Mutagenetix > Incidental Mutation

Incidental Mutation 'R9002:Olfr522'

685030

Institutional Source

Beutler Lab

Gene Symbol

Olfr522

Ensembl Gene

ENSMUSG00000051180

Gene Name

olfactory receptor 522

Synonyms

MOR103-5, GA_x6K02T2PBJ9-42315125-42314187

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R9002 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140159999-140164764 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140162285 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 222 (I222V)

Ref Sequence

ENSEMBL: ENSMUSP00000057288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050585]

AlphaFold

Q8VGL1

Predicted Effect

probably damaging
Transcript: ENSMUST00000050585
AA Change: I222V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000057288
Gene: ENSMUSG00000051180
AA Change: I222V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	1.7e-54	PFAM
Pfam:7tm_1	42	291	1.2e-21	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,291,926	M1263K	possibly damaging	Het
Abca8b	C	T	11: 109,952,630	D985N	probably benign	Het
Ak5	A	T	3: 152,653,454	M207K	probably damaging	Het
Akt1	T	C	12: 112,659,614	I75V	probably benign	Het
Ank	T	A	15: 27,544,327	L58*	probably null	Het
Ap1g1	A	C	8: 109,855,106	T666P	probably benign	Het
Ap3b2	A	T	7: 81,467,444	S615T	probably benign	Het
Ash1l	G	T	3: 88,981,408	R198L	probably benign	Het
Axl	A	T	7: 25,778,678	C199S	probably damaging	Het
C1d	T	C	11: 17,262,787	L44S	probably damaging	Het
Chst13	G	A	6: 90,309,524	P152L	probably damaging	Het
Col4a4	A	G	1: 82,471,311	L1186P	probably benign	Het
Ctdsp2	T	A	10: 126,996,192	I223N	probably damaging	Het
Eml1	T	A	12: 108,538,179	I799N	probably damaging	Het
Fbxw18	G	A	9: 109,690,592	T282I	probably damaging	Het
Fmo2	A	T	1: 162,878,078	C397*	probably null	Het
Gbp10	C	A	5: 105,221,981	V262L	probably benign	Het
Gm11639	A	T	11: 105,029,996	D4671V	probably damaging	Het
Gm45871	A	T	18: 90,591,844	H402L	probably damaging	Het
Has1	T	C	17: 17,843,650	S576G	unknown	Het
Hat1	C	T	2: 71,441,303	R407W	probably damaging	Het
Hivep2	G	T	10: 14,132,413	R1585L	probably benign	Het
Ifi211	A	G	1: 173,906,328	V89A	possibly damaging	Het
Igkv4-59	T	C	6: 69,438,491	T27A	possibly damaging	Het
Irf9	T	A	14: 55,607,683	N333K	possibly damaging	Het
Jakmip2	C	T	18: 43,582,258	V68I	probably benign	Het
Kif1b	T	G	4: 149,191,255	I1400L	probably damaging	Het
Kif2b	C	T	11: 91,576,227	C410Y	probably benign	Het
Klk1b16	T	C	7: 44,140,765	L153P	possibly damaging	Het
Kndc1	C	T	7: 139,927,795	S1222F	possibly damaging	Het
Lama5	A	G	2: 180,196,518	C855R	probably damaging	Het
Mast3	A	G	8: 70,781,260	L947P	probably damaging	Het
Mblac2	C	A	13: 81,711,953	A142E	possibly damaging	Het
Mppe1	A	G	18: 67,225,854	S348P	possibly damaging	Het
Mroh8	A	C	2: 157,217,019	V909G	probably damaging	Het
Mthfd1	C	T	12: 76,303,980	T712M	probably benign	Het
Nek10	T	C	14: 14,980,590	L982P	probably damaging	Het
Nlrp4b	C	T	7: 10,714,959	T363I	probably damaging	Het
Nol10	A	G	12: 17,358,133	E120G	probably damaging	Het
Olfml1	T	C	7: 107,590,216	S163P	probably damaging	Het
Olfr1104	T	C	2: 87,021,897	T216A	probably benign	Het
Olfr135	A	T	17: 38,208,664	N140Y	probably benign	Het
Olfr576	A	T	7: 102,965,411	I104F	probably damaging	Het
Olfr902	T	A	9: 38,448,875	M1K	probably null	Het
Pde6a	T	A	18: 61,285,989	L812Q	probably damaging	Het
Pdxp	T	A	15: 78,918,259	M231K	probably damaging	Het
Pi4ka	A	G	16: 17,299,453	L1368P		Het
Ppie	T	C	4: 123,130,551	N171S	possibly damaging	Het
Rimbp2	T	C	5: 128,788,292	H657R	probably benign	Het
Sarnp	T	A	10: 128,821,973		probably null	Het
Serpinb9c	T	C	13: 33,150,346	T266A	probably damaging	Het
Srgap3	T	A	6: 112,780,893	I218F	possibly damaging	Het
Susd1	C	A	4: 59,324,882	W717L	probably benign	Het
Tgfbi	A	G	13: 56,623,589	Y88C	probably damaging	Het
Tmc6	A	T	11: 117,770,482	F624Y	probably damaging	Het
Tnni2	A	G	7: 142,444,276	E172G	probably damaging	Het
Traf3ip1	T	C	1: 91,505,456	S316P	probably benign	Het
Tshr	C	A	12: 91,537,774	N495K	possibly damaging	Het
Ulk3	C	A	9: 57,593,259	A317E	probably damaging	Het
Usp24	T	C	4: 106,418,215	V2229A	possibly damaging	Het
Usp32	G	A	11: 85,053,951	R304C	probably damaging	Het
Usp40	C	T	1: 88,007,341	G28D	probably benign	Het
Vmn1r41	A	G	6: 89,747,127	K217E	possibly damaging	Het
Vmn2r73	T	A	7: 85,858,076	K676M	probably benign	Het
Vnn1	A	G	10: 23,899,451	T200A	possibly damaging	Het
Zc3hav1	A	G	6: 38,325,241	L698P	possibly damaging	Het

