Mutagenetix > Incidental Mutation

Incidental Mutation 'R1845:Olfr794'

207667

Institutional Source

Beutler Lab

Gene Symbol

Olfr794

Ensembl Gene

ENSMUSG00000044293

Gene Name

olfactory receptor 794

Synonyms

GA_x6K02T2PULF-11248702-11249664, MOR114-11

MMRRC Submission

039870-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R1845 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129567655-129573110 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129571348 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 231 (Q231L)

Ref Sequence

ENSEMBL: ENSMUSP00000145301 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059957] [ENSMUST00000204820]

AlphaFold

Q8VF26

Predicted Effect

probably damaging
Transcript: ENSMUST00000059957
AA Change: Q231L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000049790
Gene: ENSMUSG00000044293
AA Change: Q231L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	2.8e-49	PFAM
Pfam:7tm_1	39	288	2e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000204820
AA Change: Q231L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145301
Gene: ENSMUSG00000044293
AA Change: Q231L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	2.8e-49	PFAM
Pfam:7tm_1	39	288	2e-22	PFAM

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.7%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	T	A	12: 55,304,332 (GRCm38)	I142N	possibly damaging	Het
1110038F14Rik	CGGG	CGGGGGG	15: 76,949,663 (GRCm38)		probably benign	Het
Abca17	A	T	17: 24,267,716 (GRCm38)	C1446S	probably damaging	Het
Asb16	C	A	11: 102,276,756 (GRCm38)	A316E	possibly damaging	Het
Axdnd1	C	T	1: 156,376,544 (GRCm38)	V384I	possibly damaging	Het
BC024139	A	T	15: 76,125,261 (GRCm38)	L207*	probably null	Het
Bcl3	T	G	7: 19,809,627 (GRCm38)	S305R	probably damaging	Het
Cachd1	T	C	4: 100,777,358 (GRCm38)	V77A	probably benign	Het
Cd101	C	T	3: 101,029,448 (GRCm38)		probably null	Het
Cela1	T	C	15: 100,685,167 (GRCm38)	N64S	probably benign	Het
Cep128	T	C	12: 91,289,598 (GRCm38)	D366G	probably benign	Het
Col12a1	A	G	9: 79,697,541 (GRCm38)	V675A	probably benign	Het
Copg1	A	G	6: 87,893,818 (GRCm38)	Y201C	probably damaging	Het
Cyp24a1	T	C	2: 170,487,917 (GRCm38)	R372G	probably benign	Het
Dcaf1	A	C	9: 106,851,962 (GRCm38)	I567L	probably benign	Het
Dcn	A	G	10: 97,506,674 (GRCm38)	D164G	probably benign	Het
Dnase2a	T	A	8: 84,909,322 (GRCm38)	H113Q	probably benign	Het
Espl1	T	C	15: 102,299,013 (GRCm38)	V304A	probably benign	Het
Fam193a	A	G	5: 34,443,372 (GRCm38)	D315G	possibly damaging	Het
Fkbp8	T	A	8: 70,531,035 (GRCm38)		probably null	Het
Foxp4	T	A	17: 47,877,959 (GRCm38)	T321S	probably null	Het
Fut10	A	G	8: 31,236,300 (GRCm38)	N361S	probably damaging	Het
Gm13762	A	G	2: 88,973,138 (GRCm38)	V251A	probably benign	Het
Gyg	A	T	3: 20,151,122 (GRCm38)	V94D	probably damaging	Het
Has2	T	C	15: 56,668,578 (GRCm38)	K247R	probably damaging	Het
Helz2	G	T	2: 181,232,085 (GRCm38)	D2205E	probably benign	Het
Hps6	T	A	19: 46,004,970 (GRCm38)	S449T	probably benign	Het
Ints10	T	C	8: 68,794,671 (GRCm38)	Y64H	probably damaging	Het
Kalrn	T	C	16: 34,356,961 (GRCm38)	H278R	probably damaging	Het
Klhdc8a	T	C	1: 132,303,810 (GRCm38)	V280A	possibly damaging	Het
