Mutagenetix > Incidental Mutation

Incidental Mutation 'R1780:Or9s27'

197416

Institutional Source

Beutler Lab

Gene Symbol

Or9s27

Ensembl Gene

ENSMUSG00000046300

Gene Name

olfactory receptor family 9 subfamily S member 27

Synonyms

MOR208-4, Olfr1412, GA_x6K02T2R7CC-81165686-81164721

MMRRC Submission

039811-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R1780 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92516054-92517019 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 92516111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 20 (V20M)

Ref Sequence

ENSEMBL: ENSMUSP00000150943 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062964] [ENSMUST00000190505]

AlphaFold

Q8VET3

Predicted Effect

probably benign
Transcript: ENSMUST00000062964
AA Change: V20M

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000060291
Gene: ENSMUSG00000046300
AA Change: V20M

Domain	Start	End	E-Value	Type
transmembrane domain	10	27	N/A	INTRINSIC
Pfam:7tm_4	38	314	7.8e-47	PFAM
Pfam:7tm_1	48	321	1.4e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190505
AA Change: V20M

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204141

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.3%

Validation Efficiency

98% (80/82)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,558,229 (GRCm39)	E493G	probably damaging	Het
Aff3	A	T	1: 38,574,783 (GRCm39)	S66T	probably damaging	Het
Ankrd17	T	A	5: 90,380,274 (GRCm39)	K2470N	probably damaging	Het
Ap3m1	T	C	14: 21,091,138 (GRCm39)	T156A	probably benign	Het
Arhgef4	T	A	1: 34,763,241 (GRCm39)	S832R	possibly damaging	Het
Asb10	T	C	5: 24,738,674 (GRCm39)	D423G	possibly damaging	Het
Ash1l	A	G	3: 88,873,291 (GRCm39)	T25A	probably benign	Het
Atp13a2	T	A	4: 140,729,771 (GRCm39)	L663I	possibly damaging	Het
Atp9b	A	T	18: 80,820,112 (GRCm39)	Y174*	probably null	Het
Bche	A	G	3: 73,607,953 (GRCm39)	I491T	probably benign	Het
Bckdhb	T	C	9: 83,835,836 (GRCm39)		probably null	Het
Cadps2	C	T	6: 23,320,931 (GRCm39)		probably null	Het
Cdc42bpb	A	T	12: 111,289,341 (GRCm39)	V468E	probably damaging	Het
Chrnd	T	C	1: 87,120,270 (GRCm39)	V33A	possibly damaging	Het
Col6a5	A	T	9: 105,814,077 (GRCm39)	V645D	unknown	Het
Cpa1	C	T	6: 30,643,007 (GRCm39)	L312F	probably damaging	Het
Cyp2a5	A	G	7: 26,541,301 (GRCm39)		probably benign	Het
Cyp2c39	C	A	19: 39,527,295 (GRCm39)		probably benign	Het
Cyp2d26	T	C	15: 82,678,208 (GRCm39)	N56S	probably damaging	Het
Ddx21	A	G	10: 62,429,926 (GRCm39)		probably benign	Het
Dnah11	A	T	12: 117,991,293 (GRCm39)	C2358S	probably damaging	Het
Entpd8	T	C	2: 24,974,318 (GRCm39)	S368P	probably benign	Het
Epg5	A	T	18: 78,067,205 (GRCm39)	Q2222L	probably damaging	Het
Ercc5	T	A	1: 44,206,956 (GRCm39)	V623E	probably benign	Het
Flg2	A	G	3: 93,110,306 (GRCm39)	E778G	unknown	Het
Gbe1	C	T	16: 70,292,212 (GRCm39)	R515*	probably null	Het
Hsd17b6	A	G	10: 127,830,196 (GRCm39)		probably null	Het
Hyal6	C	T	6: 24,734,031 (GRCm39)		probably benign	Het
Ifi27l2b	A	G	12: 103,417,578 (GRCm39)	I203T	probably damaging	Het
Kcnk9	A	C	15: 72,384,250 (GRCm39)	D309E	unknown	Het
Lrp6	C	T	6: 134,441,414 (GRCm39)	R1184Q	probably damaging	Het
Mdn1	T	C	4: 32,700,103 (GRCm39)	F1399L	probably damaging	Het
Mroh2a	C	T	1: 88,158,402 (GRCm39)	R150*	probably null	Het
Mx1	T	C	16: 97,252,712 (GRCm39)	*289W	probably null	Het
Myo7b	T	C	18: 32,094,238 (GRCm39)	E1970G	probably damaging	Het
Mypn	T	C	10: 62,957,743 (GRCm39)	Y24C	probably damaging	Het
Naxe	G	C	3: 87,964,440 (GRCm39)	P167A	probably benign	Het
Nmnat2	A	T	1: 152,988,186 (GRCm39)	K272*	probably null	Het
Nmnat3	C	T	9: 98,236,164 (GRCm39)	T19M	probably damaging	Het
Or4f52	T	C	2: 111,062,043 (GRCm39)	I32V	probably benign	Het
Or51b17	A	T	7: 103,542,762 (GRCm39)	F60Y	probably damaging	Het
Or51b4	A	G	7: 103,530,799 (GRCm39)	V217A	probably benign	Het
Or5b118	A	G	19: 13,448,726 (GRCm39)	T131A	probably benign	Het
Pgm3	T	G	9: 86,438,257 (GRCm39)	E509D	probably damaging	Het
Phf3	A	T	1: 30,851,023 (GRCm39)	D1110E	probably damaging	Het
Pkd1	T	G	17: 24,800,543 (GRCm39)	S3062A	probably benign	Het
Pogz	A	T	3: 94,777,437 (GRCm39)	K372N	possibly damaging	Het
Pou1f1	A	G	16: 65,320,356 (GRCm39)	Y15C	probably benign	Het
Ppfia2	A	G	10: 106,732,368 (GRCm39)	T972A	possibly damaging	Het
Rasip1	A	G	7: 45,284,742 (GRCm39)	Y703C	possibly damaging	Het
Recql	T	A	6: 142,310,324 (GRCm39)	Q502L	probably benign	Het
Rgs9	A	T	11: 109,130,325 (GRCm39)	Y383*	probably null	Het
Rimbp3	T	C	16: 17,030,496 (GRCm39)	S1307P	probably benign	Het
Rspo1	A	G	4: 124,901,538 (GRCm39)	T200A	probably damaging	Het
Ryr3	C	T	2: 112,697,637 (GRCm39)	M922I	probably damaging	Het
Samm50	C	T	15: 84,095,328 (GRCm39)	A438V	probably damaging	Het
Sec1	A	C	7: 45,328,256 (GRCm39)	S264A	probably benign	Het
Sec31a	A	T	5: 100,529,195 (GRCm39)		probably null	Het
Slc13a3	T	C	2: 165,248,619 (GRCm39)	N553S	unknown	Het
Smg6	T	A	11: 74,836,942 (GRCm39)	L852Q	probably damaging	Het
Spata13	A	G	14: 60,929,174 (GRCm39)	N244S	probably damaging	Het
Srbd1	T	C	17: 86,365,113 (GRCm39)	R648G	probably damaging	Het
Sugct	T	G	13: 17,627,039 (GRCm39)		probably null	Het
Tmed10	A	G	12: 85,401,653 (GRCm39)	Y85H	probably damaging	Het
Trim68	A	G	7: 102,333,280 (GRCm39)	I134T	possibly damaging	Het
Trio	A	G	15: 27,744,124 (GRCm39)	C2603R	possibly damaging	Het
Tspyl3	G	A	2: 153,067,176 (GRCm39)	R21W	probably damaging	Het
Ttn	T	C	2: 76,641,043 (GRCm39)	I11863V	probably null	Het
Ubp1	G	A	9: 113,793,647 (GRCm39)	A283T	possibly damaging	Het
Ubtf	A	T	11: 102,205,744 (GRCm39)	F60L	probably damaging	Het
Vmn1r235	T	C	17: 21,481,999 (GRCm39)	I108T	probably benign	Het
Vmn2r125	T	C	4: 156,703,668 (GRCm39)	S349P	probably damaging	Het
Vmn2r25	A	G	6: 123,805,424 (GRCm39)	S478P	probably damaging	Het
Vmn2r88	T	A	14: 51,656,029 (GRCm39)	V746D	probably damaging	Het
Zcwpw1	A	G	5: 137,794,914 (GRCm39)	K37E	probably damaging	Het
Zdhhc24	T	C	19: 4,933,794 (GRCm39)	S284P	probably damaging	Het
Zswim8	C	A	14: 20,766,395 (GRCm39)	H841N	probably damaging	Het