Other mutations in Olfr522

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01806:Olfr522	APN	7	140162928	missense	probably benign	0.01
IGL02121:Olfr522	APN	7	140162694	missense	probably benign	0.10
IGL02399:Olfr522	APN	7	140162600	missense	probably benign
IGL02803:Olfr522	APN	7	140162374	missense	possibly damaging	0.92
R0446:Olfr522	UTSW	7	140162471	missense	probably damaging	1.00
R0538:Olfr522	UTSW	7	140162231	missense	probably damaging	1.00
R0707:Olfr522	UTSW	7	140162089	missense	probably damaging	1.00
R1466:Olfr522	UTSW	7	140162203	missense	probably damaging	1.00
R1466:Olfr522	UTSW	7	140162203	missense	probably damaging	1.00
R1584:Olfr522	UTSW	7	140162203	missense	probably damaging	1.00
R1893:Olfr522	UTSW	7	140162821	missense	probably damaging	1.00
R1895:Olfr522	UTSW	7	140162813	missense	possibly damaging	0.82
R2004:Olfr522	UTSW	7	140162816	missense	probably damaging	0.98
R2060:Olfr522	UTSW	7	140162824	missense	probably damaging	1.00
R2067:Olfr522	UTSW	7	140162909	missense	possibly damaging	0.69
R4841:Olfr522	UTSW	7	140162689	missense	possibly damaging	0.94
R4842:Olfr522	UTSW	7	140162689	missense	possibly damaging	0.94
R4956:Olfr522	UTSW	7	140162080	missense	possibly damaging	0.70
R5189:Olfr522	UTSW	7	140162719	missense	probably damaging	0.98
R5325:Olfr522	UTSW	7	140162113	missense	probably damaging	1.00
R5441:Olfr522	UTSW	7	140162651	missense	probably benign	0.36
R5618:Olfr522	UTSW	7	140162272	missense	probably damaging	1.00
R6031:Olfr522	UTSW	7	140162809	missense	possibly damaging	0.82
R6031:Olfr522	UTSW	7	140162809	missense	possibly damaging	0.82
R6609:Olfr522	UTSW	7	140162563	missense	probably benign
R7154:Olfr522	UTSW	7	140162084	missense	probably benign	0.00
R8370:Olfr522	UTSW	7	140162768	missense	probably damaging	0.98
R8765:Olfr522	UTSW	7	140162554	missense	probably benign
R9112:Olfr522	UTSW	7	140162747	missense
R9431:Olfr522	UTSW	7	140162029	missense	probably benign	0.04
R9513:Olfr522	UTSW	7	140162909	missense	possibly damaging	0.69
R9563:Olfr522	UTSW	7	140162320	missense	probably damaging	1.00
R9641:Olfr522	UTSW	7	140162858	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGCAGTAGATTATAGGGTTCAGC -3'
(R):5'- AGCTCTTAGTGCCTGGCTTG -3'

Sequencing Primer
(F):5'- GGTCACTACCGAGTAAATCACAG -3'
(R):5'- GTGTCCACGGCTCTCATC -3'

Posted On

2021-10-11