Mutagenetix > Incidental Mutation

Incidental Mutation 'R1918:Olfr791'

212745

Institutional Source

Beutler Lab

Gene Symbol

Olfr791

Ensembl Gene

ENSMUSG00000047626

Gene Name

olfactory receptor 791

Synonyms

GA_x6K02T2PULF-11205096-11206034, MOR114-1

MMRRC Submission

039936-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R1918 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129521792-129528353 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129527049 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 274 (V274D)

Ref Sequence

ENSEMBL: ENSMUSP00000150497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057477] [ENSMUST00000217228]

AlphaFold

Q8VGJ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000057477
AA Change: V274D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000052722
Gene: ENSMUSG00000047626
AA Change: V274D

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	307	7.6e-45	PFAM
Pfam:7TM_GPCR_Srsx	33	303	4.3e-6	PFAM
Pfam:7tm_1	39	288	4.7e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000217228
AA Change: V274D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Meta Mutation Damage Score

0.6635

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.5%

Validation Efficiency

97% (113/116)

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: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110035E14Rik	T	C	1: 9,601,627	F15S	probably damaging	Het
4930432E11Rik	T	G	7: 29,574,089		noncoding transcript	Het
4930435E12Rik	A	G	16: 38,828,088	Y220H	possibly damaging	Het
4931440F15Rik	A	G	11: 29,824,039	S473P	probably benign	Het
A2m	T	C	6: 121,644,936	S314P	probably benign	Het
Abcc9	T	A	6: 142,697,682	I47F	probably damaging	Het
Abcd2	C	T	15: 91,191,481	R43H	probably benign	Het
Adgre5	A	G	8: 83,729,109	V190A	probably damaging	Het
Aen	C	T	7: 78,906,029	H242Y	possibly damaging	Het
Arfgef1	C	T	1: 10,199,878	A349T	probably benign	Het
Arhgap10	T	C	8: 77,259,079	I698V	probably benign	Het
Arpp21	C	T	9: 112,119,178		probably benign	Het
Atp10a	T	C	7: 58,827,935	I1294T	possibly damaging	Het
Atp13a2	T	C	4: 140,996,371	Y337H	possibly damaging	Het
BC147527	T	C	13: 120,308,222	L26P	probably damaging	Het
Bsn	C	T	9: 108,107,573	G3094D	unknown	Het
Cadm2	G	A	16: 66,747,384		probably benign	Het
Cadps	T	C	14: 12,546,372	M495V	probably damaging	Het
Cass4	A	G	2: 172,427,339	H447R	possibly damaging	Het
Ccdc124	C	A	8: 70,868,944	R108L	probably benign	Het
Ccdc141	C	T	2: 77,014,703	R1340Q	probably benign	Het
Ccdc148	T	G	2: 58,982,899	R299S	probably damaging	Het
Ccdc36	T	A	9: 108,412,985	H140L	probably benign	Het
Cd300lg	A	G	11: 102,054,110	E382G	probably damaging	Het
Cd36	A	T	5: 17,797,036	C322*	probably null	Het
Celsr2	C	T	3: 108,398,650	G2046D	probably benign	Het
Clasrp	C	T	7: 19,585,263	W492*	probably null	Het
Cmtr1	T	C	17: 29,679,009	V154A	possibly damaging	Het
Ctnnb1	C	T	9: 120,951,034	P128S	possibly damaging	Het
Cyp11a1	A	G	9: 58,026,757	I496V	probably damaging	Het
Disp2	G	A	2: 118,791,927	V1047I	probably benign	Het
Eps8l2	T	C	7: 141,361,724	V636A	probably damaging	Het
Fars2	T	C	13: 36,204,546	L6P	probably damaging	Het
Fnip1	C	T	11: 54,480,684	T177I	probably damaging	Het
Fut8	G	T	12: 77,332,218	R31L	probably benign	Het
G6pd2	T	C	5: 61,810,321	F480L	probably benign	Het
Glipr1l2	T	A	10: 112,092,645	C148*	probably null	Het
Gm10142	G	A	10: 77,715,987	V61M	probably benign	Het
Gm12169	A	G	11: 46,528,531	D58G	possibly damaging	Het
Gm5134	T	A	10: 75,976,346	M145K	possibly damaging	Het
Gm853	A	T	4: 130,211,393	V328D	probably benign	Het
Gnpda1	T	C	18: 38,333,190		probably null	Het
Gpc2	T	C	5: 138,278,379	T162A	probably benign	Het
Gtf2h4	G	A	17: 35,670,198	L246F	possibly damaging	Het
