Mutagenetix > Incidental Mutation

Incidental Mutation 'R8777:Olfr30'

664764

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

068720-MU

Accession Numbers

Essential gene?

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

Stock #

R8777 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58454105-58462270 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 58455931 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 6 (W6*)

Ref Sequence

ENSEMBL: ENSMUSP00000148907 (fasta)

Gene Model

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

AlphaFold

Q8VGD8

Predicted Effect

probably null
Transcript: ENSMUST00000055204
AA Change: W6*

SMART Domains

Protein: ENSMUSP00000055961
Gene: ENSMUSG00000043314
AA Change: W6*

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

probably null
Transcript: ENSMUST00000215691
AA Change: W6*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830010M20Rik	T	G	5: 107,510,427	I1621R	probably damaging	Het
Abcb4	A	T	5: 8,939,894	T816S	probably benign	Het
Aff4	G	A	11: 53,399,956	S581N	probably damaging	Het
Aimp2	G	A	5: 143,903,007	A253V	probably damaging	Het
Arl6ip4	T	G	5: 124,116,548	S35A	probably benign	Het
Atp1a4	A	T	1: 172,232,302	Y787N	probably damaging	Het
Ccdc169	T	C	3: 55,150,913	S13P	probably damaging	Het
Ccdc186	G	A	19: 56,813,361	S108F	probably damaging	Het
Ccdc39	G	A	3: 33,839,133	T101I	probably benign	Het
Cdh13	G	T	8: 119,236,967		probably null	Het
Clec1b	A	T	6: 129,403,574	E151V	probably benign	Het
Cplx1	T	A	5: 108,525,569		probably null	Het
Diablo	T	A	5: 123,517,927	I150F	unknown	Het
Esp31	T	C	17: 38,644,691	V75A	probably benign	Het
Gm49336	G	A	14: 60,228,736	L458F	probably damaging	Het
Gm6502	A	G	5: 94,317,168	D471G	probably benign	Het
Grin3b	A	T	10: 79,973,138	S241C	possibly damaging	Het
Gxylt2	A	G	6: 100,750,471	N182S	probably damaging	Het
Hephl1	T	G	9: 15,060,794	D950A	probably benign	Het
Hkdc1	A	G	10: 62,398,833	I556T	possibly damaging	Het
Ints4	C	A	7: 97,485,020	A53D	probably damaging	Het
Kmt5c	T	C	7: 4,742,713	V124A	possibly damaging	Het
Lrpprc	T	A	17: 84,751,229	Q734H	probably benign	Het
Map1b	T	C	13: 99,430,796	T1806A	unknown	Het
Mcmbp	A	T	7: 128,707,131	F389I	probably damaging	Het
Mcrs1	C	T	15: 99,243,356	G422S	probably damaging	Het
Mgam	A	G	6: 40,655,251	H173R	probably damaging	Het
Mib1	G	A	18: 10,747,422	G200S	probably benign	Het
Myh13	A	T	11: 67,361,335	Q1423L	possibly damaging	Het
Myh2	A	G	11: 67,192,572	R1454G	possibly damaging	Het
Mylk4	C	T	13: 32,729,106	V70I	probably benign	Het
Myof	A	G	19: 37,980,393	V358A	probably benign	Het
Ncor1	T	A	11: 62,433,666	I48F	probably benign	Het
Ncor1	T	A	11: 62,433,668	H47L	probably damaging	Het
Neurog2	G	T	3: 127,634,093	R122L	probably damaging	Het
Npdc1	T	A	2: 25,408,117	L193Q	probably damaging	Het
Nrxn3	A	G	12: 89,260,464	N290D	probably damaging	Het
Nynrin	T	C	14: 55,871,663	M1409T	probably benign	Het
Oas1h	T	C	5: 120,867,044	L185P	probably damaging	Het
Olfr248	A	T	1: 174,391,282	Y71F	probably damaging	Het
Olfr788	T	A	10: 129,473,505	V271E	possibly damaging	Het
Osbpl8	T	A	10: 111,293,113	N853K	probably benign	Het
Papd7	T	A	13: 69,510,705	D337V	probably damaging	Het
Pcsk4	G	T	10: 80,323,723	P405Q	probably benign	Het
Piwil4	A	C	9: 14,739,389		probably null	Het
Pkhd1l1	T	C	15: 44,498,571	Y547H	probably damaging	Het
Rft1	T	C	14: 30,660,199	L51P	probably damaging	Het
Rufy2	T	G	10: 62,997,881	L241V	possibly damaging	Het
Slc5a5	T	C	8: 70,891,290	I155V	possibly damaging	Het
Slc7a2	T	G	8: 40,898,954	M18R	probably damaging	Het
Snapc4	A	G	2: 26,369,363	S592P	probably benign	Het
Strn4	T	C	7: 16,816,608	W86R	probably damaging	Het
Tenm4	A	G	7: 96,896,037	N2457S	probably damaging	Het
Timd4	C	A	11: 46,815,482	T37N	possibly damaging	Het
Tmem268	T	A	4: 63,577,839	N172K	probably damaging	Het
Trrap	T	A	5: 144,837,139	V2855D	probably benign	Het
Tubb6	A	T	18: 67,401,528	T166S	probably damaging	Het
Tufm	A	G	7: 126,488,862	Y179C	probably benign	Het
Ube2r2	C	T	4: 41,190,715	S203L	possibly damaging	Het
Vldlr	G	T	19: 27,240,546	V465L	probably benign	Het
Vmn2r16	C	T	5: 109,340,365	T368M	probably benign	Het
Vmn2r42	A	G	7: 8,192,693	F485L	probably benign	Het
Zcchc6	T	C	13: 59,785,783	N1302D	probably benign	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-TAIL:Olfr30	UTSW	11	58455931	nonsense	probably null
R8810:Olfr30	UTSW	11	58455110	missense	possibly damaging	0.54
R9139:Olfr30	UTSW	11	58455173	missense	possibly damaging	0.92
Z1177:Olfr30	UTSW	11	58455537	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCATCTTGGGGACAGTGACAG -3'
(R):5'- CACTGCTTTCACTACAGGCTATG -3'

Sequencing Primer
(F):5'- TCCAGGAAGGACAGCTGGC -3'
(R):5'- GGCTATGATCTCAATAATGGTTTTCC -3'

Posted On

2021-03-08