Mutagenetix > Incidental Mutation

Incidental Mutation 'R7562:Or8c9'

585201

Institutional Source

Beutler Lab

Gene Symbol

Or8c9

Ensembl Gene

ENSMUSG00000058270

Gene Name

olfactory receptor family 8 subfamily C member 9

Synonyms

Olfr25, MOR170-4, GA_x6K02T2PVTD-32017922-32018863, MTPCR18

MMRRC Submission

045627-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R7562 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38240788-38241855 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38241239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 116 (T116A)

Ref Sequence

ENSEMBL: ENSMUSP00000150567 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071449] [ENSMUST00000212354] [ENSMUST00000214155]

AlphaFold

Q7TRD6

Predicted Effect

probably damaging
Transcript: ENSMUST00000071449
AA Change: T119A

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

SMART Domains

Protein: ENSMUSP00000071393
Gene: ENSMUSG00000058270
AA Change: T119A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	310	3.1e-46	PFAM
Pfam:7tm_1	44	243	8e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000212354
AA Change: T116A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000214155
AA Change: T116A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	C	T	5: 36,030,563 (GRCm39)	T544M	probably benign	Het
Adamts12	A	G	15: 11,270,697 (GRCm39)	R651G	probably benign	Het
Adck1	G	A	12: 88,335,203 (GRCm39)	D30N	possibly damaging	Het
Alcam	T	A	16: 52,089,186 (GRCm39)	I505F	probably benign	Het
Alms1	T	C	6: 85,597,394 (GRCm39)	L740P	probably damaging	Het
Ankib1	C	T	5: 3,797,021 (GRCm39)	D264N	probably null	Het
Arid2	T	G	15: 96,299,849 (GRCm39)	H1787Q	probably damaging	Het
Asf1a	C	T	10: 53,482,283 (GRCm39)	R102*	probably null	Het
Atp2b1	C	A	10: 98,858,667 (GRCm39)		probably null	Het
Bdp1	T	C	13: 100,162,049 (GRCm39)	D2291G	probably benign	Het
Bnip5	T	C	17: 29,128,778 (GRCm39)	D45G	probably benign	Het
Brinp3	C	G	1: 146,777,748 (GRCm39)	L732V	possibly damaging	Het
Catsperg2	A	G	7: 29,397,144 (GRCm39)	F1120L	probably benign	Het
Ccdc80	C	T	16: 44,943,266 (GRCm39)	A792V	probably damaging	Het
Cdcp3	T	A	7: 130,904,426 (GRCm39)	D2381E	unknown	Het
Cenpe	C	T	3: 134,954,395 (GRCm39)	R1751W	probably damaging	Het
Cenpm	T	C	15: 82,125,562 (GRCm39)	I66V	probably benign	Het
Clcn4	A	G	7: 7,298,081 (GRCm39)	W103R	possibly damaging	Het
Cntn2	T	C	1: 132,454,055 (GRCm39)	D317G	possibly damaging	Het
Cwf19l1	G	A	19: 44,117,680 (GRCm39)	T154M	probably damaging	Het
Cyp2a4	T	A	7: 26,012,321 (GRCm39)	M368K	possibly damaging	Het
Dars1	A	G	1: 128,294,763 (GRCm39)	S413P	possibly damaging	Het
Dscc1	A	G	15: 54,947,581 (GRCm39)	Y200H	probably benign	Het
Dsn1	A	T	2: 156,842,792 (GRCm39)	D183E	probably damaging	Het
Etfdh	T	C	3: 79,530,886 (GRCm39)	Y45C	probably damaging	Het
Fancc	A	T	13: 63,550,867 (GRCm39)		probably null	Het
Fbxo34	T	A	14: 47,767,135 (GRCm39)	M216K	probably benign	Het
Fer1l6	T	G	15: 58,432,331 (GRCm39)	S293A	probably benign	Het
Foxn1	T	A	11: 78,261,958 (GRCm39)	E137V	probably damaging	Het
Fshr	A	C	17: 89,295,925 (GRCm39)	F261V	probably damaging	Het
Gabrb3	C	T	7: 57,461,926 (GRCm39)	R153*	probably null	Het
Garin1b	T	C	6: 29,323,833 (GRCm39)	V186A	probably damaging	Het
Gps2	C	A	11: 69,807,308 (GRCm39)	N321K	probably benign	Het
Hdgf	T	C	3: 87,813,993 (GRCm39)	M20T	possibly damaging	Het
Igdcc4	G	T	9: 65,031,306 (GRCm39)	A415S	probably damaging	Het
Kif26b	A	G	1: 178,742,541 (GRCm39)	E879G	probably damaging	Het
Krt13	T	C	11: 100,010,162 (GRCm39)	Y273C	probably damaging	Het
Mab21l4	C	A	1: 93,087,689 (GRCm39)	V55F	probably damaging	Het
Mag	A	G	7: 30,608,559 (GRCm39)	V185A	possibly damaging	Het
Map3k21	C	T	8: 126,665,539 (GRCm39)	T576M	probably damaging	Het
Mtcl2	A	C	2: 156,895,509 (GRCm39)	L332R	probably damaging	Het
Mtrr	A	G	13: 68,714,336 (GRCm39)	F468L	probably damaging	Het
Myb	C	T	10: 21,017,653 (GRCm39)		probably null	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Naip5	G	T	13: 100,356,205 (GRCm39)	Q1137K	not run	Het
Nckap5l	A	T	15: 99,321,166 (GRCm39)		probably null	Het
Nop9	C	T	14: 55,986,809 (GRCm39)	R240W	probably benign	Het
Notch2	T	C	3: 98,020,430 (GRCm39)	L775P	probably damaging	Het
Or13a27	T	C	7: 139,925,143 (GRCm39)	Y253C	probably damaging	Het
Or4c116	C	T	2: 88,942,629 (GRCm39)	V76I	probably benign	Het
Or55b10	T	A	7: 102,143,227 (GRCm39)	I252F	possibly damaging	Het
Or7a40	T	C	16: 16,491,579 (GRCm39)	N89D	probably benign	Het
Oxa1l	T	A	14: 54,600,934 (GRCm39)	W136R	probably damaging	Het
Palm3	T	A	8: 84,748,136 (GRCm39)	V7E	possibly damaging	Het
Pkhd1l1	C	G	15: 44,378,326 (GRCm39)	R1027G	possibly damaging	Het
Prickle2	A	T	6: 92,352,929 (GRCm39)	*902K	probably null	Het
Rassf7	C	T	7: 140,797,101 (GRCm39)	R105*	probably null	Het
Septin9	T	C	11: 117,217,337 (GRCm39)		probably null	Het
Sorbs3	T	C	14: 70,444,976 (GRCm39)	N34S	probably benign	Het
Sos2	T	C	12: 69,682,412 (GRCm39)	T269A	probably benign	Het
Spata20	T	G	11: 94,373,379 (GRCm39)	K497N	probably benign	Het
Speg	A	G	1: 75,407,923 (GRCm39)	D3206G	probably damaging	Het
Tenm4	A	G	7: 96,538,021 (GRCm39)	T1865A	probably damaging	Het
Tmc5	A	T	7: 118,222,549 (GRCm39)	Y83F	probably benign	Het
Tmem175	T	A	5: 108,789,715 (GRCm39)	D103E	probably damaging	Het
Top2b	A	C	14: 16,412,946 (GRCm38)	M952L	probably benign	Het
Vmn2r6	T	C	3: 64,463,941 (GRCm39)	I298V	probably benign	Het
Vmn2r69	T	C	7: 85,056,420 (GRCm39)	I573V	probably benign	Het
Vmn2r93	A	G	17: 18,518,731 (GRCm39)	I63M	probably benign	Het
Zfp568	G	A	7: 29,722,681 (GRCm39)	R542H	probably benign	Het

