Mutagenetix > Incidental Mutation

Incidental Mutation 'R1487:Or52a33'

163527

Institutional Source

Beutler Lab

Gene Symbol

Or52a33

Ensembl Gene

ENSMUSG00000050085

Gene Name

olfactory receptor family 52 subfamily A member 33

Synonyms

GA_x6K02T2PBJ9-6362863-6361910, MOR26-1, Olfr622

Accession Numbers

Essential gene?

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

Stock #

R1487 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103288392-103289345 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103288801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 182 (H182L)

Ref Sequence

ENSEMBL: ENSMUSP00000151149 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058744] [ENSMUST00000213536] [ENSMUST00000216570]

AlphaFold

Q8VGY7

Predicted Effect

probably damaging
Transcript: ENSMUST00000058744
AA Change: H182L

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

SMART Domains

Protein: ENSMUSP00000058312
Gene: ENSMUSG00000050085
AA Change: H182L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	312	4.2e-100	PFAM
Pfam:7TM_GPCR_Srsx	36	308	2.3e-6	PFAM
Pfam:7tm_1	42	293	6.1e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213536
AA Change: H182L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216337

Predicted Effect

probably damaging
Transcript: ENSMUST00000216570
AA Change: H182L

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

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.4%
20x: 92.9%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	A	C	6: 146,854,877 (GRCm39)	V55G	probably benign	Het
Abhd13	A	G	8: 10,037,402 (GRCm39)		probably benign	Het
Arid5b	T	A	10: 67,933,044 (GRCm39)	K953*	probably null	Het
Armh3	A	C	19: 45,928,882 (GRCm39)		probably null	Het
B4galt6	A	G	18: 20,839,571 (GRCm39)	V121A	possibly damaging	Het
C1qtnf12	G	A	4: 156,050,331 (GRCm39)	E223K	probably damaging	Het
Calu	A	G	6: 29,366,955 (GRCm39)	I208V	probably benign	Het
Cd14	T	C	18: 36,858,537 (GRCm39)	N306S	probably benign	Het
Cdc16	T	A	8: 13,821,445 (GRCm39)	N415K	probably benign	Het
Cfap57	C	A	4: 118,471,978 (GRCm39)	V134F	probably benign	Het
Chrna2	C	T	14: 66,380,812 (GRCm39)	A27V	probably benign	Het
Chtf18	T	C	17: 25,939,583 (GRCm39)	K67R	probably benign	Het
Clock	T	C	5: 76,414,201 (GRCm39)		probably null	Het
Cplane1	C	T	15: 8,215,715 (GRCm39)	R424W	probably damaging	Het
Eif4g1	G	A	16: 20,497,623 (GRCm39)		probably benign	Het
Eps8l2	A	T	7: 140,941,531 (GRCm39)	M601L	probably benign	Het
Fat4	A	G	3: 39,050,066 (GRCm39)	E3976G	possibly damaging	Het
Flrt3	T	A	2: 140,502,854 (GRCm39)	H258L	probably damaging	Het
Flt4	C	A	11: 49,523,971 (GRCm39)	T517K	possibly damaging	Het
Galnt7	T	C	8: 57,993,073 (GRCm39)	N416S	probably damaging	Het
Gipc1	C	T	8: 84,387,808 (GRCm39)	Q63*	probably null	Het
Gm17079	A	T	14: 51,930,542 (GRCm39)		probably null	Het
Gucy2c	T	A	6: 136,725,824 (GRCm39)	I375F	possibly damaging	Het
Hps4	C	T	5: 112,525,865 (GRCm39)	Q629*	probably null	Het
Hunk	A	G	16: 90,183,525 (GRCm39)	Y61C	probably damaging	Het
Itga6	T	C	2: 71,673,584 (GRCm39)	S873P	possibly damaging	Het
Kcnc1	A	G	7: 46,047,298 (GRCm39)	H66R	possibly damaging	Het
Kcnc1	T	C	7: 46,084,772 (GRCm39)		probably null	Het
Khdc3	A	G	9: 73,009,846 (GRCm39)	T19A	probably benign	Het
Kmt2a	T	C	9: 44,745,287 (GRCm39)		probably benign	Het
Lipe	C	T	7: 25,084,240 (GRCm39)	A615T	possibly damaging	Het
Lrguk	A	T	6: 34,039,295 (GRCm39)	M269L	probably benign	Het
Lrrc18	A	G	14: 32,730,640 (GRCm39)	N60D	probably damaging	Het
Magi1	T	C	6: 93,685,060 (GRCm39)	T773A	probably benign	Het
Map3k14	T	A	11: 103,116,163 (GRCm39)	D755V	possibly damaging	Het
Mecom	T	C	3: 30,034,213 (GRCm39)	T488A	probably damaging	Het
Mmp10	T	G	9: 7,509,978 (GRCm39)	W473G	probably damaging	Het
Mrgpra2a	C	T	7: 47,076,434 (GRCm39)	V275I	probably benign	Het
Myo7a	A	C	7: 97,703,017 (GRCm39)		probably null	Het
Nadsyn1	C	T	7: 143,360,662 (GRCm39)	V369I	probably benign	Het
Nptxr	C	A	15: 79,674,104 (GRCm39)	G424V	probably damaging	Het
Nrg2	C	T	18: 36,185,965 (GRCm39)	G258E	possibly damaging	Het
Nup210	G	A	6: 91,019,558 (GRCm39)	P221S	probably damaging	Het
Odad2	A	T	18: 7,273,245 (GRCm39)	Y282N	probably damaging	Het
Or6c208	T	C	10: 129,224,209 (GRCm39)	F236L	probably benign	Het
Oxct1	A	G	15: 4,177,057 (GRCm39)	D477G	possibly damaging	Het
Pcdh8	G	T	14: 80,006,987 (GRCm39)	D525E	probably damaging	Het
Phldb2	A	G	16: 45,609,387 (GRCm39)	S740P	probably damaging	Het
Prss54	A	G	8: 96,286,276 (GRCm39)	S266P	probably benign	Het
Ptprh	T	A	7: 4,555,737 (GRCm39)	I741F	probably damaging	Het
Rab11fip1	G	T	8: 27,644,240 (GRCm39)	S515Y	probably damaging	Het
Recql4	T	A	15: 76,593,183 (GRCm39)	N309I	probably benign	Het
Sec24a	T	C	11: 51,622,713 (GRCm39)	T388A	possibly damaging	Het
Setd6	T	A	8: 96,444,556 (GRCm39)	L83H	probably damaging	Het
Slc6a12	G	A	6: 121,340,716 (GRCm39)	W534*	probably null	Het
St14	C	T	9: 31,008,476 (GRCm39)	C488Y	probably damaging	Het
Supt16	A	G	14: 52,414,065 (GRCm39)		probably null	Het
Tanc2	A	G	11: 105,814,460 (GRCm39)	Y1968C	probably damaging	Het
Tcaim	T	A	9: 122,647,897 (GRCm39)	Y137*	probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpm3	A	T	3: 89,997,389 (GRCm39)		probably null	Het
Trip12	A	T	1: 84,746,352 (GRCm39)	N475K	probably damaging	Het
Twnk	G	T	19: 44,996,815 (GRCm39)		probably null	Het
Zfp287	T	C	11: 62,616,115 (GRCm39)	K192R	probably damaging	Het
Zfp799	G	T	17: 33,039,651 (GRCm39)	T204N	possibly damaging	Het

