Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02507:Or9s27'

296367

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or9s27

Ensembl Gene

ENSMUSG00000046300

Gene Name

olfactory receptor family 9 subfamily S member 27

Synonyms

MOR208-4, Olfr1412, GA_x6K02T2R7CC-81165686-81164721

Accession Numbers

Essential gene?

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

Stock #

IGL02507

Quality Score

Status

Chromosome

Chromosomal Location

92516054-92517019 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92516648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 199 (S199P)

Ref Sequence

ENSEMBL: ENSMUSP00000150943 (fasta)

Gene Model

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

AlphaFold

Q8VET3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062964
AA Change: S199P

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000060291
Gene: ENSMUSG00000046300
AA Change: S199P

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

possibly damaging
Transcript: ENSMUST00000190505
AA Change: S199P

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204141

Coding Region Coverage

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,349,388 (GRCm39)	Y3654C	probably damaging	Het
Aldh1l2	A	C	10: 83,328,448 (GRCm39)	Y756*	probably null	Het
Arhgef12	T	C	9: 42,903,859 (GRCm39)	E733G	probably damaging	Het
Art5	A	T	7: 101,748,699 (GRCm39)	M1K	probably null	Het
Atp1a2	A	T	1: 172,113,338 (GRCm39)	D448E	probably damaging	Het
Atp6v1b1	C	T	6: 83,733,837 (GRCm39)	T356I	possibly damaging	Het
Celsr1	A	G	15: 85,784,889 (GRCm39)		probably benign	Het
Cep89	A	G	7: 35,134,990 (GRCm39)	Y686C	probably damaging	Het
Cgrrf1	T	A	14: 47,090,901 (GRCm39)	Y212*	probably null	Het
Chrnb1	T	C	11: 69,675,916 (GRCm39)	Y442C	probably damaging	Het
Clcn1	T	C	6: 42,284,007 (GRCm39)		probably benign	Het
Clcn7	G	A	17: 25,363,443 (GRCm39)	V40M	probably damaging	Het
Cntn1	A	G	15: 92,148,860 (GRCm39)	Y369C	possibly damaging	Het
Csmd1	T	C	8: 17,584,992 (GRCm39)		probably benign	Het
Dpy19l2	A	T	9: 24,542,563 (GRCm39)	C446S	probably benign	Het
Edem3	G	A	1: 151,687,407 (GRCm39)	E782K	probably benign	Het
Efcab15	T	A	11: 103,090,275 (GRCm39)	Q287L	probably damaging	Het
Ephb3	T	A	16: 21,039,389 (GRCm39)		probably benign	Het
Fndc4	T	C	5: 31,452,090 (GRCm39)	D109G	probably damaging	Het
Fras1	T	C	5: 96,805,267 (GRCm39)	V1303A	possibly damaging	Het
Gcn1	T	C	5: 115,723,940 (GRCm39)	L532P	probably benign	Het
Gm5150	A	G	3: 16,017,485 (GRCm39)	L262P	probably damaging	Het
Hbb-bs	T	C	7: 103,477,091 (GRCm39)		probably benign	Het
Krt74	A	G	15: 101,669,059 (GRCm39)		noncoding transcript	Het
Myo1a	T	C	10: 127,548,478 (GRCm39)	V375A	probably damaging	Het
Nup160	A	T	2: 90,560,079 (GRCm39)	Q1268L	probably benign	Het
Or4k42	G	A	2: 111,319,768 (GRCm39)	T245M	possibly damaging	Het
Or51ag1	G	T	7: 103,155,925 (GRCm39)	S76*	probably null	Het
Or5d16	G	A	2: 87,773,262 (GRCm39)	R237*	probably null	Het
Pan3	T	C	5: 147,463,406 (GRCm39)	S497P	probably damaging	Het
Pex5	T	C	6: 124,390,264 (GRCm39)	T138A	probably benign	Het
Pik3ap1	A	G	19: 41,270,451 (GRCm39)		probably benign	Het
Ptchd4	A	T	17: 42,627,764 (GRCm39)	H75L	possibly damaging	Het
Rag2	A	T	2: 101,461,055 (GRCm39)	H455L	probably damaging	Het
Rergl	T	A	6: 139,470,351 (GRCm39)	E159V	probably damaging	Het
Rrn3	A	G	16: 13,606,721 (GRCm39)	N109S	probably benign	Het
Scn1a	A	T	2: 66,108,157 (GRCm39)	V1523D	probably damaging	Het
Sec23a	A	G	12: 59,053,884 (GRCm39)	V38A	probably benign	Het
Slc15a2	G	A	16: 36,602,021 (GRCm39)	T92M	possibly damaging	Het
Slc2a2	A	G	3: 28,781,260 (GRCm39)	T433A	probably benign	Het
Sptan1	A	G	2: 29,906,067 (GRCm39)	D1671G	probably damaging	Het
Stab1	A	G	14: 30,861,167 (GRCm39)		probably benign	Het
Stau2	A	T	1: 16,556,293 (GRCm39)	I22N	possibly damaging	Het
Strn3	A	T	12: 51,708,410 (GRCm39)	Y123*	probably null	Het
Tmem205	A	G	9: 21,837,607 (GRCm39)	V13A	possibly damaging	Het
Trub1	G	A	19: 57,472,009 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,568,699 (GRCm39)	V27398A	possibly damaging	Het
Vill	A	G	9: 118,899,845 (GRCm39)	E343G	possibly damaging	Het
Zgpat	T	C	2: 181,008,029 (GRCm39)	F189L	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
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
R1780:Or9s27	UTSW	1	92,516,111 (GRCm39)	missense	probably benign	0.01
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

Posted On

2015-04-16