Mutagenetix > Incidental Mutation

Incidental Mutation 'R8347:Olfr1272'

645277

Institutional Source

Beutler Lab

Gene Symbol

Olfr1272

Ensembl Gene

ENSMUSG00000075061

Gene Name

olfactory receptor 1272

Synonyms

GA_x6K02T2Q125-51636504-51635578, MOR227-3

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R8347 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90280263-90292841 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90281676 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 300 (W300R)

Ref Sequence

ENSEMBL: ENSMUSP00000150745 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099750] [ENSMUST00000117141]

AlphaFold

Q8VGN8

Predicted Effect

probably benign
Transcript: ENSMUST00000099750
AA Change: W300R

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000097339
Gene: ENSMUSG00000075061
AA Change: W300R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	7.5e-52	PFAM
Pfam:7TM_GPCR_Srsx	33	300	1.5e-5	PFAM
Pfam:7tm_1	39	285	1.8e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117141
AA Change: W300R

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	A	13: 59,742,236	D590V	possibly damaging	Het
1700123K08Rik	T	A	5: 138,562,891	I170L	probably benign	Het
Adamts15	C	T	9: 30,902,550	R773Q	probably benign	Het
Ankib1	A	G	5: 3,747,065	L249P	probably damaging	Het
Cabin1	A	G	10: 75,742,367	F499L	probably damaging	Het
Clec12b	C	T	6: 129,380,487		probably null	Het
Col23a1	G	A	11: 51,571,256	G373D	probably damaging	Het
Cse1l	C	T	2: 166,927,585	T304I	possibly damaging	Het
D6Wsu163e	T	A	6: 126,955,288	L330*	probably null	Het
Dbi	A	C	1: 120,120,820	L32R	possibly damaging	Het
Dennd2c	A	G	3: 103,157,709	Y716C	probably damaging	Het
Dnah5	G	A	15: 28,236,666	M379I	possibly damaging	Het
Dpys	T	C	15: 39,857,313	D17G	probably benign	Het
Dync2h1	C	T	9: 7,116,578	S2319N	possibly damaging	Het
Dyrk2	T	C	10: 118,859,983	K457E	probably damaging	Het
Efs	A	G	14: 54,919,784	C357R	probably benign	Het
Egfr	T	A	11: 16,878,174	W516R	probably damaging	Het
Folh1	T	A	7: 86,729,118	R529*	probably null	Het
Fsip2	A	C	2: 82,987,854	I4644L	probably benign	Het
Garnl3	T	C	2: 33,085,891	Y66C	probably damaging	Het
Gli3	T	C	13: 15,723,525	L730P	probably damaging	Het
Gm19668	T	C	10: 77,798,387	*249W	probably null	Het
Gm28710	G	A	5: 16,801,574	M96I	probably benign	Het
Ighv2-6-8	T	C	12: 113,796,327	D54G	probably benign	Het
Irs2	C	A	8: 11,008,000	S144I	possibly damaging	Het
Itgb5	T	C	16: 33,940,678	C628R	probably damaging	Het
Kcnh4	A	T	11: 100,757,749	V43D	probably damaging	Het
Krtap16-3	A	T	16: 88,962,619	Y69N	unknown	Het
Lcn12	A	C	2: 25,492,033	D176E	possibly damaging	Het
Lilr4b	T	A	10: 51,481,754	F181L	probably damaging	Het
Med13l	T	A	5: 118,742,597	H1251Q	probably benign	Het
Nppb	C	A	4: 147,986,299	L44M	probably damaging	Het
Nutm2	T	C	13: 50,472,337	V320A	probably benign	Het
Olfr291	C	T	7: 84,856,755	P131S	probably damaging	Het
Olfr628	A	G	7: 103,731,943	S6G	probably benign	Het
Olfr987	T	A	2: 85,331,703	H65L	probably damaging	Het
Padi6	T	C	4: 140,735,408	M301V	probably benign	Het
Pappa	G	A	4: 65,327,065	R1530Q	probably damaging	Het
Pcgf6	C	T	19: 47,045,838	D255N	possibly damaging	Het
Pgap3	TCAGCAGCAGCAGCAGCAG	TCAGCAGCAGCAGCAG	11: 98,390,749		probably benign	Het
Phip	A	G	9: 82,908,763	I710T	probably benign	Het
Pla2r1	A	T	2: 60,534,903	Y108N	probably damaging	Het
Plat	G	T	8: 22,772,232	G91W	probably damaging	Het
Rint1	C	G	5: 23,811,772	L512V	probably damaging	Het
Sdad1	A	C	5: 92,298,229	F282L	probably benign	Het
Sirt5	G	T	13: 43,380,501	A189S	probably benign	Het
Slc14a1	T	C	18: 78,111,431	T247A	probably benign	Het
Slc22a6	C	G	19: 8,621,805	R267G	probably damaging	Het
Slfn3	A	G	11: 83,213,589	K429E	possibly damaging	Het
Spag17	T	C	3: 100,027,641	F721S	probably benign	Het
St3gal1	G	A	15: 67,113,662	R48C	probably damaging	Het
Sult2a6	A	G	7: 14,225,958	Y217H	probably benign	Het
Synj2	A	G	17: 6,009,785	N394S	probably damaging	Het
Telo2	A	T	17: 25,104,637	Y605*	probably null	Het
Trank1	T	A	9: 111,367,249	L1447Q	probably damaging	Het
Trim56	A	G	5: 137,112,592	L690P	probably damaging	Het
Trmt13	T	C	3: 116,582,768	T325A	probably benign	Het
Ttn	T	A	2: 76,709,467	T34392S	probably benign	Het
Uncx	A	G	5: 139,546,816	E212G	probably damaging	Het
Ush2a	A	G	1: 188,947,084	T4830A	probably benign	Het
Usp34	C	A	11: 23,412,345	T1616N		Het
Vars	C	T	17: 35,015,977	L1261F	possibly damaging	Het
Vmn1r223	T	C	13: 23,249,850	S205P	probably damaging	Het
Vmn2r118	A	T	17: 55,610,423	I363K	possibly damaging	Het
Vmn2r69	A	T	7: 85,415,630	M16K	probably benign	Het
Wdr62	G	A	7: 30,262,703	T428I	possibly damaging	Het
Yeats4	A	T	10: 117,217,469	L129Q	probably benign	Het
Zfp423	T	C	8: 87,783,156	R187G	probably damaging	Het
Zfp853	A	T	5: 143,288,947	L321Q	unknown	Het

