Mutagenetix > Incidental Mutation

Incidental Mutation 'R0401:Olfr816'

38234

Institutional Source

Beutler Lab

Gene Symbol

Olfr816

Ensembl Gene

ENSMUSG00000063715

Gene Name

olfactory receptor 816

Synonyms

GA_x6K02T2PULF-11590830-11589892, MOR113-1

MMRRC Submission

038606-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R0401 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129909163-129915597 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129911916 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 121 (Y121H)

Ref Sequence

ENSEMBL: ENSMUSP00000149515 (fasta)

Gene Model

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

AlphaFold

Q8VFU2

Predicted Effect

probably benign
Transcript: ENSMUST00000071605
AA Change: Y121H

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000071534
Gene: ENSMUSG00000063715
AA Change: Y121H

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 benign
Transcript: ENSMUST00000213438
AA Change: Y121H

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213618

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.6%

Validation Efficiency

98% (90/92)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 138,070,306	H1752L	possibly damaging	Het
8030462N17Rik	C	A	18: 77,673,962	S218I	probably damaging	Het
A530099J19Rik	A	T	13: 19,729,494		noncoding transcript	Het
Abcc5	T	C	16: 20,376,558	K730E	probably benign	Het
Ahnak	A	G	19: 9,015,116	D4588G	probably benign	Het
AI467606	G	A	7: 127,092,436	R61H	probably damaging	Het
Apoa4	T	A	9: 46,243,058	V319E	probably damaging	Het
Atad5	T	A	11: 80,120,699	D1297E	probably benign	Het
BC005624	G	A	2: 30,980,009	T62I	probably benign	Het
Bcl6	T	C	16: 23,972,594	K337E	probably damaging	Het
Cad	T	A	5: 31,073,986		probably benign	Het
Ccdc73	T	C	2: 104,991,289	S528P	probably benign	Het
Ccng2	T	G	5: 93,273,413	C261G	possibly damaging	Het
Cdh11	A	T	8: 102,674,006	I110N	probably damaging	Het
Cgnl1	A	G	9: 71,705,239	V767A	probably damaging	Het
Cit	A	G	5: 115,985,479	T1460A	probably benign	Het
Clec4b2	C	T	6: 123,181,300	Q42*	probably null	Het
Clip1	A	G	5: 123,653,789	V106A	probably damaging	Het
Crb1	T	C	1: 139,198,791		probably benign	Het
Cts6	T	C	13: 61,198,339		probably benign	Het
Cul9	T	C	17: 46,541,704	E244G	probably damaging	Het
Ddx55	A	T	5: 124,567,951	I480F	probably damaging	Het
Dixdc1	A	G	9: 50,693,674	S17P	possibly damaging	Het
Drosha	T	A	15: 12,926,031	Y1235*	probably null	Het
Dsg2	G	T	18: 20,592,508		probably benign	Het
E2f5	T	C	3: 14,579,025		probably null	Het
Epc2	A	G	2: 49,528,974	T265A	probably damaging	Het
Etaa1	T	G	11: 17,947,514	D201A	probably damaging	Het
Fancd2	T	C	6: 113,548,343	I260T	possibly damaging	Het
Fhdc1	G	A	3: 84,444,624	A1098V	probably benign	Het
Gm17689	G	T	9: 36,582,628	A3E	unknown	Het
Gm7030	C	T	17: 36,128,705	V128M	probably damaging	Het
Gpd2	G	A	2: 57,340,093	V286I	possibly damaging	Het
Herc2	A	C	7: 56,157,732	E2523A	probably damaging	Het
Jmjd1c	G	A	10: 67,220,382	R527H	probably damaging	Het
Kif12	G	A	4: 63,169,525		probably benign	Het
Lrp2	A	T	2: 69,479,148	N2802K	probably damaging	Het
Mab21l2	C	G	3: 86,546,989	G235R	probably benign	Het
