Mutagenetix > Incidental Mutation

Incidental Mutation 'R5294:Or52w1'

405305

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

042877-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R5294 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105017535-105018524 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 105017620 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 20 (T20I)

Ref Sequence

ENSEMBL: ENSMUSP00000095755 (fasta)

Gene Model

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

AlphaFold

Q8VF03

Predicted Effect

probably benign
Transcript: ENSMUST00000098152
AA Change: T20I

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095755
Gene: ENSMUSG00000073906
AA Change: T20I

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: T29I

Predicted Effect

probably benign
Transcript: ENSMUST00000217827
AA Change: T29I

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.1568

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

97% (70/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579C12Rik	T	C	9: 89,034,056 (GRCm39)		noncoding transcript	Het
Acaca	A	G	11: 84,282,345 (GRCm39)	E2154G	probably benign	Het
Acacb	T	C	5: 114,380,013 (GRCm39)	F2056L	probably damaging	Het
Aff1	A	G	5: 103,959,023 (GRCm39)		probably benign	Het
Amn1	T	A	6: 149,086,622 (GRCm39)		probably benign	Het
Arid1a	C	A	4: 133,418,366 (GRCm39)		probably benign	Het
Aste1	T	A	9: 105,279,904 (GRCm39)		probably null	Het
Asxl3	T	A	18: 22,649,496 (GRCm39)	V495D	possibly damaging	Het
Atp1a3	T	A	7: 24,687,473 (GRCm39)	H688L	probably damaging	Het
B3gnt8	T	C	7: 25,328,191 (GRCm39)	L207P	probably damaging	Het
Baz2b	T	C	2: 59,808,946 (GRCm39)	H101R	probably benign	Het
Bicc1	G	A	10: 70,783,730 (GRCm39)	T387M	possibly damaging	Het
Champ1	A	C	8: 13,928,981 (GRCm39)	K380Q	probably damaging	Het
Cnst	A	G	1: 179,438,005 (GRCm39)	E523G	probably benign	Het
Cops6	G	C	5: 138,159,378 (GRCm39)		probably benign	Het
Cp	G	C	3: 20,020,480 (GRCm39)	V158L	probably benign	Het
Cyfip1	T	A	7: 55,523,231 (GRCm39)	M52K	possibly damaging	Het
Dars1	A	T	1: 128,292,039 (GRCm39)	F480I	probably benign	Het
Diaph1	C	A	18: 38,030,603 (GRCm39)	E284*	probably null	Het
Diaph1	T	C	18: 38,030,633 (GRCm39)	M274V	unknown	Het
Dock8	G	A	19: 25,038,517 (GRCm39)	V68M	probably benign	Het
Elavl4	A	G	4: 110,068,627 (GRCm39)	F247L	possibly damaging	Het
Emc10	C	T	7: 44,145,863 (GRCm39)		probably benign	Het
Fbxw16	T	C	9: 109,265,712 (GRCm39)	D369G	probably benign	Het
Fgr	A	T	4: 132,724,811 (GRCm39)	D304V	probably benign	Het
Filip1l	G	A	16: 57,390,399 (GRCm39)	S91N	possibly damaging	Het
Haus8	A	G	8: 71,708,354 (GRCm39)	S103P	unknown	Het
Hscb	A	G	5: 110,982,658 (GRCm39)	L143P	probably damaging	Het
Hsd11b2	A	T	8: 106,249,929 (GRCm39)	M347L	probably benign	Het
