Mutagenetix > Incidental Mutation

Incidental Mutation 'R5116:Or52e19b'

394193

Institutional Source

Beutler Lab

Gene Symbol

Or52e19b

Ensembl Gene

ENSMUSG00000059874

Gene Name

olfactory receptor family 52 subfamily E member 19B

Synonyms

MOR32-2, GA_x6K02T2PBJ9-6092550-6092362, GA_x6K02T2PBJ9-6096387-6095449, Olfr604, Olfr603, MOR32-14_i

MMRRC Submission

042704-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R5116 (G1)

Quality Score

174

Status

Validated

Chromosome

Chromosomal Location

103032269-103033207 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 103033071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 46 (T46I)

Ref Sequence

ENSEMBL: ENSMUSP00000151321 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071844] [ENSMUST00000218246]

AlphaFold

L7N1Y4

Predicted Effect

probably benign
Transcript: ENSMUST00000071844
AA Change: T46I

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000071744
Gene: ENSMUSG00000059874
AA Change: T46I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	1.7e-120	PFAM
Pfam:7TM_GPCR_Srsx	37	210	1.9e-10	PFAM
Pfam:7tm_1	43	293	5.4e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000218246
AA Change: T46I

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Meta Mutation Damage Score

0.0849

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.5%

Validation Efficiency

97% (59/61)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,216,930 (GRCm39)	H429R	probably damaging	Het
Adam39	G	T	8: 41,278,038 (GRCm39)	C143F	probably damaging	Het
Adamts19	T	C	18: 59,036,066 (GRCm39)	V417A	possibly damaging	Het
Adcy10	C	A	1: 165,347,069 (GRCm39)	A362E	probably damaging	Het
Akap6	A	G	12: 53,188,298 (GRCm39)	E1904G	probably benign	Het
Aldh18a1	A	G	19: 40,541,949 (GRCm39)	M89T	probably benign	Het
Alyref	G	T	11: 120,488,554 (GRCm39)	F91L	probably benign	Het
Capn3	G	T	2: 120,315,773 (GRCm39)	M248I	probably benign	Het
Catsper4	A	T	4: 133,953,991 (GRCm39)	I56N	probably damaging	Het
Cckbr	T	A	7: 105,082,862 (GRCm39)	I75N	probably damaging	Het
Ccr8	T	C	9: 119,923,095 (GRCm39)	I70T	probably benign	Het
Cdh24	T	C	14: 54,873,870 (GRCm39)	D428G	probably benign	Het
Cdk5rap2	G	T	4: 70,225,475 (GRCm39)	Q557K	possibly damaging	Het
Clip1	C	T	5: 123,768,770 (GRCm39)	A610T	probably benign	Het
Dnajc16	A	T	4: 141,495,280 (GRCm39)	Y479*	probably null	Het
Fpr-rs3	A	G	17: 20,844,562 (GRCm39)	V193A	probably benign	Het
Gm29125	T	C	1: 80,361,690 (GRCm39)		noncoding transcript	Het
H1f4	A	G	13: 23,806,270 (GRCm39)	Y71H	probably damaging	Het
Ifi208	A	G	1: 173,505,549 (GRCm39)		probably benign	Het
Immp1l	G	A	2: 105,795,640 (GRCm39)	R155H	probably benign	Het
Itgad	C	A	7: 127,803,065 (GRCm39)	T7K	probably damaging	Het
Itgb3	T	C	11: 104,531,903 (GRCm39)	V370A	probably benign	Het
Jak1	A	G	4: 101,012,310 (GRCm39)	I1053T	probably benign	Het
Kif21b	A	G	1: 136,080,521 (GRCm39)	R572G	probably damaging	Het
Lama2	A	T	10: 26,994,556 (GRCm39)	D1784E	probably benign	Het
Ltbp2	A	T	12: 84,856,511 (GRCm39)	V651D	probably damaging	Het
Mrpl47	A	G	3: 32,787,750 (GRCm39)	L100S	probably damaging	Het
Mx1	T	G	16: 97,258,679 (GRCm39)	N6T	possibly damaging	Het
Nde1	T	A	16: 14,001,351 (GRCm39)	M133K	probably benign	Het
Nlrc5	T	C	8: 95,208,488 (GRCm39)	L778P	probably damaging	Het
Odad3	A	G	9: 21,901,424 (GRCm39)	*595Q	probably null	Het
Or5l13	G	A	2: 87,779,873 (GRCm39)	R235C	probably benign	Het
Or6c3b	A	G	10: 129,527,266 (GRCm39)	S215P	probably damaging	Het
Or7g32	A	G	9: 19,389,094 (GRCm39)	S151P	possibly damaging	Het
Or8b38	T	C	9: 37,972,634 (GRCm39)	V6A	probably benign	Het
Otog	T	C	7: 45,923,191 (GRCm39)	V1022A	probably benign	Het
Pcdhac1	G	A	18: 37,224,500 (GRCm39)	V438M	probably damaging	Het
Pcsk5	G	A	19: 17,440,798 (GRCm39)	S1264F	possibly damaging	Het
Pfas	T	C	11: 68,881,816 (GRCm39)		probably benign	Het
Pigr	T	A	1: 130,776,768 (GRCm39)	F648I	probably benign	Het
Pla2r1	A	C	2: 60,279,250 (GRCm39)	Y777D	probably damaging	Het
Pnpla7	G	T	2: 24,911,982 (GRCm39)	G716V	probably damaging	Het
Rab11fip5	C	T	6: 85,325,789 (GRCm39)	E206K	probably damaging	Het
S100a10	A	G	3: 93,468,247 (GRCm39)		probably null	Het
Slc35f1	T	C	10: 52,897,991 (GRCm39)	I134T	probably benign	Het
Smarcd1	C	T	15: 99,600,369 (GRCm39)	A56V	probably benign	Het
Snrk	A	G	9: 121,989,396 (GRCm39)	T247A	probably benign	Het
Srgap1	A	G	10: 121,628,284 (GRCm39)	L896P	possibly damaging	Het
Tmem19	A	T	10: 115,179,651 (GRCm39)	F167I	probably benign	Het
Tmprss11f	T	C	5: 86,687,555 (GRCm39)	S118G	probably benign	Het
Tnc	A	G	4: 63,885,452 (GRCm39)		probably null	Het
Trem3	T	C	17: 48,556,580 (GRCm39)	L17P	probably benign	Het
Upp2	A	G	2: 58,661,554 (GRCm39)	Y67C	probably damaging	Het
Zfp276	A	G	8: 123,991,716 (GRCm39)		probably benign	Het
Zfp932	T	A	5: 110,157,242 (GRCm39)	D280E	probably benign	Het

