Mutagenetix > Incidental Mutation

Incidental Mutation 'R4656:Or1e30'

352453

Institutional Source

Beutler Lab

Gene Symbol

Or1e30

Ensembl Gene

ENSMUSG00000069818

Gene Name

olfactory receptor family 1 subfamily E member 30

Synonyms

Olfr390, MOR135-26, GA_x6K02T2P1NL-3938806-3939741

MMRRC Submission

041916-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R4656 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73677766-73678701 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73678337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 191 (D191V)

Ref Sequence

ENSEMBL: ENSMUSP00000148992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092919] [ENSMUST00000120081] [ENSMUST00000206815] [ENSMUST00000215161]

AlphaFold

Q8VEZ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000092919
AA Change: D191V

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

SMART Domains

Protein: ENSMUSP00000090598
Gene: ENSMUSG00000069818
AA Change: D191V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2.1e-61	PFAM
Pfam:7TM_GPCR_Srsx	35	305	7.2e-9	PFAM
Pfam:7tm_1	41	290	6.8e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000120081
AA Change: D191V

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

SMART Domains

Protein: ENSMUSP00000113472
Gene: ENSMUSG00000069818
AA Change: D191V

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	35	305	7.2e-9	PFAM
Pfam:7tm_1	41	290	1.4e-36	PFAM
Pfam:7tm_4	139	283	5.6e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000206815

