Mutagenetix > Incidental Mutation

Incidental Mutation 'R8994:Or5p81'

684598

Institutional Source

Beutler Lab

Gene Symbol

Or5p81

Ensembl Gene

ENSMUSG00000096209

Gene Name

olfactory receptor family 5 subfamily P member 81

Synonyms

MOR204-34, GA_x6K02T2PBJ9-10997715-10998659, Olfr510

MMRRC Submission

068825-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R8994 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108265625-108267569 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 108267169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 182 (C182Y)

Ref Sequence

ENSEMBL: ENSMUSP00000149237 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076289] [ENSMUST00000213979] [ENSMUST00000216331] [ENSMUST00000217170]

AlphaFold

Q8VEW6

Predicted Effect

probably damaging
Transcript: ENSMUST00000076289
AA Change: C182Y

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000075637
Gene: ENSMUSG00000096209
AA Change: C182Y

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	3e-50	PFAM
Pfam:7tm_1	44	293	4e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213979
AA Change: C182Y

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216331
AA Change: C182Y

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217170
AA Change: C182Y

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.1%

Validation Efficiency

98% (52/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	A	14: 118,771,556 (GRCm39)		probably null	Het
Adgrv1	GTT	GT	13: 81,553,457 (GRCm39)		probably null	Het
Ank2	A	T	3: 126,723,471 (GRCm39)	M952K	probably benign	Het
Ccser2	A	T	14: 36,662,076 (GRCm39)	N369K	probably benign	Het
Cd300e	A	T	11: 114,946,348 (GRCm39)	Y38N	probably damaging	Het
Crat	G	T	2: 30,297,887 (GRCm39)	F212L	probably damaging	Het
Dnah8	T	A	17: 31,009,807 (GRCm39)	S3733T	probably benign	Het
Fam135a	C	T	1: 24,067,621 (GRCm39)	D1083N	probably damaging	Het
Fam174a	C	A	1: 95,241,689 (GRCm39)	P50T	possibly damaging	Het
Fars2	T	A	13: 36,388,849 (GRCm39)	Y113N	probably damaging	Het
Fpr3	T	C	17: 18,191,341 (GRCm39)	I204T	possibly damaging	Het
Frmd3	T	C	4: 74,088,985 (GRCm39)	V394A	probably benign	Het
Garin5a	G	T	7: 44,146,342 (GRCm39)	R16L	probably benign	Het
Gpbp1	C	A	13: 111,603,384 (GRCm39)		probably null	Het
Hectd4	T	A	5: 121,441,629 (GRCm39)	F1197Y	probably benign	Het
Herc3	A	G	6: 58,851,328 (GRCm39)	T526A	probably benign	Het
Hnrnpul2	T	C	19: 8,802,350 (GRCm39)	C406R	probably damaging	Het
Hsd17b3	T	C	13: 64,210,695 (GRCm39)	Q220R	probably damaging	Het
Igf2r	T	A	17: 12,935,537 (GRCm39)	Y651F	possibly damaging	Het
Kcng1	C	T	2: 168,110,768 (GRCm39)	R132Q	probably benign	Het
Kif1a	G	A	1: 92,983,457 (GRCm39)	S680F	possibly damaging	Het
Kif1b	T	C	4: 149,279,939 (GRCm39)	D27G		Het
Klk12	A	T	7: 43,421,485 (GRCm39)	T180S	probably damaging	Het
Klk1b27	A	G	7: 43,705,136 (GRCm39)	H101R	probably damaging	Het
Lrp6	C	A	6: 134,518,656 (GRCm39)	E136D	probably benign	Het
Mcm9	T	C	10: 53,424,620 (GRCm39)	I657V	probably benign	Het
Med13l	A	C	5: 118,866,226 (GRCm39)	K427Q	possibly damaging	Het
Nol10	A	T	12: 17,402,717 (GRCm39)	D63V	probably damaging	Het
Nudcd2	A	G	11: 40,624,862 (GRCm39)	T24A	probably damaging	Het
Nup155	T	C	15: 8,172,645 (GRCm39)		probably null	Het
Or10al7	T	C	17: 38,366,220 (GRCm39)	Y79C	possibly damaging	Het
Or10p1	A	T	10: 129,444,005 (GRCm39)	L115H	probably damaging	Het
Or51af1	A	T	7: 103,141,800 (GRCm39)	M95K	probably benign	Het
Or8c19-ps1	A	T	9: 38,220,581 (GRCm39)	*163Y	probably null	Het
Piezo1	T	C	8: 123,209,829 (GRCm39)	D2314G	unknown	Het
Pkhd1l1	T	C	15: 44,410,499 (GRCm39)	F2669L	probably damaging	Het
Plpp4	A	G	7: 128,981,157 (GRCm39)	R178G	probably damaging	Het
Ppp1r13l	G	T	7: 19,102,695 (GRCm39)	A37S	possibly damaging	Het
Prl6a1	A	G	13: 27,499,417 (GRCm39)	T62A	probably benign	Het
Ranbp2	C	A	10: 58,315,891 (GRCm39)	Q2204K	possibly damaging	Het
Rbm48	T	A	5: 3,640,795 (GRCm39)	M195L	probably benign	Het
Rigi	C	A	4: 40,205,941 (GRCm39)	E884*	probably null	Het
Shank3	T	A	15: 89,417,416 (GRCm39)	F4L	probably benign	Het
Slain2	T	A	5: 73,114,984 (GRCm39)	V405D	probably damaging	Het
Slitrk5	A	C	14: 111,918,227 (GRCm39)	D617A	probably benign	Het
Sp140	T	A	1: 85,549,603 (GRCm39)		probably null	Het
Stk32a	A	G	18: 43,443,542 (GRCm39)	T240A	probably benign	Het
Timm21	T	C	18: 84,969,489 (GRCm39)		probably benign	Het
Tmem131	T	C	1: 36,854,538 (GRCm39)	S904G	probably benign	Het
Tmem86b	A	G	7: 4,632,706 (GRCm39)	C53R	unknown	Het
Wdr33	T	C	18: 31,960,459 (GRCm39)	L41P	probably benign	Het
Zfp112	A	C	7: 23,825,490 (GRCm39)	H490P	probably benign	Het
Zfp455	T	C	13: 67,355,478 (GRCm39)	Y184H	probably damaging	Het

