Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02678:Or8g30'

303215

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or8g30

Ensembl Gene

ENSMUSG00000057349

Gene Name

olfactory receptor family 8 subfamily G member 30

Synonyms

MOR171-45, GA_x6K02T2PVTD-33016899-33015934, Olfr948, MOR171-51

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL02678

Quality Score

Status

Chromosome

Chromosomal Location

39229943-39230908 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 39230217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 231 (S231N)

Ref Sequence

ENSEMBL: ENSMUSP00000149422 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076516] [ENSMUST00000216132]

AlphaFold

Q9EQ95

Predicted Effect

probably benign
Transcript: ENSMUST00000076516
AA Change: S231N

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000075834
Gene: ENSMUSG00000057349
AA Change: S231N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.6e-49	PFAM
Pfam:7tm_1	41	290	1.1e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216132
AA Change: S231N

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,035,867 (GRCm39)		probably benign	Het
Adgrb1	A	G	15: 74,410,177 (GRCm39)	E272G	probably damaging	Het
Alcam	G	A	16: 52,094,401 (GRCm39)	P416S	probably damaging	Het
B3galt1	A	G	2: 67,949,254 (GRCm39)	H323R	probably benign	Het
Bahcc1	G	A	11: 120,163,697 (GRCm39)	S665N	probably damaging	Het
Birc6	T	C	17: 74,956,898 (GRCm39)	S3631P	probably damaging	Het
Capn3	A	C	2: 120,333,479 (GRCm39)	N621T	probably damaging	Het
Cblif	T	C	19: 11,725,839 (GRCm39)	M43T	probably damaging	Het
Ccdc162	G	A	10: 41,437,151 (GRCm39)	H480Y	probably damaging	Het
Ccr2	T	A	9: 123,906,783 (GRCm39)	D354E	probably benign	Het
Cdc42bpb	T	G	12: 111,292,530 (GRCm39)	D335A	probably damaging	Het
Cdcp3	A	G	7: 130,830,646 (GRCm39)	Y360C	probably damaging	Het
Chrd	G	T	16: 20,552,770 (GRCm39)	R89L	probably damaging	Het
Cops2	T	C	2: 125,686,831 (GRCm39)	R91G	probably benign	Het
Ddi1	T	C	9: 6,266,106 (GRCm39)	T88A	probably benign	Het
Dnai1	A	C	4: 41,602,917 (GRCm39)	E140A	probably benign	Het
Eif1ad17	C	A	12: 87,978,946 (GRCm39)	P110Q	possibly damaging	Het
Gcn1	A	G	5: 115,751,814 (GRCm39)	D2063G	probably damaging	Het
Gdpd4	A	T	7: 97,623,584 (GRCm39)		probably benign	Het
Gng7	C	A	10: 80,787,518 (GRCm39)	L48F	probably damaging	Het
Htt	G	T	5: 35,057,246 (GRCm39)	C2725F	probably damaging	Het
Inpp4b	A	G	8: 82,583,373 (GRCm39)	K159R	probably damaging	Het
Insr	G	T	8: 3,223,570 (GRCm39)	N854K	probably benign	Het
Ktn1	A	T	14: 47,971,610 (GRCm39)		probably null	Het
Lcat	A	G	8: 106,668,572 (GRCm39)		probably null	Het
Mb21d2	T	C	16: 28,646,801 (GRCm39)	E391G	probably benign	Het
Mms19	A	G	19: 41,942,915 (GRCm39)	S354P	possibly damaging	Het
Mx2	G	A	16: 97,357,320 (GRCm39)		probably null	Het
Mycl	G	A	4: 122,893,776 (GRCm39)	R192Q	probably damaging	Het
Mzf1	A	G	7: 12,786,836 (GRCm39)	V78A	probably benign	Het
Nipbl	G	T	15: 8,380,594 (GRCm39)	P733T	possibly damaging	Het
Nploc4	A	G	11: 120,280,198 (GRCm39)	I450T	probably benign	Het
Omd	A	T	13: 49,745,757 (GRCm39)	E389V	probably benign	Het
Oxgr1	A	G	14: 120,259,580 (GRCm39)	L209P	probably damaging	Het
Pak1	A	C	7: 97,543,209 (GRCm39)	T291P	probably damaging	Het
Pcmtd1	T	A	1: 7,240,045 (GRCm39)	I338K	probably damaging	Het
Phrf1	A	G	7: 140,840,195 (GRCm39)	D364G	probably damaging	Het
Pomk	G	A	8: 26,473,135 (GRCm39)	P273S	probably damaging	Het
Psg22	A	T	7: 18,453,418 (GRCm39)	I38F	probably damaging	Het
Rbks	G	T	5: 31,830,757 (GRCm39)	T42N	probably damaging	Het
Rrbp1	A	G	2: 143,832,107 (GRCm39)	V20A	probably damaging	Het
Six4	T	C	12: 73,159,408 (GRCm39)	Y176C	probably damaging	Het
Slc11a2	T	A	15: 100,310,081 (GRCm39)	M9L	possibly damaging	Het
Slc16a11	T	C	11: 70,106,242 (GRCm39)	L112S	probably damaging	Het
Slc25a28	A	T	19: 43,655,586 (GRCm39)		probably benign	Het
Slc30a3	G	A	5: 31,245,676 (GRCm39)	R237*	probably null	Het
Slco1a8	A	T	6: 141,954,444 (GRCm39)	Y10N	probably damaging	Het
Smc1b	G	A	15: 84,949,201 (GRCm39)	R1237*	probably null	Het
Smtn	T	C	11: 3,476,353 (GRCm39)	E585G	possibly damaging	Het
Spatc1	A	T	15: 76,176,572 (GRCm39)	D441V	probably damaging	Het
Tenm4	A	G	7: 96,545,426 (GRCm39)	N2481D	probably damaging	Het
Tnks2	A	T	19: 36,823,143 (GRCm39)	I137F	possibly damaging	Het
Trip11	T	C	12: 101,849,649 (GRCm39)	K1472E	probably damaging	Het
Ttn	C	A	2: 76,708,660 (GRCm39)	E1846*	probably null	Het
Vwa8	A	G	14: 79,221,640 (GRCm39)	D532G	probably damaging	Het
Zfp268	A	T	4: 145,349,067 (GRCm39)	H168L	probably damaging	Het
Zfp977	G	A	7: 42,232,419 (GRCm39)	T14I	probably damaging	Het