Jrk	C	A	15: 74,579,185 (GRCm39)	E33D	possibly damaging	Het
Kbtbd8	T	A	6: 95,098,813 (GRCm39)	Y123*	probably null	Het
Lrrc37	A	G	11: 103,507,057 (GRCm39)		probably benign	Het
Mis18bp1	A	C	12: 65,203,817 (GRCm39)	M59R	probably damaging	Het
Mrps27	T	C	13: 99,546,381 (GRCm39)	V260A	probably damaging	Het
Ncapg2	G	T	12: 116,391,414 (GRCm39)	V488L	possibly damaging	Het
Nepn	A	T	10: 52,276,896 (GRCm39)	N211Y	probably benign	Het
Ntrk3	A	T	7: 78,167,254 (GRCm39)		probably null	Het
Or10x4	A	T	1: 174,218,791 (GRCm39)	Y52F	probably benign	Het
Or11h23	A	G	14: 50,947,900 (GRCm39)	T38A	possibly damaging	Het
Or11h23	A	G	14: 50,948,236 (GRCm39)	I150V	probably benign	Het
Otud4	A	T	8: 80,399,521 (GRCm39)	Q744L	possibly damaging	Het
P2ry14	A	T	3: 59,022,989 (GRCm39)	I166N	possibly damaging	Het
Pak2	T	A	16: 31,840,648 (GRCm39)	N478Y	probably damaging	Het
Papss2	A	G	19: 32,616,400 (GRCm39)	D202G	probably benign	Het
Pcdh7	C	A	5: 57,885,453 (GRCm39)		probably null	Het
Peg3	C	A	7: 6,720,848 (GRCm39)	S19I	possibly damaging	Het
Prim2	G	T	1: 33,707,974 (GRCm39)	T40K	probably benign	Het
Ranbp2	T	C	10: 58,314,490 (GRCm39)	F1737L	probably benign	Het
Rex2	A	C	4: 147,142,442 (GRCm39)	N310T	probably benign	Het
Rnf123	AT	ATT	9: 107,941,202 (GRCm39)		probably null	Het
Rnf39	C	T	17: 37,258,092 (GRCm39)	A86V	probably damaging	Het
Ror1	A	T	4: 100,283,135 (GRCm39)	N400I	probably benign	Het
Slc38a8	C	T	8: 120,221,028 (GRCm39)	G177D	probably damaging	Het
Slc43a3	T	C	2: 84,786,654 (GRCm39)	V445A	probably benign	Het
Sptbn2	A	G	19: 4,768,936 (GRCm39)	N23S	possibly damaging	Het
Taf5l	A	G	8: 124,734,957 (GRCm39)	F74L	probably benign	Het
Trappc11	G	C	8: 47,983,766 (GRCm39)	A42G	possibly damaging	Het
Trim30d	T	C	7: 104,121,695 (GRCm39)	K350R	probably damaging	Het
Trnt1	T	C	6: 106,750,375 (GRCm39)	F93S	probably damaging	Het
Ube2c	T	C	2: 164,619,110 (GRCm39)	V161A	probably benign	Het
Usp24	A	G	4: 106,219,554 (GRCm39)	E555G	possibly damaging	Het
Vmn2r55	T	G	7: 12,385,791 (GRCm39)	S730R	probably damaging	Het
Vmn2r89	T	A	14: 51,692,570 (GRCm39)	N124K	probably benign	Het
Vmn2r98	T	A	17: 19,290,016 (GRCm39)	C517*	probably null	Het
Vps13a	A	T	19: 16,619,031 (GRCm39)	I2845N	probably damaging	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Xpo5	T	C	17: 46,547,848 (GRCm39)	V896A	probably benign	Het
Zfp2	T	C	11: 50,792,068 (GRCm39)		probably benign	Het
Zgrf1	G	A	3: 127,394,629 (GRCm39)	M1328I	probably benign	Het
Zswim5	A	G	4: 116,836,774 (GRCm39)	D686G	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
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'- TAATATTCCAGGCCCTTCACCAG -3'
(R):5'- TGTACAGGTTGGGGTCCAAG -3'

Sequencing Primer
(F):5'- AGGCCCTTCACCAGTTCATG -3'
(R):5'- CAGCAACTCTGGGGCTATAG -3'

Posted On

2016-07-22