Mutagenetix > Incidental Mutations

Incidental Mutation 'R0558:Olfr1350'

45723

Institutional Source

Beutler Lab

Gene Symbol

Olfr1350

Ensembl Gene

ENSMUSG00000056696

Gene Name

olfactory receptor 1350

Synonyms

GA_x6K02T2QGBW-3300391-3301317, MOR222-3

MMRRC Submission

038750-MU

Accession Numbers

Genbank: NM_146389.1

Is this an essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R0558 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6564841-6571401 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6570653 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 221 (Y221H)

Ref Sequence

ENSEMBL: ENSMUSP00000151318 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070985] [ENSMUST00000207221] [ENSMUST00000219278]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070985
AA Change: Y221H

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000069927
Gene: ENSMUSG00000056696
AA Change: Y221H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	305	1.6e-50	PFAM
Pfam:7tm_1	39	288	8.2e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207221
AA Change: Y221H

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219278
AA Change: Y221H

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (80/80)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930017K11Rik	T	C	17: 25,947,549	N338S	probably benign	Het
Abcc2	G	A	19: 43,800,724	G273R	probably benign	Het
Adamts10	T	C	17: 33,550,609	V935A	probably benign	Het
Anapc15-ps	T	C	10: 95,673,121	D90G	probably damaging	Het
Atic	T	A	1: 71,563,788	V107E	probably benign	Het
Atp4b	T	C	8: 13,393,523	T52A	possibly damaging	Het
Cacna1h	C	T	17: 25,381,550	A1606T	probably damaging	Het
Cacng6	T	A	7: 3,434,808	Y217*	probably null	Het
Cc2d2a	T	G	5: 43,724,387		probably benign	Het
Cd226	T	A	18: 89,207,214	H78Q	probably benign	Het
Cers3	A	G	7: 66,783,418	D161G	probably damaging	Het
Ces1f	T	C	8: 93,275,389	H37R	probably benign	Het
Chek1	T	A	9: 36,712,115	N421I	possibly damaging	Het
Cma2	T	C	14: 55,972,792	Y45H	probably damaging	Het
Cmas	C	A	6: 142,775,244	Y401*	probably null	Het
Cyp2j8	A	T	4: 96,444,634	S492T	probably benign	Het
Dnah12	T	C	14: 26,709,310	S358P	probably benign	Het
Dnajc13	T	C	9: 104,201,952		probably null	Het
Ep400	A	C	5: 110,685,067		probably benign	Het
Fam209	T	A	2: 172,472,838	N82K	probably benign	Het
Fam92a	T	C	4: 12,164,095	D248G	probably damaging	Het
G3bp2	A	T	5: 92,073,197	Y20N	probably damaging	Het
Gli2	T	C	1: 118,837,649	D924G	probably benign	Het
Gm10787	T	C	10: 77,022,016		noncoding transcript	Het
Gm11568	A	G	11: 99,858,046	R26G	unknown	Het
Gm4788	A	G	1: 139,739,492	V376A	probably damaging	Het
Hivep3	T	G	4: 120,096,566	L693R	probably damaging	Het
Hook1	A	G	4: 95,993,212		probably benign	Het
Ibtk	A	C	9: 85,737,538	D116E	probably damaging	Het
Insrr	C	T	3: 87,810,981	T927I	possibly damaging	Het
Irx1	T	G	13: 71,959,628	S312R	probably benign	Het
Itga11	T	C	9: 62,752,288	Y441H	probably benign	Het
Itsn1	A	G	16: 91,899,623	D38G	possibly damaging	Het
Kat6b	G	T	14: 21,669,421	E1280D	probably benign	Het
Kcnk10	T	A	12: 98,436,301	Y293F	possibly damaging	Het
Krt74	T	A	15: 101,760,963		noncoding transcript	Het
Lars	T	G	18: 42,214,837	I974L	probably benign	Het
Limch1	A	G	5: 66,969,155	D42G	probably damaging	Het
Mau2	G	C	8: 70,042,432	T85R	probably damaging	Het
Mkrn3	A	G	7: 62,418,864	I393T	probably benign	Het
Mpl	A	C	4: 118,444,020	S541R	probably damaging	Het
Nfrkb	T	C	9: 31,410,268	S754P	possibly damaging	Het
Olfr1170	A	G	2: 88,224,474	V186A	possibly damaging	Het
Olfr1233	A	G	2: 89,340,236	L22P	probably benign	Het
Olfr1537	T	A	9: 39,238,200	T75S	probably damaging	Het
P2rx7	A	T	5: 122,673,798	I391F	possibly damaging	Het
Pbrm1	T	A	14: 31,085,059		probably null	Het
Pcdh8	T	C	14: 79,770,076	D349G	probably damaging	Het
Pias1	A	G	9: 62,882,009	S639P	possibly damaging	Het
Pkhd1l1	A	T	15: 44,484,424	I232F	probably damaging	Het
Plxnc1	C	T	10: 94,837,935	R995Q	probably damaging	Het
Pnliprp2	T	A	19: 58,774,087	S375T	probably benign	Het
Prkar1b	C	T	5: 139,020,092	V313M	probably benign	Het
Ptpn13	T	C	5: 103,529,717	S734P	probably damaging	Het
Rdh1	T	C	10: 127,759,941	W2R	possibly damaging	Het
Rsph10b	A	T	5: 143,949,338	I285L	probably benign	Het
Rubcnl	T	C	14: 75,047,547	F502S	probably damaging	Het
Ryr2	T	A	13: 11,638,443	I3693F	probably damaging	Het
Ryr2	T	C	13: 11,799,861	Y675C	probably damaging	Het
Scaper	T	C	9: 55,685,923	T477A	probably benign	Het
Scn2a	G	T	2: 65,711,925	V791L	probably benign	Het
Sdk1	A	T	5: 142,132,065	T1573S	probably damaging	Het
Sema3c	A	T	5: 17,714,415	H483L	probably benign	Het
Sema6c	T	C	3: 95,168,691	S219P	probably damaging	Het
Slc10a5	T	G	3: 10,335,117	E161A	probably damaging	Het
Slc22a23	C	T	13: 34,344,383	G139S	possibly damaging	Het
Slc34a3	C	T	2: 25,233,065		probably benign	Het
Slc38a9	A	T	13: 112,729,196		probably null	Het
Taok1	A	C	11: 77,559,844	S367R	possibly damaging	Het
Tlr6	G	A	5: 64,954,860	Q235*	probably null	Het
Top2a	A	G	11: 98,996,839	V1281A	probably benign	Het
Tpgs1	T	C	10: 79,675,782	Y253H	probably damaging	Het
Tubgcp3	T	C	8: 12,653,462	T288A	probably benign	Het
Ubr4	A	G	4: 139,426,902	E2140G	probably benign	Het
Uso1	A	G	5: 92,174,019	Q257R	probably benign	Het
Zfp106	A	G	2: 120,532,196	V48A	probably damaging	Het
Zfp174	T	A	16: 3,848,254	S128T	possibly damaging	Het
Zscan26	T	A	13: 21,445,055	D426V	probably benign	Het