Other mutations in Or52e19b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00820:Or52e19b	APN	7	103,032,672 (GRCm39)	missense	probably damaging	0.98
IGL01582:Or52e19b	APN	7	103,032,806 (GRCm39)	nonsense	probably null
IGL01788:Or52e19b	APN	7	103,032,770 (GRCm39)	missense	probably benign	0.00
IGL02837:Or52e19b	UTSW	7	103,032,822 (GRCm39)	missense	probably damaging	1.00
R1807:Or52e19b	UTSW	7	103,032,790 (GRCm39)	missense	probably benign	0.25
R2097:Or52e19b	UTSW	7	103,032,840 (GRCm39)	missense	probably damaging	1.00
R2161:Or52e19b	UTSW	7	103,032,407 (GRCm39)	missense	probably benign	0.01
R4870:Or52e19b	UTSW	7	103,032,840 (GRCm39)	missense	probably damaging	1.00
R6263:Or52e19b	UTSW	7	103,032,403 (GRCm39)	missense	possibly damaging	0.88
R6385:Or52e19b	UTSW	7	103,033,104 (GRCm39)	missense	possibly damaging	0.61
R6980:Or52e19b	UTSW	7	103,032,303 (GRCm39)	missense	probably benign	0.01
R7474:Or52e19b	UTSW	7	103,032,969 (GRCm39)	missense	probably damaging	0.99
R7754:Or52e19b	UTSW	7	103,032,945 (GRCm39)	missense	probably damaging	1.00
R7842:Or52e19b	UTSW	7	103,032,783 (GRCm39)	missense	probably benign	0.00
R7947:Or52e19b	UTSW	7	103,032,735 (GRCm39)	missense	possibly damaging	0.95
R7980:Or52e19b	UTSW	7	103,032,970 (GRCm39)	missense	probably damaging	0.99
R8176:Or52e19b	UTSW	7	103,033,071 (GRCm39)	missense	probably benign	0.03
R8523:Or52e19b	UTSW	7	103,032,413 (GRCm39)	missense	probably benign	0.31
R8817:Or52e19b	UTSW	7	103,032,825 (GRCm39)	missense	probably damaging	1.00
R8845:Or52e19b	UTSW	7	103,032,357 (GRCm39)	missense	probably damaging	0.98
R8968:Or52e19b	UTSW	7	103,032,667 (GRCm39)	missense	probably damaging	1.00
R9398:Or52e19b	UTSW	7	103,032,487 (GRCm39)	missense	probably damaging	0.97
R9770:Or52e19b	UTSW	7	103,032,613 (GRCm39)	missense	probably damaging	0.99
Z1177:Or52e19b	UTSW	7	103,033,009 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TCAATTGCCATGGCCAGGAG -3'
(R):5'- ATTGCAGATAGTCCTCCAGGAG -3'

Sequencing Primer
(F):5'- GAGTACAACAGATTCCATGCCTGTG -3'
(R):5'- ATAGTCCTCCAGGAGTCTGAG -3'

Posted On

2016-06-15