Predicted Effect

probably damaging
Transcript: ENSMUST00000215161
AA Change: D191V

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

Meta Mutation Damage Score

0.5145

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

96% (80/83)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	G	A	5: 88,112,534 (GRCm39)		probably benign	Het
4931406B18Rik	T	A	7: 43,150,565 (GRCm39)	H69L	probably benign	Het
Ace2	T	C	X: 162,936,110 (GRCm39)	S84P	probably benign	Het
Adgb	A	C	10: 10,281,050 (GRCm39)	N656K	probably damaging	Het
Ago3	G	T	4: 126,257,545 (GRCm39)	Y495*	probably null	Het
Ahnak	G	A	19: 8,982,219 (GRCm39)	V1168M	possibly damaging	Het
Armc10	A	G	5: 21,866,548 (GRCm39)	R271G	probably benign	Het
Atp4a	T	G	7: 30,419,373 (GRCm39)		probably benign	Het
Casp1	C	T	9: 5,304,324 (GRCm39)	P333S	probably damaging	Het
Ceacam9	C	T	7: 16,457,574 (GRCm39)	A34V	probably benign	Het
Ces1b	C	G	8: 93,784,042 (GRCm39)	E488Q	probably damaging	Het
Ces2h	A	T	8: 105,741,271 (GRCm39)	T88S	possibly damaging	Het
Cfap410	G	A	10: 77,817,450 (GRCm39)	R59H	probably benign	Het
Col2a1	C	T	15: 97,874,057 (GRCm39)	G1375D	unknown	Het
Cyp1a1	T	C	9: 57,609,893 (GRCm39)	F436L	probably damaging	Het
Dcaf7	T	C	11: 105,944,624 (GRCm39)	V269A	probably damaging	Het
Disp2	T	C	2: 118,621,044 (GRCm39)	L592P	probably damaging	Het
Eda2r	T	A	X: 96,385,239 (GRCm39)	Q171L	probably damaging	Het
Egln2	A	G	7: 26,858,618 (GRCm39)	V408A	probably benign	Het
Gabpb2	A	G	3: 95,096,252 (GRCm39)	L325P	probably damaging	Het
Gigyf1	C	A	5: 137,523,477 (GRCm39)	Y936*	probably null	Het
Gm14149	A	T	2: 151,072,684 (GRCm39)		noncoding transcript	Het
Gnl2	C	T	4: 124,934,790 (GRCm39)	Q149*	probably null	Het
Gpr107	C	T	2: 31,104,261 (GRCm39)	T522M	probably damaging	Het
Grpr	T	A	X: 162,297,992 (GRCm39)	S351C	probably damaging	Het
Gsdma	T	C	11: 98,563,907 (GRCm39)	L287P	probably damaging	Het
Herc1	A	G	9: 66,301,993 (GRCm39)	T652A	probably damaging	Het
Ifi204	C	A	1: 173,587,927 (GRCm39)		probably benign	Het
Irx2	T	C	13: 72,779,417 (GRCm39)	S234P	probably damaging	Het
Itgal	T	A	7: 126,921,725 (GRCm39)	D808E	probably damaging	Het
Krt13	C	A	11: 100,010,189 (GRCm39)	R264L	probably damaging	Het
Marchf1	T	A	8: 66,839,071 (GRCm39)	L38I	probably benign	Het
Megf9	T	C	4: 70,367,004 (GRCm39)	H326R	probably damaging	Het
Mif4gd	G	T	11: 115,499,163 (GRCm39)		probably benign	Het
Mroh9	A	T	1: 162,893,593 (GRCm39)	M194K	probably damaging	Het
Nhlrc3	A	G	3: 53,370,501 (GRCm39)	S22P	probably damaging	Het
Nipal2	A	T	15: 34,577,714 (GRCm39)		probably null	Het
Nr1h4	A	G	10: 89,334,115 (GRCm39)	S78P	probably benign	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Olfr908	A	T	9: 38,427,852 (GRCm39)	N175Y	probably damaging	Het
Or52d13	C	T	7: 103,109,695 (GRCm39)	R235Q	probably benign	Het
Pdzd2	A	G	15: 12,385,797 (GRCm39)	V991A	probably benign	Het
Pex1	G	A	5: 3,654,880 (GRCm39)		probably null	Het
Plch1	G	T	3: 63,611,598 (GRCm39)	A859E	probably damaging	Het
Pramel32	T	C	4: 88,548,202 (GRCm39)	T68A	probably benign	Het
Ranbp2	A	G	10: 58,289,244 (GRCm39)	K84R	possibly damaging	Het
Rbm14	T	C	19: 4,861,463 (GRCm39)	Y25C	probably damaging	Het
Rmi2	A	G	16: 10,653,186 (GRCm39)	D78G	probably damaging	Het
Serpina3k	C	A	12: 104,311,532 (GRCm39)	T370K	probably damaging	Het
Shc2	A	T	10: 79,457,003 (GRCm39)	L538M	probably damaging	Het
Skint1	A	G	4: 111,878,674 (GRCm39)	K202R	probably damaging	Het
Slc22a29	C	A	19: 8,195,664 (GRCm39)	S125I	possibly damaging	Het
Slc5a9	C	A	4: 111,748,941 (GRCm39)		probably null	Het
Slco4c1	A	T	1: 96,768,970 (GRCm39)	D297E	probably benign	Het
Slco6d1	T	C	1: 98,350,928 (GRCm39)	F136S	probably benign	Het
Smg1	A	T	7: 117,812,174 (GRCm39)	V39E	probably benign	Het
Spns1	G	T	7: 125,973,474 (GRCm39)		probably benign	Het
Spsb1	A	G	4: 149,990,867 (GRCm39)		probably null	Het
Sspo	T	G	6: 48,431,010 (GRCm39)	I631S	possibly damaging	Het
Syne2	T	C	12: 76,078,147 (GRCm39)	L4694P	probably damaging	Het
Taf5l	T	C	8: 124,724,844 (GRCm39)	E325G	probably benign	Het
Tars1	A	T	15: 11,394,350 (GRCm39)	S96T	probably damaging	Het
Tdrd12	T	C	7: 35,184,679 (GRCm39)	K745E	probably damaging	Het
Tenm3	A	G	8: 48,746,761 (GRCm39)	Y1015H	probably damaging	Het
Trpv3	T	A	11: 73,186,240 (GRCm39)	M677K	probably damaging	Het
Txlnb	A	T	10: 17,691,024 (GRCm39)	K191N	probably damaging	Het
Ubr1	A	G	2: 120,756,494 (GRCm39)	V711A	probably benign	Het
Uqcrb	T	C	13: 67,049,603 (GRCm39)	T41A	probably benign	Het
Usp6nl	A	G	2: 6,445,973 (GRCm39)	Y627C	probably damaging	Het
Vezf1	A	G	11: 87,965,493 (GRCm39)	D245G	probably damaging	Het
Vmn2r66	A	G	7: 84,661,204 (GRCm39)	W9R	possibly damaging	Het
Wdr17	C	T	8: 55,134,434 (GRCm39)	G349R	probably damaging	Het
Wdr35	T	A	12: 9,066,619 (GRCm39)	M749K	probably benign	Het
Wrn	A	T	8: 33,826,019 (GRCm39)		probably null	Het
Zfy1	T	G	Y: 729,626 (GRCm39)	T339P	unknown	Het