Other mutations in Or5p81

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00909:Or5p81	APN	7	108,266,907 (GRCm39)	missense	possibly damaging	0.61
IGL00952:Or5p81	APN	7	108,267,445 (GRCm39)	missense	possibly damaging	0.89
IGL01358:Or5p81	APN	7	108,266,869 (GRCm39)	missense	possibly damaging	0.90
IGL01663:Or5p81	APN	7	108,267,098 (GRCm39)	missense	probably benign	0.01
IGL02686:Or5p81	APN	7	108,267,093 (GRCm39)	missense	probably benign	0.00
PIT4466001:Or5p81	UTSW	7	108,266,743 (GRCm39)	missense	possibly damaging	0.52
R0095:Or5p81	UTSW	7	108,267,252 (GRCm39)	missense	probably benign	0.00
R0095:Or5p81	UTSW	7	108,267,252 (GRCm39)	missense	probably benign	0.00
R0792:Or5p81	UTSW	7	108,267,364 (GRCm39)	missense	probably damaging	1.00
R0925:Or5p81	UTSW	7	108,267,400 (GRCm39)	missense	probably benign	0.00
R1829:Or5p81	UTSW	7	108,266,851 (GRCm39)	missense	probably benign	0.24
R2092:Or5p81	UTSW	7	108,266,869 (GRCm39)	frame shift	probably null
R2483:Or5p81	UTSW	7	108,266,869 (GRCm39)	frame shift	probably null
R3619:Or5p81	UTSW	7	108,267,057 (GRCm39)	missense	probably benign	0.00
R4386:Or5p81	UTSW	7	108,267,460 (GRCm39)	missense	probably damaging	0.99
R5298:Or5p81	UTSW	7	108,267,279 (GRCm39)	missense	probably benign	0.00
R5622:Or5p81	UTSW	7	108,267,289 (GRCm39)	missense	probably benign
R6079:Or5p81	UTSW	7	108,267,412 (GRCm39)	missense	probably damaging	0.97
R6138:Or5p81	UTSW	7	108,267,412 (GRCm39)	missense	probably damaging	0.97
R8359:Or5p81	UTSW	7	108,267,518 (GRCm39)	missense	probably benign	0.00
R8848:Or5p81	UTSW	7	108,266,929 (GRCm39)	missense	probably benign	0.03
R9360:Or5p81	UTSW	7	108,266,977 (GRCm39)	missense	probably damaging	1.00
R9439:Or5p81	UTSW	7	108,266,626 (GRCm39)	start codon destroyed	probably null	0.97
R9641:Or5p81	UTSW	7	108,267,516 (GRCm39)	missense	probably damaging	0.98
U15987:Or5p81	UTSW	7	108,267,412 (GRCm39)	missense	probably damaging	0.97
Z1177:Or5p81	UTSW	7	108,267,043 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTTGGCTCAGCTGTTTTC -3'
(R):5'- GTAGAGAAAGCCTTGTGTCGACC -3'

Sequencing Primer
(F):5'- CTGGCTGTCATGGCTTATGATC -3'
(R):5'- CCTCAGTGGAATGCATCTTCAGG -3'

Posted On

2021-10-11