Mutagenetix > Incidental Mutation

Incidental Mutation 'R6782:Or5p63'

531466

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

044896-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R6782 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107810790-107811734 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107811670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 22 (D22G)

Ref Sequence

ENSEMBL: ENSMUSP00000149407 (fasta)

Gene Model

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

AlphaFold

Q7TRU9

Predicted Effect

probably benign
Transcript: ENSMUST00000081996
AA Change: D22G

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000080657
Gene: ENSMUSG00000095929
AA Change: D22G

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

probably benign
Transcript: ENSMUST00000216489
AA Change: D22G

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.7%

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	C	T	7: 119,847,308 (GRCm39)	A724V	probably damaging	Het
Abcc3	A	T	11: 94,249,776 (GRCm39)	F1055L	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Ankrd17	T	C	5: 90,402,597 (GRCm39)	K1488R	possibly damaging	Het
Ano1	G	A	7: 144,175,424 (GRCm39)	T498I	probably damaging	Het
Arhgap42	T	A	9: 9,115,721 (GRCm39)	K118N	probably damaging	Het
Arl5b	A	G	2: 15,077,993 (GRCm39)	E106G	probably damaging	Het
Atp5mc3	C	T	2: 73,739,672 (GRCm39)	R56Q	probably benign	Het
Bbx	T	C	16: 50,020,928 (GRCm39)	R749G	probably benign	Het
Cacna1g	A	G	11: 94,350,376 (GRCm39)	S490P	probably damaging	Het
Ccdc63	A	T	5: 122,249,077 (GRCm39)	Y417*	probably null	Het
Cep162	A	T	9: 87,093,737 (GRCm39)	N880K	probably benign	Het
Chd2	G	A	7: 73,125,127 (GRCm39)	Q77*	probably null	Het
Cntrl	T	G	2: 35,060,658 (GRCm39)	M1397R	possibly damaging	Het
Dcaf7	A	G	11: 105,945,581 (GRCm39)	Y310C	probably damaging	Het
Dnah5	T	A	15: 28,449,302 (GRCm39)	S4235T	possibly damaging	Het
Dot1l	C	T	10: 80,625,224 (GRCm39)	P1157L	probably damaging	Het
Esco2	T	C	14: 66,057,465 (GRCm39)	T577A	probably benign	Het
Foxp1	T	C	6: 98,907,106 (GRCm39)	D624G	probably damaging	Het
Gfi1	A	T	5: 107,873,819 (GRCm39)		probably null	Het
Gm10985	TTCTCTCTCTCTCTCTCT	TTCTCTCTCTCTCTCT	3: 53,752,626 (GRCm39)		probably null	Het
Gm5113	G	A	7: 29,878,178 (GRCm39)	V89I	probably benign	Het
Gtf3c2	A	C	5: 31,327,180 (GRCm39)	L382R	probably benign	Het
H3c2	T	C	13: 23,936,393 (GRCm39)	S11P	probably benign	Het
Hhip	T	C	8: 80,778,233 (GRCm39)	N99S	probably damaging	Het
Htr5b	T	C	1: 121,438,227 (GRCm39)	I335V	probably benign	Het
Ifi206	A	G	1: 173,308,923 (GRCm39)	S358P	unknown	Het
Loxhd1	T	A	18: 77,518,873 (GRCm39)	V1893D	probably damaging	Het
Mical2	A	G	7: 111,945,968 (GRCm39)	R11G	probably damaging	Het
Mrc1	T	C	2: 14,266,148 (GRCm39)		probably null	Het
Npr1	T	C	3: 90,363,560 (GRCm39)	N821S	probably benign	Het
Or4g16	A	G	2: 111,137,090 (GRCm39)	D180G	probably damaging	Het
Or52a24	A	G	7: 103,381,549 (GRCm39)	T139A	possibly damaging	Het
Or5p70	T	G	7: 107,994,744 (GRCm39)	M139R	probably damaging	Het
Pi4ka	T	A	16: 17,143,852 (GRCm39)	D739V	probably damaging	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Ptprd	T	C	4: 76,243,377 (GRCm39)		probably null	Het
Ralgapb	G	A	2: 158,278,486 (GRCm39)	G5R	probably damaging	Het
Ric8b	T	C	10: 84,783,391 (GRCm39)	V83A	probably damaging	Het
Sdc2	C	A	15: 33,028,281 (GRCm39)	T133K	probably damaging	Het
Slc12a7	T	A	13: 73,947,088 (GRCm39)	V592D	probably damaging	Het
Sorcs1	G	T	19: 50,164,560 (GRCm39)	Y990*	probably null	Het
Spata13	G	T	14: 60,928,912 (GRCm39)	G157W	probably damaging	Het
Tada1	A	G	1: 166,217,541 (GRCm39)	N226S	probably benign	Het
Tenm3	A	G	8: 49,099,291 (GRCm39)		probably null	Het
Tll1	A	G	8: 64,524,315 (GRCm39)	V457A	probably benign	Het
Tmem232	T	C	17: 65,807,119 (GRCm39)	K25E	possibly damaging	Het
Tnrc18	T	C	5: 142,773,063 (GRCm39)	S406G	unknown	Het
Ush2a	A	G	1: 188,089,031 (GRCm39)	M329V	probably benign	Het
Vmn2r107	T	C	17: 20,577,141 (GRCm39)	S380P	probably damaging	Het
Vmn2r73	A	G	7: 85,519,563 (GRCm39)	M465T	probably benign	Het
Wwc2	A	G	8: 48,353,826 (GRCm39)	Y103H	possibly damaging	Het
Zfp217	T	C	2: 169,958,178 (GRCm39)	D463G	probably damaging	Het
Zfp345	T	C	2: 150,315,274 (GRCm39)	S88G	probably damaging	Het
Zfp975	A	C	7: 42,311,454 (GRCm39)	N386K	probably benign	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
R3410:Or5p63	UTSW	7	107,811,490 (GRCm39)	missense	possibly damaging	0.95
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
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'- ACAAGCATATTGGGTGTGACAG -3'
(R):5'- TTATGTGTCTGAAGAGAGTGATACAGG -3'

Sequencing Primer
(F):5'- TGACAGAAGATGAAAGGCCCATATC -3'
(R):5'- CACCTTGTGAGTTCCAAGAATC -3'

Posted On

2018-08-29