Other mutations in Or1e30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Or1e30	APN	11	73,678,406 (GRCm39)	missense	probably damaging	1.00
IGL01621:Or1e30	APN	11	73,678,103 (GRCm39)	missense	probably damaging	0.99
IGL01630:Or1e30	APN	11	73,678,687 (GRCm39)	missense	probably benign	0.14
IGL01866:Or1e30	APN	11	73,678,654 (GRCm39)	missense	probably benign	0.28
IGL02577:Or1e30	APN	11	73,677,872 (GRCm39)	missense	probably damaging	1.00
IGL02617:Or1e30	APN	11	73,678,560 (GRCm39)	missense	probably benign	0.01
IGL03017:Or1e30	APN	11	73,678,344 (GRCm39)	missense	probably benign	0.01
IGL03215:Or1e30	APN	11	73,678,211 (GRCm39)	missense	probably damaging	1.00
IGL03342:Or1e30	APN	11	73,678,309 (GRCm39)	missense	probably benign	0.03
IGL03098:Or1e30	UTSW	11	73,678,529 (GRCm39)	missense	probably benign	0.29
R0115:Or1e30	UTSW	11	73,678,141 (GRCm39)	missense	possibly damaging	0.45
R0217:Or1e30	UTSW	11	73,678,214 (GRCm39)	missense	possibly damaging	0.90
R1971:Or1e30	UTSW	11	73,678,616 (GRCm39)	missense	probably damaging	1.00
R2033:Or1e30	UTSW	11	73,678,264 (GRCm39)	missense	probably benign	0.15
R2058:Or1e30	UTSW	11	73,678,100 (GRCm39)	missense	probably benign	0.00
R3051:Or1e30	UTSW	11	73,678,060 (GRCm39)	missense	probably benign	0.01
R3622:Or1e30	UTSW	11	73,678,567 (GRCm39)	missense	probably benign	0.00
R3913:Or1e30	UTSW	11	73,678,522 (GRCm39)	missense	probably damaging	1.00
R4545:Or1e30	UTSW	11	73,677,992 (GRCm39)	missense	probably damaging	1.00
R5120:Or1e30	UTSW	11	73,677,790 (GRCm39)	missense	probably benign	0.01
R5635:Or1e30	UTSW	11	73,678,460 (GRCm39)	missense	probably benign	0.26
R6020:Or1e30	UTSW	11	73,678,378 (GRCm39)	missense	probably benign	0.03
R6151:Or1e30	UTSW	11	73,678,521 (GRCm39)	nonsense	probably null
R6885:Or1e30	UTSW	11	73,677,926 (GRCm39)	missense	possibly damaging	0.94
R6984:Or1e30	UTSW	11	73,678,603 (GRCm39)	missense	possibly damaging	0.91
R7057:Or1e30	UTSW	11	73,677,974 (GRCm39)	missense	possibly damaging	0.88
R7120:Or1e30	UTSW	11	73,677,940 (GRCm39)	missense	probably damaging	0.98
R7704:Or1e30	UTSW	11	73,678,616 (GRCm39)	missense	probably damaging	1.00
R8323:Or1e30	UTSW	11	73,677,766 (GRCm39)	start codon destroyed	probably damaging	1.00
R9100:Or1e30	UTSW	11	73,678,687 (GRCm39)	missense	probably benign	0.14
R9258:Or1e30	UTSW	11	73,678,281 (GRCm39)	missense	probably benign	0.28
R9384:Or1e30	UTSW	11	73,677,796 (GRCm39)	missense	probably benign
R9421:Or1e30	UTSW	11	73,677,927 (GRCm39)	missense	probably benign	0.23
R9450:Or1e30	UTSW	11	73,678,101 (GRCm39)	missense	possibly damaging	0.56
R9698:Or1e30	UTSW	11	73,678,442 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATGCCAGTATCATGAGCCCC -3'
(R):5'- TAGCAGATGGACCTAAGTAGATGC -3'

Sequencing Primer
(F):5'- CCCAAGCTCTGTGTGAGTC -3'
(R):5'- TTGTCCCATAGAACAGTGATACC -3'

Posted On

2015-10-08