Mutagenetix > Incidental Mutation

Incidental Mutation 'R6996:Olfr791'

544224

Institutional Source

Beutler Lab

Gene Symbol

Olfr791

Ensembl Gene

ENSMUSG00000047626

Gene Name

olfactory receptor 791

Synonyms

GA_x6K02T2PULF-11205096-11206034, MOR114-1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R6996 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129521792-129528353 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129526863 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 212 (V212E)

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: V212E

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

SMART Domains

Protein: ENSMUSP00000052722
Gene: ENSMUSG00000047626
AA Change: V212E

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: V212E

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

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	G	A	8: 24,806,501	S310L	probably damaging	Het
Adamts16	C	T	13: 70,798,038		probably null	Het
Arrb1	C	A	7: 99,591,362	D194E	probably benign	Het
Atp1a3	T	C	7: 24,997,626	D217G	probably damaging	Het
Bcar3	A	G	3: 122,508,384	I123V	possibly damaging	Het
Bdp1	G	A	13: 100,043,813	L1833F	probably damaging	Het
Cdc14a	T	C	3: 116,328,706	Y155C	probably damaging	Het
Cdo1	C	A	18: 46,720,313	R126M	possibly damaging	Het
Cfap99	G	T	5: 34,327,260	R627L	probably damaging	Het
Efr3a	T	A	15: 65,848,181	L369*	probably null	Het
Erich6	A	C	3: 58,636,095	F185V	probably damaging	Het
Fam186a	T	C	15: 99,955,493	D122G	unknown	Het
Fank1	A	G	7: 133,876,898	I230M	possibly damaging	Het
Flg2	A	T	3: 93,202,670	E668D	unknown	Het
Flg2	A	C	3: 93,202,949	R761S	unknown	Het
Gabrr1	T	C	4: 33,158,157	L260P	probably damaging	Het
Gfm2	G	A	13: 97,149,360	R119K	probably damaging	Het
Gm14226	A	G	2: 155,024,437	T105A	probably benign	Het
Gm14496	A	G	2: 181,996,204	N357S	probably damaging	Het
Gm5916	G	A	9: 36,128,639	L18F	probably benign	Het
Gm884	A	T	11: 103,618,757	L795*	probably null	Het
Golm1	A	T	13: 59,642,244	N247K	probably benign	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
Greb1	C	T	12: 16,723,354	A240T	probably benign	Het
Gtf3c6	T	C	10: 40,249,778	M148V	probably benign	Het
Guca1a	T	C	17: 47,395,177	S126G	probably benign	Het
Hacl1	A	T	14: 31,615,423	I393N	possibly damaging	Het
Hddc3	A	G	7: 80,343,750	D68G	possibly damaging	Het
Hsfy2	T	C	1: 56,636,410	T323A	possibly damaging	Het
Kcng2	T	C	18: 80,323,143		probably benign	Het
Kdm2a	G	T	19: 4,345,641	P321T	probably benign	Het
Krt31	A	G	11: 100,047,732	V345A	probably benign	Het
Mettl1	T	C	10: 127,045,018	S193P	probably benign	Het
Mme	G	A	3: 63,346,102	D456N	possibly damaging	Het
Mmrn1	A	G	6: 60,977,383	T883A	probably benign	Het
Mphosph10	C	G	7: 64,388,921	E293Q	probably benign	Het
Muc16	C	A	9: 18,645,897	K3033N	unknown	Het
Myo16	C	T	8: 10,569,496	T1349M	probably damaging	Het
Myo5c	T	C	9: 75,250,464	I233T	probably benign	Het
Olfr1356	C	A	10: 78,847,517	V133L	probably benign	Het
Olfr1465	A	T	19: 13,313,672	S204R	probably benign	Het
Olfr190	A	G	16: 59,074,192	M296T	probably benign	Het
Olfr475-ps1	A	G	2: 88,623,845	T181A	unknown	Het
Olfr622	T	G	7: 103,639,858	N94T	probably benign	Het
Olfr655	A	T	7: 104,596,811	F123L	probably benign	Het
Oxct2b	A	G	4: 123,117,687	I467V	probably benign	Het
Parp1	A	T	1: 180,587,371	N425Y	possibly damaging	Het
Pcdhgc3	T	A	18: 37,806,603	V19D	possibly damaging	Het
Pfkl	T	A	10: 77,997,589	I260F	probably damaging	Het
Pkd1l1	C	T	11: 8,849,046	G1789R	probably damaging	Het
Pla1a	G	A	16: 38,397,468	A386V	probably benign	Het
Pml	A	G	9: 58,234,886	L221P	probably damaging	Het
Rcn2	C	T	9: 56,057,561	Q268*	probably null	Het
Reps1	T	A	10: 18,093,855	D235E	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,911		probably benign	Het
Sap30bp	A	G	11: 115,933,488		probably benign	Het
Scn1a	A	T	2: 66,287,731	S1433T	probably damaging	Het
Sde2	T	C	1: 180,851,189	V6A	probably benign	Het
Sdk1	C	A	5: 142,212,014	R2141S	probably benign	Het
Setd2	T	C	9: 110,550,572	S1152P	probably damaging	Het
Slc26a2	C	T	18: 61,201,854	V176I	probably damaging	Het
Snx7	A	G	3: 117,846,632	I76T	possibly damaging	Het
Specc1l	C	A	10: 75,246,279	A520D	probably benign	Het
Spop	A	G	11: 95,471,310	T56A	possibly damaging	Het
Syne2	T	A	12: 76,028,012	D4576E	probably damaging	Het
Tas2r134	A	C	2: 51,627,589	M27L	probably benign	Het
Tecta	A	C	9: 42,366,786	I1142S	probably benign	Het
Timm44	T	C	8: 4,266,611	D311G	possibly damaging	Het
Tmem123	C	G	9: 7,791,070	T124R	possibly damaging	Het
Tmem184b	A	T	15: 79,362,759	L370Q	probably benign	Het
Trim25	T	A	11: 88,999,503	N5K	probably benign	Het
Vmn2r93	A	G	17: 18,304,641	Y187C	probably damaging	Het
Vpreb1	A	G	16: 16,868,814	Y71H	probably damaging	Het
Vpreb2	T	C	16: 17,980,577	S5P	probably benign	Het
Xpo7	A	T	14: 70,669,448	C939S	probably benign	Het
Zfp78	C	A	7: 6,378,765	S271R	probably benign	Het
Zic5	A	T	14: 122,464,668	M217K	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
R1918: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
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'- GGCCATCTGTAAACCCCTTC -3'
(R):5'- ATGGCCACTTCATCCTTAGC -3'

Sequencing Primer
(F):5'- GTGTCTGGCCTAATGATTATCAC -3'
(R):5'- ACTTCATCCTTAGCCGATGG -3'

Posted On

2019-05-13