Mutagenetix > Incidental Mutation

Incidental Mutation 'R0363:Olfr1272'

30164

Institutional Source

Beutler Lab

Gene Symbol

Olfr1272

Ensembl Gene

ENSMUSG00000075061

Gene Name

olfactory receptor 1272

Synonyms

GA_x6K02T2Q125-51636504-51635578, MOR227-3

MMRRC Submission

038569-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R0363 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90280263-90292841 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90281856 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 240 (S240T)

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: S240T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097339
Gene: ENSMUSG00000075061
AA Change: S240T

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: S240T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 86.5%

Validation Efficiency

98% (78/80)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	T	A	4: 109,524,323	Q86L	probably null	Het
5430403G16Rik	T	C	5: 109,676,888	E232G	probably benign	Het
Abhd2	A	G	7: 79,350,813	D262G	possibly damaging	Het
Abhd5	T	C	9: 122,368,146	F133L	possibly damaging	Het
Agap2	T	A	10: 127,090,965	V957E	probably damaging	Het
Ankrd12	T	C	17: 65,985,681	K919R	probably damaging	Het
Ap1m1	T	C	8: 72,256,724		probably benign	Het
Ap1m1	T	C	8: 72,252,894	S245P	probably benign	Het
Apcdd1	A	G	18: 62,937,097	Y145C	possibly damaging	Het
Apob	A	T	12: 8,010,136	N2840Y	probably damaging	Het
Arel1	A	G	12: 84,934,253	S327P	probably damaging	Het
Arhgap21	C	A	2: 20,881,133	R421L	probably damaging	Het
Ccdc85a	A	T	11: 28,583,400	I48N	probably damaging	Het
Chd6	A	G	2: 161,014,324	S672P	probably damaging	Het
Ciz1	G	C	2: 32,377,363		probably null	Het
Cmbl	G	A	15: 31,585,442		probably null	Het
Cmya5	A	G	13: 93,094,869	V1237A	possibly damaging	Het
Cntnap4	A	T	8: 112,856,511	K1074*	probably null	Het
Cntnap5b	A	G	1: 100,274,468	M347V	probably benign	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Cuzd1	A	T	7: 131,316,262	M203K	probably benign	Het
Cyp3a16	T	C	5: 145,455,879		probably benign	Het
Dlgap3	A	G	4: 127,235,521	E892G	probably damaging	Het
Dnah7b	T	C	1: 46,236,788	S2612P	probably damaging	Het
Epas1	T	G	17: 86,805,848		probably benign	Het
Etv5	G	A	16: 22,411,708	A192V	probably benign	Het
Fa2h	T	A	8: 111,349,289	H234L	probably damaging	Het
Fcho1	T	C	8: 71,717,490	Y47C	probably damaging	Het
Flvcr1	T	A	1: 191,012,254		probably benign	Het
Il1rl1	CTTGTTGTTGTTGTTGTTG	CTTGTTGTTGTTGTTGTTGTTG	1: 40,442,574		probably benign	Het
Ino80	G	A	2: 119,382,960	R1249C	probably damaging	Het
Inpp4b	T	C	8: 81,884,257		probably benign	Het
Isy1	G	A	6: 87,819,185	R257W	probably damaging	Het
Kmt2a	A	G	9: 44,809,713		probably null	Het
Krt4	G	A	15: 101,924,646	R9C	possibly damaging	Het
Map1a	T	C	2: 121,302,044	S876P	probably damaging	Het
Mettl21e	A	G	1: 44,211,030		probably null	Het
Msh2	C	T	17: 87,717,476	T594M	probably benign	Het
Mtmr3	A	G	11: 4,487,536	S973P	probably damaging	Het
Muc5ac	A	T	7: 141,800,960	M889L	probably benign	Het
Ntn1	A	G	11: 68,385,543	I193T	probably benign	Het
Nudt13	A	T	14: 20,309,783	I193F	probably damaging	Het
Olfr134	A	G	17: 38,175,447	D121G	probably damaging	Het
Olfr410	C	T	11: 74,335,099	G44D	probably damaging	Het
Olfr498	A	T	7: 108,465,734	T137S	possibly damaging	Het
Otulin	A	G	15: 27,606,295	V344A	probably damaging	Het
P2rx7	C	T	5: 122,657,030	Q128*	probably null	Het
Pcdhb22	G	A	18: 37,519,160	R227H	probably benign	Het
Plekha5	G	A	6: 140,591,747	R646K	possibly damaging	Het
Pltp	C	T	2: 164,840,136	R394H	probably benign	Het
Ppip5k1	C	G	2: 121,347,355	A324P	probably damaging	Het
Pramef17	C	T	4: 143,991,651	M407I	probably benign	Het
Prdm13	A	C	4: 21,679,737	V251G	unknown	Het
Prkg1	T	C	19: 31,664,196	E29G	probably damaging	Het
Prrc2c	A	G	1: 162,697,811	S409P	unknown	Het
Rp1	T	A	1: 4,347,718	D1057V	probably damaging	Het
Rttn	G	A	18: 89,010,955	C599Y	probably damaging	Het
Shisa6	C	T	11: 66,525,327	R213Q	probably benign	Het
Slc3a1	T	C	17: 85,032,845	Y232H	probably damaging	Het
Slx4	G	A	16: 3,980,089	A1477V	probably damaging	Het
Ssrp1	T	G	2: 85,040,674	I218S	probably damaging	Het
St6galnac1	A	C	11: 116,768,930	S186A	probably benign	Het
Stab1	A	G	14: 31,159,008		probably benign	Het
Sycp2	T	C	2: 178,346,411		probably benign	Het
Syne2	T	A	12: 76,072,207	I5867N	probably damaging	Het
Taar7f	T	A	10: 24,049,941	D144E	probably damaging	Het
Tmem136	A	T	9: 43,111,753	M84K	probably damaging	Het
Tmem87b	T	A	2: 128,831,233	S196T	probably damaging	Het
Tnfrsf21	A	G	17: 43,037,877	T127A	probably benign	Het
Trp73	A	G	4: 154,063,949	I336T	probably benign	Het
Ttl	A	G	2: 129,076,061	I148V	probably damaging	Het
Ttll7	T	C	3: 146,944,215	Y667H	probably benign	Het
Ubr4	A	G	4: 139,391,860	T152A	probably damaging	Het
Vmn1r58	A	T	7: 5,410,637	V198E	probably damaging	Het
Vps52	T	A	17: 33,962,117	F376L	probably benign	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
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
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

2013-04-24