Mutagenetix > Incidental Mutation

Incidental Mutation 'R8879:Olfr816'

676779

Institutional Source

Beutler Lab

Gene Symbol

Olfr816

Ensembl Gene

ENSMUSG00000063715

Gene Name

olfactory receptor 816

Synonyms

GA_x6K02T2PULF-11590830-11589892, MOR113-1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R8879 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129909163-129915597 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129911862 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 139 (C139R)

Ref Sequence

ENSEMBL: ENSMUSP00000149515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071605] [ENSMUST00000213438]

AlphaFold

Q8VFU2

Predicted Effect

probably damaging
Transcript: ENSMUST00000071605
AA Change: C139R

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

SMART Domains

Protein: ENSMUSP00000071534
Gene: ENSMUSG00000063715
AA Change: C139R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	6.9e-50	PFAM
Pfam:7tm_1	39	288	1.2e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213438
AA Change: C139R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (69/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	C	T	15: 58,022,509	V326M	probably damaging	Het
Adap2	T	A	11: 80,156,959	H80Q	probably benign	Het
Ang4	T	C	14: 51,764,486	T2A	probably benign	Het
Arf2	T	C	11: 103,979,759		probably null	Het
B3gnt4	A	G	5: 123,511,148	D192G	probably damaging	Het
BC034090	T	C	1: 155,226,357	I54V	probably benign	Het
Catsper3	A	G	13: 55,804,895	T202A	probably benign	Het
Cenpe	T	A	3: 135,260,101	D2113E	probably damaging	Het
Clasp2	T	C	9: 113,773,705	V191A	probably benign	Het
Col5a1	G	T	2: 28,014,158	A1356S	unknown	Het
Cuzd1	A	G	7: 131,308,848	S573P	probably damaging	Het
Cyp1a2	C	A	9: 57,681,885	M215I	possibly damaging	Het
Dcaf17	T	A	2: 71,063,402	I122K	possibly damaging	Het
Dhcr24	A	G	4: 106,573,809	I232V	probably benign	Het
Dnah10	A	G	5: 124,818,117	E3570G	probably damaging	Het
Dnaja4	A	T	9: 54,714,704		probably benign	Het
Ehd1	A	G	19: 6,298,324	D444G	probably damaging	Het
Ehmt1	T	A	2: 24,836,476	M766L	possibly damaging	Het
Eno4	A	G	19: 58,970,722	I613M	probably benign	Het
Exoc3l	A	T	8: 105,290,549	M602K		Het
Fam107a	C	T	14: 8,301,352		probably null	Het
Frem3	A	T	8: 80,613,148	D690V	probably damaging	Het
Gm11639	T	C	11: 104,690,955	I41T	probably benign	Het
Gm19410	A	T	8: 35,771,868	D97V	probably damaging	Het
Grik5	T	A	7: 25,023,064	D540V	possibly damaging	Het
Hint1	T	A	11: 54,869,943	D69E	probably benign	Het
Krt13	T	C	11: 100,119,385	T257A	probably benign	Het
Lpin2	T	C	17: 71,242,754	L676P	probably damaging	Het
Lrguk	A	G	6: 34,029,683	E76G	probably benign	Het
Lrrc8a	A	G	2: 30,256,298	M375V	probably benign	Het
Lrrtm3	T	C	10: 64,089,238	Q50R	possibly damaging	Het
Mmrn1	T	A	6: 60,976,529	L598Q	probably damaging	Het
Mrs2	A	G	13: 25,001,784	I135T	probably damaging	Het
Neb	T	C	2: 52,235,580	D475G		Het
Notch2	A	G	3: 98,135,599	S1427G	possibly damaging	Het
Olfr118	C	A	17: 37,672,411	Y129*	probably null	Het
Olfr682-ps1	A	G	7: 105,126,686	V195A	probably benign	Het
Olfr694	A	T	7: 106,689,089	I214N	probably damaging	Het
Olfr952	A	C	9: 39,426,219	V284G	possibly damaging	Het
Opcml	T	C	9: 28,902,151	F246S	probably damaging	Het
Pdzd2	C	A	15: 12,402,319	V729F	probably damaging	Het
Pias2	C	T	18: 77,146,768	Q565*	probably null	Het
Pnp	T	A	14: 50,950,720		probably null	Het
Ptpn18	T	C	1: 34,463,130	S76P	probably benign	Het
Qtrt2	A	T	16: 43,863,197	L304Q	probably damaging	Het
Rad51ap2	A	T	12: 11,457,400	E441V	possibly damaging	Het
Ranbp2	T	A	10: 58,477,889	V1477E	probably benign	Het
Repin1	C	T	6: 48,597,433	T432I	possibly damaging	Het
Rest	G	A	5: 77,282,511	G926R	probably benign	Het
Rnft1	T	A	11: 86,486,690	F143L	possibly damaging	Het
Sema3e	A	T	5: 14,232,094	I415L	probably benign	Het
Slc10a1	T	A	12: 80,967,595	N117I	probably damaging	Het
Slc25a23	G	A	17: 57,059,709		probably benign	Het
Slc2a2	T	C	3: 28,713,802	S160P	possibly damaging	Het
Srrd	A	G	5: 112,338,456	V178A	possibly damaging	Het
Tmigd3	G	T	3: 105,921,961	G198C	probably benign	Het
Trbv29	G	A	6: 41,271,405	M1I	probably null	Het
Tril	A	G	6: 53,819,584	S218P	probably damaging	Het
Trip11	T	C	12: 101,862,598	K1749R	probably benign	Het
Ttc25	G	T	11: 100,566,926	E452*	probably null	Het
Ttn	A	G	2: 76,830,651	V12011A		Het
Ubr4	T	G	4: 139,410,518	F1093V	probably benign	Het
Urb2	C	A	8: 124,028,403	A283E	probably benign	Het
Usp43	T	A	11: 67,898,881		probably benign	Het
Vmn1r28	A	T	6: 58,265,684	I171F	probably benign	Het
Vps33a	G	A	5: 123,533,899	R469W	probably damaging	Het
Zfp202	G	A	9: 40,211,757	R605Q	probably damaging	Het
Zpbp2	A	T	11: 98,554,620	H158L	probably benign	Het

