Mutagenetix > Incidental Mutation

Incidental Mutation 'R0355:Olfr978'

29771

Institutional Source

Beutler Lab

Gene Symbol

Olfr978

Ensembl Gene

ENSMUSG00000044292

Gene Name

olfactory receptor 978

Synonyms

MOR223-3, GA_x6K02T2PVTD-33692287-33693222

MMRRC Submission

038561-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R0355 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39992113-39995095 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39994163 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 118 (S118T)

Ref Sequence

ENSEMBL: ENSMUSP00000151115 (fasta)

Gene Model

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

AlphaFold

E9Q985

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057161
AA Change: S118T

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000060106
Gene: ENSMUSG00000044292
AA Change: S118T

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

possibly damaging
Transcript: ENSMUST00000217600
AA Change: S118T

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)

Meta Mutation Damage Score

0.2591

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.3%
20x: 90.2%

Validation Efficiency

100% (76/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	G	7: 120,423,798	I52M	possibly damaging	Het
Agbl5	G	T	5: 30,891,991		probably null	Het
Akt2	T	C	7: 27,636,909		probably benign	Het
Arl6ip5	T	A	6: 97,232,417	S138T	probably damaging	Het
Atp9b	A	G	18: 80,909,585		probably benign	Het
Ccdc144b	A	G	3: 36,046,905		probably benign	Het
Ccdc171	A	T	4: 83,635,682	N422Y	probably damaging	Het
Ccr5	C	T	9: 124,124,914	P185S	possibly damaging	Het
Cep63	G	T	9: 102,623,560	Q38K	probably benign	Het
Cgn	T	C	3: 94,774,932	S446G	probably benign	Het
Col16a1	T	A	4: 130,058,413		probably benign	Het
Csmd1	T	A	8: 15,918,330	Q3099L	probably damaging	Het
Dcc	G	A	18: 71,575,208	T479I	possibly damaging	Het
Dclre1a	A	G	19: 56,546,635		probably null	Het
Dlg1	T	A	16: 31,684,174	C66*	probably null	Het
Dnah12	T	A	14: 26,706,117		probably null	Het
Dnajb9	T	A	12: 44,207,204	H140L	probably damaging	Het
Dnase1	G	A	16: 4,039,549	V237M	probably damaging	Het
Dscam	C	A	16: 96,654,905	E1274D	probably benign	Het
Epb41	T	C	4: 132,000,261	H243R	probably damaging	Het
Evc	T	A	5: 37,316,312		probably benign	Het
Fcgrt	T	A	7: 45,103,069	M1L	unknown	Het
Flii	T	C	11: 60,719,680		probably null	Het
Gen1	A	G	12: 11,248,354		probably benign	Het
Gm10447	T	C	11: 53,456,430		probably benign	Het
Gm8674	A	T	13: 49,901,939		noncoding transcript	Het
Gpr137	G	C	19: 6,939,123	D253E	probably damaging	Het
Grid2ip	A	T	5: 143,357,897	D116V	probably benign	Het
Grin2c	A	G	11: 115,260,728		probably benign	Het
Havcr1	A	G	11: 46,756,224	T162A	possibly damaging	Het
Hspa1l	A	T	17: 34,977,410	T142S	probably benign	Het
Ift140	T	A	17: 25,048,435	Y602*	probably null	Het
Il18	T	A	9: 50,579,275		probably benign	Het
Ilf3	T	C	9: 21,397,970	V474A	probably damaging	Het
Inppl1	T	C	7: 101,827,457	Y771C	probably damaging	Het
Ints2	T	C	11: 86,234,749	T542A	probably benign	Het
Ipo7	T	C	7: 110,049,661	Y714H	probably benign	Het
Itgbl1	T	A	14: 123,840,585	C162*	probably null	Het
Kcp	T	C	6: 29,496,927	H561R	possibly damaging	Het
Krt23	G	T	11: 99,485,787	T181N	probably benign	Het
Lrrc40	A	T	3: 158,040,471	D61V	probably damaging	Het
Lypd4	T	A	7: 24,865,266	H149L	probably benign	Het
Map3k4	A	G	17: 12,254,171	F953L	probably damaging	Het
Mctp1	C	T	13: 76,824,863	P405S	probably damaging	Het
Mfsd2a	G	A	4: 122,951,839	T173I	possibly damaging	Het
Mtus1	T	C	8: 41,082,928	T584A	probably benign	Het
Nell2	A	G	15: 95,432,901	V213A	probably benign	Het
Nipsnap1	G	A	11: 4,889,957	G226E	probably damaging	Het
Nudt15	T	C	14: 73,523,384	Y89C	probably damaging	Het
Olfr1341	T	A	4: 118,709,611	M68K	probably benign	Het
Olfr1353	T	G	10: 78,970,433	S261R	probably damaging	Het
Olfr63	T	A	17: 33,269,135	M137K	probably damaging	Het
Phf24	A	C	4: 42,933,891	E91A	probably damaging	Het
Plbd1	T	A	6: 136,641,167	N17I	possibly damaging	Het
Por	C	T	5: 135,732,584	S308L	probably benign	Het
Prmt8	T	A	6: 127,711,874	K178*	probably null	Het
Rev3l	A	G	10: 39,817,286	N454S	probably damaging	Het
Rps6ka2	T	C	17: 7,271,610	V309A	probably benign	Het
Slc15a5	A	G	6: 138,018,114		probably benign	Het
Slc30a6	G	A	17: 74,423,203	V363I	probably benign	Het
Snf8	G	A	11: 96,039,299	M42I	probably benign	Het
Stom	T	C	2: 35,325,359	I65V	probably benign	Het
Tacr3	C	T	3: 134,932,228	T382I	probably benign	Het
Tenm3	A	G	8: 48,228,975	V2540A	probably damaging	Het
Trabd	A	G	15: 89,085,613	T314A	possibly damaging	Het
Tyk2	T	C	9: 21,114,190		probably null	Het
Ube4a	T	C	9: 44,944,801		probably benign	Het
Unc80	A	G	1: 66,549,856	H1060R	possibly damaging	Het
Virma	A	T	4: 11,528,626	K1288*	probably null	Het
Vmn2r100	A	C	17: 19,531,320	I542L	probably benign	Het
Vwde	T	C	6: 13,187,807		probably benign	Het
Zfc3h1	T	C	10: 115,409,113	I797T	possibly damaging	Het
Zfp74	C	T	7: 29,954,041		probably benign	Het
Zkscan7	T	A	9: 122,888,807	L89Q	probably 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
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
R5994:Olfr978	UTSW	9	39994223	nonsense	probably null
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
R9323:Olfr978	UTSW	9	39994064	missense	possibly damaging	0.88
X0025:Olfr978	UTSW	9	39993944	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- GGACTCCATGCTCTTTGGGATCTTC -3'
(R):5'- TGGATCTGGTTGGGACCACAGTAG -3'

Sequencing Primer
(F):5'- GGAAACCTTCTCATCCTGACGG -3'
(R):5'- ACCACAGTAGGGCAAATGG -3'

Posted On

2013-04-24