Mutagenetix > Incidental Mutation

Incidental Mutation 'R1700:Olfr1111'

189624

Institutional Source

Beutler Lab

Gene Symbol

Olfr1111

Ensembl Gene

ENSMUSG00000075158

Gene Name

olfactory receptor 1111

Synonyms

MOR181-2, GA_x6K02T2Q125-48635468-48634530

MMRRC Submission

039733-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

R1700 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87149181-87152624 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 87149779 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 294 (N294T)

Ref Sequence

ENSEMBL: ENSMUSP00000150760 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099860] [ENSMUST00000214492] [ENSMUST00000216378]

AlphaFold

Q7TR55

Predicted Effect

probably damaging
Transcript: ENSMUST00000099860
AA Change: N294T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097446
Gene: ENSMUSG00000075158
AA Change: N294T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	2.2e-54	PFAM
Pfam:7tm_1	41	290	7e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214492
AA Change: N294T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216378
AA Change: N294T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	G	A	2: 130,709,938 (GRCm38)	L1010F	probably damaging	Het
Abcb1b	T	C	5: 8,849,537 (GRCm38)	F936L	probably benign	Het
Adamts12	T	A	15: 11,152,057 (GRCm38)	I211N	probably benign	Het
Adamts16	G	A	13: 70,779,518 (GRCm38)		probably benign	Het
Alas1	C	T	9: 106,239,646 (GRCm38)	V293I	possibly damaging	Het
Ap1g1	T	C	8: 109,853,612 (GRCm38)	Y569H	probably damaging	Het
Apc2	A	G	10: 80,312,769 (GRCm38)	D1190G	probably damaging	Het
Astn2	G	A	4: 65,746,354 (GRCm38)	Q679*	probably null	Het
Atp2a1	T	A	7: 126,462,909 (GRCm38)	H5L	probably damaging	Het
Baiap3	T	C	17: 25,249,328 (GRCm38)	K279E	probably damaging	Het
C2cd2l	G	A	9: 44,316,612 (GRCm38)	P111S	probably benign	Het
C7	T	A	15: 5,002,792 (GRCm38)	K646*	probably null	Het
Ccp110	C	T	7: 118,735,313 (GRCm38)	T1003I	probably damaging	Het
Cdh22	T	C	2: 165,170,796 (GRCm38)	D123G	probably damaging	Het
Cep295	C	T	9: 15,340,883 (GRCm38)	E397K	probably damaging	Het
Clip1	A	G	5: 123,630,370 (GRCm38)	V722A	probably benign	Het
Cpsf4l	A	G	11: 113,702,075 (GRCm38)	F174S	probably benign	Het
Ctnna3	T	C	10: 63,852,772 (GRCm38)	C332R	probably damaging	Het
Cxcl10	A	T	5: 92,347,855 (GRCm38)	N76K	probably damaging	Het
Dnaja3	G	A	16: 4,684,165 (GRCm38)	R11K	probably null	Het
Efcab10	A	G	12: 33,395,171 (GRCm38)	T28A	possibly damaging	Het
Esrrg	A	G	1: 188,043,653 (GRCm38)	R103G	probably damaging	Het
Exosc2	A	G	2: 31,670,806 (GRCm38)	K23E	probably benign	Het
Flot2	C	T	11: 78,049,547 (GRCm38)	S40L	possibly damaging	Het
Fsip2	T	C	2: 82,991,737 (GRCm38)	V5938A	probably benign	Het
Gclc	A	G	9: 77,776,289 (GRCm38)	T143A	probably benign	Het
Gpr37	A	G	6: 25,669,624 (GRCm38)	V407A	probably benign	Het
Gucy2e	A	T	11: 69,232,058 (GRCm38)	M497K	probably benign	Het
Herc1	T	A	9: 66,450,678 (GRCm38)		probably null	Het
Hnrnpll	A	C	17: 80,034,105 (GRCm38)	S502A	probably benign	Het
Ipo11	G	T	13: 106,795,662 (GRCm38)	T975N	probably benign	Het
Kif17	C	T	4: 138,262,698 (GRCm38)	Q66*	probably null	Het
Lrp10	T	C	14: 54,469,752 (GRCm38)	V682A	possibly damaging	Het
Lsmem1	A	T	12: 40,180,678 (GRCm38)	L75Q	probably damaging	Het
Med16	A	T	10: 79,899,335 (GRCm38)	Y430N	probably benign	Het
Med8	C	T	4: 118,412,734 (GRCm38)	S72L	possibly damaging	Het
Mex3a	A	G	3: 88,536,375 (GRCm38)	T253A	probably damaging	Het
Myf6	T	C	10: 107,493,359 (GRCm38)	K242E	probably damaging	Het
Ncald	T	A	15: 37,397,343 (GRCm38)	Y31F	probably benign	Het
Ndufa12	T	A	10: 94,199,993 (GRCm38)	Y48N	probably damaging	Het
Olfr1145	T	C	2: 87,810,768 (GRCm38)	V316A	probably benign	Het
Olfr638	T	A	7: 104,004,122 (GRCm38)	Y282*	probably null	Het
Pde4dip	T	C	3: 97,703,323 (GRCm38)	T1858A	probably benign	Het
Pgbd1	A	G	13: 21,434,481 (GRCm38)	L2P	probably damaging	Het
Piezo1	C	T	8: 122,487,502 (GRCm38)	R1642H	probably damaging	Het
Plxna1	A	T	6: 89,357,008 (GRCm38)	M213K	probably damaging	Het
Polr1b	A	G	2: 129,123,121 (GRCm38)	N709S	probably damaging	Het
Pramel1	T	A	4: 143,398,429 (GRCm38)	W308R	probably damaging	Het
Prkag2	A	T	5: 24,871,541 (GRCm38)	I208N	probably damaging	Het
Ptpro	T	A	6: 137,443,594 (GRCm38)	V1007D	probably damaging	Het
Rngtt	T	A	4: 33,330,864 (GRCm38)	F156I	probably damaging	Het
Rpusd3	A	G	6: 113,415,533 (GRCm38)	*345Q	probably null	Het
Rrp1b	A	G	17: 32,057,204 (GRCm38)	K575R	probably benign	Het
Shd	G	A	17: 55,974,307 (GRCm38)	V250I	probably damaging	Het
Slc12a5	C	A	2: 164,992,376 (GRCm38)	N749K	possibly damaging	Het
Sorbs2	T	A	8: 45,800,984 (GRCm38)	V488D	probably damaging	Het
Sphkap	G	A	1: 83,277,515 (GRCm38)	R838*	probably null	Het
Srsf4	C	A	4: 131,900,560 (GRCm38)		probably benign	Het
Strn	T	C	17: 78,692,402 (GRCm38)	Y135C	probably damaging	Het
Synm	T	C	7: 67,759,628 (GRCm38)	M1V	probably null	Het
Tas1r3	T	G	4: 155,861,570 (GRCm38)	Q489P	probably benign	Het
Tas2r103	A	T	6: 133,036,811 (GRCm38)	N97K	probably damaging	Het
Tas2r113	A	G	6: 132,893,792 (GRCm38)	Y261C	possibly damaging	Het
Tex21	T	C	12: 76,221,672 (GRCm38)	E112G	probably damaging	Het
Trappc8	T	C	18: 20,832,998 (GRCm38)	S1128G	probably damaging	Het
Ubap1l	A	G	9: 65,371,743 (GRCm38)		probably benign	Het
Ubash3a	A	G	17: 31,215,044 (GRCm38)	D121G	probably damaging	Het
Ubxn4	A	G	1: 128,252,286 (GRCm38)	I56V	possibly damaging	Het
Uri1	T	C	7: 37,963,524 (GRCm38)	I348M	probably damaging	Het
Usp21	C	A	1: 171,283,722 (GRCm38)	L379F	probably damaging	Het
Vmn1r159	T	A	7: 22,842,965 (GRCm38)	H214L	probably damaging	Het
Zdbf2	A	G	1: 63,302,741 (GRCm38)	E93G	unknown	Het