Other mutations in Or52a33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01445:Or52a33	APN	7	103,289,039 (GRCm39)	missense	probably damaging	1.00
IGL02972:Or52a33	APN	7	103,289,101 (GRCm39)	missense	probably damaging	1.00
PIT4434001:Or52a33	UTSW	7	103,289,054 (GRCm39)	missense	probably damaging	1.00
R1989:Or52a33	UTSW	7	103,288,702 (GRCm39)	missense	probably damaging	1.00
R3880:Or52a33	UTSW	7	103,288,831 (GRCm39)	missense	probably benign	0.33
R4595:Or52a33	UTSW	7	103,289,308 (GRCm39)	missense	probably damaging	1.00
R4989:Or52a33	UTSW	7	103,289,308 (GRCm39)	missense	probably damaging	1.00
R5715:Or52a33	UTSW	7	103,289,009 (GRCm39)	missense	probably damaging	1.00
R5840:Or52a33	UTSW	7	103,288,463 (GRCm39)	missense	probably benign	0.05
R6046:Or52a33	UTSW	7	103,288,886 (GRCm39)	missense	probably benign	0.01
R6207:Or52a33	UTSW	7	103,289,209 (GRCm39)	missense	probably benign	0.29
R6294:Or52a33	UTSW	7	103,288,798 (GRCm39)	missense	probably damaging	1.00
R6392:Or52a33	UTSW	7	103,288,889 (GRCm39)	missense	probably benign
R6522:Or52a33	UTSW	7	103,288,504 (GRCm39)	missense	probably damaging	1.00
R6996:Or52a33	UTSW	7	103,289,065 (GRCm39)	missense	probably benign	0.10
R7069:Or52a33	UTSW	7	103,289,167 (GRCm39)	missense	probably damaging	0.99
R7251:Or52a33	UTSW	7	103,288,909 (GRCm39)	missense	probably damaging	1.00
R7625:Or52a33	UTSW	7	103,289,165 (GRCm39)	missense	probably damaging	1.00
R8309:Or52a33	UTSW	7	103,288,658 (GRCm39)	missense	probably damaging	1.00
R8699:Or52a33	UTSW	7	103,288,822 (GRCm39)	missense	probably damaging	1.00
R8750:Or52a33	UTSW	7	103,289,059 (GRCm39)	missense	probably damaging	0.97
R8949:Or52a33	UTSW	7	103,288,702 (GRCm39)	missense	probably damaging	1.00
X0018:Or52a33	UTSW	7	103,288,805 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATTCTGGGAAGAGAGCCGAAACAC -3'
(R):5'- GCACACTGGATCAACTTTGATGCC -3'

Sequencing Primer
(F):5'- CGAAACACTGACTGGAGGATTTTTAC -3'
(R):5'- TCATGGAGTCAGCCATCCTAGTAG -3'

Posted On

2014-03-28