Mutagenetix > Incidental Mutation

Incidental Mutation 'R7089:Olfr994'

550059

Institutional Source

Beutler Lab

Gene Symbol

Olfr994

Ensembl Gene

ENSMUSG00000075219

Gene Name

olfactory receptor 994

Synonyms

MOR203-4, GA_x6K02T2Q125-46907515-46906571

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R7089 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85429380-85436451 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85430558 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 90 (K90N)

Ref Sequence

ENSEMBL: ENSMUSP00000149417 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099925] [ENSMUST00000214679] [ENSMUST00000217218]

AlphaFold

Q8VF73

Predicted Effect

probably benign
Transcript: ENSMUST00000099925
AA Change: K90N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000097509
Gene: ENSMUSG00000075219
AA Change: K90N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	306	5.1e-48	PFAM
Pfam:7TM_GPCR_Srsx	35	302	3.5e-5	PFAM
Pfam:7tm_1	41	289	8.2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214679
AA Change: K90N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000217218
AA Change: K90N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

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

Validation Efficiency

99% (68/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500009C09Rik	A	T	15: 82,252,573		probably benign	Het
1700010I14Rik	T	C	17: 9,008,095	V494A	probably benign	Het
1700011I03Rik	C	T	18: 57,591,987	T96I	probably benign	Het
1700017B05Rik	A	T	9: 57,258,758	L111Q	probably damaging	Het
Adgrf4	T	G	17: 42,666,533	I640L	possibly damaging	Het
Afdn	T	G	17: 13,890,812		probably null	Het
Ammecr1l	A	T	18: 31,761,824		probably benign	Het
Aox2	A	T	1: 58,336,649	Y879F	probably benign	Het
Arhgap45	G	A	10: 80,026,347		probably null	Het
Arpp21	G	T	9: 112,126,446	H542N	probably benign	Het
Cdt1	G	A	8: 122,571,980	R452Q	probably damaging	Het
Clcn7	C	T	17: 25,153,693	H149Y		Het
Clpp	T	G	17: 56,990,421	W32G	probably benign	Het
Dnmt1	G	T	9: 20,908,489	L1572M	probably damaging	Het
Drd3	G	T	16: 43,807,378	R128S	probably damaging	Het
Elmo2	A	T	2: 165,304,929	F243I	possibly damaging	Het
Endou	G	A	15: 97,720,245	P128L	probably benign	Het
Fat3	A	G	9: 15,996,918	M2596T	probably benign	Het
Fbxl16	A	G	17: 25,816,729	K100R	probably benign	Het
Fbxo10	A	G	4: 45,062,230	S99P	possibly damaging	Het
Fez1	A	T	9: 36,867,703	R225S	probably benign	Het
Gm14326	A	T	2: 177,946,671	H177Q	probably damaging	Het
Gm32742	T	A	9: 51,143,246	M1360L	probably benign	Het
Hspg2	T	C	4: 137,544,366	V2481A	possibly damaging	Het
Ifnl3	A	G	7: 28,523,858	K101E	probably benign	Het
Il15	A	T	8: 82,337,575	S77R	probably damaging	Het
Ints13	T	C	6: 146,574,718	D95G	probably damaging	Het
Kcmf1	G	A	6: 72,842,946	P357S	probably benign	Het
Kcmf1	G	T	6: 72,848,306	T268K	probably benign	Het
Kmt2d	A	T	15: 98,850,272	I3057N	unknown	Het
Lgi2	A	G	5: 52,538,490	F376L	probably damaging	Het
Lrig3	T	G	10: 125,997,124	L289R	probably damaging	Het
Mafk	A	G	5: 139,800,121	S25G	probably benign	Het
Mpz	T	C	1: 171,159,635		probably null	Het
Nalcn	A	C	14: 123,278,349	I1680R	probably benign	Het
Olfr154	C	T	2: 85,664,174	V87M	possibly damaging	Het
Olfr270	C	T	4: 52,971,470	P283L	probably damaging	Het
Olfr486	A	T	7: 108,172,494	N83K	probably benign	Het
Otof	A	C	5: 30,371,568	I1827S	possibly damaging	Het
Oxgr1	A	G	14: 120,022,202	Y198H	probably damaging	Het
P3h2	T	A	16: 25,965,809	N645I	probably damaging	Het
Pbld2	A	G	10: 63,053,912	T158A	probably benign	Het
Pdgfrb	C	T	18: 61,073,243	R608C	probably damaging	Het
Pdia5	T	C	16: 35,407,679	T408A	probably benign	Het
Pik3cg	A	G	12: 32,176,846	V1014A	probably benign	Het
Prpf8	A	G	11: 75,508,548	T2180A	probably damaging	Het
Rabgap1l	A	T	1: 160,724,172	Y245*	probably null	Het
Rerg	T	C	6: 137,067,035	T28A	possibly damaging	Het
Rhcg	A	G	7: 79,599,468	I335T	probably damaging	Het
Rmnd1	C	T	10: 4,403,873	V78I	probably damaging	Het
Ryr2	A	C	13: 11,649,776	V3547G	probably benign	Het
Scnn1a	C	A	6: 125,337,807	Q324K	probably benign	Het
Serpinb6e	G	A	13: 33,832,715	T345I	probably damaging	Het
Smchd1	T	C	17: 71,361,960	T1687A	probably benign	Het
Speer4f2	A	C	5: 17,376,663	H201P		Het
Spef2	G	A	15: 9,725,171	R167C	probably damaging	Het
Srp68	A	G	11: 116,271,907		probably null	Het
Tbc1d14	A	T	5: 36,512,540	F455I	probably benign	Het
Tet3	A	G	6: 83,455,024	V10A	possibly damaging	Het
Tlr3	A	T	8: 45,397,773	S696T	probably benign	Het
Tmem63b	T	C	17: 45,667,783	N300S	probably benign	Het
Tmprss11g	T	C	5: 86,489,291	I328M	probably damaging	Het
Tpm3	C	T	3: 90,072,722		probably benign	Het
Trim28	T	A	7: 13,024,906	L63Q	probably damaging	Het
Unc5b	G	A	10: 60,777,486	R324C	probably damaging	Het
Vmn1r236	T	A	17: 21,286,942	N107K	possibly damaging	Het
Vmn2r88	A	G	14: 51,418,643	T770A		Het
Zcchc2	C	A	1: 106,030,481	P894Q	probably damaging	Het
Zfhx2	A	G	14: 55,065,772	V1585A	probably benign	Het

