Mutagenetix > Incidental Mutation

Incidental Mutation 'R8794:Olfr1272'

671086

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: 0.137) question?

Stock #

R8794 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90280263-90292841 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 90281806 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 256 (Y256*)

Ref Sequence

ENSEMBL: ENSMUSP00000150745 (fasta)

Gene Model

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

AlphaFold

Q8VGN8

Predicted Effect

probably null
Transcript: ENSMUST00000099750
AA Change: Y256*

SMART Domains

Protein: ENSMUSP00000097339
Gene: ENSMUSG00000075061
AA Change: Y256*

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 null
Transcript: ENSMUST00000117141
AA Change: Y256*

Coding Region Coverage

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

Validation Efficiency

100% (86/86)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,008,107	V498D	unknown	Het
Actn1	C	T	12: 80,198,980		probably benign	Het
Actrt2	T	C	4: 154,666,719	E320G	probably damaging	Het
Adamts7	C	T	9: 90,194,186	Q1265*	probably null	Het
Adra1a	A	G	14: 66,637,615	N13S	probably benign	Het
Alpk3	G	T	7: 81,057,655	R9L	unknown	Het
Ankrd42	A	G	7: 92,614,466	F225L	probably benign	Het
C3	T	C	17: 57,221,011	E736G	probably benign	Het
Ccng1	A	G	11: 40,753,999	S24P	probably benign	Het
Cdc42bpa	A	T	1: 180,067,251	N332I	probably damaging	Het
Cep131	G	A	11: 120,081,248	P90S	probably benign	Het
Chd8	A	G	14: 52,204,447	S2154P	probably damaging	Het
Cilp	A	G	9: 65,279,253	S877G	probably benign	Het
Clic6	T	A	16: 92,528,099	S382T	possibly damaging	Het
Coq8a	G	T	1: 180,179,208	P85Q	probably benign	Het
Creb3l4	A	G	3: 90,237,918	I309T	probably benign	Het
Cux2	T	C	5: 121,869,243	E785G	probably benign	Het
Cyfip2	A	G	11: 46,253,973	F685L	possibly damaging	Het
Epha6	T	C	16: 60,205,672	D469G	probably benign	Het
Erc1	A	T	6: 119,630,655	V962E	probably damaging	Het
Esrrb	A	T	12: 86,470,264	S57C	probably damaging	Het
Fam169a	A	G	13: 97,114,120	T320A	possibly damaging	Het
Farsb	C	T	1: 78,425,041		probably benign	Het
Frem3	T	C	8: 80,612,278	V400A	probably damaging	Het
Frem3	A	T	8: 80,616,222	M1715L	probably benign	Het
Frmpd1	A	G	4: 45,279,632	T786A	probably benign	Het
Gapvd1	A	T	2: 34,704,318	S886T	possibly damaging	Het
Gba2	A	G	4: 43,568,077	S737P	probably damaging	Het
Gm4869	A	G	5: 140,476,030	E529G	probably damaging	Het
Gm525	A	G	11: 89,088,653	N85S	probably damaging	Het
Gnpda1	T	A	18: 38,332,038	D175V	probably benign	Het
Heatr5b	T	C	17: 78,815,586	I655V	probably benign	Het
Hmcn1	G	A	1: 150,715,718	T1910I	probably benign	Het
Idh1	CA	CAA	1: 65,165,188		probably null	Het
Ier2	A	T	8: 84,662,467	D95E	probably damaging	Het
Ifi208	A	G	1: 173,695,804	R547G	possibly damaging	Het
Itih3	T	A	14: 30,912,897	S639C	possibly damaging	Het
March7	G	A	2: 60,243,671		probably null	Het