Klk1b5	A	G	7: 44,220,125 (GRCm38)	M210V	probably benign	Het
Kmt2c	G	A	5: 25,373,436 (GRCm38)	A614V	probably benign	Het
Lck	T	A	4: 129,558,086 (GRCm38)	I45F	probably benign	Het
Lin7a	A	C	10: 107,412,059 (GRCm38)	E75A	probably damaging	Het
Lrp1	A	T	10: 127,578,673 (GRCm38)	C1070S	probably damaging	Het
Mapk8ip3	G	T	17: 24,914,583 (GRCm38)	N289K	probably benign	Het
Mbtps1	T	C	8: 119,522,493 (GRCm38)	D686G	probably benign	Het
Mknk1	T	A	4: 115,873,231 (GRCm38)	C178*	probably null	Het
Mtmr6	A	G	14: 60,296,735 (GRCm38)	N474S	probably damaging	Het
Mvb12b	A	G	2: 33,840,157 (GRCm38)		probably null	Het
Myh6	T	C	14: 54,944,674 (GRCm38)	K1759R	probably damaging	Het
Nfatc1	T	C	18: 80,635,531 (GRCm38)	K881E	possibly damaging	Het
Nlrp10	A	G	7: 108,927,041 (GRCm38)	F30S	probably damaging	Het
Nop14	G	T	5: 34,650,328 (GRCm38)	A430E	possibly damaging	Het
Ntn4	C	T	10: 93,707,353 (GRCm38)	R314W	probably damaging	Het
Olfr1212	A	G	2: 88,958,867 (GRCm38)	I134V	probably damaging	Het
Olfr347	A	T	2: 36,734,842 (GRCm38)	I174F	probably damaging	Het
Olfr775	A	G	10: 129,250,594 (GRCm38)	E20G	probably benign	Het
Olfr829	A	T	9: 18,857,486 (GRCm38)	Y287F	possibly damaging	Het
Osbpl7	C	A	11: 97,059,128 (GRCm38)	S378R	probably damaging	Het
Otof	A	T	5: 30,371,723 (GRCm38)	Y1775*	probably null	Het
Parp16	T	C	9: 65,215,594 (GRCm38)	S46P	possibly damaging	Het
Pdlim2	C	T	14: 70,164,779 (GRCm38)	R296H	probably damaging	Het
Pi16	A	T	17: 29,319,387 (GRCm38)	Q58L	possibly damaging	Het
Pld3	C	A	7: 27,539,452 (GRCm38)	M190I	probably benign	Het
Plscr4	T	G	9: 92,490,046 (GRCm38)	I290S	probably damaging	Het
Ppip5k2	T	C	1: 97,723,806 (GRCm38)	D928G	possibly damaging	Het
Ppp1r13l	T	A	7: 19,368,611 (GRCm38)	L15Q	probably damaging	Het
Ptpn14	C	A	1: 189,839,502 (GRCm38)	S263R	possibly damaging	Het
Sema7a	G	A	9: 57,954,899 (GRCm38)	V178I	possibly damaging	Het
Sesn2	A	T	4: 132,497,070 (GRCm38)	Y342*	probably null	Het
Shroom3	G	T	5: 92,943,086 (GRCm38)	V1151F	probably damaging	Het
Sltm	A	G	9: 70,543,032 (GRCm38)	N38S	possibly damaging	Het
Smg1	T	C	7: 118,154,622 (GRCm38)		probably benign	Het
Spsb1	A	T	4: 149,906,910 (GRCm38)	V67E	probably damaging	Het
Suox	A	G	10: 128,670,539 (GRCm38)	V540A	possibly damaging	Het
Tbc1d12	T	A	19: 38,911,085 (GRCm38)	I483N	probably damaging	Het
Tbcb	A	T	7: 30,224,499 (GRCm38)	D198E	possibly damaging	Het
Tbce	T	C	13: 14,019,709 (GRCm38)	K122E	probably benign	Het
Tcap	T	A	11: 98,384,379 (GRCm38)	L113H	probably damaging	Het
Thsd7a	A	T	6: 12,321,041 (GRCm38)	I1545N	probably damaging	Het
Tmed10	T	C	12: 85,374,503 (GRCm38)	T55A	possibly damaging	Het
Tmem268	T	A	4: 63,579,943 (GRCm38)	V200D	probably damaging	Het
Tmem45b	A	C	9: 31,431,355 (GRCm38)	I50M	probably damaging	Het
Trp53bp2	T	C	1: 182,458,903 (GRCm38)	W1103R	probably damaging	Het
Ttn	C	T	2: 76,764,033 (GRCm38)	V20524M	probably damaging	Het
Ulk2	A	T	11: 61,812,738 (GRCm38)	N379K	probably benign	Het
Vmn1r59	A	G	7: 5,454,554 (GRCm38)	V69A	probably benign	Het
Vmn2r10	A	T	5: 109,001,995 (GRCm38)	Y394*	probably null	Het
Zfp212	T	C	6: 47,931,541 (GRCm38)	S485P	probably benign	Het
Zfp512b	A	T	2: 181,585,735 (GRCm38)	C776S	probably damaging	Het
Zfp518b	A	G	5: 38,671,741 (GRCm38)	Y974H	probably damaging	Het

