Mutagenetix > Incidental Mutation

Incidental Mutation 'R1524:Or9q1'

167754

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

039565-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R1524 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13804823-13805758 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13805679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 27 (L27H)

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: L27H

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

SMART Domains

Protein: ENSMUSP00000067303
Gene: ENSMUSG00000054526
AA Change: L27H

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: L27H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214579

Predicted Effect

probably damaging
Transcript: ENSMUST00000215760
AA Change: L27H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000216287
AA Change: L27H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000217079
AA Change: L27H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000219674
AA Change: L27H

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

Meta Mutation Damage Score

0.3759

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

97% (68/70)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	G	T	5: 88,119,548 (GRCm39)	V102L	probably benign	Het
Adck1	T	C	12: 88,368,854 (GRCm39)	Y111H	probably damaging	Het
Adcy10	G	T	1: 165,345,972 (GRCm39)	K340N	probably damaging	Het
Aebp1	T	C	11: 5,820,089 (GRCm39)	V355A	probably damaging	Het
Atp2b2	T	C	6: 113,751,162 (GRCm39)		probably benign	Het
Atrn	T	C	2: 130,799,000 (GRCm39)	V390A	probably benign	Het
Bpifc	T	A	10: 85,813,599 (GRCm39)	Q315L	probably benign	Het
C1qtnf6	T	G	15: 78,409,092 (GRCm39)		probably null	Het
Cab39l	A	G	14: 59,757,186 (GRCm39)		probably benign	Het
Capn12	T	A	7: 28,582,189 (GRCm39)		probably benign	Het
Ceacam18	A	C	7: 43,288,779 (GRCm39)	T177P	possibly damaging	Het
Ces5a	A	T	8: 94,252,293 (GRCm39)	F200I	probably damaging	Het
Cldn19	G	T	4: 119,114,248 (GRCm39)		probably null	Het
Cntnap2	A	G	6: 46,507,613 (GRCm39)	S46P	probably damaging	Het
Dchs1	A	G	7: 105,413,732 (GRCm39)	Y1028H	probably damaging	Het
Exd1	A	T	2: 119,355,155 (GRCm39)	F253L	probably damaging	Het
Fam161a	A	G	11: 22,965,826 (GRCm39)	N40D	possibly damaging	Het
Fam81a	A	T	9: 70,032,390 (GRCm39)	I34N	probably damaging	Het
Fchsd1	A	C	18: 38,098,950 (GRCm39)		probably null	Het
Fut11	T	A	14: 20,746,234 (GRCm39)	F359I	possibly damaging	Het
Fut7	T	C	2: 25,315,159 (GRCm39)	V92A	probably damaging	Het
Grid2	C	G	6: 64,406,738 (GRCm39)	F699L	possibly damaging	Het
Grin2a	A	G	16: 9,481,467 (GRCm39)	S445P	possibly damaging	Het
H2al2b	A	C	Y: 2,720,391 (GRCm39)	F95C	probably damaging	Het
Hecw2	T	C	1: 53,890,777 (GRCm39)	D1246G	probably damaging	Het
Ifit1	A	G	19: 34,625,032 (GRCm39)	N56S	probably damaging	Het
Ldb3	C	A	14: 34,277,313 (GRCm39)	V354L	probably benign	Het
Lrig2	T	C	3: 104,371,192 (GRCm39)	Y479C	probably benign	Het
Ltn1	A	G	16: 87,178,444 (GRCm39)	V1595A	probably damaging	Het
Macf1	A	G	4: 123,326,323 (GRCm39)	V2939A	possibly damaging	Het
Mapre3	T	G	5: 31,019,261 (GRCm39)	I35S	probably damaging	Het
Med16	A	T	10: 79,734,150 (GRCm39)	L588Q	probably damaging	Het
Ncapg2	T	C	12: 116,398,198 (GRCm39)		probably benign	Het
Ncstn	C	A	1: 171,899,716 (GRCm39)	R322L	possibly damaging	Het
Ndst1	A	T	18: 60,831,576 (GRCm39)	I594N	probably damaging	Het
Ndst3	A	G	3: 123,342,555 (GRCm39)	I752T	possibly damaging	Het
Obscn	G	T	11: 59,006,681 (GRCm39)	S1185R	probably damaging	Het
Or5b112	T	A	19: 13,319,486 (GRCm39)	C121*	probably null	Het
Or6aa1	A	G	7: 86,044,020 (GRCm39)	S229P	probably benign	Het
Otof	T	A	5: 30,536,900 (GRCm39)	D1285V	probably benign	Het
Pcnx2	A	G	8: 126,617,880 (GRCm39)	I125T	probably benign	Het
Pde4a	T	C	9: 21,112,543 (GRCm39)	S240P	probably damaging	Het
Pi15	T	C	1: 17,690,076 (GRCm39)	S126P	probably benign	Het
Pkhd1	T	C	1: 20,188,004 (GRCm39)	S3435G	probably damaging	Het
Plin1	C	A	7: 79,376,338 (GRCm39)	V133L	probably benign	Het
Pnpt1	T	A	11: 29,080,776 (GRCm39)	C7S	unknown	Het
Ppp3ca	A	T	3: 136,503,579 (GRCm39)	M51L	probably benign	Het
Primpol	G	T	8: 47,039,502 (GRCm39)		probably benign	Het
Prlr	T	C	15: 10,319,419 (GRCm39)	V116A	probably damaging	Het
Ptgr3	A	G	18: 84,112,831 (GRCm39)	E169G	probably benign	Het
Rnf139	A	G	15: 58,761,266 (GRCm39)	D35G	probably damaging	Het
Rsbn1l	T	A	5: 21,156,671 (GRCm39)	K38M	probably damaging	Het
Ryr3	T	A	2: 112,699,427 (GRCm39)	I888F	probably damaging	Het
Sec16a	C	A	2: 26,318,394 (GRCm39)	V1566F	probably damaging	Het
Sin3b	A	G	8: 73,479,915 (GRCm39)	T874A	probably benign	Het
Skic3	T	A	13: 76,286,491 (GRCm39)	D891E	probably benign	Het
Slc5a5	A	C	8: 71,344,978 (GRCm39)	Y110D	probably damaging	Het
Smarcd2	C	T	11: 106,157,978 (GRCm39)	V97I	probably benign	Het
St6galnac2	G	A	11: 116,575,313 (GRCm39)		probably benign	Het
Tbc1d22b	T	C	17: 29,789,585 (GRCm39)	L149P	probably damaging	Het
Tekt2	T	C	4: 126,217,442 (GRCm39)	I208V	probably benign	Het
Tenm3	A	G	8: 48,682,016 (GRCm39)	I2522T	possibly damaging	Het
Ttll5	T	A	12: 85,911,342 (GRCm39)	Y233*	probably null	Het
Vcpip1	C	T	1: 9,794,727 (GRCm39)	E1215K	probably damaging	Het
Wdr4	T	C	17: 31,728,737 (GRCm39)		probably benign	Het
Zfp703	G	A	8: 27,469,401 (GRCm39)	G355D	probably damaging	Het
Zfp830	T	A	11: 82,655,794 (GRCm39)	D199E	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
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'- AGCACAGCCATTGTCTGAGGAAC -3'
(R):5'- AGACGCTCAAATGCACGGTAGG -3'

Sequencing Primer
(F):5'- CCATTGTCTGAGGAACAGTGAC -3'
(R):5'- CCTCTCTTGAAGGCAGGAATTAG -3'

Posted On

2014-04-13