Mutagenetix > Incidental Mutation

Incidental Mutation 'R5840:Or52a33'

450379

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

MMRRC Submission

044060-MU

Accession Numbers

Essential gene?

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

Stock #

R5840 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103288392-103289345 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 103288463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 295 (V295I)

Ref Sequence

ENSEMBL: ENSMUSP00000151149 (fasta)

Gene Model

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

AlphaFold

Q8VGY7

Predicted Effect

probably benign
Transcript: ENSMUST00000058744
AA Change: V295I

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000058312
Gene: ENSMUSG00000050085
AA Change: V295I

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 benign
Transcript: ENSMUST00000213536
AA Change: V295I

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216337

Predicted Effect

probably benign
Transcript: ENSMUST00000216570
AA Change: V295I

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.8%
3x: 99.3%
10x: 96.5%
20x: 88.1%

Validation Efficiency

99% (75/76)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	G	A	2: 25,323,371 (GRCm39)	R113Q	probably benign	Het
Aip	G	A	19: 4,166,010 (GRCm39)	P147L	possibly damaging	Het
Anapc1	A	C	2: 128,448,957 (GRCm39)		probably benign	Het
Arhgap42	C	T	9: 9,046,518 (GRCm39)	V240I	possibly damaging	Het
Axdnd1	T	C	1: 156,176,528 (GRCm39)	E684G	probably damaging	Het
BC005624	G	A	2: 30,871,869 (GRCm39)	R2W	probably benign	Het
Cd177	T	G	7: 24,457,495 (GRCm39)	Q182P	probably damaging	Het
Cdca5	G	A	19: 6,140,399 (GRCm39)	E187K	possibly damaging	Het
Chmp1a	T	C	8: 123,934,839 (GRCm39)	Q39R	probably benign	Het
Dab2ip	A	G	2: 35,617,511 (GRCm39)	I1079V	probably damaging	Het
Dip2c	A	T	13: 9,556,712 (GRCm39)	E85D	possibly damaging	Het
Elmo2	A	T	2: 165,137,472 (GRCm39)	S497R	possibly damaging	Het
Ephb6	C	T	6: 41,592,507 (GRCm39)	A339V	possibly damaging	Het
Foxred1	T	C	9: 35,121,435 (GRCm39)	K38E	probably damaging	Het
Frem2	T	A	3: 53,555,342 (GRCm39)	T1732S	probably damaging	Het
Fto	A	G	8: 92,393,068 (GRCm39)		probably benign	Het
Gm17430	T	A	18: 9,726,528 (GRCm39)	Q48L	probably damaging	Het
Gng2	A	G	14: 19,925,882 (GRCm39)	I70T	probably damaging	Het
Gtf2a2	A	G	9: 69,922,575 (GRCm39)		probably benign	Het
Invs	A	G	4: 48,396,284 (GRCm39)	D263G	probably damaging	Het
Itga2b	C	T	11: 102,352,157 (GRCm39)	V475M	probably damaging	Het
Kansl1l	A	G	1: 66,809,374 (GRCm39)		probably benign	Het
Klhl25	T	C	7: 75,516,440 (GRCm39)	F449L	possibly damaging	Het
Lamb1	T	A	12: 31,316,755 (GRCm39)	C83S	probably damaging	Het
Loxl4	G	T	19: 42,587,154 (GRCm39)	T648K	probably damaging	Het
Lrit2	T	C	14: 36,790,962 (GRCm39)	F214L	possibly damaging	Het
N4bp2	T	G	5: 65,965,437 (GRCm39)	L1162R	probably damaging	Het
Naa40	A	T	19: 7,207,373 (GRCm39)	I117N	probably benign	Het
Ncapd3	T	C	9: 27,006,054 (GRCm39)	S1492P	probably benign	Het
Nf2	T	A	11: 4,766,146 (GRCm39)	D128V	probably benign	Het
Nox4	T	C	7: 87,010,001 (GRCm39)	S401P	probably benign	Het
Nt5c1b	T	C	12: 10,427,171 (GRCm39)	V323A	probably damaging	Het
Or52s19	T	A	7: 103,007,576 (GRCm39)	H275L	probably damaging	Het
Or5b118	G	A	19: 13,449,242 (GRCm39)	V303I	probably benign	Het
Pcdhb14	T	C	18: 37,581,803 (GRCm39)	V303A	probably benign	Het
Pde8a	C	A	7: 80,863,713 (GRCm39)	H17Q	probably benign	Het
Pfkl	C	T	10: 77,824,558 (GRCm39)	V716I	probably benign	Het
Phc3	G	A	3: 30,990,732 (GRCm39)	S495L	possibly damaging	Het
Psg18	A	G	7: 18,080,527 (GRCm39)		probably benign	Het
Rcc2	T	G	4: 140,439,449 (GRCm39)	N175K	possibly damaging	Het
Rhot2	G	A	17: 26,059,032 (GRCm39)	T276I	probably benign	Het
Rnase9	A	T	14: 51,276,445 (GRCm39)	Y178N	probably benign	Het
Sema4b	T	C	7: 79,868,697 (GRCm39)	C297R	probably damaging	Het
Slc35d2	T	C	13: 64,266,227 (GRCm39)		probably null	Het
Sptlc3	A	T	2: 139,389,126 (GRCm39)	N169Y	probably damaging	Het
Srsf9	T	G	5: 115,469,524 (GRCm39)	M29R	probably benign	Het
Stip1	C	A	19: 6,999,436 (GRCm39)	D449Y	possibly damaging	Het
Syne2	T	A	12: 75,927,065 (GRCm39)		probably null	Het
Tgm5	A	G	2: 120,916,141 (GRCm39)		probably null	Het
Thbs2	A	T	17: 14,901,692 (GRCm39)		probably null	Het
Trak2	T	C	1: 58,958,432 (GRCm39)	E283G	probably damaging	Het
Trbv21	A	G	6: 41,179,792 (GRCm39)	Y36C	probably damaging	Het
Trpm7	A	T	2: 126,664,531 (GRCm39)	Y949*	probably null	Het
Ubqln5	T	C	7: 103,778,161 (GRCm39)	D221G	possibly damaging	Het
Ubxn4	T	A	1: 128,187,262 (GRCm39)	V85D	possibly damaging	Het
Vmn1r172	T	A	7: 23,359,600 (GRCm39)	W162R	probably benign	Het
Vrk2	A	G	11: 26,484,314 (GRCm39)		probably benign	Het
Zc3h8	A	C	2: 128,771,824 (GRCm39)	D276E	probably benign	Het
Zfp369	C	T	13: 65,445,092 (GRCm39)	T745I	possibly damaging	Het
Zfp608	T	C	18: 55,031,978 (GRCm39)	K654R	probably 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
R1487:Or52a33	UTSW	7	103,288,801 (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
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'- GCAGCATATTAAATCATGAACTATGTC -3'
(R):5'- AATGCTCGTTCTAAAGCCCTGG -3'

Sequencing Primer
(F):5'- GTCCTGTGAAAGCTCAATGC -3'
(R):5'- CGTATTGGCAAGAAGGTC -3'

Posted On

2016-12-20