Mutagenetix > Incidental Mutation

Incidental Mutation 'R5237:Or52w1'

398525

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

MMRRC Submission

042808-MU

Accession Numbers

Essential gene?

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

Stock #

R5237 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105017535-105018524 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 105018513 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 327 (K327*)

Ref Sequence

ENSEMBL: ENSMUSP00000151295 (fasta)

Gene Model

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

AlphaFold

Q8VF03

Predicted Effect

probably null
Transcript: ENSMUST00000098152
AA Change: K318*

SMART Domains

Protein: ENSMUSP00000095755
Gene: ENSMUSG00000073906
AA Change: K318*

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: K327*

Predicted Effect

probably null
Transcript: ENSMUST00000217827
AA Change: K327*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

100% (76/76)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	G	A	4: 144,349,850 (GRCm39)	W369*	probably null	Het
Adamts3	A	T	5: 89,923,236 (GRCm39)	M190K	probably benign	Het
Adamtsl1	T	C	4: 86,303,906 (GRCm39)		probably null	Het
Adcy1	A	T	11: 7,099,553 (GRCm39)	I678L	probably benign	Het
Agtrap	A	G	4: 148,166,817 (GRCm39)	S27P	probably benign	Het
Ankrd24	C	A	10: 81,478,379 (GRCm39)		probably benign	Het
Atg2a	G	T	19: 6,296,844 (GRCm39)	V383L	probably benign	Het
Ccdc40	T	C	11: 119,150,802 (GRCm39)	V1105A	probably benign	Het
Cenpf	A	T	1: 189,391,730 (GRCm39)	S684T	probably benign	Het
Cog7	A	G	7: 121,550,444 (GRCm39)	L360P	probably damaging	Het
Col12a1	T	A	9: 79,607,544 (GRCm39)	Q428L	probably benign	Het
Col4a1	G	A	8: 11,295,068 (GRCm39)		probably benign	Het
Cpeb2	G	A	5: 43,443,099 (GRCm39)	C930Y	probably damaging	Het
Cul9	T	C	17: 46,854,393 (GRCm39)	D103G	probably benign	Het
Cyb5a	T	G	18: 84,889,689 (GRCm39)	F39L	probably damaging	Het
Cyp2d12	T	A	15: 82,442,207 (GRCm39)		probably null	Het
Dnah7a	A	C	1: 53,486,690 (GRCm39)		probably null	Het
Efcab9	A	T	11: 32,472,832 (GRCm39)	I205K	probably benign	Het
Ezh1	A	G	11: 101,107,819 (GRCm39)		probably null	Het
Galnt6	C	A	15: 100,591,274 (GRCm39)	C610F	probably damaging	Het
Gata4	C	T	14: 63,478,075 (GRCm39)	A175T	probably benign	Het
Gcc1	A	T	6: 28,420,651 (GRCm39)	I222K	probably benign	Het
Gm5591	T	A	7: 38,221,631 (GRCm39)	H146L	probably benign	Het
H2-T23	C	T	17: 36,341,258 (GRCm39)		probably null	Het
Hmcn2	T	A	2: 31,304,728 (GRCm39)	I3124N	probably benign	Het
Hsf2	C	A	10: 57,382,317 (GRCm39)	D364E	probably benign	Het
Il15ra	A	G	2: 11,738,016 (GRCm39)	T250A	possibly damaging	Het
Large2	T	C	2: 92,197,487 (GRCm39)	E372G	probably benign	Het
Map2	A	G	1: 66,478,169 (GRCm39)		probably benign	Het
Med24	T	C	11: 98,601,609 (GRCm39)	Y524C	probably damaging	Het
Mfsd6l	C	A	11: 68,448,096 (GRCm39)	Q316K	probably benign	Het
Mroh6	T	C	15: 75,757,840 (GRCm39)	T417A	possibly damaging	Het
Mymk	T	C	2: 26,952,200 (GRCm39)	*181W	probably null	Het
Nup210l	A	G	3: 90,087,505 (GRCm39)	T1093A	probably benign	Het
Or10al4	T	A	17: 38,037,268 (GRCm39)	C118S	probably damaging	Het
Or10p1	A	G	10: 129,443,732 (GRCm39)	V206A	probably benign	Het
Or8b54	C	T	9: 38,687,252 (GRCm39)	R234W	probably damaging	Het
Papola	T	C	12: 105,793,219 (GRCm39)	V513A	probably benign	Het
Pex26	T	A	6: 121,162,806 (GRCm39)	L119Q	probably damaging	Het
Phldb2	T	C	16: 45,568,249 (GRCm39)	I1219V	probably damaging	Het
Plch2	A	G	4: 155,095,251 (GRCm39)	V64A	probably benign	Het
Plekho1	A	G	3: 95,902,937 (GRCm39)	V24A	probably damaging	Het
Pon2	A	C	6: 5,265,455 (GRCm39)	S311A	probably benign	Het
Pramel31	G	T	4: 144,089,041 (GRCm39)	E120*	probably null	Het
Rsrc2	T	C	5: 123,877,645 (GRCm39)		probably benign	Het
Selenov	T	C	7: 27,987,572 (GRCm39)	D295G	probably damaging	Het
Serpina10	T	A	12: 103,595,075 (GRCm39)	Y48F	probably benign	Het
Setbp1	T	A	18: 78,900,190 (GRCm39)	D1159V	possibly damaging	Het
Setx	C	T	2: 29,036,995 (GRCm39)	T1160I	probably benign	Het
Sin3b	A	C	8: 73,459,971 (GRCm39)		probably null	Het
Skint11	A	G	4: 114,102,042 (GRCm39)	K352E	possibly damaging	Het
Slitrk5	T	A	14: 111,919,118 (GRCm39)	V914E	possibly damaging	Het
Srgap1	A	G	10: 121,643,788 (GRCm39)	Y633H	probably damaging	Het
Stard9	A	G	2: 120,529,839 (GRCm39)	D2032G	probably damaging	Het
Sv2c	G	A	13: 96,118,391 (GRCm39)	T486I	possibly damaging	Het
Tesk1	T	C	4: 43,447,100 (GRCm39)	F496S	probably damaging	Het
Tfg	T	A	16: 56,533,071 (GRCm39)	E29D	possibly damaging	Het
Tnc	G	A	4: 63,880,333 (GRCm39)	T2038I	probably damaging	Het
Tor4a	T	G	2: 25,084,976 (GRCm39)	N309T	probably damaging	Het
Trim69	A	G	2: 122,003,821 (GRCm39)	T257A	probably benign	Het
Trpm6	C	T	19: 18,790,828 (GRCm39)	A621V	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vmn1r6	A	C	6: 56,980,179 (GRCm39)	Q258H	probably damaging	Het
Vmn2r84	A	G	10: 130,221,863 (GRCm39)	C786R	probably damaging	Het
Xylt2	T	C	11: 94,557,953 (GRCm39)	D638G	probably benign	Het
Zfp934	A	G	13: 62,665,652 (GRCm39)	C330R	probably 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
R5294:Or52w1	UTSW	7	105,017,620 (GRCm39)	missense	probably benign	0.41
R5955:Or52w1	UTSW	7	105,017,776 (GRCm39)	missense	probably damaging	1.00
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'- AAAGGCCTTTGGTACATGTAGTTC -3'
(R):5'- GGCCAAAGTTTAGAGGTGCC -3'

Sequencing Primer
(F):5'- TGGTACATGTAGTTCTCACATCTG -3'
(R):5'- TGCCAGTGATATACATACTAAGGGTG -3'

Posted On

2016-07-06