S	probably damaging	Het
Sltm	T	G	9: 70,493,240 (GRCm39)	L728V	probably damaging	Het
Sptb	T	G	12: 76,657,589 (GRCm39)	K1311Q	possibly damaging	Het
Sycp1	T	C	3: 102,748,357 (GRCm39)	K812E	possibly damaging	Het
Tenm4	T	C	7: 96,501,737 (GRCm39)	Y1314H	probably damaging	Het
Tmem67	A	T	4: 12,073,952 (GRCm39)	M288K	probably benign	Het
Toporsl	T	C	4: 52,610,970 (GRCm39)	S288P	probably benign	Het
Ttn	A	C	2: 76,772,749 (GRCm39)	N2415K	possibly damaging	Het
Vmn2r65	T	C	7: 84,595,896 (GRCm39)	I263V	probably benign	Het
Vmn2r89	A	T	14: 51,693,628 (GRCm39)	E326V	probably damaging	Het
Wdr81	A	G	11: 75,343,758 (GRCm39)	I503T	probably damaging	Het

Other mutations in Or5p63

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01356:Or5p63	APN	7	107,810,933 (GRCm39)	missense	probably benign	0.06
IGL03133:Or5p63	APN	7	107,811,594 (GRCm39)	missense	possibly damaging	0.94
IGL03326:Or5p63	APN	7	107,810,837 (GRCm39)	missense	probably benign	0.03
R0141:Or5p63	UTSW	7	107,811,210 (GRCm39)	missense	possibly damaging	0.59
R0344:Or5p63	UTSW	7	107,810,949 (GRCm39)	nonsense	probably null
R0595:Or5p63	UTSW	7	107,810,868 (GRCm39)	missense	probably damaging	1.00
R1427:Or5p63	UTSW	7	107,811,301 (GRCm39)	missense	probably benign	0.07
R2023:Or5p63	UTSW	7	107,811,049 (GRCm39)	missense	probably damaging	1.00
R2065:Or5p63	UTSW	7	107,811,547 (GRCm39)	missense	probably damaging	0.98
R2068:Or5p63	UTSW	7	107,811,547 (GRCm39)	missense	probably damaging	0.98
R4024:Or5p63	UTSW	7	107,810,949 (GRCm39)	nonsense	probably null
R4619:Or5p63	UTSW	7	107,811,301 (GRCm39)	missense	possibly damaging	0.78
R4738:Or5p63	UTSW	7	107,811,201 (GRCm39)	missense	probably damaging	0.99
R5004:Or5p63	UTSW	7	107,811,323 (GRCm39)	nonsense	probably null
R5684:Or5p63	UTSW	7	107,811,279 (GRCm39)	nonsense	probably null
R6782:Or5p63	UTSW	7	107,811,670 (GRCm39)	missense	probably benign	0.03
R6889:Or5p63	UTSW	7	107,811,125 (GRCm39)	missense	probably benign	0.00
R7010:Or5p63	UTSW	7	107,811,349 (GRCm39)	missense	probably damaging	0.98
R7076:Or5p63	UTSW	7	107,811,205 (GRCm39)	missense	probably damaging	1.00
R8162:Or5p63	UTSW	7	107,810,995 (GRCm39)	missense	probably damaging	1.00
R8190:Or5p63	UTSW	7	107,811,014 (GRCm39)	missense	possibly damaging	0.80
R9108:Or5p63	UTSW	7	107,810,846 (GRCm39)	missense	probably damaging	1.00
R9172:Or5p63	UTSW	7	107,811,169 (GRCm39)	missense	probably benign	0.12
Z1177:Or5p63	UTSW	7	107,811,176 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACATTTTGGTGGAATAAAGCAGTGG -3'
(R):5'- ACGGTAGCCAGACAACAGTG -3'

Sequencing Primer
(F):5'- TAAAGCAGTGGGTTGCAGATTGC -3'
(R):5'- TATTGGGACTAACAGATGACCCAGTC -3'

Posted On

2015-01-23