Other mutations in Olfr816

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01448:Olfr816	APN	10	129912245	missense	possibly damaging	0.89
IGL01650:Olfr816	APN	10	129911681	missense	probably benign	0.00
IGL01766:Olfr816	APN	10	129911780	missense	probably damaging	1.00
IGL02738:Olfr816	APN	10	129911331	utr 3 prime	probably benign
IGL02824:Olfr816	APN	10	129911696	missense	probably damaging	1.00
R0401:Olfr816	UTSW	10	129911916	missense	probably benign	0.18
R0688:Olfr816	UTSW	10	129911883	missense	probably damaging	0.99
R1589:Olfr816	UTSW	10	129911681	missense	probably benign	0.00
R1744:Olfr816	UTSW	10	129911393	missense	probably damaging	1.00
R2049:Olfr816	UTSW	10	129912167	missense	probably benign	0.30
R3763:Olfr816	UTSW	10	129911445	missense	probably damaging	1.00
R3952:Olfr816	UTSW	10	129911636	missense	probably benign	0.00
R3971:Olfr816	UTSW	10	129911873	missense	probably benign	0.01
R4557:Olfr816	UTSW	10	129911529	missense	probably damaging	1.00
R5538:Olfr816	UTSW	10	129912002	missense	probably benign	0.13
R6127:Olfr816	UTSW	10	129911415	missense	probably damaging	1.00
R6227:Olfr816	UTSW	10	129911667	missense	probably damaging	1.00
R6394:Olfr816	UTSW	10	129911920	missense	probably damaging	1.00
R6707:Olfr816	UTSW	10	129911739	missense	probably benign	0.02
R7257:Olfr816	UTSW	10	129912287	start gained	probably benign
R7258:Olfr816	UTSW	10	129912287	start gained	probably benign
R7260:Olfr816	UTSW	10	129912287	start gained	probably benign
R7409:Olfr816	UTSW	10	129912251	missense	possibly damaging	0.74
R7539:Olfr816	UTSW	10	129912063	missense	probably damaging	1.00
R7782:Olfr816	UTSW	10	129911523	missense	probably damaging	1.00
R7984:Olfr816	UTSW	10	129912072	missense	probably benign	0.00
R9533:Olfr816	UTSW	10	129911535	missense	probably benign	0.20
R9717:Olfr816	UTSW	10	129912179	missense	probably damaging	1.00
X0019:Olfr816	UTSW	10	129912095	missense	probably damaging	1.00
Z1191:Olfr816	UTSW	10	129911957	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TGATCACCATTACCAGCGTGAG -3'
(R):5'- GTTACTATGGCAACTGGGGAC -3'

Sequencing Primer
(F):5'- CATTACCAGCGTGAGTAAGAGTGTC -3'
(R):5'- CTGGGGACAAAACCATTTCCTATG -3'

Posted On

2021-07-15