Mutagenetix > Incidental Mutation

Incidental Mutation 'R0666:Olfr1272'

218819

Institutional Source

Beutler Lab

Gene Symbol

Olfr1272

Ensembl Gene

ENSMUSG00000075061

Gene Name

olfactory receptor 1272

Synonyms

GA_x6K02T2Q125-51636504-51635578, MOR227-3

MMRRC Submission

038851-MU

Accession Numbers

Essential gene?

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

Stock #

R0666 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

90280263-90292841 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90281868 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 236 (S236T)

Ref Sequence

ENSEMBL: ENSMUSP00000150745 (fasta)

Gene Model

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

AlphaFold

Q8VGN8

Predicted Effect

probably damaging
Transcript: ENSMUST00000099750
AA Change: S236T

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097339
Gene: ENSMUSG00000075061
AA Change: S236T

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 damaging
Transcript: ENSMUST00000117141
AA Change: S236T

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.7%

Validation Efficiency

100% (89/89)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	G	11: 78,287,987	M2026R	probably damaging	Het
2610507B11Rik	T	A	11: 78,277,212	L1491*	probably null	Het
Akap6	T	A	12: 52,911,808	V782E	probably damaging	Het
Atg9a	A	G	1: 75,185,090	L604P	probably damaging	Het
Atp1a3	T	C	7: 24,990,549	I482V	probably benign	Het
Ccdc105	C	A	10: 78,750,547	L223F	probably benign	Het
Ccdc18	T	G	5: 108,163,664	V412G	probably benign	Het
Cct6a	A	G	5: 129,794,386		noncoding transcript	Het
Clpx	A	G	9: 65,310,225	N25S	probably damaging	Het
Cnpy2	T	A	10: 128,327,025	C171*	probably null	Het
Cntnap3	C	T	13: 64,757,397	D857N	probably damaging	Het
Col5a1	A	G	2: 28,032,685	Y255C	probably damaging	Het
Coro7	A	T	16: 4,631,911	F638Y	possibly damaging	Het
Cpd	A	G	11: 76,782,327	F1331L	probably damaging	Het
Csmd1	A	T	8: 16,069,049	I1842N	possibly damaging	Het
Dgkg	T	A	16: 22,562,730	D490V	probably damaging	Het
Dnah9	A	T	11: 66,085,458	M1255K	probably benign	Het
E2f1	A	G	2: 154,560,929	V306A	probably benign	Het
Entpd1	A	G	19: 40,659,906		probably benign	Het
Esrrb	T	A	12: 86,505,902	I222N	probably benign	Het
Fam159b	G	T	13: 104,858,354	T95K	possibly damaging	Het
Flt4	G	T	11: 49,625,447	A126S	possibly damaging	Het
Galnt11	C	T	5: 25,252,147	T237I	possibly damaging	Het
Gbf1	A	G	19: 46,262,544		probably benign	Het
Gm20388	A	T	8: 122,270,988		probably benign	Het
Gm7030	T	C	17: 36,127,834	T222A	possibly damaging	Het
Herc1	T	A	9: 66,484,888		probably benign	Het
Hsph1	T	C	5: 149,631,502	Y105C	probably damaging	Het
Il23r	T	C	6: 67,434,680	T358A	probably benign	Het
Il2ra	C	T	2: 11,643,073		probably benign	Het
Kbtbd4	G	T	2: 90,914,115		probably benign	Het
Kcnt1	A	G	2: 25,891,243		probably benign	Het
Kng2	A	G	16: 22,997,122		probably benign	Het
Lap3	C	T	5: 45,511,928	T473I	possibly damaging	Het
Lrrk2	T	C	15: 91,757,070		probably null	Het
Map1s	A	G	8: 70,914,052	N534D	possibly damaging	Het
Mtg1	G	A	7: 140,144,344	V122I	probably benign	Het
Myadm	T	A	7: 3,297,349	I209K	probably damaging	Het
Ntsr2	G	A	12: 16,653,980	V75I	probably benign	Het
Olfr1037	G	A	2: 86,085,213	A188V	probably benign	Het
Pfn1	T	C	11: 70,654,366	T39A	probably benign	Het
Pipox	T	A	11: 77,883,825	K144M	probably benign	Het
Plekhh1	G	A	12: 79,069,115	E811K	probably damaging	Het
Pnpla3	T	A	15: 84,179,305	W295R	probably benign	Het
Prkacb	T	A	3: 146,751,518	T136S	probably damaging	Het
Ralbp1	T	A	17: 65,854,129	N473I	probably benign	Het
Rbp4	G	A	19: 38,118,460	T127M	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rps3a1	G	A	3: 86,138,117		probably benign	Het
Scg3	G	T	9: 75,643,940	Y429*	probably null	Het
Spag5	T	C	11: 78,313,396	S492P	probably damaging	Het
St7	T	A	6: 17,934,239	M540K	probably damaging	Het
Stxbp3	C	A	3: 108,805,302	V281F	possibly damaging	Het
Sun5	A	G	2: 153,859,048	V242A	possibly damaging	Het
Susd5	G	T	9: 114,095,784	R245L	possibly damaging	Het
Syne2	A	G	12: 75,923,013	E954G	probably damaging	Het
Synpo2	A	T	3: 123,114,059	V536E	probably damaging	Het
Tas2r140	T	C	6: 133,055,442	I118V	probably benign	Het
Tbx18	C	A	9: 87,724,409	V228L	probably benign	Het
Tdrd9	T	A	12: 112,007,580		probably benign	Het
Tg	T	C	15: 66,737,521	M310T	probably benign	Het
Ticam2	T	A	18: 46,560,651	D123V	probably damaging	Het
Timm23	A	G	14: 32,199,036		probably benign	Het
Tinag	C	T	9: 77,005,687	R280H	probably benign	Het
Topbp1	G	A	9: 103,308,812	R51K	probably benign	Het
Tor1b	A	G	2: 30,953,913	I121V	probably damaging	Het
Tpmt	C	A	13: 47,032,454	G148V	probably damaging	Het
Tubb1	A	G	2: 174,457,755	E410G	probably damaging	Het
Ubash3b	C	A	9: 41,047,064	V7L	possibly damaging	Het
Ube2o	C	T	11: 116,542,835	E686K	probably damaging	Het
Unc13d	T	A	11: 116,069,492		probably benign	Het
Vmn1r183	A	T	7: 24,055,176	M135L	probably benign	Het
Wisp3	T	C	10: 39,151,289	R316G	probably benign	Het
Xkr8	T	C	4: 132,732,338	Y43C	probably damaging	Het
Zc3h4	T	A	7: 16,434,772	N935K	unknown	Het
Zc3h7a	G	A	16: 11,156,303		probably benign	Het
Zfp84	C	T	7: 29,776,851	H323Y	probably damaging	Het
Zfp873	G	T	10: 82,060,761	S442I	possibly damaging	Het
Zfp938	A	G	10: 82,225,772	L338P	probably damaging	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
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
R8347:Olfr1272	UTSW	2	90281676	missense	probably benign	0.22
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'- ATTTTGGTTACTAGAGAGGTGCAGCAG -3'
(R):5'- AGTCGTCAAGTGTGTCACATGTTGG -3'

Sequencing Primer
(F):5'- TGCAGCAGTAGAAGAATGATACTC -3'
(R):5'- GGTCCCAATGTGATTGACCAC -3'

Posted On

2014-08-21