Mutagenetix > Incidental Mutations

Incidental Mutation 'R2259:Olfr1350'

243630

Institutional Source

Beutler Lab

Gene Symbol

Olfr1350

Ensembl Gene

ENSMUSG00000056696

Gene Name

olfactory receptor 1350

Synonyms

GA_x6K02T2QGBW-3300391-3301317, MOR222-3

MMRRC Submission

040259-MU

Accession Numbers

Genbank: NM_146389.1

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R2259 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6564841-6571401 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6570023 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 11 (I11F)

Ref Sequence

ENSEMBL: ENSMUSP00000151318 (fasta)

Gene Model

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

AlphaFold

Q8VF34

Predicted Effect

probably damaging
Transcript: ENSMUST00000070985
AA Change: I11F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000069927
Gene: ENSMUSG00000056696
AA Change: I11F

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

probably damaging
Transcript: ENSMUST00000207221
AA Change: I11F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000219278
AA Change: I11F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	G	5: 129,112,311	S91A	possibly damaging	Het
Ankrd13b	T	G	11: 77,476,342	N247T	probably damaging	Het
Atp10b	A	G	11: 43,172,745	D169G	probably damaging	Het
Atp10b	G	A	11: 43,189,613	V239M	probably damaging	Het
Cflar	C	T	1: 58,729,121	T121I	probably benign	Het
Clca3b	T	C	3: 144,846,381	N180D	possibly damaging	Het
Cnbd2	T	A	2: 156,335,272	I62N	probably damaging	Het
Col11a2	A	G	17: 34,039,677	H8R	probably benign	Het
Cyp2a4	C	T	7: 26,309,035	L201F	probably damaging	Het
D630003M21Rik	A	T	2: 158,204,711	L782Q	probably damaging	Het
Dctn1	C	A	6: 83,197,586	H1065N	possibly damaging	Het
Dgcr2	A	T	16: 17,844,977		probably null	Het
Dlg4	T	C	11: 70,031,370	I143T	probably damaging	Het
E2f7	T	G	10: 110,746,343	N4K	probably damaging	Het
Eef2kmt	C	T	16: 5,245,308	V323I	probably benign	Het
Eif2ak4	A	C	2: 118,455,783	I1017L	probably damaging	Het
Eln	C	A	5: 134,729,654	A126S	unknown	Het
Exoc7	T	C	11: 116,306,411	S35G	probably damaging	Het
Fam187a	A	G	11: 102,885,298		probably benign	Het
Fam196a	T	A	7: 134,917,667	E378V	probably damaging	Het
Fkbp6	C	T	5: 135,337,614		probably null	Het
Flnc	G	A	6: 29,438,666	W186*	probably null	Het
Fmn2	T	A	1: 174,502,932	L296H	unknown	Het
Galnt14	C	A	17: 73,494,266	M520I	probably benign	Het
Gba2	A	G	4: 43,570,107	C396R	probably benign	Het
Gigyf1	C	A	5: 137,520,332	A215E	possibly damaging	Het
Glb1	C	T	9: 114,443,032	Q246*	probably null	Het
Gm11565	T	G	11: 99,915,018	C79G	possibly damaging	Het
Gpr160	A	G	3: 30,896,295	Y172C	probably damaging	Het
Ift52	A	G	2: 163,028,093	N159S	probably benign	Het
Insrr	A	G	3: 87,800,452	D67G	probably damaging	Het
Irf2	A	G	8: 46,837,833	Y230C	probably benign	Het
Jmjd6	T	C	11: 116,841,314	H187R	probably damaging	Het
Kdm2b	C	T	5: 122,882,416	G90S	probably damaging	Het
Kif7	C	T	7: 79,711,589	G118D	probably damaging	Het
Klhl38	G	C	15: 58,314,978	T532S	possibly damaging	Het
Kmt2a	G	T	9: 44,881,142		probably benign	Het
