Mutagenetix > Incidental Mutation

Incidental Mutation 'R5955:Or52w1'

471119

Institutional Source

Beutler Lab

Gene Symbol

Or52w1

Ensembl Gene

ENSMUSG00000073906

Gene Name

olfactory receptor family 52 subfamily W member 1

Synonyms

MOR36-1, GA_x6K02T2PBJ9-7994144-7995106, Olfr692

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R5955 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105017535-105018524 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 105017776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 72 (A72V)

Ref Sequence

ENSEMBL: ENSMUSP00000095755 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098152] [ENSMUST00000179474] [ENSMUST00000217827]

AlphaFold

Q8VF03

Predicted Effect

probably damaging
Transcript: ENSMUST00000098152
AA Change: A72V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095755
Gene: ENSMUSG00000073906
AA Change: A72V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	45	325	1.3e-90	PFAM
Pfam:7TM_GPCR_Srsx	49	233	1.3e-7	PFAM
Pfam:7tm_1	55	307	3.9e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179474

SMART Domains

Protein: ENSMUSP00000137163
Gene: ENSMUSG00000044465

Domain	Start	End	E-Value	Type
Pfam:RAI16-like	96	426	4.2e-98	PFAM
low complexity region	496	515	N/A	INTRINSIC
low complexity region	541	558	N/A	INTRINSIC
low complexity region	711	724	N/A	INTRINSIC
low complexity region	732	744	N/A	INTRINSIC
low complexity region	905	920	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211019
AA Change: A81V

Predicted Effect

probably damaging
Transcript: ENSMUST00000217827
AA Change: A81V

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.7%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	T	19: 43,801,629 (GRCm39)	D632V	probably damaging	Het
Acbd6	C	T	1: 155,463,205 (GRCm39)	A135V	probably benign	Het
Adam26a	A	T	8: 44,022,889 (GRCm39)	F200L	probably benign	Het
Ago3	A	T	4: 126,248,843 (GRCm39)	N569K	probably damaging	Het
Ak9	A	T	10: 41,234,560 (GRCm39)	L640F	probably damaging	Het
Ampd2	A	G	3: 107,987,088 (GRCm39)	V178A	probably damaging	Het
Anapc4	C	G	5: 53,023,288 (GRCm39)	H710D	probably benign	Het
Atad2	T	C	15: 57,969,055 (GRCm39)	I495V	probably benign	Het
Bhmt2	T	C	13: 93,799,705 (GRCm39)	T244A	probably benign	Het
Capg	T	C	6: 72,532,483 (GRCm39)	V16A	probably benign	Het
Capn13	A	G	17: 73,637,997 (GRCm39)	F469L	possibly damaging	Het
Ccdc149	C	T	5: 52,533,877 (GRCm39)	V430I	probably benign	Het
Cma1	A	C	14: 56,181,226 (GRCm39)	Y47D	probably benign	Het
Col6a3	A	T	1: 90,739,163 (GRCm39)	L355Q	probably damaging	Het
Cripto	C	A	9: 110,773,281 (GRCm39)	R18L	unknown	Het
Crocc	G	T	4: 140,745,229 (GRCm39)	T1796K	possibly damaging	Het
Cyp2c50	A	T	19: 40,079,387 (GRCm39)		probably null	Het
Dsp	T	C	13: 38,378,934 (GRCm39)	I1294T	possibly damaging	Het
Erbin	A	T	13: 103,966,700 (GRCm39)	F1250Y	probably benign	Het
Fbn1	A	C	2: 125,200,802 (GRCm39)	C1298W	probably damaging	Het
Fbn2	A	C	18: 58,177,328 (GRCm39)	F1990V	probably damaging	Het
Fez2	A	T	17: 78,694,472 (GRCm39)	V306D	probably damaging	Het
Gigyf1	G	A	5: 137,521,769 (GRCm39)		probably null	Het
Gjb4	A	T	4: 127,245,745 (GRCm39)	Y65*	probably null	Het
Gm26661	G	A	14: 7,791,776 (GRCm38)	A64T	unknown	Het
Igkv1-135	T	C	6: 67,587,263 (GRCm39)	S45P	possibly damaging	Het
Il27	T	C	7: 126,194,070 (GRCm39)	T5A	probably benign	Het
Il27ra	T	C	8: 84,767,451 (GRCm39)	D124G	probably benign	Het
Itgad	A	G	7: 127,788,653 (GRCm39)	H424R	probably benign	Het
Itgal	T	C	7: 126,904,161 (GRCm39)	V258A	possibly damaging	Het
Kpna4	A	G	3: 68,997,134 (GRCm39)	V351A	probably benign	Het
Lama5	T	C	2: 179,839,267 (GRCm39)	Q747R	probably damaging	Het
Map4k5	A	G	12: 69,891,164 (GRCm39)	F168L	probably damaging	Het
Mecom	A	G	3: 30,015,195 (GRCm39)	Y843H	probably damaging	Het
Mical3	T	C	6: 121,010,711 (GRCm39)	M424V	probably damaging	Het
Mtrfr	G	T	5: 124,478,837 (GRCm39)	E153*	probably null	Het
Myb	A	G	10: 21,028,398 (GRCm39)	I155T	probably damaging	Het
Nbea	A	T	3: 55,588,404 (GRCm39)	V2445E	probably benign	Het
Nlrp1b	A	T	11: 71,108,691 (GRCm39)	I270N	probably damaging	Het
Nlrp4f	A	T	13: 65,342,895 (GRCm39)	M250K	probably benign	Het
Or13c7	T	A	4: 43,854,898 (GRCm39)	N196K	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
P4ha1	A	G	10: 59,178,618 (GRCm39)	S96G	probably benign	Het
Pcnt	G	T	10: 76,247,456 (GRCm39)	N1025K	possibly damaging	Het
Pgap4	T	C	4: 49,586,613 (GRCm39)	E185G	probably damaging	Het
Phactr4	A	G	4: 132,114,220 (GRCm39)	F58S	probably damaging	Het
Phlpp1	T	A	1: 106,291,960 (GRCm39)		probably null	Het
Rab40c	A	C	17: 26,103,631 (GRCm39)	V144G	probably damaging	Het
Rnasel	A	G	1: 153,630,146 (GRCm39)	I221V	probably benign	Het
Rps6kb1	T	C	11: 86,404,431 (GRCm39)	K241E	probably damaging	Het
Rrbp1	C	G	2: 143,791,597 (GRCm39)	E1370Q	probably benign	Het
Rttn	T	C	18: 89,139,133 (GRCm39)	Y2111H	probably damaging	Het
Samd8	A	G	14: 21,843,152 (GRCm39)	H364R	probably damaging	Het
Scnm1	T	C	3: 95,037,596 (GRCm39)	I157V	probably benign	Het
Setdb1	A	G	3: 95,246,153 (GRCm39)	Y590H	probably damaging	Het
Shkbp1	T	C	7: 27,041,949 (GRCm39)	N635S	probably benign	Het
Trpm6	A	G	19: 18,869,383 (GRCm39)	D1990G	possibly damaging	Het
Usp48	A	G	4: 137,343,129 (GRCm39)	N426S	probably benign	Het
Vmn2r16	G	A	5: 109,511,613 (GRCm39)	V607M	possibly damaging	Het
Xdh	A	T	17: 74,205,315 (GRCm39)	V1050D	probably damaging	Het
Zfp110	C	T	7: 12,582,672 (GRCm39)	T440I	possibly damaging	Het