Mapk8	T	C	14: 33,382,208	E417G	probably benign	Het
Mapk8ip3	G	A	17: 24,909,171		probably benign	Het
Mettl1	A	G	10: 127,045,077	T203A	probably benign	Het
Mettl9	T	C	7: 121,076,313	V312A	probably damaging	Het
Mex3d	A	G	10: 80,386,894	V176A	probably benign	Het
Mmp3	T	C	9: 7,449,790	S225P	probably damaging	Het
Mrvi1	G	A	7: 110,876,897	P757S	probably benign	Het
Neb	G	A	2: 52,188,677		probably benign	Het
Ninj2	C	T	6: 120,198,051	A51V	possibly damaging	Het
Nle1	A	G	11: 82,905,379		probably benign	Het
Nol9	T	C	4: 152,052,605	Y532H	probably benign	Het
Nr2c1	T	A	10: 94,171,158	V286E	probably benign	Het
Olfr1183	T	G	2: 88,461,925	L195R	probably damaging	Het
Olfr1272	A	T	2: 90,282,404	M57K	probably damaging	Het
Olfr308	T	C	7: 86,321,292	Y220C	probably benign	Het
Olfr481	T	A	7: 108,080,872	I26N	possibly damaging	Het
Olfr670	T	A	7: 104,959,943	H263L	probably damaging	Het
Olfr827	A	G	10: 130,210,620	L170P	probably damaging	Het
Ovch2	A	T	7: 107,801,136	V15D	probably damaging	Het
Pclo	T	G	5: 14,681,734	S3417A	unknown	Het
Pet2	C	A	X: 89,405,209	R438L	probably benign	Het
Pex1	T	A	5: 3,633,759	M1085K	probably damaging	Het
Plscr2	T	C	9: 92,282,135	S6P	probably benign	Het
Pogz	C	T	3: 94,877,025	P722S	possibly damaging	Het
Pom121l2	A	T	13: 21,982,225	D222V	probably benign	Het
Prpf40a	T	C	2: 53,159,313	Y179C	probably damaging	Het
R3hdm2	A	G	10: 127,458,173	I179V	possibly damaging	Het
Ranbp9	A	C	13: 43,422,658	V355G	probably damaging	Het
Rims2	T	C	15: 39,509,632		probably benign	Het
Ryr2	A	T	13: 11,705,684	S2693T	probably benign	Het
Sbno1	G	A	5: 124,410,285	T111I	probably damaging	Het
Sdk1	A	C	5: 142,046,161	N997T	possibly damaging	Het
Setx	G	T	2: 29,166,289	E39*	probably null	Het
Skint7	T	A	4: 111,980,362	N112K	probably damaging	Het
Slc35e1	T	C	8: 72,492,571		probably benign	Het
Slc4a10	A	T	2: 62,190,848	D80V	probably benign	Het
Susd2	C	A	10: 75,638,603		probably benign	Het
Tcam1	G	A	11: 106,284,078	E120K	probably benign	Het
Tcf3	G	T	10: 80,421,158	S77R	probably damaging	Het
Tdpoz3	T	C	3: 93,826,365	Y116H	probably benign	Het
Tex26	C	A	5: 149,460,858	D164E	probably benign	Het
Thoc5	G	A	11: 4,902,213		probably benign	Het
Tiparp	A	G	3: 65,531,436	R58G	probably benign	Het
Trim66	A	T	7: 109,475,264	C597S	probably damaging	Het
Ugt2a3	T	A	5: 87,336,490	Q225L	probably benign	Het
Vmn1r25	T	A	6: 57,978,711	I198L	probably benign	Het
Vmn2r106	A	T	17: 20,279,019	V210D	possibly damaging	Het
Vmn2r124	T	C	17: 18,064,145	F483L	probably damaging	Het
Vmn2r78	A	G	7: 86,921,311	K346E	probably benign	Het
Zfhx4	T	A	3: 5,401,161	S2126R	possibly damaging	Het
Zfp608	C	T	18: 54,898,994	G625R	probably benign	Het
Zkscan5	A	G	5: 145,212,575	D234G	probably damaging	Het
Zscan10	T	A	17: 23,605,915	V115E	probably damaging	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
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
R8879:Olfr816	UTSW	10	129911862	missense	probably damaging	1.00
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'- GCTGTGTGTCTGTGCAAGAAATCTG -3'
(R):5'- AGCGTCACTGGAAATCTGACCATC -3'

Sequencing Primer
(F):5'- AATCTGAAGAAGTGGAGTTGTGTC -3'
(R):5'- CTGGTGGATACTCACCTGAAGAC -3'

Posted On

2013-05-23