Other mutations in Olfr1111

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01023:Olfr1111	APN	2	87,149,825 (GRCm38)	missense	possibly damaging	0.53
IGL02217:Olfr1111	APN	2	87,149,887 (GRCm38)	missense	probably benign	0.00
R0789:Olfr1111	UTSW	2	87,149,827 (GRCm38)	missense	probably damaging	1.00
R1437:Olfr1111	UTSW	2	87,149,771 (GRCm38)	missense	possibly damaging	0.94
R1696:Olfr1111	UTSW	2	87,150,380 (GRCm38)	missense	probably benign	0.00
R1717:Olfr1111	UTSW	2	87,149,806 (GRCm38)	nonsense	probably null
R4965:Olfr1111	UTSW	2	87,150,659 (GRCm38)	start codon destroyed	possibly damaging	0.89
R5221:Olfr1111	UTSW	2	87,150,481 (GRCm38)	missense	probably damaging	1.00
R5297:Olfr1111	UTSW	2	87,150,449 (GRCm38)	missense	probably benign	0.01
R5837:Olfr1111	UTSW	2	87,150,355 (GRCm38)	missense	probably benign	0.02
R6544:Olfr1111	UTSW	2	87,149,863 (GRCm38)	missense	probably damaging	1.00
R6911:Olfr1111	UTSW	2	87,149,767 (GRCm38)	missense	probably damaging	1.00
R8537:Olfr1111	UTSW	2	87,150,038 (GRCm38)	missense	probably benign	0.02
R8969:Olfr1111	UTSW	2	87,150,584 (GRCm38)	missense	probably benign
R9747:Olfr1111	UTSW	2	87,150,554 (GRCm38)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- GGAAAATTCTATGGTGAGTGTTGATGTAGGAG -3'
(R):5'- TCCACAGGAGGCAGGAGCAA -3'

Sequencing Primer
(F):5'- tcttgcacaaaacaatttgaagac -3'
(R):5'- GAGCAAAACATTTTCCACTTGTGC -3'

Posted On

2014-05-14