Other mutations in Or52w1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00927:Or52w1	APN	7	105,018,454 (GRCm39)	missense	probably damaging	1.00
IGL01772:Or52w1	APN	7	105,017,641 (GRCm39)	missense	probably benign	0.03
IGL02508:Or52w1	APN	7	105,017,743 (GRCm39)	missense	possibly damaging	0.95
IGL03103:Or52w1	APN	7	105,017,785 (GRCm39)	missense	probably damaging	1.00
R1147:Or52w1	UTSW	7	105,018,484 (GRCm39)	missense	probably benign	0.14
R1147:Or52w1	UTSW	7	105,018,484 (GRCm39)	missense	probably benign	0.14
R5237:Or52w1	UTSW	7	105,018,513 (GRCm39)	nonsense	probably null
R5294:Or52w1	UTSW	7	105,017,620 (GRCm39)	missense	probably benign	0.41
R6321:Or52w1	UTSW	7	105,018,109 (GRCm39)	missense	probably damaging	1.00
R7171:Or52w1	UTSW	7	105,017,968 (GRCm39)	missense	probably benign	0.02
R7284:Or52w1	UTSW	7	105,017,752 (GRCm39)	missense	probably damaging	0.98
R8376:Or52w1	UTSW	7	105,017,847 (GRCm39)	missense	probably benign	0.33
R8516:Or52w1	UTSW	7	105,017,976 (GRCm39)	missense	probably benign	0.00
R9054:Or52w1	UTSW	7	105,017,680 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTTCGCAGTCCAATTCTACC -3'
(R):5'- CCACACGGGCTTTAGTTACC -3'

Sequencing Primer
(F):5'- GCAGTCCAATTCTACCTTCCAAC -3'
(R):5'- CACACGGGCTTTAGTTACCAAGATAG -3'

Posted On

2017-03-31