Mutagenetix > Incidental Mutation

Incidental Mutation 'R7388:Olfr30'

573265

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

045470-MU

Accession Numbers

Essential gene?

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

Stock #

R7388 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58454105-58462270 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 58455655 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 98 (C98Y)

Ref Sequence

ENSEMBL: ENSMUSP00000148907 (fasta)

Gene Model

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

AlphaFold

Q8VGD8

Predicted Effect

probably damaging
Transcript: ENSMUST00000055204
AA Change: C98Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000055961
Gene: ENSMUSG00000043314
AA Change: C98Y

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 damaging
Transcript: ENSMUST00000215691
AA Change: C98Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

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

Validation Efficiency

100% (63/63)

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
1700013F07Rik	T	C	3: 108,543,499	F86L	possibly damaging	Het
Afg3l2	T	C	18: 67,422,953	E436G	probably damaging	Het
Agbl5	T	A	5: 30,903,239	L759*	probably null	Het
Ankrd13b	T	C	11: 77,472,757	D460G	probably benign	Het
Apol10a	A	G	15: 77,489,025	D287G	possibly damaging	Het
Arhgap44	A	T	11: 65,024,268	Y391*	probably null	Het
Asz1	G	T	6: 18,074,901	S271R	probably benign	Het
AW554918	A	G	18: 25,340,113	N325D	probably benign	Het
Brinp2	A	T	1: 158,255,009	L247Q	probably damaging	Het
Casz1	A	G	4: 148,952,393	D1704G	unknown	Het
Cdk5rap1	G	A	2: 154,360,675	R212W	probably damaging	Het
Cdkl2	T	A	5: 92,019,459	T444S	probably benign	Het
Cers2	T	G	3: 95,321,345	F160V	probably benign	Het
Cga	T	A	4: 34,907,076	M99K	probably benign	Het
Cspp1	C	T	1: 10,065,347	R138*	probably null	Het
Dao	T	G	5: 114,015,212	*133E	probably null	Het
Ddx1	A	T	12: 13,225,455	C544S	probably null	Het
Dgkq	A	T	5: 108,658,246	V98E	probably damaging	Het
Dnah6	T	A	6: 73,192,317	T434S	possibly damaging	Het
Dntt	A	G	19: 41,038,979	N162D	probably benign	Het
Dpysl5	T	C	5: 30,745,461	V79A	probably benign	Het
E130309D02Rik	G	A	5: 143,311,845	A149V	probably benign	Het
Ep300	T	C	15: 81,648,366	C1602R	unknown	Het
Flrt3	C	T	2: 140,661,752		probably null	Het
Gk2	A	G	5: 97,456,898	V27A	probably damaging	Het
Gm11639	T	C	11: 104,721,045	L571P	probably damaging	Het
Gnpat	T	G	8: 124,887,814	M663R	probably benign	Het
Hc	A	T	2: 34,984,847		probably null	Het
Il12rb1	A	G	8: 70,810,627	Y67C	probably damaging	Het
Kmt2b	C	T	7: 30,581,960	D1229N	probably damaging	Het
Lamc1	T	C	1: 153,249,076	T650A	probably damaging	Het
Lrp1	G	A	10: 127,583,897	R948*	probably null	Het
Map3k21	T	C	8: 125,927,597	I385T	probably damaging	Het
Mmrn1	T	A	6: 60,976,252	S506T	probably benign	Het
Nlrp1a	A	G	11: 71,123,197	F409S	probably damaging	Het
Nlrp3	T	A	11: 59,565,066	I896N	probably benign	Het
Noxred1	C	A	12: 87,227,025	V81L	probably damaging	Het
Nrcam	A	T	12: 44,598,489	I1225F	probably damaging	Het
Otos	T	A	1: 92,644,519		probably null	Het
Pcdh20	A	G	14: 88,468,667	I399T	probably benign	Het
Pkhd1	C	T	1: 20,239,304	V2807I	not run	Het
Prrx2	A	G	2: 30,880,890	E235G	probably damaging	Het
Rab13	T	C	3: 90,221,020	I41T	probably damaging	Het
Rai1	A	C	11: 60,189,375	T1422P	possibly damaging	Het
Rcn1	C	T	2: 105,391,991	V217M	probably damaging	Het
Scn2a	T	A	2: 65,688,654	V408E	probably damaging	Het
Sec16a	C	T	2: 26,428,364	A121T		Het
Slc35d1	A	G	4: 103,189,785		probably null	Het
Slc39a6	A	T	18: 24,584,049	V642E	probably damaging	Het
Slc6a19	G	A	13: 73,693,084	A69V	probably benign	Het
Spink6	A	T	18: 44,082,319	T79S	probably damaging	Het
Spire1	T	C	18: 67,519,880	D170G	probably damaging	Het
Sugp1	T	C	8: 70,052,619	S79P	probably damaging	Het
Syne3	A	G	12: 104,967,908	Y201H	probably damaging	Het
Tbc1d10a	T	C	11: 4,205,858		probably null	Het
Tmem14a	C	T	1: 21,229,511	Q122*	probably null	Het
Tmem161b	C	A	13: 84,222,418		probably benign	Het
Trmt61a	A	G	12: 111,678,887	I86V	possibly damaging	Het
Tubgcp4	G	A	2: 121,189,966		probably null	Het
Vmn1r79	T	A	7: 12,176,741	Y183*	probably null	Het
Vmn2r11	A	T	5: 109,054,876	W112R	probably benign	Het
Vpreb1	T	C	16: 16,868,652	K125E	probably benign	Het
Wdr6	A	T	9: 108,574,772	F637L	probably 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
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
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'- AAGTCTGAATGGAGGCGTTG -3'
(R):5'- CCTGTTCCTGTTCAGCATGG -3'

Sequencing Primer
(F):5'- TGGAGGCGTTGAGGGACC -3'
(R):5'- GGTCTACATCCTTGCTATGGC -3'

Posted On

2019-09-13