Mep1b	A	C	18: 21,091,268	T373P	probably damaging	Het
Mlh3	G	A	12: 85,235,723	P1379S	probably damaging	Het
Nav3	T	A	10: 109,769,171	K1014*	probably null	Het
Nme1	A	T	11: 93,960,832	F78I	probably benign	Het
Nos3	T	A	5: 24,371,747	V458D	probably damaging	Het
Noxa1	A	G	2: 25,094,840	F29L	probably benign	Het
Nrcam	G	A	12: 44,578,175	G1055D	probably benign	Het
Nutf2	A	T	8: 105,875,539		probably benign	Het
Olfr1218	T	C	2: 89,055,133	M98V	probably benign	Het
Olfr506	A	T	7: 108,612,373	D22V	probably benign	Het
Olfr869	A	T	9: 20,137,334	M73L	possibly damaging	Het
Oog3	A	G	4: 144,157,986	I460T	probably benign	Het
Pde2a	A	T	7: 101,505,929	Y559F	possibly damaging	Het
Pde6d	G	A	1: 86,547,487	Q61*	probably null	Het
Pdpr	A	G	8: 111,125,608	T536A	possibly damaging	Het
Pias4	T	A	10: 81,164,012	K69M	probably damaging	Het
Pigo	A	T	4: 43,023,787	D188E	possibly damaging	Het
Pik3r2	A	G	8: 70,771,363	V270A	probably benign	Het
Plod2	T	A	9: 92,600,748	W456R	probably damaging	Het
Pmpcb	T	C	5: 21,756,834	V450A	probably benign	Het
Poln	G	A	5: 34,129,527	T99I	possibly damaging	Het
Prg2	A	G	2: 84,982,060	D38G	possibly damaging	Het
Psmd7	A	C	8: 107,584,199	Y138D	probably damaging	Het
Ptprk	T	A	10: 28,263,508	Y76*	probably null	Het
Ranbp2	T	A	10: 58,492,592	V2810E	probably damaging	Het
Rgma	A	T	7: 73,417,900	H411L	probably damaging	Het
Sapcd1	T	C	17: 35,027,838	T25A	probably damaging	Het
Serpinb6e	T	C	13: 33,840,994	I105V	possibly damaging	Het
Serpinb9f	A	T	13: 33,329,413	T158S	probably benign	Het
Sirpb1b	T	A	3: 15,548,783	T80S	probably benign	Het
Skint6	A	T	4: 113,192,672	S265R	possibly damaging	Het
Slc23a2	A	T	2: 132,060,709	F524L	probably benign	Het
Slc2a13	C	A	15: 91,350,099	G345C	probably damaging	Het
Sp110	A	G	1: 85,583,510		probably null	Het
Srcin1	A	G	11: 97,548,977	V109A	probably benign	Het
Tfcp2l1	A	G	1: 118,632,388	N70S	probably damaging	Het
Tmem30c	T	A	16: 57,270,190	H218L	probably benign	Het
Tmprss11d	G	A	5: 86,338,821	T70I	probably damaging	Het
Tnpo2	A	T	8: 85,038,485	Q32L	probably benign	Het
Trav16n	A	C	14: 53,351,410	T48P	probably damaging	Het
Ufc1	A	G	1: 171,289,522	Y110H	probably damaging	Het
Wars2	A	G	3: 99,216,572	K250E	probably damaging	Het
Wdfy4	G	T	14: 33,147,092	N326K	probably benign	Het
Xirp2	A	T	2: 67,511,213	E1266V	probably damaging	Het
Zfp423	A	C	8: 87,781,229	L829R	probably damaging	Het
Zfp735	A	G	11: 73,712,203	K658E	possibly damaging	Het
Zscan12	T	A	13: 21,363,677	C10S	possibly damaging	Het
Zswim3	T	A	2: 164,820,767	M389K	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
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
R8347:Olfr1272	UTSW	2	90281676	missense	probably benign	0.22
R8703:Olfr1272	UTSW	2	90296493	missense	probably damaging	1.00
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'- TGTTGTGATGGCCAACAGTG -3'

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

Posted On

2021-04-30