Other mutations in Or9s27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Or9s27	APN	1	92,516,694 (GRCm39)	missense	possibly damaging	0.52
IGL02177:Or9s27	APN	1	92,516,479 (GRCm39)	missense	possibly damaging	0.96
IGL02507:Or9s27	APN	1	92,516,648 (GRCm39)	missense	possibly damaging	0.68
IGL02888:Or9s27	APN	1	92,516,925 (GRCm39)	missense	probably damaging	1.00
IGL03001:Or9s27	APN	1	92,516,273 (GRCm39)	missense	probably damaging	1.00
R1771:Or9s27	UTSW	1	92,516,837 (GRCm39)	missense	probably benign	0.03
R2215:Or9s27	UTSW	1	92,516,708 (GRCm39)	missense	probably benign	0.00
R2437:Or9s27	UTSW	1	92,516,688 (GRCm39)	missense	possibly damaging	0.46
R3176:Or9s27	UTSW	1	92,516,535 (GRCm39)	missense	probably benign	0.32
R3177:Or9s27	UTSW	1	92,516,535 (GRCm39)	missense	probably benign	0.32
R3276:Or9s27	UTSW	1	92,516,535 (GRCm39)	missense	probably benign	0.32
R3277:Or9s27	UTSW	1	92,516,535 (GRCm39)	missense	probably benign	0.32
R4475:Or9s27	UTSW	1	92,516,301 (GRCm39)	missense	probably benign	0.00
R4892:Or9s27	UTSW	1	92,516,643 (GRCm39)	missense	probably benign	0.05
R5910:Or9s27	UTSW	1	92,516,429 (GRCm39)	missense	probably damaging	1.00
R6808:Or9s27	UTSW	1	92,516,768 (GRCm39)	missense	probably damaging	0.99
R7130:Or9s27	UTSW	1	92,516,634 (GRCm39)	missense	probably benign	0.10
R7476:Or9s27	UTSW	1	92,516,986 (GRCm39)	missense	probably benign
R9695:Or9s27	UTSW	1	92,516,595 (GRCm39)	missense	probably benign	0.01
Z1088:Or9s27	UTSW	1	92,516,273 (GRCm39)	missense	probably damaging	1.00
Z1177:Or9s27	UTSW	1	92,516,100 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGAGAGTCACTCAATGCAGAAACCC -3'
(R):5'- GGTCATAGGCCATCACAGCAAGAAG -3'

Sequencing Primer
(F):5'- TCAGAGGAGATACCCTCTTTCAG -3'
(R):5'- GAAGTAAAGCCTCACTTGTTCC -3'

Posted On

2014-05-23