Mutagenetix > Incidental Mutation

Incidental Mutation 'R8162:Or5p63'

633574

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

067588-MU

Accession Numbers

Essential gene?

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

Stock #

R8162 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107810790-107811734 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107810995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 247 (H247R)

Ref Sequence

ENSEMBL: ENSMUSP00000080657 (fasta)

Gene Model

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

AlphaFold

Q7TRU9

Predicted Effect

probably damaging
Transcript: ENSMUST00000081996
AA Change: H247R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080657
Gene: ENSMUSG00000095929
AA Change: H247R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

98% (47/48)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol7b	T	A	15: 77,307,430 (GRCm39)	Q355L	probably benign	Het
Asb14	A	T	14: 26,633,945 (GRCm39)	Q383H	probably benign	Het
Ash1l	T	G	3: 88,977,553 (GRCm39)	M2661R	probably damaging	Het
Cacna1e	G	T	1: 154,577,313 (GRCm39)		probably null	Het
Ccdc40	G	T	11: 119,150,870 (GRCm39)		probably null	Het
Cd27	T	A	6: 125,210,188 (GRCm39)		probably null	Het
Ces3b	T	C	8: 105,817,385 (GRCm39)	L371S	possibly damaging	Het
Clec4a2	T	A	6: 123,117,711 (GRCm39)	Y210N	probably damaging	Het
Cpeb2	A	T	5: 43,394,681 (GRCm39)	H553L		Het
Cpne8	T	C	15: 90,503,881 (GRCm39)	I95V	probably benign	Het
D630039A03Rik	T	C	4: 57,910,525 (GRCm39)	T96A	probably benign	Het
Dand5	C	A	8: 85,543,147 (GRCm39)	G110C	probably damaging	Het
Erich3	C	T	3: 154,470,210 (GRCm39)	T1554M	unknown	Het
Evi5l	T	C	8: 4,241,300 (GRCm39)	S278P	probably damaging	Het
Farp2	C	A	1: 93,548,325 (GRCm39)	H1003Q	probably damaging	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gm13741	A	C	2: 87,486,446 (GRCm39)	M273R	possibly damaging	Het
Gm28363	T	A	1: 117,626,641 (GRCm39)	D26E	unknown	Het
Gm8674	A	T	13: 50,054,407 (GRCm39)	D700E	noncoding transcript	Het
Gtf3c4	G	A	2: 28,724,593 (GRCm39)	Q380*	probably null	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Il1a	A	T	2: 129,148,477 (GRCm39)	S78T	possibly damaging	Het
Kdm2b	A	T	5: 123,072,856 (GRCm39)	Y341N	probably damaging	Het
Mcc	T	C	18: 44,582,508 (GRCm39)		probably null	Het
Met	A	G	6: 17,547,061 (GRCm39)	D898G	probably damaging	Het
Mogs	T	C	6: 83,092,863 (GRCm39)	V101A	probably damaging	Het
Mrgpra4	A	T	7: 47,631,221 (GRCm39)	Y127N	probably damaging	Het
Ms4a18	A	G	19: 10,991,071 (GRCm39)	S8P	probably benign	Het
Muc4	A	T	16: 32,569,197 (GRCm39)	T148S	unknown	Het
Nutm1	G	A	2: 112,078,817 (GRCm39)	L1033F	probably benign	Het
Ocstamp	G	T	2: 165,239,787 (GRCm39)	A133D	probably damaging	Het
Or1ab2	T	G	8: 72,864,253 (GRCm39)	V281G	noncoding transcript	Het
Or8g17	T	A	9: 38,930,249 (GRCm39)	D196V	probably benign	Het
Or9s18	G	A	13: 65,300,734 (GRCm39)	R232Q	probably damaging	Het
Phf12	C	A	11: 77,915,651 (GRCm39)	P46Q	probably damaging	Het
Prf1	A	G	10: 61,138,749 (GRCm39)	T236A	probably damaging	Het
Ptcd3	A	G	6: 71,884,798 (GRCm39)	V47A	probably benign	Het
Rapgef1	A	T	2: 29,626,011 (GRCm39)	N1071Y	probably damaging	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rnf26rt	C	A	6: 76,473,558 (GRCm39)	A353S	probably benign	Het
Tango6	C	T	8: 107,409,882 (GRCm39)	P33L	possibly damaging	Het
Tasor2	G	T	13: 3,649,691 (GRCm39)	T36N	probably damaging	Het
Tbc1d2b	C	T	9: 90,089,937 (GRCm39)	R864H	probably damaging	Het
Tent2	A	G	13: 93,304,432 (GRCm39)		probably null	Het
Trav10n	A	T	14: 53,359,929 (GRCm39)	I69L	probably benign	Het
Tsks	A	G	7: 44,603,296 (GRCm39)	Q366R	probably damaging	Het
Vcan	G	T	13: 89,853,106 (GRCm39)	S618*	probably null	Het
Vwf	T	A	6: 125,622,799 (GRCm39)		probably null	Het
Zfp827	T	A	8: 79,787,206 (GRCm39)	L124*	probably null	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
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
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'- AGTTTTACCAACAACTGACTGCTC -3'
(R):5'- AACTCTCCTGTTCTGATGTGAG -3'

Sequencing Primer
(F):5'- AAAACTGTCTTTTCAGAGCATCC -3'
(R):5'- CTCCTGTTCTGATGTGAGTATCTCAG -3'

Posted On

2020-07-13