Mutagenetix > Incidental Mutation

Incidental Mutation 'R0119:Or1e34'

20993

Institutional Source

Beutler Lab

Gene Symbol

Or1e34

Ensembl Gene

ENSMUSG00000056921

Gene Name

olfactory receptor family 1 subfamily E member 34

Synonyms

GA_x6K02T2P1NL-4043306-4042374, Olfr394, MOR135-8

MMRRC Submission

038405-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.256) question?

Stock #

R0119 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

73778264-73779196 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 73778656 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 181 (V181I)

Ref Sequence

ENSEMBL: ENSMUSP00000149527 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071478] [ENSMUST00000214284] [ENSMUST00000216608]

AlphaFold

Q8VGR5

Predicted Effect

probably benign
Transcript: ENSMUST00000071478
AA Change: V181I

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000071415
Gene: ENSMUSG00000056921
AA Change: V181I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1.4e-55	PFAM
Pfam:7TM_GPCR_Srsx	33	303	4e-7	PFAM
Pfam:7tm_1	39	288	1.9e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214284
AA Change: V181I

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000216608
AA Change: V181I

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.2%

Validation Efficiency

99% (68/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	G	A	18: 70,602,553 (GRCm39)	Q87*	probably null	Het
Abca13	G	A	11: 9,248,076 (GRCm39)	E2608K	probably benign	Het
Acad9	T	C	3: 36,139,564 (GRCm39)	V388A	probably damaging	Het
Acp3	T	C	9: 104,197,201 (GRCm39)	E146G	probably damaging	Het
Adamts18	A	G	8: 114,501,585 (GRCm39)	I346T	possibly damaging	Het
Adcy8	T	A	15: 64,588,015 (GRCm39)	D894V	probably damaging	Het
Ap3d1	A	G	10: 80,559,449 (GRCm39)		probably benign	Het
Arg2	A	G	12: 79,194,386 (GRCm39)	D70G	probably damaging	Het
Cap1	A	T	4: 122,761,492 (GRCm39)	L130Q	probably damaging	Het
Carmil1	T	A	13: 24,266,003 (GRCm39)	N253I	probably damaging	Het
Caskin2	A	G	11: 115,693,253 (GRCm39)		probably benign	Het
Cd69	C	T	6: 129,247,025 (GRCm39)	S64N	probably benign	Het
Cd96	T	C	16: 45,858,942 (GRCm39)		probably benign	Het
Celf6	C	A	9: 59,510,161 (GRCm39)	T86K	probably benign	Het
Ces1c	A	T	8: 93,833,345 (GRCm39)		probably benign	Het
Ces1c	A	T	8: 93,834,238 (GRCm39)	L351M	probably benign	Het
Cnih3	T	A	1: 181,282,309 (GRCm39)		probably benign	Het
Col15a1	A	T	4: 47,262,950 (GRCm39)	D534V	probably damaging	Het
Cry1	A	G	10: 84,969,104 (GRCm39)		probably null	Het
Csmd3	T	C	15: 47,710,527 (GRCm39)	T1687A	probably benign	Het
Def8	G	A	8: 124,183,234 (GRCm39)	A278T	probably damaging	Het
Defb13	T	C	8: 22,436,877 (GRCm39)		probably benign	Het
Dnah1	C	T	14: 30,998,115 (GRCm39)	G2574D	probably damaging	Het
Dnah8	T	A	17: 30,934,483 (GRCm39)	F1489L	possibly damaging	Het
Elmo3	T	C	8: 106,036,400 (GRCm39)	L668S	probably damaging	Het
Elp2	T	C	18: 24,767,466 (GRCm39)	I716T	probably benign	Het
Fshr	C	G	17: 89,316,713 (GRCm39)	S169T	probably benign	Het
Gm6327	T	C	16: 12,579,061 (GRCm39)		noncoding transcript	Het
Gm839	A	T	6: 89,189,362 (GRCm39)		noncoding transcript	Het
Gng5	T	A	3: 146,209,048 (GRCm39)	C39S	probably damaging	Het
Gpr55	C	T	1: 85,869,146 (GRCm39)	W145*	probably null	Het
Hdlbp	A	C	1: 93,349,059 (GRCm39)		probably benign	Het
Man2a2	G	T	7: 80,017,153 (GRCm39)	N305K	probably damaging	Het
Me2	A	G	18: 73,903,744 (GRCm39)	S575P	probably benign	Het
Mier3	T	C	13: 111,851,572 (GRCm39)	V490A	probably damaging	Het
Mpdz	T	C	4: 81,210,768 (GRCm39)	T1693A	probably benign	Het
Mss51	T	A	14: 20,534,756 (GRCm39)	Q338L	possibly damaging	Het
Muc4	A	T	16: 32,569,013 (GRCm39)		probably benign	Het
Mug2	T	A	6: 122,013,022 (GRCm39)	H311Q	probably benign	Het
Neto1	G	A	18: 86,479,445 (GRCm39)	R211Q	probably benign	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Nisch	A	G	14: 30,893,881 (GRCm39)	Y1231H	probably damaging	Het
Obox3	T	A	7: 15,360,252 (GRCm39)		probably null	Het
Optn	C	T	2: 5,028,926 (GRCm39)	G526R	probably damaging	Het
Pcdh15	T	C	10: 74,006,407 (GRCm39)	F95S	probably damaging	Het
Pcsk6	T	C	7: 65,688,791 (GRCm39)	V820A	probably benign	Het
Pde5a	A	G	3: 122,542,107 (GRCm39)	N199S	probably damaging	Het
Pdgfrb	T	A	18: 61,201,924 (GRCm39)	V496E	probably benign	Het
Per3	A	G	4: 151,109,005 (GRCm39)		probably benign	Het
Pip4k2b	A	T	11: 97,613,762 (GRCm39)		probably benign	Het
Podn	G	T	4: 107,878,791 (GRCm39)	L359I	probably damaging	Het
Rad21	A	T	15: 51,828,426 (GRCm39)	D547E	probably benign	Het
Rere	T	G	4: 150,699,779 (GRCm39)		probably benign	Het
Serpina1d	A	T	12: 103,732,016 (GRCm39)	L281Q	probably damaging	Het
Serpina9	T	C	12: 103,967,729 (GRCm39)	N222S	probably benign	Het
Sh3bgrl2	A	G	9: 83,459,612 (GRCm39)	K57E	probably damaging	Het
Sh3bgrl3	A	T	4: 133,855,347 (GRCm39)	I33N	probably damaging	Het
Sik3	T	C	9: 46,120,038 (GRCm39)	M659T	possibly damaging	Het
Sppl3	T	A	5: 115,227,053 (GRCm39)		probably benign	Het
Tacc2	C	A	7: 130,223,605 (GRCm39)	Q116K	probably damaging	Het
Tecta	T	C	9: 42,263,359 (GRCm39)	D1409G	probably damaging	Het
Tnpo3	A	G	6: 29,568,921 (GRCm39)	V477A	possibly damaging	Het
Trim7	G	T	11: 48,740,539 (GRCm39)	R212L	probably damaging	Het
Trpm6	T	A	19: 18,809,957 (GRCm39)	C1118S	probably benign	Het
Ugcg	G	C	4: 59,217,036 (GRCm39)	V187L	possibly damaging	Het
Vmn1r27	A	G	6: 58,192,704 (GRCm39)	F100S	possibly damaging	Het
Zbtb18	A	G	1: 177,275,723 (GRCm39)	E361G	probably benign	Het
Zzef1	T	C	11: 72,712,677 (GRCm39)	V199A	probably benign	Het