Hal	C	T	10: 93,496,607	P294S	probably damaging	Het
Hectd3	C	T	4: 117,000,343	A573V	possibly damaging	Het
Hephl1	T	A	9: 15,076,818	I665F	probably benign	Het
Herc1	T	C	9: 66,476,126		probably null	Het
Hif1an	A	G	19: 44,571,112		probably null	Het
Il12rb1	T	A	8: 70,813,680	M223K	probably benign	Het
Ilf3	C	T	9: 21,393,714	T201M	probably damaging	Het
Inpp5f	T	C	7: 128,663,969		probably benign	Het
Jcad	T	C	18: 4,674,292	Y685H	probably damaging	Het
Kcnj1	C	A	9: 32,396,738	Q153K	probably benign	Het
Kctd18	A	C	1: 57,959,220	H73Q	probably damaging	Het
Klhl36	T	A	8: 119,876,724	W573R	probably damaging	Het
Lepr	A	G	4: 101,772,836	T583A	probably benign	Het
Ltbp4	G	A	7: 27,337,569		probably benign	Het
Mapt	A	T	11: 104,298,499	E114D	probably benign	Het
Mib1	T	A	18: 10,740,972		probably null	Het
Mthfd1	G	T	12: 76,314,976	A119S	probably damaging	Het
Mylk4	A	T	13: 32,724,853	D90E	probably benign	Het
Nceh1	T	G	3: 27,183,175	L33R	probably damaging	Het
Nfat5	T	C	8: 107,366,236	I91T	probably damaging	Het
Nxn	A	G	11: 76,261,672		probably benign	Het
Oasl1	G	A	5: 114,923,469	A20T	possibly damaging	Het
Olfr1262	T	C	2: 90,002,574	F56S	probably benign	Het
Olfr141	C	T	2: 86,806,827	M57I	probably damaging	Het
Olfr1428	A	G	19: 12,109,507	V13A	probably benign	Het
Olfr1447	A	G	19: 12,900,851	*310Q	probably null	Het
Olfr164	A	T	16: 19,286,302	M147K	probably benign	Het
Pepd	T	C	7: 34,971,676	V215A	probably benign	Het
Pfkl	A	T	10: 78,001,426	N104K	probably damaging	Het
Phf24	T	C	4: 42,938,165		probably benign	Het
Pink1	T	C	4: 138,314,020	N530S	probably benign	Het
Pou3f2	T	C	4: 22,487,119	D338G	probably damaging	Het
Ppp1r13b	A	G	12: 111,834,810	V480A	probably damaging	Het
Ptgfrn	A	T	3: 101,056,307	I663N	probably benign	Het
Rad54b	A	C	4: 11,601,693	N416T	probably damaging	Het
Rasef	A	G	4: 73,744,114	S200P	possibly damaging	Het
Rbm33	T	A	5: 28,387,917	I605N	probably damaging	Het
Rps19bp1	T	C	15: 80,264,079	T31A	probably benign	Het
Ryr2	T	A	13: 11,556,698	T4885S	possibly damaging	Het
Serpinb6b	A	G	13: 32,978,240	I222V	probably benign	Het
Sik3	C	G	9: 46,221,089	H1276Q	probably benign	Het
Skor2	T	C	18: 76,859,356	S258P	unknown	Het
Slc22a29	C	T	19: 8,217,759		probably null	Het
Slc8a3	A	T	12: 81,314,844	F400L	probably damaging	Het
Slc9a8	T	C	2: 167,424,214	I37T	possibly damaging	Het
Smchd1	A	G	17: 71,407,237	I877T	possibly damaging	Het
Spag5	A	G	11: 78,304,176	N103S	probably benign	Het
Sptbn1	A	T	11: 30,142,414	F450L	probably damaging	Het
Strn4	T	A	7: 16,833,921	Y507N	probably damaging	Het
Stxbp5	C	A	10: 9,812,298	V420F	possibly damaging	Het
Syt17	G	T	7: 118,433,985	L267I	possibly damaging	Het
Tdo2	T	A	3: 81,958,940	R339W	probably damaging	Het
Ttn	A	G	2: 76,741,401	S26383P	probably damaging	Het
Ttn	G	T	2: 76,808,524	T13938K	probably damaging	Het
Tulp2	A	G	7: 45,517,941	N188D	possibly damaging	Het
Ube3c	C	T	5: 29,587,317	R37C	probably damaging	Het
Uggt2	G	T	14: 119,008,055		probably benign	Het
Umodl1	G	A	17: 30,984,043	V457M	probably damaging	Het
Usp17la	C	T	7: 104,860,746	T186I	probably benign	Het
Vmn1r226	T	C	17: 20,687,580	S25P	probably damaging	Het
Vmn1r235	T	A	17: 21,262,397	I328K	possibly damaging	Het
Vmn2r50	A	T	7: 10,047,683	S378R	probably benign	Het
Vwa2	C	T	19: 56,908,934	T557I	probably benign	Het
Wdr60	A	C	12: 116,232,601	S509A	probably damaging	Het
Yes1	G	T	5: 32,684,735	Q534H	probably benign	Het
Zbtb25	A	T	12: 76,349,301	Y382*	probably null	Het
Zc3h3	G	A	15: 75,777,118	P722S	probably damaging	Het
Zfp36l2	T	C	17: 84,186,736	T158A	probably damaging	Het
Zfp536	T	C	7: 37,480,199	T994A	probably damaging	Het
Zfp592	C	T	7: 81,037,420	Q824*	probably null	Het
Zfp629	C	A	7: 127,612,000	K212N	probably damaging	Het
Zfp930	C	A	8: 69,228,705	Q350K	probably benign	Het

