Mutagenetix > Incidental Mutation

Incidental Mutation 'R9139:Olfr30'

694226

Institutional Source

Beutler Lab

Gene Symbol

Olfr30

Ensembl Gene

ENSMUSG00000043314

Gene Name

olfactory receptor 30

Synonyms

MTPCR07, MOR281-1, GA_x6K02T2NKPP-957001-957948

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R9139 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58454105-58462270 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58455173 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 259 (T259S)

Ref Sequence

ENSEMBL: ENSMUSP00000148907 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055204] [ENSMUST00000064614] [ENSMUST00000215691]

AlphaFold

Q8VGD8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055204
AA Change: T259S

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000055961
Gene: ENSMUSG00000043314
AA Change: T259S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	1.9e-53	PFAM
Pfam:7TM_GPCR_Srsx	36	252	1.7e-6	PFAM
Pfam:7tm_1	42	291	8.3e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000064614

SMART Domains

Protein: ENSMUSP00000063665
Gene: ENSMUSG00000052642

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:UPAR_LY6	47	124	1.3e-6	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215691
AA Change: T259S

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	G	1: 74,281,546	V288A	possibly damaging	Het
Ankhd1	T	A	18: 36,578,757	S135R		Het
Axl	G	A	7: 25,761,421	T721I	probably damaging	Het
Blnk	G	A	19: 40,934,518	A388V	probably benign	Het
C8b	T	C	4: 104,784,434	V189A	probably damaging	Het
Ccdc33	G	C	9: 58,076,559	I452M	probably benign	Het
Cfap57	T	C	4: 118,554,851	T1199A	probably benign	Het
Chga	G	A	12: 102,561,885	V212M	probably benign	Het
Cspp1	T	A	1: 10,116,650	M887K	probably damaging	Het
Cyp3a16	G	C	5: 145,469,624	A6G	unknown	Het
Cyp4f17	G	T	17: 32,524,894	E349*	probably null	Het
Dnajc13	A	T	9: 104,207,840	D791E	probably benign	Het
Dpysl5	T	C	5: 30,778,053	Y167H	probably benign	Het
Dqx1	G	T	6: 83,059,778	Q254H	possibly damaging	Het
Eef1g	A	G	19: 8,978,019	T411A	probably benign	Het
Fancl	C	A	11: 26,387,231	A6E	probably benign	Het
Gabrr3	A	G	16: 59,407,467	Q29R	probably benign	Het
Gtf2h2	A	C	13: 100,481,270	L168R	probably damaging	Het
Hacl1	T	A	14: 31,616,381	Q413L	probably benign	Het
Hdc	A	T	2: 126,597,917	V372E	probably damaging	Het
Hr	A	T	14: 70,557,639	H208L	possibly damaging	Het
Htr6	T	C	4: 139,062,190	R255G	possibly damaging	Het
Jup	C	T	11: 100,379,565	C372Y	probably damaging	Het
Kank2	A	G	9: 21,770,074	V747A	probably damaging	Het
Kif5c	A	G	2: 49,730,279	T508A	probably benign	Het
Klhdc8b	A	G	9: 108,449,728	V145A	probably damaging	Het
Klk1b21	T	A	7: 44,105,500	V73D	probably damaging	Het
Ksr1	T	A	11: 79,020,746	M737L	probably benign	Het
Macf1	T	C	4: 123,434,771	Y4723C	probably damaging	Het
Mcm7	T	C	5: 138,169,135	Y182C	probably damaging	Het
Mtf2	T	C	5: 108,104,532		probably null	Het
Nrxn2	A	T	19: 6,448,269	T255S	probably benign	Het
Olfr1154	A	T	2: 87,902,764	M304K	probably benign	Het
Olfr1418	A	G	19: 11,855,302	L217P	probably damaging	Het
Olfr248	A	T	1: 174,391,083	T5S	probably damaging	Het
Olfr552	T	A	7: 102,604,978	I208N	probably damaging	Het
Olfr741	T	C	14: 50,486,250	L264P	probably damaging	Het
Pamr1	T	A	2: 102,634,421	V305E	probably benign	Het
Peg10	GAT	GATCAT	6: 4,756,449		probably benign	Het
Peg10	C	T	6: 4,757,128	T568M	unknown	Het
Polr3a	A	G	14: 24,469,348	F664S	probably damaging	Het
Prb1	T	A	6: 132,208,343	N109I	unknown	Het
Prdm2	T	C	4: 143,132,182	I1513V	probably benign	Het
Prkd3	A	C	17: 78,962,540	V564G	possibly damaging	Het
Prss16	A	G	13: 22,008,343	S151P	probably damaging	Het
Rnf150	C	T	8: 82,863,959		probably benign	Het
Rttn	A	G	18: 89,020,137	T786A	probably benign	Het
Scin	A	G	12: 40,063,237	V645A	possibly damaging	Het
Slc25a20	T	A	9: 108,680,199	M177K	probably benign	Het
Slc2a6	G	A	2: 27,024,322	S261L	possibly damaging	Het
Slc4a7	A	T	14: 14,796,115	D1118V	probably damaging	Het
Slc7a2	T	C	8: 40,905,672	W351R	probably damaging	Het
Sp8	G	A	12: 118,848,439	G10S	probably damaging	Het
St8sia2	A	G	7: 73,966,765	I175T	probably damaging	Het
Tas2r122	T	A	6: 132,711,816	N38I	probably benign	Het
Trim31	C	T	17: 36,898,490	T46M	possibly damaging	Het
Trim31	A	G	17: 36,909,253	K354E	probably benign	Het
Trio	G	A	15: 27,749,836	Q2260*	probably null	Het
Trpm1	T	C	7: 64,199,195	I63T	probably benign	Het
Ugt2b37	T	C	5: 87,251,777	K291E	probably benign	Het
Usp54	T	C	14: 20,577,094	T499A	probably benign	Het
Vmn1r35	T	C	6: 66,678,949	I246V	probably benign	Het
Vmn2r6	A	G	3: 64,556,856	S186P	probably benign	Het
Vmn2r76	T	A	7: 86,229,962	M377L	probably benign	Het
Zeb2	A	C	2: 44,988,625	M1243R	possibly damaging	Het

