Mutagenetix > Incidental Mutation

Incidental Mutation 'R6885:Or1e30'

536803

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

045031-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R6885 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73677766-73678701 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73677926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 54 (H54L)

Ref Sequence

ENSEMBL: ENSMUSP00000148992 (fasta)

Gene Model

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

AlphaFold

Q8VEZ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092919
AA Change: H54L

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000090598
Gene: ENSMUSG00000069818
AA Change: H54L

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

possibly damaging
Transcript: ENSMUST00000120081
AA Change: H54L

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113472
Gene: ENSMUSG00000069818
AA Change: H54L

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

possibly damaging
Transcript: ENSMUST00000206815
AA Change: H54L

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215161
AA Change: H54L

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Meta Mutation Damage Score

0.6216

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

98% (58/59)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,119,332 (GRCm39)	I1025M	probably benign	Het
Adamtsl5	T	A	10: 80,179,465 (GRCm39)	T164S	probably benign	Het
Ankar	C	T	1: 72,682,195 (GRCm39)	A1239T	unknown	Het
Aox4	A	T	1: 58,303,537 (GRCm39)	S1192C	probably damaging	Het
Atl2	T	C	17: 80,159,982 (GRCm39)	D68G	probably damaging	Het
Btnl4	T	C	17: 34,691,919 (GRCm39)	I228V	probably benign	Het
Catsper4	T	C	4: 133,942,460 (GRCm39)	T231A	probably benign	Het
Ccl12	A	T	11: 81,993,523 (GRCm39)	T54S	probably damaging	Het
Cntn1	T	C	15: 92,140,980 (GRCm39)		probably null	Het
Cog5	T	A	12: 31,944,198 (GRCm39)	D694E	probably damaging	Het
Crat	T	A	2: 30,305,208 (GRCm39)		probably benign	Het
Crot	T	C	5: 9,023,635 (GRCm39)	T418A	probably benign	Het
Cubn	G	A	2: 13,323,089 (GRCm39)	P2826L	probably damaging	Het
Dnah17	A	G	11: 117,981,598 (GRCm39)	F1698L	possibly damaging	Het
Dock8	T	A	19: 25,124,742 (GRCm39)	D1019E	possibly damaging	Het
Eps15	A	G	4: 109,166,361 (GRCm39)	N85D	probably damaging	Het
Exoc1	T	C	5: 76,706,889 (GRCm39)	S457P	probably damaging	Het
Ext1	G	A	15: 52,965,088 (GRCm39)	T426I	probably damaging	Het
Fat1	T	C	8: 45,405,489 (GRCm39)	S747P	possibly damaging	Het
Gas7	A	G	11: 67,574,213 (GRCm39)	D396G	probably damaging	Het
Gm5114	G	T	7: 39,057,580 (GRCm39)	R680S	probably benign	Het
Gpcpd1	A	T	2: 132,395,994 (GRCm39)	L94M	possibly damaging	Het
Gse1	C	A	8: 120,956,221 (GRCm39)		probably benign	Het
Hmgb1	T	C	5: 148,987,471 (GRCm39)	E26G	probably benign	Het
Incenp	C	T	19: 9,852,496 (GRCm39)	R714Q	unknown	Het
Krt73	T	C	15: 101,704,833 (GRCm39)	E351G	probably damaging	Het
Ksr1	A	G	11: 78,938,121 (GRCm39)		probably null	Het
Lpin2	T	G	17: 71,522,145 (GRCm39)	S60A	probably damaging	Het
Lrrc71	T	C	3: 87,649,927 (GRCm39)		probably null	Het
Mafb	A	G	2: 160,207,939 (GRCm39)	S220P	possibly damaging	Het
Maml3	TCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	TCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	3: 51,605,000 (GRCm39)			Het
Mcmbp	T	C	7: 128,326,833 (GRCm39)		probably null	Het
Or4s2	A	G	2: 88,473,941 (GRCm39)	T277A	probably damaging	Het
Paqr9	T	C	9: 95,442,096 (GRCm39)	S29P	probably benign	Het
Parm1	A	G	5: 91,742,069 (GRCm39)	T146A	possibly damaging	Het
Pgm2	T	A	5: 64,261,221 (GRCm39)	F238L	probably benign	Het
Pigv	A	T	4: 133,392,792 (GRCm39)	F126Y	probably damaging	Het
Pitx2	T	C	3: 129,012,257 (GRCm39)	M222T	probably damaging	Het
Plekhg6	T	C	6: 125,355,693 (GRCm39)	N37S	probably benign	Het
Pramel25	T	C	4: 143,520,103 (GRCm39)	C116R	probably damaging	Het
Psme4	A	T	11: 30,784,307 (GRCm39)	K961*	probably null	Het
Rbpj	T	C	5: 53,810,493 (GRCm39)	W392R	probably damaging	Het
Reg3a	T	A	6: 78,358,038 (GRCm39)		probably null	Het
Rfc3	C	T	5: 151,571,749 (GRCm39)	S85N	probably benign	Het
Rtn3	T	C	19: 7,435,696 (GRCm39)	T80A	probably benign	Het
Sash1	T	C	10: 8,659,985 (GRCm39)	T195A	probably damaging	Het
Ska1	A	G	18: 74,339,910 (GRCm39)	V12A	probably benign	Het
Slc25a1	A	G	16: 17,745,294 (GRCm39)	V80A	probably benign	Het
Slc26a5	A	T	5: 22,039,342 (GRCm39)	V217D	probably damaging	Het
Slc46a1	A	G	11: 78,357,805 (GRCm39)	D286G	probably benign	Het
Spata2l	A	T	8: 123,962,297 (GRCm39)	L88Q	probably damaging	Het
Sptbn1	T	G	11: 30,088,634 (GRCm39)	Q876P	probably benign	Het
Tenm2	T	A	11: 35,914,407 (GRCm39)	I2377F	possibly damaging	Het
Thbs4	A	T	13: 92,899,377 (GRCm39)	D539E	probably damaging	Het
Tmem154	T	A	3: 84,599,813 (GRCm39)	C162S	possibly damaging	Het
Tpcn1	T	C	5: 120,682,502 (GRCm39)	E502G	probably benign	Het
Traf7	G	A	17: 24,731,266 (GRCm39)	R257C	probably benign	Het
Tsc22d2	T	C	3: 58,323,629 (GRCm39)	Y174H	probably damaging	Het
Usp8	A	G	2: 126,594,230 (GRCm39)	E802G	probably damaging	Het
Vmn1r5	T	C	6: 56,963,042 (GRCm39)	V239A	possibly damaging	Het
Vmn2r99	T	A	17: 19,600,457 (GRCm39)	S494T	possibly damaging	Het
Zbtb38	A	G	9: 96,568,517 (GRCm39)	F856L	probably damaging	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
R4656:Or1e30	UTSW	11	73,678,337 (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
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'- ACATTACAGGAAGATCATGCCTG -3'
(R):5'- GAAGCAGATGGCCACATAGC -3'

Sequencing Primer
(F):5'- TTACAGGAAGATCATGCCTGGAAAC -3'
(R):5'- CATGGCCACAAGTAGGAAGTTCTC -3'

Posted On

2018-10-18