Mutagenetix > Incidental Mutations

Incidental Mutation 'R5994:Olfr978'

481012

Institutional Source

Beutler Lab

Gene Symbol

Olfr978

Ensembl Gene

ENSMUSG00000044292

Gene Name

olfactory receptor 978

Synonyms

MOR223-3, GA_x6K02T2PVTD-33692287-33693222

MMRRC Submission

044173-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R5994 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39992113-39995095 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 39994223 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 138 (R138*)

Ref Sequence

ENSEMBL: ENSMUSP00000151115 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057161] [ENSMUST00000215523] [ENSMUST00000217600]

Predicted Effect

probably null
Transcript: ENSMUST00000057161
AA Change: R138*

SMART Domains

Protein: ENSMUSP00000060106
Gene: ENSMUSG00000044292
AA Change: R138*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	3.2e-56	PFAM
Pfam:7tm_1	39	287	1.4e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215523

Predicted Effect

probably null
Transcript: ENSMUST00000217600
AA Change: R138*

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,670,903	H1118L	probably benign	Het
Abca8b	A	G	11: 109,949,766		probably null	Het
Abcb5	A	T	12: 118,965,260		probably null	Het
Adcy6	A	T	15: 98,593,664	I1016N	probably damaging	Het
Afg3l2	A	T	18: 67,429,070	C312S	probably damaging	Het
Ano8	C	T	8: 71,484,834	V89M	probably damaging	Het
Arhgap21	C	T	2: 20,881,376	G330D	possibly damaging	Het
Caskin1	T	C	17: 24,496,961	L195P	probably damaging	Het
Cfap54	A	G	10: 93,039,081	I514T	probably damaging	Het
Ctdsp2	G	A	10: 126,995,820		probably benign	Het
Cyp4x1	T	C	4: 115,121,945	I152V	probably benign	Het
Dglucy	G	A	12: 100,842,700	R219Q	probably benign	Het
Disp3	G	T	4: 148,254,284	A810E	possibly damaging	Het
Dtx4	T	C	19: 12,501,153	Y22C	probably damaging	Het
Edaradd	A	T	13: 12,478,496	I105N	probably damaging	Het
Eepd1	C	T	9: 25,603,453	P519S	probably damaging	Het
Fscn3	A	T	6: 28,430,295	S155C	probably benign	Het
Gm10134	A	T	2: 28,506,246	E51V	probably damaging	Het
Gm7247	C	T	14: 51,364,348	S26F	probably benign	Het
Golga7	T	C	8: 23,250,265	E83G	probably benign	Het
Gpr12	T	C	5: 146,583,431	H227R	probably damaging	Het
Hoxa2	T	G	6: 52,164,392	S85R	possibly damaging	Het
Hrnr	T	C	3: 93,332,300	S3282P	unknown	Het
Ift74	C	A	4: 94,691,724	T543K	possibly damaging	Het
Klf10	C	A	15: 38,296,041	R420L	probably damaging	Het
Krt77	T	A	15: 101,862,855	I338F	probably damaging	Het
Limch1	A	T	5: 66,974,622	S152C	probably damaging	Het
Mgat4e	T	A	1: 134,541,496	H270L	probably benign	Het
Myrf	A	T	19: 10,219,117	L504Q	probably null	Het
Nckipsd	A	G	9: 108,813,977	Q366R	probably benign	Het
Npy5r	A	T	8: 66,682,099	V14D	probably benign	Het
Nrap	T	A	19: 56,351,599	R830*	probably null	Het
Ogfrl1	A	T	1: 23,378,989	Y103N	probably damaging	Het
P2rx4	T	A	5: 122,725,079	L232H	probably damaging	Het
Pabpc2	A	T	18: 39,773,894	T71S	probably benign	Het
Paip2b	C	A	6: 83,808,885	S121I	probably damaging	Het
Pofut1	C	T	2: 153,261,229	T261I	possibly damaging	Het
Ppp6c	G	T	2: 39,210,992	T46K	possibly damaging	Het
Prkd2	C	A	7: 16,850,336	H371Q	probably benign	Het
Prrc2c	A	T	1: 162,674,156		probably null	Het
Psd3	C	T	8: 67,719,968	A894T	probably damaging	Het
Pygm	A	T	19: 6,398,043		probably null	Het
Pzp	A	T	6: 128,491,597	M989K	probably damaging	Het
Ralgapa2	A	T	2: 146,361,453	S1159T	probably benign	Het
Rapgefl1	T	C	11: 98,850,160	F575L	probably benign	Het
Rassf6	A	G	5: 90,617,768	L28S	probably damaging	Het
Rbp3	G	T	14: 33,954,900	K268N	probably damaging	Het
Rela	C	T	19: 5,647,064	T433M	possibly damaging	Het
Rnf103	T	A	6: 71,496,910	S102R	probably damaging	Het
Scarf2	A	G	16: 17,806,379	N516S	probably damaging	Het
Sdcbp2	T	C	2: 151,587,483	I241T	probably damaging	Het
Sept7	T	C	9: 25,288,198	I131T	possibly damaging	Het
Sh3pxd2b	T	C	11: 32,407,570	F191L	probably damaging	Het
Siglec15	C	A	18: 78,047,375	C236F	probably damaging	Het
Slc11a2	T	C	15: 100,397,681	T520A	probably benign	Het
Slc26a11	C	A	11: 119,379,912	F553L	probably benign	Het
Smchd1	G	A	17: 71,365,409	P1596S	possibly damaging	Het
Taar7b	A	G	10: 24,000,348	H137R	probably damaging	Het
Thap12	T	A	7: 98,716,030	C468*	probably null	Het
Timp4	C	T	6: 115,247,354	G118D	probably damaging	Het
Tnnt3	A	G	7: 142,511,266	K48E	probably damaging	Het
Trmt10a	T	A	3: 138,156,714	I255N	probably damaging	Het
Ttll10	T	C	4: 156,048,732		probably null	Het
Ube4b	A	G	4: 149,372,932	Y283H	probably damaging	Het
Ucp1	G	T	8: 83,293,938	V126L	possibly damaging	Het
Unc13b	T	A	4: 43,172,596		probably benign	Het
Vps13b	T	C	15: 35,875,772	S2768P	probably damaging	Het
Zcchc6	T	G	13: 59,789,209	Y806S	probably damaging	Het
Zfp101	T	A	17: 33,380,962	M607L	probably benign	Het
Zfp292	C	T	4: 34,805,464	V2527M	possibly damaging	Het
Zfp503	T	A	14: 21,985,562	T429S	possibly damaging	Het

