Mutagenetix > Incidental Mutation

Incidental Mutation 'R0655:Or1e34'

62507

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

038840-MU

Accession Numbers

Essential gene?

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

Stock #

R0655 (G1)

Quality Score

107

Status

Not validated

Chromosome

Chromosomal Location

73778264-73779196 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73778631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 189 (D189G)

Ref Sequence

ENSEMBL: ENSMUSP00000149527 (fasta)

Gene Model

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

AlphaFold

Q8VGR5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071478
AA Change: D189G

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000071415
Gene: ENSMUSG00000056921
AA Change: D189G

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

possibly damaging
Transcript: ENSMUST00000214284
AA Change: D189G

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216608
AA Change: D189G

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.7%
20x: 95.8%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	G	C	17: 36,268,737 (GRCm39)	I757M	probably benign	Het
Abtb3	A	G	10: 85,481,390 (GRCm39)	T931A	probably damaging	Het
Atg16l1	T	A	1: 87,694,551 (GRCm39)	I76N	probably damaging	Het
Baz1b	T	A	5: 135,271,284 (GRCm39)	I1289N	probably benign	Het
Bcl2l15	T	A	3: 103,740,285 (GRCm39)		probably null	Het
Cbl	G	T	9: 44,070,049 (GRCm39)	T566K	probably damaging	Het
Cd96	T	C	16: 45,919,482 (GRCm39)	K180E	probably benign	Het
Cpxm2	G	A	7: 131,656,549 (GRCm39)	T571I	possibly damaging	Het
Cyp2a12	A	T	7: 26,736,046 (GRCm39)	Y485F	probably benign	Het
Cyp4f17	T	A	17: 32,743,871 (GRCm39)	Y350N	possibly damaging	Het
Dstn	T	A	2: 143,780,342 (GRCm39)	I14N	probably damaging	Het
Eea1	A	G	10: 95,831,460 (GRCm39)	S184G	probably benign	Het
Eif1a	G	T	18: 46,741,130 (GRCm39)	G122C	probably damaging	Het
Esf1	T	A	2: 139,990,799 (GRCm39)	T562S	probably benign	Het
Fem1c	G	A	18: 46,638,227 (GRCm39)	R592C	probably benign	Het
Fig4	T	C	10: 41,161,673 (GRCm39)	N30S	probably damaging	Het
Gria2	C	A	3: 80,639,377 (GRCm39)	E212*	probably null	Het
Gsdmc2	C	T	15: 63,699,622 (GRCm39)	A269T	probably benign	Het
Herc4	T	C	10: 63,109,350 (GRCm39)	V195A	probably benign	Het
Hivep1	T	C	13: 42,321,061 (GRCm39)	S2123P	probably damaging	Het
Hspa4	T	C	11: 53,160,519 (GRCm39)	E519G	probably benign	Het
Htr2b	A	G	1: 86,038,565 (GRCm39)	S14P	probably benign	Het
Ifit1	T	C	19: 34,625,047 (GRCm39)	V61A	probably damaging	Het
Ifitm1	C	A	7: 140,549,449 (GRCm39)	F77L	probably benign	Het
Matn2	T	C	15: 34,345,346 (GRCm39)	S118P	probably benign	Het
Mtmr3	C	A	11: 4,438,610 (GRCm39)	D615Y	probably damaging	Het
Mtss1	C	A	15: 58,953,351 (GRCm39)	C9F	probably damaging	Het
Muc5b	A	T	7: 141,417,679 (GRCm39)	I3542F	probably benign	Het
Nwd2	T	C	5: 63,948,928 (GRCm39)	S167P	possibly damaging	Het
Or2ag1b	A	T	7: 106,288,632 (GRCm39)	F102Y	probably damaging	Het
Or8b54	C	T	9: 38,686,850 (GRCm39)	Q100*	probably null	Het
Oscp1	T	C	4: 125,952,526 (GRCm39)	L18P	probably damaging	Het
Pax5	A	G	4: 44,537,462 (GRCm39)	S297P	probably damaging	Het
Phldb3	A	T	7: 24,323,797 (GRCm39)	D476V	probably benign	Het
Phlpp2	A	T	8: 110,622,219 (GRCm39)	I154L	probably benign	Het
Prx	T	A	7: 27,216,846 (GRCm39)	V449E	probably damaging	Het
Psd3	A	G	8: 68,416,341 (GRCm39)	S519P	probably benign	Het
Rnf138	T	G	18: 21,143,840 (GRCm39)	V128G	probably benign	Het
Safb	T	A	17: 56,904,803 (GRCm39)	S209T	probably benign	Het
Sbno1	C	A	5: 124,514,212 (GRCm39)	V1327L	possibly damaging	Het
Scarb1	A	G	5: 125,377,504 (GRCm39)	V176A	probably damaging	Het
Scd4	A	G	19: 44,327,407 (GRCm39)	H161R	possibly damaging	Het
Selenoo	T	A	15: 88,979,858 (GRCm39)	H335Q	probably damaging	Het
Slfn8	A	G	11: 82,894,647 (GRCm39)	F664S	probably benign	Het
Spef2	T	C	15: 9,626,217 (GRCm39)	I1116M	possibly damaging	Het
Taf2	G	A	15: 54,901,690 (GRCm39)	R835W	probably damaging	Het
Tdrd9	A	G	12: 112,006,899 (GRCm39)	E921G	probably damaging	Het
Tectb	G	A	19: 55,178,302 (GRCm39)	G234S	possibly damaging	Het
Tmc1	C	T	19: 20,776,540 (GRCm39)	M606I	probably damaging	Het
Tmed10	T	A	12: 85,390,291 (GRCm39)	I88F	probably damaging	Het
Tnfrsf11a	G	A	1: 105,735,880 (GRCm39)	V31I	unknown	Het
Trp53inp2	G	T	2: 155,228,088 (GRCm39)	G98*	probably null	Het
Tssc4	A	G	7: 142,623,782 (GRCm39)	D30G	probably damaging	Het
Uaca	T	C	9: 60,779,311 (GRCm39)	Y1233H	probably benign	Het
Unc13c	G	A	9: 73,838,235 (GRCm39)	T872I	probably damaging	Het
Unc80	A	G	1: 66,542,940 (GRCm39)	H398R	probably damaging	Het
Vmn1r64	G	A	7: 5,887,207 (GRCm39)	T112I	probably benign	Het
Vmn1r85	A	G	7: 12,818,650 (GRCm39)	Y165H	probably damaging	Het
Vmn2r72	A	T	7: 85,387,319 (GRCm39)	C748*	probably null	Het
Wdr17	A	G	8: 55,102,233 (GRCm39)	W929R	probably damaging	Het
Yeats2	A	T	16: 20,012,574 (GRCm39)	K591*	probably null	Het
Zbtb9	T	A	17: 27,193,074 (GRCm39)	S160T	probably damaging	Het
Znfx1	T	A	2: 166,898,827 (GRCm39)	R32S	probably damaging	Het
Zng1	T	C	19: 24,930,684 (GRCm39)	M122V	possibly damaging	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
R0119:Or1e34	UTSW	11	73,778,656 (GRCm39)	missense	probably benign	0.11
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
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'- CTGTAGATGAAGGGGTTCAGCATGG -3'
(R):5'- TGGAGGTTGCCTGGCACAAATATTC -3'

Sequencing Primer
(F):5'- ATGGCAGACCCCTTTAGACTG -3'
(R):5'- CTGCATTACACTAGCATCATGAGTC -3'

Posted On

2013-07-30