Other mutations in Olfr1272

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01304:Olfr1272	APN	2	90282081	missense	possibly damaging	0.55
IGL01824:Olfr1272	APN	2	90281919	missense	probably damaging	1.00
IGL01951:Olfr1272	APN	2	90282007	missense	probably damaging	1.00
IGL02473:Olfr1272	APN	2	90281696	missense	probably null	1.00
IGL02494:Olfr1272	APN	2	90281951	missense	probably benign	0.35
IGL03410:Olfr1272	APN	2	90282213	missense	probably damaging	1.00
R0350:Olfr1272	UTSW	2	90282582	splice site	probably null
R0363:Olfr1272	UTSW	2	90281856	missense	probably damaging	1.00
R0401:Olfr1272	UTSW	2	90282404	missense	probably damaging	1.00
R0666:Olfr1272	UTSW	2	90281868	missense	probably damaging	0.96
R1860:Olfr1272	UTSW	2	90282158	missense	probably damaging	1.00
R1861:Olfr1272	UTSW	2	90282158	missense	probably damaging	1.00
R2374:Olfr1272	UTSW	2	90282451	missense	possibly damaging	0.76
R4256:Olfr1272	UTSW	2	90282062	missense	probably damaging	1.00
R4737:Olfr1272	UTSW	2	90282381	missense	probably damaging	1.00
R4827:Olfr1272	UTSW	2	90282203	missense	probably damaging	1.00
R5198:Olfr1272	UTSW	2	90296393	missense	probably damaging	1.00
R5589:Olfr1272	UTSW	2	90281969	missense	probably damaging	1.00
R6412:Olfr1272	UTSW	2	90281858	missense	probably damaging	1.00
R7130:Olfr1272	UTSW	2	90281922	missense	probably benign
R7317:Olfr1272	UTSW	2	90282404	missense	probably damaging	1.00
R7497:Olfr1272	UTSW	2	90281754	missense	possibly damaging	0.74
R7762:Olfr1272	UTSW	2	90296631	nonsense	probably null
R8271:Olfr1272	UTSW	2	90282272	missense	possibly damaging	0.74
R8703:Olfr1272	UTSW	2	90296493	missense	probably damaging	1.00
R8794:Olfr1272	UTSW	2	90281806	nonsense	probably null
R8824:Olfr1272	UTSW	2	90296012	missense	probably damaging	0.98
R8910:Olfr1272	UTSW	2	90296504	missense	possibly damaging	0.80
R8934:Olfr1272	UTSW	2	90282012	missense	probably benign	0.07
R9548:Olfr1272	UTSW	2	90281647	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- GGTTACTAGAGAGGTGCAGC -3'
(R):5'- TGCTATCATTCTAATCAGCTTGAGG -3'

Sequencing Primer
(F):5'- GCAGCAGTAGAAGAATGATACTCTTC -3'
(R):5'- GTGCCTCTCACATCACAGTGG -3'

Posted On

2020-09-02