Mutagenetix > Incidental Mutation

Incidental Mutation 'R5254:Olfr723'

512262

Institutional Source

Beutler Lab

Gene Symbol

Olfr723

Ensembl Gene

ENSMUSG00000093825

Gene Name

olfactory receptor 723

Synonyms

GA_x6K02T2PMLR-5600424-5599495, MOR247-4, MOR247-3P

MMRRC Submission

042825-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R5254 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

49928563-49931787 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49928779 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 255 (I255N)

Ref Sequence

ENSEMBL: ENSMUSP00000145863 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164157] [ENSMUST00000206058]

AlphaFold

E9PZU2

Predicted Effect

probably damaging
Transcript: ENSMUST00000164157
AA Change: I255N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129254
Gene: ENSMUSG00000093825
AA Change: I255N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	305	1.8e-44	PFAM
Pfam:7TM_GPCR_Srsx	34	302	1.4e-12	PFAM
Pfam:7tm_1	41	287	4.8e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000206058
AA Change: I255N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

98% (82/84)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	G	T	8: 71,458,398	C296*	probably null	Het
Adam11	T	A	11: 102,774,272	Y413*	probably null	Het
Ankhd1	A	G	18: 36,656,715	I907V	probably benign	Het
Arrdc5	A	G	17: 56,297,897	I130T	probably benign	Het
Asic5	T	A	3: 82,020,987	I419K	probably damaging	Het
Atp4a	A	T	7: 30,715,530	E248V	probably damaging	Het
Avil	C	A	10: 127,011,761	V154L	probably benign	Het
Bclaf1	T	A	10: 20,323,536	H226Q	possibly damaging	Het
Cald1	A	G	6: 34,746,416		probably benign	Het
Cd200r4	A	C	16: 44,832,090	D27A	possibly damaging	Het
Cdsn	T	A	17: 35,552,202	M1K	probably null	Het
Cfap46	T	A	7: 139,678,514	H281L	possibly damaging	Het
Chaf1a	T	C	17: 56,062,606	F533L	probably benign	Het
Chil4	T	A	3: 106,219,452	I5F	probably benign	Het
Ctu2	A	T	8: 122,476,588	R48W	probably damaging	Het
Daam1	A	T	12: 71,946,576	H373L	unknown	Het
Dcaf10	T	A	4: 45,370,415	Y328N	possibly damaging	Het
Dst	A	T	1: 34,177,931	K1151*	probably null	Het
Ect2	T	C	3: 27,130,070	D503G	probably damaging	Het
Epm2a	C	A	10: 11,457,345	D307E	probably benign	Het
Exph5	A	T	9: 53,337,930	D73V	probably damaging	Het
Fam20b	C	T	1: 156,705,740	G102D	probably damaging	Het
Fat2	T	C	11: 55,281,175	N2904S	probably damaging	Het
Flt3	T	A	5: 147,375,690	Q147L	possibly damaging	Het
Fndc11	A	G	2: 181,222,163	T254A	possibly damaging	Het
Galnt15	C	T	14: 32,058,287	R514*	probably null	Het
Gbgt1	A	G	2: 28,505,208	D286G	probably damaging	Het
Ggt1	T	A	10: 75,579,198		probably null	Het
Gm26526	A	T	7: 39,589,234		noncoding transcript	Het
H2-K1	T	C	17: 33,997,462	T237A	probably damaging	Het
Igf1r	T	A	7: 68,207,319	S1010T	probably damaging	Het
Il21	T	C	3: 37,227,735	T87A	possibly damaging	Het
Kmt2b	G	A	7: 30,569,175	R2010C	probably damaging	Het
Kmt2c	G	A	5: 25,314,594	P2173S	probably benign	Het
Krt1	A	T	15: 101,846,368	S512T	unknown	Het
Krtap16-1	G	A	11: 99,985,598	R327*	probably null	Het
Lama1	T	A	17: 67,756,716	I745N	probably benign	Het
Lrrk1	T	A	7: 66,307,107	N372I	probably benign	Het
Lyst	A	T	13: 13,683,070	E2481D	probably benign	Het
Map2k1	A	T	9: 64,187,745		probably benign	Het
Mbip	A	G	12: 56,337,443	V215A	probably damaging	Het
Mdc1	T	A	17: 35,847,922	V398D	probably benign	Het
Mog	T	G	17: 37,012,372	I225L	probably benign	Het
Mrgprx3-ps	T	A	7: 47,309,436		noncoding transcript	Het
Muc5b	C	T	7: 141,864,540	S3741L	probably benign	Het
Myo5a	A	T	9: 75,130,120	I202F	probably damaging	Het
Myo5b	A	T	18: 74,700,606	I818F	possibly damaging	Het
Nfia	T	A	4: 98,014,297	M262K	probably damaging	Het
Nisch	C	T	14: 31,206,567		probably null	Het
Nkd1	A	G	8: 88,589,194	D64G	probably damaging	Het
Nt5c2	T	A	19: 46,893,560	K284*	probably null	Het
Olfr1052	A	T	2: 86,297,921	Y35F	probably damaging	Het
Olfr1058	A	T	2: 86,386,140	S93T	possibly damaging	Het
Olfr262	A	G	19: 12,241,248	S138P	probably damaging	Het
Olfr305	A	T	7: 86,364,190	V49E	possibly damaging	Het
Olfr619	T	G	7: 103,603,789	I45R	probably benign	Het
Olfr725	C	A	14: 50,034,678	A242S	possibly damaging	Het
Olfr972	A	T	9: 39,873,445	T57S	possibly damaging	Het
Pcdhb17	A	T	18: 37,486,825	D556V	probably damaging	Het
Pcdhga8	A	T	18: 37,726,620	D243V	probably benign	Het
Polq	A	T	16: 37,089,319	Q2355L	probably damaging	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Slc5a4a	C	A	10: 76,182,738	Y506*	probably null	Het
Sp110	G	C	1: 85,577,202		probably benign	Het
Tarbp1	G	A	8: 126,467,156	H336Y	probably damaging	Het
Tas2r134	T	G	2: 51,627,547	F13V	probably benign	Het
Tgfb2	A	G	1: 186,704,483	Y98H	probably damaging	Het
Tmprss11a	C	A	5: 86,411,806	V376L	probably damaging	Het
Tmprss11f	T	A	5: 86,538,033	K158N	probably benign	Het
Tnip2	G	T	5: 34,503,578	Q177K	probably damaging	Het
Trp53inp1	T	A	4: 11,165,075		probably null	Het
Ttc28	C	T	5: 111,271,238	P1398S	probably benign	Het
Umodl1	T	G	17: 30,980,359	I308S	possibly damaging	Het
Vcan	A	T	13: 89,691,600	S1942T	probably damaging	Het
Vmn2r124	T	A	17: 18,063,077	N344K	probably benign	Het
Vmn2r25	C	G	6: 123,825,318	C542S	probably damaging	Het
Wiz	T	A	17: 32,378,496		probably benign	Het
Wrap73	A	G	4: 154,155,346	Y343C	probably benign	Het