Other mutations in Or8c9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01363:Or8c9	APN	9	38,240,999 (GRCm39)	missense	probably benign	0.01
IGL02044:Or8c9	APN	9	38,241,461 (GRCm39)	missense	probably benign	0.16
IGL02698:Or8c9	APN	9	38,241,506 (GRCm39)	missense	probably benign	0.03
IGL03084:Or8c9	APN	9	38,241,513 (GRCm39)	missense	probably damaging	0.97
IGL03355:Or8c9	APN	9	38,240,952 (GRCm39)	missense	probably benign	0.05
R0453:Or8c9	UTSW	9	38,241,467 (GRCm39)	missense	probably benign	0.36
R1584:Or8c9	UTSW	9	38,241,427 (GRCm39)	missense	possibly damaging	0.90
R1707:Or8c9	UTSW	9	38,241,197 (GRCm39)	missense	probably damaging	0.99
R1719:Or8c9	UTSW	9	38,241,803 (GRCm39)	missense	probably benign	0.23
R3409:Or8c9	UTSW	9	38,241,640 (GRCm39)	missense	possibly damaging	0.94
R4810:Or8c9	UTSW	9	38,241,690 (GRCm39)	missense	probably benign	0.00
R6271:Or8c9	UTSW	9	38,241,578 (GRCm39)	missense	probably benign	0.09
R6621:Or8c9	UTSW	9	38,241,758 (GRCm39)	missense	probably damaging	1.00
R7220:Or8c9	UTSW	9	38,241,046 (GRCm39)	missense	probably damaging	1.00
R7609:Or8c9	UTSW	9	38,241,520 (GRCm39)	missense	possibly damaging	0.85
R7659:Or8c9	UTSW	9	38,241,012 (GRCm39)	missense	possibly damaging	0.69
R8375:Or8c9	UTSW	9	38,241,231 (GRCm39)	missense	probably benign
R8465:Or8c9	UTSW	9	38,241,410 (GRCm39)	missense	possibly damaging	0.91
X0019:Or8c9	UTSW	9	38,241,255 (GRCm39)	missense	probably damaging	1.00
X0027:Or8c9	UTSW	9	38,241,098 (GRCm39)	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- TCAACCTGAGCTCCAGTTGC -3'
(R):5'- GTGTTACTGCAGGAGATCCG -3'

Sequencing Primer
(F):5'- CTTGCTGAACCATACTGTTATAGTGG -3'
(R):5'- CAGGGAAGATGTCACACATGTAG -3'

Posted On

2019-10-17