Mutagenetix > Incidental Mutation

Incidental Mutation 'R6263:Or52e19b'

506824

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

044437-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R6263 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103032269-103033207 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 103032403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 269 (V269F)

Ref Sequence

ENSEMBL: ENSMUSP00000151321 (fasta)

Gene Model

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

AlphaFold

L7N1Y4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071844
AA Change: V269F

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000071744
Gene: ENSMUSG00000059874
AA Change: V269F

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

possibly damaging
Transcript: ENSMUST00000218246
AA Change: V269F

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

97% (66/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,995,641 (GRCm39)	I5642V	probably benign	Het
Atp5f1a	A	G	18: 77,866,930 (GRCm39)		probably null	Het
Bltp1	T	A	3: 36,985,260 (GRCm39)	N863K	probably benign	Het
Bsn	A	T	9: 107,990,453 (GRCm39)	F1766L	probably damaging	Het
Ccdc141	T	C	2: 76,938,807 (GRCm39)	Q266R	probably damaging	Het
Cdh10	T	A	15: 18,964,154 (GRCm39)	D105E	possibly damaging	Het
Clca3a1	T	A	3: 144,455,539 (GRCm39)	D418V	probably damaging	Het
Cnnm2	C	A	19: 46,845,344 (GRCm39)	T612K	probably benign	Het
Col3a1	T	C	1: 45,360,735 (GRCm39)	V55A	unknown	Het
Cpd	A	C	11: 76,737,097 (GRCm39)	D232E	probably benign	Het
Csde1	A	G	3: 102,947,333 (GRCm39)	H95R	probably benign	Het
Ctcfl	T	A	2: 172,937,130 (GRCm39)	H596L	probably benign	Het
Cwc22	T	C	2: 77,726,515 (GRCm39)	R855G	possibly damaging	Het
Cwc25	A	G	11: 97,644,053 (GRCm39)	Y227H	probably damaging	Het
Cyp2c38	G	A	19: 39,380,659 (GRCm39)	P409S	probably damaging	Het
Ddx5	A	G	11: 106,679,139 (GRCm39)	S2P	possibly damaging	Het
Dnah2	C	A	11: 69,348,238 (GRCm39)	G2570W	probably damaging	Het
Dnajc10	T	A	2: 80,174,292 (GRCm39)	V528E	probably damaging	Het
Efcab3	G	A	11: 104,810,312 (GRCm39)	D3150N	unknown	Het
Fmo1	A	G	1: 162,677,629 (GRCm39)		probably null	Het
Gpatch1	C	A	7: 35,002,848 (GRCm39)	D221Y	probably damaging	Het
Ino80	T	C	2: 119,213,895 (GRCm39)	Y1225C	probably damaging	Het
Itga7	T	A	10: 128,779,955 (GRCm39)	D501E	probably benign	Het
Lgr4	T	C	2: 109,842,243 (GRCm39)	S743P	possibly damaging	Het
Lilra5	A	T	7: 4,241,360 (GRCm39)	Y99F	probably damaging	Het
Lmna	A	G	3: 88,410,265 (GRCm39)	V49A	probably damaging	Het
Lrrc72	G	A	12: 36,258,603 (GRCm39)	R267*	probably null	Het
Mapkbp1	T	C	2: 119,853,772 (GRCm39)	S1199P	probably damaging	Het
Mmp25	G	A	17: 23,849,768 (GRCm39)	A541V	possibly damaging	Het
Myh10	A	T	11: 68,701,058 (GRCm39)	N1756Y	probably damaging	Het
Nfe2	A	G	15: 103,159,378 (GRCm39)	I31T	probably damaging	Het
Nfe2l1	A	T	11: 96,708,570 (GRCm39)	F732I	probably benign	Het
Or4a39	C	G	2: 89,237,074 (GRCm39)	M116I	possibly damaging	Het
Or4c12b	T	A	2: 89,647,104 (GRCm39)	C145S	probably damaging	Het
Pax6	T	C	2: 105,523,199 (GRCm39)		probably null	Het
Phb1	A	G	11: 95,568,941 (GRCm39)	E192G	probably damaging	Het
Plekhn1	A	T	4: 156,309,650 (GRCm39)		probably null	Het
Plxnb2	A	T	15: 89,046,189 (GRCm39)	V942E	probably damaging	Het
Potegl	T	A	2: 23,156,745 (GRCm39)		probably benign	Het
Rsrc2	G	A	5: 123,877,751 (GRCm39)		probably benign	Het
Septin8	G	A	11: 53,439,210 (GRCm39)	C460Y	probably benign	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc16a7	A	G	10: 125,130,508 (GRCm39)	I59T	probably benign	Het
Slc35d1	A	T	4: 103,065,365 (GRCm39)	I172N	possibly damaging	Het
Smg5	A	T	3: 88,249,208 (GRCm39)	N40Y	possibly damaging	Het
Smurf1	A	G	5: 144,818,541 (GRCm39)	V633A	probably damaging	Het
Snx9	T	C	17: 5,937,324 (GRCm39)	V22A	probably damaging	Het
Sox6	A	T	7: 115,076,295 (GRCm39)	M741K	probably damaging	Het
Spata31d1d	T	C	13: 59,873,797 (GRCm39)	Q1246R	probably benign	Het
Sval1	A	G	6: 41,928,660 (GRCm39)	E24G	probably damaging	Het
Tas2r124	A	G	6: 132,731,867 (GRCm39)	I59V	probably benign	Het
Tmem151b	T	A	17: 45,857,992 (GRCm39)	T85S	probably benign	Het
Tpr	T	A	1: 150,317,996 (GRCm39)		probably null	Het
Trpm6	A	C	19: 18,831,472 (GRCm39)	T1446P	possibly damaging	Het
Tsc22d4	A	T	5: 137,766,441 (GRCm39)	K502N	possibly damaging	Het
Tssk3	C	T	4: 129,383,051 (GRCm39)	S207N	probably benign	Het
Ttbk1	G	T	17: 46,778,188 (GRCm39)	P618Q	probably damaging	Het
Ttll6	A	T	11: 96,047,371 (GRCm39)	M657L	probably benign	Het
Ubash3a	T	A	17: 31,434,069 (GRCm39)	I138N	probably benign	Het
Ush2a	A	G	1: 188,090,839 (GRCm39)	Y490C	probably damaging	Het
Vmn1r82	G	T	7: 12,039,461 (GRCm39)	V127F	probably damaging	Het
Vmn2r32	A	T	7: 7,479,691 (GRCm39)	S161T	possibly damaging	Het
Wdr49	T	C	3: 75,388,824 (GRCm39)	I58M	possibly damaging	Het
Wiz	A	T	17: 32,579,417 (GRCm39)		probably null	Het
Wrap53	A	T	11: 69,453,619 (GRCm39)	Y324*	probably null	Het
Zfp747	A	C	7: 126,975,138 (GRCm39)		probably benign	Het
Zfp827	A	G	8: 79,905,702 (GRCm39)	Y33C	probably damaging	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
R5116:Or52e19b	UTSW	7	103,033,071 (GRCm39)	missense	probably benign	0.03
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'- GCCTGACAGCATTTATGATCC -3'
(R):5'- GATAGCACGTCTAGCCTGTG -3'

Sequencing Primer
(F):5'- CTGACAGCATTTATGATCCTCTGATG -3'
(R):5'- GCCTGTGCTAACATAAGGATAAAC -3'

Posted On

2018-03-15