Other mutations in Olfr794

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01867:Olfr794	APN	10	129,570,827 (GRCm38)	missense	possibly damaging	0.95
IGL02157:Olfr794	APN	10	129,571,150 (GRCm38)	missense	probably damaging	1.00
IGL02804:Olfr794	APN	10	129,571,437 (GRCm38)	missense	possibly damaging	0.60
IGL02833:Olfr794	APN	10	129,570,750 (GRCm38)	missense	probably benign	0.26
IGL02930:Olfr794	APN	10	129,571,315 (GRCm38)	missense	probably damaging	1.00
IGL03038:Olfr794	APN	10	129,570,921 (GRCm38)	missense	probably benign	0.07
G4846:Olfr794	UTSW	10	129,571,170 (GRCm38)	missense	probably damaging	1.00
R1539:Olfr794	UTSW	10	129,570,771 (GRCm38)	missense	probably damaging	0.99
R1737:Olfr794	UTSW	10	129,570,828 (GRCm38)	missense	probably damaging	1.00
R2198:Olfr794	UTSW	10	129,571,046 (GRCm38)	nonsense	probably null
R3086:Olfr794	UTSW	10	129,571,407 (GRCm38)	missense	probably damaging	1.00
R4960:Olfr794	UTSW	10	129,571,026 (GRCm38)	missense	probably damaging	1.00
R5938:Olfr794	UTSW	10	129,571,527 (GRCm38)	missense	probably damaging	1.00
R6326:Olfr794	UTSW	10	129,570,702 (GRCm38)	missense	possibly damaging	0.74
R6598:Olfr794	UTSW	10	129,571,369 (GRCm38)	missense	probably damaging	1.00
R7034:Olfr794	UTSW	10	129,571,072 (GRCm38)	missense	possibly damaging	0.91
R7066:Olfr794	UTSW	10	129,571,504 (GRCm38)	missense	probably damaging	1.00
R7226:Olfr794	UTSW	10	129,570,715 (GRCm38)	missense	probably benign	0.01
R7324:Olfr794	UTSW	10	129,570,849 (GRCm38)	missense	probably damaging	1.00
R7408:Olfr794	UTSW	10	129,570,624 (GRCm38)	start gained	probably benign
R7779:Olfr794	UTSW	10	129,571,311 (GRCm38)	missense	probably damaging	1.00
R8733:Olfr794	UTSW	10	129,570,710 (GRCm38)	missense	possibly damaging	0.90
R8891:Olfr794	UTSW	10	129,571,177 (GRCm38)	missense	probably damaging	0.99
R8931:Olfr794	UTSW	10	129,570,681 (GRCm38)	missense	probably benign	0.09
R9310:Olfr794	UTSW	10	129,570,818 (GRCm38)	missense	probably benign	0.00
R9681:Olfr794	UTSW	10	129,570,795 (GRCm38)	missense	probably damaging	1.00
Z1176:Olfr794	UTSW	10	129,571,236 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACAGCTGGAATTCTGTGACTC -3'
(R):5'- CCAACATGTTCTTATTGGTGTAAGAGG -3'

Sequencing Primer
(F):5'- CAGCTGGAATTCTGTGACTCTAACAC -3'
(R):5'- TCATTAAAAGCTTGTTTCACTTGC -3'

Posted On

2014-06-23