Mutagenetix > Incidental Mutation

Incidental Mutation 'R0443:Or1e19'

39283

Institutional Source

Beutler Lab

Gene Symbol

Or1e19

Ensembl Gene

ENSMUSG00000055971

Gene Name

olfactory receptor family 1 subfamily E member 19

Synonyms

MOR135-2, GA_x6K02T2P1NL-3586282-3585338, Olfr378

MMRRC Submission

038644-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.292) question?

Stock #

R0443 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

73315863-73319303 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73316581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 76 (V76A)

Ref Sequence

ENSEMBL: ENSMUSP00000066971 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069790]

AlphaFold

Q8VGT2

Predicted Effect

probably damaging
Transcript: ENSMUST00000069790
AA Change: V76A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000066971
Gene: ENSMUSG00000055971
AA Change: V76A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	4.3e-55	PFAM
Pfam:7TM_GPCR_Srsx	35	297	7.9e-6	PFAM
Pfam:7tm_1	41	290	3.8e-25	PFAM

Meta Mutation Damage Score

0.3386

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.3%
20x: 95.6%

Validation Efficiency

96% (52/54)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3b	G	T	5: 26,053,409 (GRCm39)	R246L	probably damaging	Het
Adam18	T	C	8: 25,119,653 (GRCm39)		probably null	Het
Ankhd1	A	G	18: 36,777,652 (GRCm39)	S1612G	possibly damaging	Het
Caskin1	C	T	17: 24,724,374 (GRCm39)	A1054V	probably damaging	Het
Casz1	T	C	4: 149,033,368 (GRCm39)	V1380A	possibly damaging	Het
Ccn2	T	C	10: 24,471,701 (GRCm39)		probably benign	Het
Cnot6l	T	G	5: 96,239,604 (GRCm39)		probably benign	Het
Crat	T	C	2: 30,293,640 (GRCm39)		probably benign	Het
Cux2	C	T	5: 122,025,500 (GRCm39)	R56H	possibly damaging	Het
Dst	A	G	1: 34,333,631 (GRCm39)		probably null	Het
Dync2h1	G	T	9: 7,167,244 (GRCm39)		probably null	Het
Epg5	T	C	18: 77,999,118 (GRCm39)		probably benign	Het
Ergic3	G	A	2: 155,858,707 (GRCm39)	V278M	probably benign	Het
Fam20b	A	T	1: 156,509,023 (GRCm39)	D396E	probably benign	Het
Gapvd1	A	G	2: 34,594,633 (GRCm39)		probably benign	Het
Golga1	A	T	2: 38,908,453 (GRCm39)	S749T	probably damaging	Het
Gsdma2	C	T	11: 98,548,514 (GRCm39)	T255I	probably damaging	Het
Itga1	T	A	13: 115,128,996 (GRCm39)	D554V	probably benign	Het
Itgam	C	T	7: 127,680,806 (GRCm39)	A245V	probably damaging	Het
Kcnk15	A	G	2: 163,700,243 (GRCm39)	T161A	probably benign	Het
Map3k19	A	T	1: 127,750,152 (GRCm39)	N1066K	probably benign	Het
Ms4a6b	A	G	19: 11,499,044 (GRCm39)	I53V	possibly damaging	Het
Mtf1	C	T	4: 124,718,075 (GRCm39)		probably benign	Het
Neb	T	C	2: 52,051,489 (GRCm39)		probably null	Het
Nop9	A	G	14: 55,991,205 (GRCm39)	S621G	probably benign	Het
Or5p60	A	G	7: 107,724,023 (GRCm39)	V149A	probably benign	Het
Or9a2	T	A	6: 41,748,829 (GRCm39)	I135F	possibly damaging	Het
Pacs1	A	T	19: 5,322,611 (GRCm39)	Y102*	probably null	Het
Pcdhb10	A	C	18: 37,545,485 (GRCm39)	D187A	probably damaging	Het
Pih1d2	A	G	9: 50,532,403 (GRCm39)	R170G	possibly damaging	Het
Pikfyve	A	G	1: 65,235,865 (GRCm39)	H179R	probably damaging	Het
Pknox1	A	G	17: 31,811,193 (GRCm39)	S156G	probably damaging	Het
Prkcz	T	A	4: 155,353,597 (GRCm39)	D250V	probably damaging	Het
Psg16	T	A	7: 16,829,088 (GRCm39)	I224N	probably benign	Het
Ro60	A	G	1: 143,641,661 (GRCm39)		probably benign	Het
Slc25a40	T	A	5: 8,497,348 (GRCm39)	S229T	probably benign	Het
Slc43a2	T	C	11: 75,435,493 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Tas2r129	G	T	6: 132,928,159 (GRCm39)	C32F	probably benign	Het
Tfap2d	C	T	1: 19,174,591 (GRCm39)	R15C	possibly damaging	Het
Tonsl	T	C	15: 76,523,884 (GRCm39)	S39G	probably benign	Het
Trpc2	A	G	7: 101,742,727 (GRCm39)		probably benign	Het
Ttc17	A	G	2: 94,208,439 (GRCm39)	F144S	probably benign	Het
Twnk	G	T	19: 44,996,578 (GRCm39)	G337V	possibly damaging	Het
Uvssa	A	G	5: 33,546,168 (GRCm39)	R180G	possibly damaging	Het
Vmn1r197	T	A	13: 22,512,241 (GRCm39)	I54K	possibly damaging	Het
Vmn1r71	G	A	7: 10,482,238 (GRCm39)	T84I	probably benign	Het
Zbtb49	T	C	5: 38,358,174 (GRCm39)	E693G	probably benign	Het

