Mutagenetix > Incidental Mutation

Incidental Mutation 'R7702:Or1e19'

628397

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

045763-MU

Accession Numbers

Essential gene?

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

Stock #

R7702 (G1)

Quality Score

161.009

Status

Validated

Chromosome

Chromosomal Location

73315863-73319303 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 73324175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000066971 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069790] [ENSMUST00000117349]

AlphaFold

Q8VGT2

Predicted Effect

probably benign
Transcript: ENSMUST00000069790

SMART Domains

Protein: ENSMUSP00000066971
Gene: ENSMUSG00000055971

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

Predicted Effect

unknown
Transcript: ENSMUST00000117349
AA Change: E292D

SMART Domains

Protein: ENSMUSP00000113524
Gene: ENSMUSG00000084387
AA Change: E292D

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	35	297	7.9e-6	PFAM
Pfam:7tm_1	41	290	3.3e-34	PFAM
Pfam:7tm_4	139	283	2.8e-40	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (61/61)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	G	11: 110,167,278 (GRCm39)		probably null	Het
AU040320	T	A	4: 126,708,166 (GRCm39)	S261T	probably benign	Het
Banp	T	A	8: 122,705,326 (GRCm39)	C65*	probably null	Het
Bloc1s5	T	C	13: 38,787,850 (GRCm39)	D178G	probably benign	Het
Cacna1c	A	G	6: 118,575,727 (GRCm39)	F1941L		Het
Ccdc121rt3	T	C	5: 112,503,063 (GRCm39)	K214E	probably benign	Het
Cd48	A	G	1: 171,523,348 (GRCm39)	I64V	probably damaging	Het
Cela3a	A	G	4: 137,135,501 (GRCm39)	S21P	probably benign	Het
Cidec	A	G	6: 113,411,415 (GRCm39)	Y12H	possibly damaging	Het
Col12a1	C	G	9: 79,588,803 (GRCm39)	R1104T	probably damaging	Het
Ctsf	T	G	19: 4,906,567 (GRCm39)	F165V	probably damaging	Het
Cux2	T	C	5: 122,006,648 (GRCm39)	D874G	possibly damaging	Het
Dbnl	C	T	11: 5,748,048 (GRCm39)	L298F	probably benign	Het
Dnah1	C	A	14: 31,032,866 (GRCm39)	V390F	probably benign	Het
Dnah17	T	C	11: 118,012,304 (GRCm39)	D486G	possibly damaging	Het
Dnah17	T	C	11: 117,916,466 (GRCm39)	I4236V	probably benign	Het
Dpp6	T	A	5: 27,857,274 (GRCm39)	D406E	probably benign	Het
Dsp	C	T	13: 38,359,183 (GRCm39)	A318V	possibly damaging	Het
Duox1	T	C	2: 122,160,120 (GRCm39)	L745P	possibly damaging	Het
Ell	C	A	8: 70,992,364 (GRCm39)	A3E	possibly damaging	Het
Fer1l5	T	A	1: 36,459,775 (GRCm39)	L1832*	probably null	Het
Filip1	G	T	9: 79,727,931 (GRCm39)	N229K	probably benign	Het
Flg	A	T	3: 93,200,089 (GRCm39)	H195L	unknown	Het
Fndc7	G	T	3: 108,770,129 (GRCm39)	P685H	probably damaging	Het
Ggt1	A	G	10: 75,412,116 (GRCm39)	N120S	probably benign	Het
Gm4952	A	T	19: 12,604,428 (GRCm39)	H280L	probably benign	Het
Golim4	A	T	3: 75,794,091 (GRCm39)	D551E	probably damaging	Het
H3c13	C	A	3: 96,176,309 (GRCm39)	Y100*	probably null	Het
Hmbs	A	C	9: 44,248,147 (GRCm39)		probably null	Het
Ino80	T	C	2: 119,273,054 (GRCm39)	D474G	probably benign	Het
Ipo4	A	C	14: 55,869,787 (GRCm39)	H343Q	probably damaging	Het
Jade2	C	T	11: 51,707,744 (GRCm39)	R823H	probably damaging	Het
Jakmip1	C	T	5: 37,274,841 (GRCm39)	T453I	probably damaging	Het
Klk6	T	C	7: 43,478,689 (GRCm39)	S199P	probably damaging	Het
Ltn1	A	T	16: 87,223,166 (GRCm39)	Y105N	probably damaging	Het
Map3k19	G	T	1: 127,756,827 (GRCm39)	T394N	probably damaging	Het
Megf6	G	A	4: 154,354,927 (GRCm39)	D1445N	probably benign	Het
Mmp21	A	G	7: 133,280,791 (GRCm39)	Y60H	probably damaging	Het
Mylk4	C	T	13: 32,904,585 (GRCm39)		probably null	Het
Nckipsd	A	T	9: 108,691,216 (GRCm39)	R38*	probably null	Het
Nob1	G	A	8: 108,139,737 (GRCm39)	R341*	probably null	Het
Or11g25	A	G	14: 50,723,751 (GRCm39)	T279A	possibly damaging	Het
Or5ac22	A	G	16: 59,134,997 (GRCm39)	Y258H	probably damaging	Het
Pcdh1	A	G	18: 38,336,569 (GRCm39)	L22P	unknown	Het
Pebp4	T	A	14: 70,297,056 (GRCm39)	N198K	probably benign	Het
Pkp4	T	C	2: 59,138,757 (GRCm39)	S336P	probably damaging	Het
Prr5l	T	A	2: 101,547,442 (GRCm39)	D361V	probably benign	Het
Ralgapa1	C	G	12: 55,756,340 (GRCm39)	V1086L	probably damaging	Het
Ralgapa1	T	A	12: 55,756,341 (GRCm39)	Q1085H	probably damaging	Het
Ryr2	T	C	13: 11,705,219 (GRCm39)	N2849S	probably damaging	Het
Slc6a18	A	T	13: 73,820,915 (GRCm39)	L223H	probably damaging	Het
Sqstm1	T	G	11: 50,096,932 (GRCm39)		probably null	Het
Syne1	T	C	10: 5,195,835 (GRCm39)	E3945G	probably damaging	Het
Syne2	A	G	12: 76,037,161 (GRCm39)	Y3780C	probably benign	Het
Tecpr1	A	G	5: 144,140,236 (GRCm39)	Y840H	probably damaging	Het
Tmem183a	T	C	1: 134,288,539 (GRCm39)	Q108R	probably benign	Het
Tmtc1	A	T	6: 148,345,415 (GRCm39)	C95S	probably benign	Het
Trappc8	C	T	18: 20,958,119 (GRCm39)	V1250I	probably damaging	Het
Tshz1	A	G	18: 84,032,461 (GRCm39)	V649A	probably damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Vmn1r123	A	C	7: 20,896,302 (GRCm39)	T65P	probably damaging	Het
Vmn2r63	A	T	7: 42,577,553 (GRCm39)	H328Q	possibly damaging	Het
Zeb1	T	C	18: 5,766,802 (GRCm39)	S438P	probably damaging	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
R0443:Or1e19	UTSW	11	73,316,581 (GRCm39)	missense	probably damaging	1.00
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
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'- AATCACATGTGCAAAACTCCTG -3'
(R):5'- AGGACTCACTATGGTCATCCC -3'

Sequencing Primer
(F):5'- GCAAAACTCCTGTTTGAAAATAGCAG -3'
(R):5'- GGGTTATACAAAAGATTTTCTCCACC -3'

Posted On

2020-03-19