Other mutations in Olfr1350

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Olfr1350	APN	7	6570668	missense	possibly damaging	0.88
IGL01387:Olfr1350	APN	7	6570855	missense	probably damaging	1.00
IGL01457:Olfr1350	APN	7	6570212	missense	probably benign	0.12
IGL01568:Olfr1350	APN	7	6570570	missense	possibly damaging	0.91
I2288:Olfr1350	UTSW	7	6570819	missense	probably damaging	1.00
I2289:Olfr1350	UTSW	7	6570819	missense	probably damaging	1.00
R0454:Olfr1350	UTSW	7	6570360	missense	probably damaging	1.00
R1103:Olfr1350	UTSW	7	6570112	missense	probably damaging	1.00
R1352:Olfr1350	UTSW	7	6570783	missense	probably benign	0.11
R1503:Olfr1350	UTSW	7	6570471	missense	probably damaging	1.00
R1630:Olfr1350	UTSW	7	6570674	missense	probably damaging	1.00
R1981:Olfr1350	UTSW	7	6570558	missense	probably benign	0.01
R2228:Olfr1350	UTSW	7	6570803	missense	probably benign
R2258:Olfr1350	UTSW	7	6570023	missense	probably damaging	0.98
R2259:Olfr1350	UTSW	7	6570023	missense	probably damaging	0.98
R2260:Olfr1350	UTSW	7	6570023	missense	probably damaging	0.98
R4075:Olfr1350	UTSW	7	6570143	missense	probably benign	0.00
R4750:Olfr1350	UTSW	7	6570851	missense	probably benign	0.34
R4917:Olfr1350	UTSW	7	6570644	missense	possibly damaging	0.88
R4918:Olfr1350	UTSW	7	6570644	missense	possibly damaging	0.88
R5571:Olfr1350	UTSW	7	6570825	missense	possibly damaging	0.95
R5915:Olfr1350	UTSW	7	6570173	missense	probably benign	0.31
R6969:Olfr1350	UTSW	7	6570321	missense	probably damaging	1.00
R7061:Olfr1350	UTSW	7	6570783	missense	probably damaging	1.00
R7286:Olfr1350	UTSW	7	6570716	missense	probably damaging	1.00
R7510:Olfr1350	UTSW	7	6569961	start gained	probably benign
V1662:Olfr1350	UTSW	7	6570819	missense	probably damaging	1.00
Z1176:Olfr1350	UTSW	7	6570048	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGAGTTCTCAGACCTGTGTGTCC -3'
(R):5'- CGCAGAGCTGCTTTCATGTCCTTG -3'

Sequencing Primer
(F):5'- TGGGTCAGTGGACTCCTC -3'
(R):5'- TTCAGAGTTGGCATGAGGATAG -3'

Posted On

2013-06-11