Other mutations in Olfr791

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01153:Olfr791	APN	10	129526995	missense	probably damaging	0.97
IGL03034:Olfr791	APN	10	129526658	missense	probably benign
IGL03281:Olfr791	APN	10	129526403	missense	probably benign	0.31
R0555:Olfr791	UTSW	10	129526896	missense	possibly damaging	0.90
R1474:Olfr791	UTSW	10	129526955	missense	probably benign	0.03
R1638:Olfr791	UTSW	10	129526619	missense	probably benign	0.00
R1917:Olfr791	UTSW	10	129527049	missense	probably damaging	0.99
R1919:Olfr791	UTSW	10	129527049	missense	probably damaging	0.99
R2303:Olfr791	UTSW	10	129527049	missense	probably benign	0.10
R3113:Olfr791	UTSW	10	129527143	missense	probably benign	0.08
R3929:Olfr791	UTSW	10	129526231	start codon destroyed	probably null	1.00
R4704:Olfr791	UTSW	10	129526302	missense	possibly damaging	0.90
R4831:Olfr791	UTSW	10	129526580	missense	probably damaging	1.00
R5207:Olfr791	UTSW	10	129526904	missense	probably benign	0.08
R5313:Olfr791	UTSW	10	129527081	missense	probably damaging	1.00
R5644:Olfr791	UTSW	10	129527103	missense	probably damaging	1.00
R5661:Olfr791	UTSW	10	129526749	missense	probably benign	0.45
R5894:Olfr791	UTSW	10	129526488	missense	probably damaging	0.98
R6988:Olfr791	UTSW	10	129526673	missense	probably benign	0.02
R6996:Olfr791	UTSW	10	129526863	missense	probably damaging	1.00
R7380:Olfr791	UTSW	10	129526661	missense	probably benign
R7539:Olfr791	UTSW	10	129527105	nonsense	probably null
R7552:Olfr791	UTSW	10	129526560	missense	possibly damaging	0.95
R7635:Olfr791	UTSW	10	129526682	missense	probably benign	0.00
R8084:Olfr791	UTSW	10	129526940	missense	probably damaging	1.00
R8260:Olfr791	UTSW	10	129527088	missense	possibly damaging	0.55
R8755:Olfr791	UTSW	10	129526463	missense	possibly damaging	0.60
X0066:Olfr791	UTSW	10	129526745	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTGTGGCTGTCTTTGCAC -3'
(R):5'- GGTTTCCATATGACATGCCAC -3'

Sequencing Primer
(F):5'- GCACTCATTATTACCCTAATCTGTG -3'
(R):5'- AGTTCCATAAGGATAATATCTGGGTG -3'

Posted On

2014-07-14