Lama2	A	G	10: 27,031,127	L2346S	probably benign	Het
Marveld2	A	G	13: 100,612,470	S34P	probably benign	Het
Mettl7a1	A	T	15: 100,313,168	I174F	probably benign	Het
Mllt6	T	C	11: 97,664,976	V44A	probably damaging	Het
Muc5ac	A	G	7: 141,791,008	N72S	probably benign	Het
Myo7a	T	G	7: 98,069,499	D1388A	probably damaging	Het
Ncapd3	A	G	9: 27,056,072	D568G	probably benign	Het
Ncoa1	A	C	12: 4,315,819	H82Q	probably damaging	Het
Npbwr1	C	A	1: 5,916,658	L212F	probably damaging	Het
Nptx1	T	G	11: 119,543,316	I315L	probably benign	Het
Npy2r	G	T	3: 82,541,354	P38Q	possibly damaging	Het
Ocln	A	T	13: 100,535,029	D24E	probably damaging	Het
Olfr295	T	A	7: 86,585,884	V203D	possibly damaging	Het
Olfr933	T	C	9: 38,976,000	V108A	probably benign	Het
Pde2a	A	T	7: 101,484,567	D85V	probably damaging	Het
Phf3	A	G	1: 30,804,343	V1845A	probably benign	Het
Plch1	T	A	3: 63,697,977	Q1493L	possibly damaging	Het
Pold1	T	C	7: 44,541,484		probably benign	Het
Polq	T	C	16: 37,062,097	V1541A	probably benign	Het
Psmd3	T	A	11: 98,690,964	M305K	probably benign	Het
Pura	T	C	18: 36,287,750	F197L	possibly damaging	Het
Rab3gap2	T	A	1: 185,221,859	W43R	probably damaging	Het
Repin1	A	G	6: 48,596,530	Q128R	probably benign	Het
Rnf208	G	A	2: 25,243,644	V117I	probably damaging	Het
Rpe65	A	G	3: 159,615,571	Y340C	probably damaging	Het
Ryr1	C	A	7: 29,019,741	V4414L	unknown	Het
Sephs2	T	C	7: 127,273,477	E148G	possibly damaging	Het
Spns2	T	A	11: 72,457,268	Q291L	probably benign	Het
Ssc5d	C	T	7: 4,943,916	P1090S	probably benign	Het
Tasp1	A	T	2: 139,951,506	V250D	probably damaging	Het
Tcaf3	A	G	6: 42,591,430	I664T	possibly damaging	Het
Tg	T	C	15: 66,683,898	V813A	probably benign	Het
Tmem132c	T	C	5: 127,504,924	L401P	probably benign	Het
Tmem138	T	C	19: 10,571,603	N101S	probably benign	Het
Tmem242	G	T	17: 5,433,470	A99E	probably damaging	Het
Tmem30a	C	T	9: 79,774,164	R277H	probably benign	Het
Tnni3	T	A	7: 4,519,406	I182F	probably benign	Het
Trim30a	T	A	7: 104,411,504	D355V	probably damaging	Het
Trim35	C	T	14: 66,309,262	R493*	probably null	Het
Trip10	G	C	17: 57,255,135	V254L	probably benign	Het
Tshz2	A	T	2: 169,886,406	Q505L	probably benign	Het
Ttyh1	T	C	7: 4,128,184	V218A	probably damaging	Het
Unc13b	A	T	4: 43,182,780	E3163V	possibly damaging	Het
Unc45b	T	A	11: 82,917,799	M237K	probably benign	Het
Usp8	A	G	2: 126,758,568	T1080A	probably benign	Het
Vmn2r65	T	A	7: 84,940,911	H599L	possibly damaging	Het
Vps13c	A	G	9: 67,953,860	N2891S	probably benign	Het
Xpo5	C	T	17: 46,240,896	Q1050*	probably null	Het
Zfp407	G	T	18: 84,209,793	T1897K	probably damaging	Het
Zzef1	C	T	11: 72,900,633	R2188*	probably null	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
R0558:Olfr1350	UTSW	7	6570653	missense	possibly damaging	0.77
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
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
R9475:Olfr1350	UTSW	7	6570819	missense	probably damaging	1.00
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'- CTCTCCAAAGGCAACAAATTGT -3'
(R):5'- TCCACTAGGGAGAGGTGTTTGA -3'

Sequencing Primer
(F):5'- TGTGCAACAGCCATGTCATG -3'
(R):5'- CCACTAGGGAGAGGTGTTTGATGAAG -3'

Posted On

2014-10-16