Other mutations in Olfr30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:Olfr30	APN	11	58455262	missense	probably damaging	1.00
IGL02001:Olfr30	APN	11	58455509	missense	probably benign	0.33
IGL02170:Olfr30	APN	11	58455080	missense	probably damaging	1.00
IGL02638:Olfr30	APN	11	58455047	missense	probably damaging	1.00
ANU22:Olfr30	UTSW	11	58455262	missense	probably damaging	1.00
R0502:Olfr30	UTSW	11	58455314	missense	possibly damaging	0.54
R0784:Olfr30	UTSW	11	58455305	missense	possibly damaging	0.63
R1300:Olfr30	UTSW	11	58455841	missense	probably damaging	1.00
R1451:Olfr30	UTSW	11	58455532	missense	probably benign	0.00
R1642:Olfr30	UTSW	11	58455838	missense	probably benign
R1754:Olfr30	UTSW	11	58455262	missense	probably damaging	1.00
R1854:Olfr30	UTSW	11	58455431	missense	probably damaging	1.00
R2920:Olfr30	UTSW	11	58455577	missense	probably damaging	1.00
R3160:Olfr30	UTSW	11	58455227	missense	probably damaging	1.00
R3162:Olfr30	UTSW	11	58455227	missense	probably damaging	1.00
R4791:Olfr30	UTSW	11	58455544	missense	possibly damaging	0.83
R4964:Olfr30	UTSW	11	58455907	missense	probably benign	0.05
R5433:Olfr30	UTSW	11	58455854	missense	probably damaging	0.99
R5543:Olfr30	UTSW	11	58455167	missense	probably damaging	1.00
R6649:Olfr30	UTSW	11	58455568	missense	probably damaging	0.98
R6653:Olfr30	UTSW	11	58455568	missense	probably damaging	0.98
R7388:Olfr30	UTSW	11	58455655	missense	probably damaging	1.00
R7492:Olfr30	UTSW	11	58455889	missense	probably benign	0.28
R7566:Olfr30	UTSW	11	58455663	missense	probably benign	0.02
R7567:Olfr30	UTSW	11	58455166	missense	probably damaging	1.00
R8557:Olfr30	UTSW	11	58455736	missense	probably damaging	1.00
R8777:Olfr30	UTSW	11	58455931	nonsense	probably null
R8777-TAIL:Olfr30	UTSW	11	58455931	nonsense	probably null
R8810:Olfr30	UTSW	11	58455110	missense	possibly damaging	0.54
Z1177:Olfr30	UTSW	11	58455537	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGATGCTGCTGAGAGCTGAG -3'
(R):5'- CAAGCAGGTACTATTTGTGACG -3'

Sequencing Primer
(F):5'- TGAGAGCTGAGGTACCCATCTCTC -3'
(R):5'- CAGGTACTATTTGTGACGGGTGTG -3'

Posted On

2022-01-20