Mutagenetix > Incidental Mutation

Incidental Mutation 'R0118:Or9q1'

20952

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

038404-MU

Accession Numbers

Essential gene?

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

Stock #

R0118 (G1)

Quality Score

221

Status

Validated (trace)

Chromosome

Chromosomal Location

13804823-13805758 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13804929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 277 (F277S)

Ref Sequence

ENSEMBL: ENSMUSP00000151471 (fasta)

Gene Model

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

AlphaFold

Q7TQQ3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067670
AA Change: F277S

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000067303
Gene: ENSMUSG00000054526
AA Change: F277S

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

possibly damaging
Transcript: ENSMUST00000214475
AA Change: F277S

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214579

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215760
AA Change: F277S

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216287
AA Change: F277S

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217079
AA Change: F277S

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219674
AA Change: F277S

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.8%
3x: 97.2%
10x: 89.3%
20x: 67.4%

Validation Efficiency

98% (50/51)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts15	T	C	9: 30,823,040 (GRCm39)	R343G	probably damaging	Het
Asxl2	T	G	12: 3,546,923 (GRCm39)	V569G	probably damaging	Het
Azin2	A	C	4: 128,843,430 (GRCm39)	H85Q	probably damaging	Het
Cacna1a	C	T	8: 85,262,712 (GRCm39)	R324C	probably damaging	Het
Ccr3	C	A	9: 123,829,647 (GRCm39)	Y327*	probably null	Het
Cers2	T	C	3: 95,227,537 (GRCm39)	F55S	probably benign	Het
Cic	C	T	7: 24,985,459 (GRCm39)	S301L	probably damaging	Het
Cntnap2	T	C	6: 45,037,326 (GRCm39)		probably null	Het
Cpn2	T	C	16: 30,079,186 (GRCm39)	R172G	probably benign	Het
Ctdnep1	T	C	11: 69,879,557 (GRCm39)		probably null	Het
Dennd3	T	A	15: 73,436,925 (GRCm39)	Y1051N	probably damaging	Het
Dmap1	T	G	4: 117,533,680 (GRCm39)	Y196S	probably damaging	Het
Entpd7	G	A	19: 43,692,751 (GRCm39)	W102*	probably null	Het
Frem2	A	T	3: 53,442,664 (GRCm39)	C2624*	probably null	Het
Gdpd3	A	G	7: 126,370,165 (GRCm39)	Y238C	probably damaging	Het
Gjb3	A	G	4: 127,220,451 (GRCm39)	V27A	probably damaging	Het
Kat6b	T	C	14: 21,720,042 (GRCm39)	F1465L	probably damaging	Het
Klra17	A	T	6: 129,808,552 (GRCm39)	M227K	probably benign	Het
Map6	A	G	7: 98,966,824 (GRCm39)	D348G	possibly damaging	Het
Mapkbp1	T	C	2: 119,855,696 (GRCm39)	S1472P	probably benign	Het
Megf6	C	A	4: 154,339,098 (GRCm39)	P545Q	probably damaging	Het
Mertk	C	T	2: 128,601,086 (GRCm39)	R357W	probably damaging	Het
Mesd	T	A	7: 83,544,835 (GRCm39)	I104N	probably damaging	Het
Mrm3	T	A	11: 76,140,781 (GRCm39)	V263E	possibly damaging	Het
Ndst4	T	A	3: 125,405,210 (GRCm39)	Y488*	probably null	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Nfs1	T	C	2: 155,976,444 (GRCm39)	H150R	probably damaging	Het
Odad3	A	T	9: 21,906,353 (GRCm39)	N224K	probably benign	Het
Or1n1b	A	G	2: 36,780,035 (GRCm39)	M275T	probably benign	Het
Or8b56	T	C	9: 38,739,154 (GRCm39)	S50P	possibly damaging	Het
Or8g19	T	A	9: 39,055,399 (GRCm39)	M1K	probably null	Het
Pcdh8	T	C	14: 80,004,848 (GRCm39)	Y1059C	probably damaging	Het
Pik3r5	T	A	11: 68,381,306 (GRCm39)	L164Q	probably damaging	Het
Polr3g	T	C	13: 81,824,240 (GRCm39)		probably benign	Het
Ppm1e	T	A	11: 87,122,564 (GRCm39)	K464N	probably benign	Het
Rims1	T	C	1: 22,416,631 (GRCm39)	T1037A	probably damaging	Het
Rpgrip1l	A	T	8: 91,996,750 (GRCm39)	I108N	probably damaging	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,127,419 (GRCm39)		probably benign	Het
Spem1	T	C	11: 69,712,371 (GRCm39)	K98E	possibly damaging	Het
St7l	T	C	3: 104,796,619 (GRCm39)	V237A	probably damaging	Het
Tbc1d16	T	C	11: 119,048,642 (GRCm39)	H337R	probably damaging	Het
Tbc1d32	T	A	10: 55,893,701 (GRCm39)	I1291F	probably benign	Het
Tnfaip6	G	T	2: 51,933,827 (GRCm39)	E61*	probably null	Het
Trib2	A	T	12: 15,843,929 (GRCm39)	W102R	probably damaging	Het
Uimc1	G	T	13: 55,233,457 (GRCm39)	N66K	probably damaging	Het
Vmn1r63	T	A	7: 5,805,838 (GRCm39)	T265S	probably benign	Het
Vps35	G	A	8: 86,021,582 (GRCm39)	T3I	probably benign	Het
Yeats2	T	A	16: 19,975,692 (GRCm39)	L63*	probably null	Het
Zfp282	A	G	6: 47,869,866 (GRCm39)	R304G	probably benign	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
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
R2883:Or9q1	UTSW	19	13,805,239 (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'- AGCCCTGCCACATTTAGATTGCAC -3'
(R):5'- GGACAATCTCAGCATTCACCCTCTC -3'

Sequencing Primer
(F):5'- TGTCCTGAGAGCCATAGTCCAG -3'
(R):5'- ACCTGTGGTGAGAGCTATATCC -3'

Posted On

2013-04-11