Other mutations in Olfr994

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01140:Olfr994	APN	2	85430140	missense	probably benign	0.00
IGL01325:Olfr994	APN	2	85430295	missense	possibly damaging	0.60
IGL01634:Olfr994	APN	2	85430439	missense	probably damaging	1.00
IGL01809:Olfr994	APN	2	85430154	missense	probably damaging	1.00
IGL02586:Olfr994	APN	2	85430466	missense	possibly damaging	0.80
IGL02711:Olfr994	APN	2	85430739	missense	probably damaging	0.97
R0010:Olfr994	UTSW	2	85429895	missense	probably benign
R0578:Olfr994	UTSW	2	85430673	missense	probably benign	0.03
R0848:Olfr994	UTSW	2	85430021	missense	probably benign	0.03
R1844:Olfr994	UTSW	2	85429921	missense	probably benign	0.03
R1912:Olfr994	UTSW	2	85430260	missense	probably damaging	0.97
R1959:Olfr994	UTSW	2	85430619	missense	probably damaging	1.00
R2014:Olfr994	UTSW	2	85430352	missense	possibly damaging	0.89
R2113:Olfr994	UTSW	2	85430086	missense	probably damaging	1.00
R2290:Olfr994	UTSW	2	85430200	missense	possibly damaging	0.64
R3622:Olfr994	UTSW	2	85430493	missense	probably benign	0.12
R3918:Olfr994	UTSW	2	85430730	missense	possibly damaging	0.64
R4175:Olfr994	UTSW	2	85430618	missense	probably damaging	1.00
R4945:Olfr994	UTSW	2	85430551	missense	probably benign	0.03
R6132:Olfr994	UTSW	2	85430146	missense	probably benign	0.06
R6439:Olfr994	UTSW	2	85430724	missense	probably damaging	1.00
R6713:Olfr994	UTSW	2	85430539	missense	probably damaging	1.00
R7065:Olfr994	UTSW	2	85430179	missense	probably damaging	1.00
R7467:Olfr994	UTSW	2	85430827	start codon destroyed	possibly damaging	0.90
R8006:Olfr994	UTSW	2	85429974	missense	probably damaging	1.00
R8021:Olfr994	UTSW	2	85430652	missense	probably damaging	0.98
R8302:Olfr994	UTSW	2	85430086	missense	possibly damaging	0.74
R8468:Olfr994	UTSW	2	85430178	missense	probably damaging	1.00
R9085:Olfr994	UTSW	2	85430275	missense	probably benign	0.00
R9407:Olfr994	UTSW	2	85430716	missense	probably damaging	0.98
R9559:Olfr994	UTSW	2	85430409	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- TTTGATGCACAGAAGGACAGTG -3'
(R):5'- ATGTGACATCCATGGTGGG -3'

Sequencing Primer
(F):5'- TTGATCCCATGAGATAAGAAACAGC -3'
(R):5'- GCAACACTGGGATGATCCTC -3'

Posted On

2019-05-15