Other mutations in Or8g30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01588:Or8g30	APN	9	39,230,128 (GRCm39)	nonsense	probably null
IGL02297:Or8g30	APN	9	39,229,999 (GRCm39)	missense	possibly damaging	0.64
IGL03182:Or8g30	APN	9	39,230,277 (GRCm39)	missense	probably benign	0.16
R0116:Or8g30	UTSW	9	39,230,160 (GRCm39)	missense	probably damaging	1.00
R0152:Or8g30	UTSW	9	39,230,757 (GRCm39)	missense	probably benign	0.32
R0227:Or8g30	UTSW	9	39,229,974 (GRCm39)	missense	probably benign	0.00
R0317:Or8g30	UTSW	9	39,230,757 (GRCm39)	missense	probably benign	0.32
R2151:Or8g30	UTSW	9	39,230,413 (GRCm39)	missense	probably damaging	0.97
R2210:Or8g30	UTSW	9	39,230,089 (GRCm39)	missense	probably damaging	1.00
R2974:Or8g30	UTSW	9	39,230,292 (GRCm39)	missense	probably damaging	1.00
R4716:Or8g30	UTSW	9	39,230,725 (GRCm39)	missense	probably benign	0.22
R4886:Or8g30	UTSW	9	39,230,881 (GRCm39)	missense	probably benign	0.01
R5058:Or8g30	UTSW	9	39,229,960 (GRCm39)	missense	probably benign
R5339:Or8g30	UTSW	9	39,230,599 (GRCm39)	missense	possibly damaging	0.94
R6431:Or8g30	UTSW	9	39,230,074 (GRCm39)	missense	possibly damaging	0.50
R6736:Or8g30	UTSW	9	39,230,089 (GRCm39)	missense	probably damaging	1.00
R6902:Or8g30	UTSW	9	39,230,315 (GRCm39)	missense	probably damaging	1.00
R6946:Or8g30	UTSW	9	39,230,315 (GRCm39)	missense	probably damaging	1.00
R8303:Or8g30	UTSW	9	39,230,689 (GRCm39)	missense	probably damaging	1.00
R8314:Or8g30	UTSW	9	39,230,601 (GRCm39)	missense	probably damaging	1.00
R8413:Or8g30	UTSW	9	39,230,401 (GRCm39)	nonsense	probably null
R8784:Or8g30	UTSW	9	39,229,989 (GRCm39)	missense	probably benign	0.00
R9015:Or8g30	UTSW	9	39,230,019 (GRCm39)	missense	probably damaging	1.00
R9255:Or8g30	UTSW	9	39,230,487 (GRCm39)	missense	probably benign	0.00
R9624:Or8g30	UTSW	9	39,230,848 (GRCm39)	missense	probably benign	0.04
R9790:Or8g30	UTSW	9	39,230,815 (GRCm39)	missense	probably benign	0.00
R9791:Or8g30	UTSW	9	39,230,815 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16