Mutagenetix > Incidental Mutation

Incidental Mutation 'R2883:Or9q1'

260944

Institutional Source

Beutler Lab

Gene Symbol

Or9q1

Ensembl Gene

ENSMUSG00000054526

Gene Name

olfactory receptor family 9 subfamily Q member 1

Synonyms

Olfr1500, GA_x6K02T2RE5P-4160554-4159619, MOR212-4P

MMRRC Submission

040471-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R2883 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13804823-13805758 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13805239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 174 (I174F)

Ref Sequence

ENSEMBL: ENSMUSP00000151471 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067670] [ENSMUST00000214475] [ENSMUST00000215760] [ENSMUST00000216287] [ENSMUST00000217079] [ENSMUST00000219674]

AlphaFold

Q7TQQ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000067670
AA Change: I174F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000067303
Gene: ENSMUSG00000054526
AA Change: I174F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	9.8e-48	PFAM
Pfam:7TM_GPCR_Srsx	35	220	9.5e-9	PFAM
Pfam:7tm_1	41	290	4.1e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214475
AA Change: I174F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214579

Predicted Effect

probably damaging
Transcript: ENSMUST00000215760
AA Change: I174F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216287
AA Change: I174F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217079
AA Change: I174F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000219674
AA Change: I174F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B08Rik	G	A	8: 122,266,644 (GRCm39)	P81S	probably damaging	Het
Arhgef10l	T	C	4: 140,244,113 (GRCm39)	Q790R	probably benign	Het
Asic2	T	A	11: 80,784,839 (GRCm39)	I367F	possibly damaging	Het
Asxl2	T	C	12: 3,551,830 (GRCm39)	S1191P	probably benign	Het
Bod1l	A	G	5: 41,989,602 (GRCm39)	S374P	probably benign	Het
C1qtnf7	T	A	5: 43,773,222 (GRCm39)	F167I	probably damaging	Het
Cimip3	C	A	17: 47,747,650 (GRCm39)	V32F	probably damaging	Het
Col13a1	A	G	10: 61,814,135 (GRCm39)	L94P	probably benign	Het
Cped1	A	T	6: 22,143,978 (GRCm39)	T575S	probably damaging	Het
Cpt1b	T	C	15: 89,302,072 (GRCm39)	Y702C	probably benign	Het
D630039A03Rik	T	A	4: 57,910,560 (GRCm39)	N84I	probably damaging	Het
Dse	A	T	10: 34,028,503 (GRCm39)	D862E	probably benign	Het
Etl4	A	T	2: 20,810,985 (GRCm39)	T1023S	possibly damaging	Het
Fat4	T	A	3: 39,034,953 (GRCm39)	N2868K	probably damaging	Het
Fgd5	G	A	6: 91,964,090 (GRCm39)		probably null	Het
Fsip2	C	T	2: 82,821,868 (GRCm39)	T5867I	possibly damaging	Het
Fuca2	A	G	10: 13,381,695 (GRCm39)	T203A	probably benign	Het
Gli2	T	C	1: 118,795,874 (GRCm39)	I131V	probably damaging	Het
Gtpbp4	A	G	13: 9,040,759 (GRCm39)	V122A	possibly damaging	Het
Kif1b	G	A	4: 149,322,105 (GRCm39)	T938I	possibly damaging	Het
Klhl29	T	C	12: 5,134,036 (GRCm39)	D767G	probably damaging	Het
Mageb3	A	G	2: 121,784,847 (GRCm39)	V285A	probably benign	Het
Myoc	A	G	1: 162,467,185 (GRCm39)	E118G	possibly damaging	Het
Nedd1	A	C	10: 92,530,860 (GRCm39)	F410V	probably damaging	Het
Nipal1	A	T	5: 72,825,073 (GRCm39)	K255N	probably damaging	Het
Npr3	T	C	15: 11,883,410 (GRCm39)	K340E	possibly damaging	Het
Obsl1	C	A	1: 75,473,155 (GRCm39)	G1023C	possibly damaging	Het
Ogdh	T	C	11: 6,284,545 (GRCm39)	L188P	probably damaging	Het
Or51ac3	T	C	7: 103,214,471 (GRCm39)	N5S	probably benign	Het
Or5v1	C	T	17: 37,810,271 (GRCm39)	S243F	probably damaging	Het
Otogl	G	A	10: 107,604,842 (GRCm39)	T2188M	probably damaging	Het
Pck1	G	A	2: 173,000,368 (GRCm39)	V600I	probably benign	Het
Ranbp17	A	G	11: 33,454,708 (GRCm39)	C42R	probably damaging	Het
Rapgef4	G	A	2: 71,861,469 (GRCm39)	R53H	probably benign	Het
Rbm12	G	A	2: 155,938,995 (GRCm39)	H426Y	probably damaging	Het
Retreg2	C	T	1: 75,123,356 (GRCm39)	P428L	probably benign	Het
Rev3l	G	T	10: 39,701,152 (GRCm39)	S1883I	probably damaging	Het
Rinl	CGGG	CGGGGG	7: 28,497,083 (GRCm39)		probably null	Het
Rora	T	C	9: 69,282,717 (GRCm39)	S356P	probably damaging	Het
Slc31a1	T	C	4: 62,307,008 (GRCm39)	V188A	probably damaging	Het
Slc9a3	A	G	13: 74,306,879 (GRCm39)	K335E	probably damaging	Het
Spata22	C	A	11: 73,235,504 (GRCm39)	H274N	possibly damaging	Het
Srrm1	T	C	4: 135,048,722 (GRCm39)		probably benign	Het
Stab2	A	T	10: 86,803,550 (GRCm39)	I333N	possibly damaging	Het
Supt5	A	G	7: 28,028,745 (GRCm39)	Y153H	possibly damaging	Het
Tyk2	T	C	9: 21,021,883 (GRCm39)	T825A	probably benign	Het
Usp20	G	A	2: 30,908,812 (GRCm39)	V798M	probably benign	Het
Wdr26	A	T	1: 181,038,685 (GRCm39)	D102E	probably damaging	Het