Other mutations in Olfr978

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01570:Olfr978	APN	9	39994329	missense	probably damaging	0.99
IGL02429:Olfr978	APN	9	39993842	missense	probably benign
IGL02887:Olfr978	APN	9	39993813	start codon destroyed	probably null	0.99
R0190:Olfr978	UTSW	9	39994544	missense	probably benign	0.01
R0355:Olfr978	UTSW	9	39994163	missense	possibly damaging	0.72
R1348:Olfr978	UTSW	9	39993828	missense	probably benign
R1856:Olfr978	UTSW	9	39994359	missense	probably benign	0.29
R3853:Olfr978	UTSW	9	39994154	missense	probably damaging	0.99
R3886:Olfr978	UTSW	9	39994539	missense	probably damaging	1.00
R5678:Olfr978	UTSW	9	39993903	missense	probably benign	0.00
R6185:Olfr978	UTSW	9	39994124	missense	probably benign	0.19
R6721:Olfr978	UTSW	9	39994307	missense	possibly damaging	0.55
R7414:Olfr978	UTSW	9	39994053	missense	possibly damaging	0.53
R7556:Olfr978	UTSW	9	39994682	missense	probably damaging	1.00
R8192:Olfr978	UTSW	9	39994171	missense	probably damaging	1.00
R8422:Olfr978	UTSW	9	39994554	missense	probably damaging	0.99
X0025:Olfr978	UTSW	9	39993944	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- ATGACTTTGGTGTCCACAGG -3'
(R):5'- ATCCTCAGGATGGAGCAGAC -3'

Sequencing Primer
(F):5'- AGGGGGCGGGGCTATCTC -3'
(R):5'- AGATGACCATCTCATTGGCTG -3'

Posted On

2017-06-26