Other mutations in Or1e34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Or1e34	APN	11	73,779,075 (GRCm39)	missense	probably damaging	1.00
IGL01655:Or1e34	APN	11	73,778,753 (GRCm39)	missense	probably benign	0.01
IGL02173:Or1e34	APN	11	73,778,949 (GRCm39)	missense	possibly damaging	0.72
IGL02308:Or1e34	APN	11	73,779,121 (GRCm39)	missense	probably benign	0.09
IGL02656:Or1e34	APN	11	73,778,865 (GRCm39)	missense	probably damaging	0.98
R0079:Or1e34	UTSW	11	73,778,563 (GRCm39)	missense	probably benign	0.22
R0136:Or1e34	UTSW	11	73,778,656 (GRCm39)	missense	probably benign	0.11
R0136:Or1e34	UTSW	11	73,778,611 (GRCm39)	missense	probably benign	0.00
R0255:Or1e34	UTSW	11	73,778,655 (GRCm39)	missense	probably benign
R0545:Or1e34	UTSW	11	73,778,843 (GRCm39)	nonsense	probably null
R0599:Or1e34	UTSW	11	73,778,730 (GRCm39)	missense	probably benign	0.19
R0655:Or1e34	UTSW	11	73,778,631 (GRCm39)	missense	possibly damaging	0.88
R0657:Or1e34	UTSW	11	73,778,656 (GRCm39)	missense	probably benign	0.11
R0657:Or1e34	UTSW	11	73,778,611 (GRCm39)	missense	probably benign	0.00
R0720:Or1e34	UTSW	11	73,778,688 (GRCm39)	missense	probably benign	0.12
R1112:Or1e34	UTSW	11	73,779,060 (GRCm39)	missense	probably damaging	0.99
R2353:Or1e34	UTSW	11	73,778,660 (GRCm39)	missense	probably benign	0.02
R2924:Or1e34	UTSW	11	73,778,337 (GRCm39)	missense	probably damaging	0.99
R4583:Or1e34	UTSW	11	73,778,629 (GRCm39)	missense	probably damaging	1.00
R5231:Or1e34	UTSW	11	73,778,781 (GRCm39)	missense	probably damaging	1.00
R5537:Or1e34	UTSW	11	73,778,523 (GRCm39)	missense	probably benign	0.02
R5806:Or1e34	UTSW	11	73,778,373 (GRCm39)	missense	probably damaging	0.99
R7131:Or1e34	UTSW	11	73,778,780 (GRCm39)	nonsense	probably null
R7325:Or1e34	UTSW	11	73,779,101 (GRCm39)	missense	probably benign	0.19
R7361:Or1e34	UTSW	11	73,778,827 (GRCm39)	missense	probably damaging	1.00
R9446:Or1e34	UTSW	11	73,778,530 (GRCm39)	missense	probably benign	0.18
R9711:Or1e34	UTSW	11	73,778,696 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTGGATGCCTTGAGTAGATGGAACC -3'
(R):5'- CTCTGTCACAATGCCCAAATTGCTG -3'

Sequencing Primer
(F):5'- CCTTGAGTAGATGGAACCTTAAGAG -3'
(R):5'- GAGGTTGCCTGGCACAAATATTC -3'

Posted On

2013-04-11