Other mutations in Or9q1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02004:Or9q1	APN	19	13,805,427 (GRCm39)	missense	possibly damaging	0.93
IGL03122:Or9q1	APN	19	13,805,014 (GRCm39)	missense	possibly damaging	0.91
R0003:Or9q1	UTSW	19	13,805,050 (GRCm39)	missense	probably damaging	1.00
R0003:Or9q1	UTSW	19	13,805,050 (GRCm39)	missense	probably damaging	1.00
R0118:Or9q1	UTSW	19	13,804,929 (GRCm39)	missense	possibly damaging	0.74
R0458:Or9q1	UTSW	19	13,805,593 (GRCm39)	missense	probably benign	0.01
R0507:Or9q1	UTSW	19	13,805,140 (GRCm39)	missense	possibly damaging	0.49
R0515:Or9q1	UTSW	19	13,805,185 (GRCm39)	missense	probably damaging	0.99
R0907:Or9q1	UTSW	19	13,805,220 (GRCm39)	missense	probably damaging	1.00
R1524:Or9q1	UTSW	19	13,805,679 (GRCm39)	missense	probably damaging	1.00
R4278:Or9q1	UTSW	19	13,805,793 (GRCm39)	start gained	probably benign
R4824:Or9q1	UTSW	19	13,805,718 (GRCm39)	missense	probably damaging	1.00
R4981:Or9q1	UTSW	19	13,805,458 (GRCm39)	missense	probably damaging	1.00
R5785:Or9q1	UTSW	19	13,804,983 (GRCm39)	missense	probably damaging	1.00
R6597:Or9q1	UTSW	19	13,805,821 (GRCm39)	start gained	probably benign
R9790:Or9q1	UTSW	19	13,804,914 (GRCm39)	missense	probably benign	0.00
R9791:Or9q1	UTSW	19	13,804,914 (GRCm39)	missense	probably benign	0.00
Z1176:Or9q1	UTSW	19	13,805,263 (GRCm39)	missense	probably damaging	0.99
Z1177:Or9q1	UTSW	19	13,804,897 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- AGGCACATGTTGAGAAGGTC -3'
(R):5'- ATCGATTGCTACCTCTTGGC -3'

Sequencing Primer
(F):5'- CACATGTTGAGAAGGTCTTGGCC -3'
(R):5'- TGGCTCTCATGGCCTACGAC -3'

Posted On

2015-01-23