Other mutations in Or1e19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01996:Or1e19	APN	11	73,316,794 (GRCm39)	missense	probably damaging	1.00
IGL02427:Or1e19	APN	11	73,316,487 (GRCm39)	missense	probably damaging	1.00
IGL03089:Or1e19	APN	11	73,316,009 (GRCm39)	missense	probably benign
R1497:Or1e19	UTSW	11	73,316,653 (GRCm39)	missense	possibly damaging	0.88
R2005:Or1e19	UTSW	11	73,316,065 (GRCm39)	missense	probably damaging	1.00
R2029:Or1e19	UTSW	11	73,316,188 (GRCm39)	missense	probably benign	0.00
R2140:Or1e19	UTSW	11	73,316,707 (GRCm39)	missense	probably damaging	0.98
R3551:Or1e19	UTSW	11	73,316,678 (GRCm39)	missense	probably benign	0.00
R3552:Or1e19	UTSW	11	73,316,678 (GRCm39)	missense	probably benign	0.00
R4433:Or1e19	UTSW	11	73,316,537 (GRCm39)	missense	possibly damaging	0.50
R4546:Or1e19	UTSW	11	73,316,012 (GRCm39)	missense	probably benign	0.23
R4686:Or1e19	UTSW	11	73,316,264 (GRCm39)	missense	probably benign	0.35
R5168:Or1e19	UTSW	11	73,316,669 (GRCm39)	missense	probably benign	0.01
R5567:Or1e19	UTSW	11	73,316,272 (GRCm39)	missense	probably damaging	1.00
R5755:Or1e19	UTSW	11	73,316,557 (GRCm39)	missense	probably benign	0.22
R7190:Or1e19	UTSW	11	73,315,990 (GRCm39)	missense	probably benign	0.07
R7287:Or1e19	UTSW	11	73,316,669 (GRCm39)	missense	probably benign	0.01
R7404:Or1e19	UTSW	11	73,316,419 (GRCm39)	missense	probably damaging	1.00
R7462:Or1e19	UTSW	11	73,316,296 (GRCm39)	missense	probably benign	0.06
R7544:Or1e19	UTSW	11	73,316,596 (GRCm39)	missense	probably damaging	1.00
R7702:Or1e19	UTSW	11	73,324,175 (GRCm39)	unclassified	probably benign
R8408:Or1e19	UTSW	11	73,316,794 (GRCm39)	missense	probably damaging	1.00
R8977:Or1e19	UTSW	11	73,316,651 (GRCm39)	missense	probably benign	0.02
X0010:Or1e19	UTSW	11	73,315,977 (GRCm39)	missense	possibly damaging	0.59
Z1088:Or1e19	UTSW	11	73,315,931 (GRCm39)	splice site	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCATGGGTGTCAGAACAAGCCAC -3'
(R):5'- AGCAACTGTACTATGCCCTGCTCC -3'

Sequencing Primer
(F):5'- GTCTTCACAGAATGACAATCTGGC -3'
(R):5'- CTGTCCATGTATCTCACCACTG -3'

Posted On

2013-05-23