Mutagenetix > Incidental Mutation

Incidental Mutation 'R7625:Or52a33'

589388

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

045719-MU

Accession Numbers

Essential gene?

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

Stock #

R7625 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103288392-103289345 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103289165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 61 (Y61H)

Ref Sequence

ENSEMBL: ENSMUSP00000150390 (fasta)

Gene Model

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

AlphaFold

Q8VGY7

Predicted Effect

probably damaging
Transcript: ENSMUST00000058744
AA Change: Y61H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000058312
Gene: ENSMUSG00000050085
AA Change: Y61H

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: Y61H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216570
AA Change: Y61H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (59/60)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	A	8: 111,773,587 (GRCm39)	V506E	probably damaging	Het
Acaa2	G	T	18: 74,937,213 (GRCm39)	V366F	possibly damaging	Het
Ago1	G	A	4: 126,337,022 (GRCm39)	R532C	probably benign	Het
Ank2	T	G	3: 126,846,449 (GRCm39)	D182A	probably damaging	Het
Anxa4	T	C	6: 86,714,801 (GRCm39)	D302G	probably damaging	Het
Apoa4	A	T	9: 46,154,410 (GRCm39)	E337V	probably damaging	Het
Atf1	A	G	15: 100,152,158 (GRCm39)		probably null	Het
Atp8b3	A	C	10: 80,355,980 (GRCm39)	V1244G	probably benign	Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,157,152 (GRCm39)		probably benign	Het
Camk2a	G	A	18: 61,085,412 (GRCm39)	V132M	probably damaging	Het
Cdc40	A	T	10: 40,724,048 (GRCm39)	Y247N	probably benign	Het
Chd8	G	A	14: 52,474,534 (GRCm39)	P166S	probably benign	Het
Chl1	T	A	6: 103,706,086 (GRCm39)	S1140R	probably damaging	Het
Clstn3	G	T	6: 124,414,377 (GRCm39)	S783*	probably null	Het
Col6a1	A	G	10: 76,549,760 (GRCm39)	S562P	unknown	Het
Cpb2	G	A	14: 75,509,989 (GRCm39)	V250M	possibly damaging	Het
Cyp2c38	T	A	19: 39,451,368 (GRCm39)	Q44L	possibly damaging	Het
Dgat1	T	C	15: 76,387,395 (GRCm39)	M325V	possibly damaging	Het
Dnah11	T	A	12: 118,160,377 (GRCm39)	M118L	probably benign	Het
Dpy19l3	T	A	7: 35,452,106 (GRCm39)	I13L	probably benign	Het
Enkd1	A	G	8: 106,431,265 (GRCm39)		probably null	Het
Fam241b	A	G	10: 61,970,479 (GRCm39)		probably benign	Het
Fhit	T	A	14: 9,870,177 (GRCm38)		probably null	Het
Gp6	T	C	7: 4,373,173 (GRCm39)	E250G	probably benign	Het
Hmgb1	T	C	5: 148,987,150 (GRCm39)	E84G	probably benign	Het
Hscb	T	A	5: 110,977,012 (GRCm39)	I227F	probably damaging	Het
Hspg2	T	A	4: 137,292,249 (GRCm39)	L4047Q	probably damaging	Het
Hsph1	A	G	5: 149,541,901 (GRCm39)	L775P	probably benign	Het
Hydin	A	T	8: 111,268,476 (GRCm39)	S2947C	probably benign	Het
Intu	T	C	3: 40,652,029 (GRCm39)	S829P	probably benign	Het
Kcnn3	C	A	3: 89,516,977 (GRCm39)	T462K	probably damaging	Het
Kndc1	G	A	7: 139,517,930 (GRCm39)	C1622Y	possibly damaging	Het
Lifr	T	C	15: 7,198,723 (GRCm39)	Y318H	probably damaging	Het
Mier2	A	G	10: 79,378,543 (GRCm39)	S332P	probably damaging	Het
Mindy4	T	C	6: 55,253,598 (GRCm39)	I489T	possibly damaging	Het
Mmp8	A	T	9: 7,566,218 (GRCm39)	Q358L	probably benign	Het
Ms4a4a	T	A	19: 11,367,728 (GRCm39)		probably null	Het
Nav1	G	C	1: 135,395,483 (GRCm39)	S962C	probably damaging	Het
Nfe2l1	G	A	11: 96,710,271 (GRCm39)	R653C	probably damaging	Het
Nherf4	A	T	9: 44,161,594 (GRCm39)	I95N	probably damaging	Het
Nod2	A	T	8: 89,391,906 (GRCm39)	I738F	probably damaging	Het
Nrf1	G	A	6: 30,116,230 (GRCm39)	V301I	probably benign	Het
Oog1	T	C	12: 87,655,082 (GRCm39)	F410S	probably benign	Het
Or6k4	G	A	1: 173,964,733 (GRCm39)	C141Y	probably benign	Het
Pcdhga8	G	A	18: 37,859,954 (GRCm39)	V337I	probably benign	Het
Pelp1	G	T	11: 70,286,260 (GRCm39)	N572K	probably benign	Het
Pikfyve	T	C	1: 65,307,036 (GRCm39)	V1808A	possibly damaging	Het
Pirt	A	C	11: 66,816,769 (GRCm39)	S27R	probably damaging	Het
Pramel20	A	T	4: 143,298,821 (GRCm39)	I255L	probably benign	Het
Rgs17	A	T	10: 5,791,488 (GRCm39)	D96E	probably benign	Het
Senp1	A	G	15: 97,964,679 (GRCm39)	F206L	probably benign	Het
Sh3rf1	T	A	8: 61,825,756 (GRCm39)	S584T	probably benign	Het
Tex44	A	T	1: 86,354,459 (GRCm39)	K123*	probably null	Het
Tpst2	C	A	5: 112,455,887 (GRCm39)	T142K	probably damaging	Het
Ttc28	G	A	5: 111,433,085 (GRCm39)	G2040R	possibly damaging	Het
Uggt2	T	A	14: 119,263,905 (GRCm39)	I1042F	probably damaging	Het
Vmn2r91	T	C	17: 18,325,693 (GRCm39)	S104P	probably damaging	Het
Wdfy3	T	C	5: 102,003,252 (GRCm39)		probably null	Het
Zeb2	G	A	2: 44,892,584 (GRCm39)	A223V	probably damaging	Het
Zfp1002	T	C	2: 150,096,520 (GRCm39)	D303G	probably benign	Het
Zfp566	A	G	7: 29,777,930 (GRCm39)	S84P	probably benign	Het
Zfp994	T	A	17: 22,420,736 (GRCm39)	H71L	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
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
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
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'- CGATCAAATGCCATGGCTAC -3'
(R):5'- TTCTACCAAACATACAGCAAGTTGG -3'

Sequencing Primer
(F):5'- CTACTAGGATGGCTGACTCCATG -3'
(R):5'- CAAGTTGGATTTTAACATGGTAGGC -3'

Posted On

2019-10-24