Other mutations in Olfr723

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01968:Olfr723	APN	14	49929098	missense	probably damaging	1.00
IGL02481:Olfr723	APN	14	49928707	missense	probably damaging	1.00
IGL03269:Olfr723	APN	14	49928708	missense	probably damaging	1.00
IGL03330:Olfr723	APN	14	49929221	missense	probably damaging	1.00
R1782:Olfr723	UTSW	14	49928639	missense	probably benign
R2061:Olfr723	UTSW	14	49929021	missense	possibly damaging	0.78
R3014:Olfr723	UTSW	14	49929032	missense	probably benign	0.00
R4134:Olfr723	UTSW	14	49928815	missense	probably damaging	1.00
R4135:Olfr723	UTSW	14	49928815	missense	probably damaging	1.00
R4212:Olfr723	UTSW	14	49928889	nonsense	probably null
R4774:Olfr723	UTSW	14	49929269	missense	probably damaging	1.00
R4951:Olfr723	UTSW	14	49929058	nonsense	probably null
R4965:Olfr723	UTSW	14	49928897	missense	probably benign	0.01
R5306:Olfr723	UTSW	14	49929550	start gained	probably benign
R5502:Olfr723	UTSW	14	49929536	missense	probably benign
R5799:Olfr723	UTSW	14	49929040	missense	probably damaging	1.00
R6062:Olfr723	UTSW	14	49928662	missense	probably damaging	1.00
R6072:Olfr723	UTSW	14	49929149	missense	probably damaging	1.00
R7816:Olfr723	UTSW	14	49929165	missense	probably damaging	1.00
R9359:Olfr723	UTSW	14	49929449	missense	probably benign
R9403:Olfr723	UTSW	14	49929449	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AATCTGTAAGCTCTATGTGCAGC -3'
(R):5'- TTCCCCTGGTAATCAAGCTTGC -3'

Sequencing Primer
(F):5'- AAGCTCTATGTGCAGCTGACTTG -3'
(R):5'- GCTTGCTTGTATTGAAACATACACTC -3'

Posted On

2018-04-12