Mutagenetix > Incidental Mutation

Incidental Mutation 'R0317:Or8g30'

25465

Institutional Source

Beutler Lab

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

MMRRC Submission

038527-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R0317 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39229943-39230908 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39230757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 51 (I51T)

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: I51T

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000075834
Gene: ENSMUSG00000057349
AA Change: I51T

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: I51T

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.8%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,243,459 (GRCm39)	V1774A	probably damaging	Het
Adam34	G	A	8: 44,105,288 (GRCm39)	P119L	probably benign	Het
Ap3b2	T	C	7: 81,113,429 (GRCm39)		probably null	Het
Arfip2	G	A	7: 105,286,430 (GRCm39)	T124M	probably damaging	Het
Arhgef26	T	C	3: 62,330,965 (GRCm39)	S560P	probably damaging	Het
Bcl11a	A	T	11: 24,122,697 (GRCm39)		probably null	Het
Cab39	A	G	1: 85,776,881 (GRCm39)	E322G	probably damaging	Het
Cad	C	A	5: 31,229,665 (GRCm39)	P1382Q	probably benign	Het
Cc2d2a	T	C	5: 43,864,243 (GRCm39)		probably null	Het
Cela2a	A	T	4: 141,549,011 (GRCm39)		probably null	Het
Cert1	C	T	13: 96,770,629 (GRCm39)	R487*	probably null	Het
Ces1e	A	C	8: 93,950,667 (GRCm39)	I38S	probably benign	Het
Ces1f	A	T	8: 93,990,019 (GRCm39)	F364I	probably benign	Het
Chgb	A	G	2: 132,635,731 (GRCm39)	T558A	probably benign	Het
Cnpy4	C	T	5: 138,191,074 (GRCm39)	Q217*	probably null	Het
Crlf1	A	G	8: 70,951,249 (GRCm39)	T43A	probably benign	Het
Dnah7b	T	A	1: 46,173,816 (GRCm39)	M707K	probably damaging	Het
Ets2	G	A	16: 95,513,193 (GRCm39)	S123N	probably damaging	Het
Fry	T	C	5: 150,394,933 (GRCm39)	F304S	probably damaging	Het
Gadd45gip1	G	A	8: 85,560,745 (GRCm39)	R120H	probably benign	Het
Gbf1	A	G	19: 46,242,459 (GRCm39)	T96A	probably benign	Het
Ggn	T	A	7: 28,870,515 (GRCm39)	M1K	probably null	Het
Gm5239	A	G	18: 35,669,969 (GRCm39)	T112A	probably benign	Het
Insyn2b	C	A	11: 34,352,826 (GRCm39)	D289E	possibly damaging	Het
Kifbp	A	T	10: 62,413,861 (GRCm39)		probably null	Het
Lrrc15	A	T	16: 30,092,561 (GRCm39)	H259Q	probably benign	Het
Lysmd4	A	G	7: 66,876,045 (GRCm39)	Y236C	probably damaging	Het
Med29	T	C	7: 28,086,284 (GRCm39)	T175A	possibly damaging	Het
Mfsd12	G	T	10: 81,193,633 (GRCm39)	D68Y	probably damaging	Het
Myh1	T	C	11: 67,108,338 (GRCm39)	L1308P	probably damaging	Het
Nphp4	T	A	4: 152,636,388 (GRCm39)		probably null	Het
Pdhx	A	G	2: 102,858,625 (GRCm39)	V393A	probably benign	Het
Pgm5	A	G	19: 24,801,763 (GRCm39)	I155T	possibly damaging	Het
Pgr	A	T	9: 8,965,023 (GRCm39)	I889F	probably benign	Het
Phactr4	T	A	4: 132,114,241 (GRCm39)	K51I	probably damaging	Het
Pum2	T	A	12: 8,778,754 (GRCm39)	I468K	possibly damaging	Het
Rab11a	A	G	9: 64,632,835 (GRCm39)	S24P	probably damaging	Het
Rasef	T	C	4: 73,666,799 (GRCm39)	Q160R	probably damaging	Het
Rbl2	A	G	8: 91,813,772 (GRCm39)	D339G	probably benign	Het
Recql5	A	G	11: 115,785,499 (GRCm39)	S666P	probably benign	Het
Rfc1	A	T	5: 65,453,395 (GRCm39)		probably null	Het
Scarb1	A	G	5: 125,366,756 (GRCm39)	V59A	probably damaging	Het
Slc2a4	C	T	11: 69,837,182 (GRCm39)	V85M	probably damaging	Het
Slc6a12	A	G	6: 121,335,584 (GRCm39)	I291V	possibly damaging	Het
Slco3a1	A	C	7: 74,154,174 (GRCm39)	Y104D	probably damaging	Het
Suz12	T	A	11: 79,889,904 (GRCm39)	D13E	probably damaging	Het
Tlr1	G	T	5: 65,083,310 (GRCm39)	C422*	probably null	Het
Tmco1	T	C	1: 167,153,462 (GRCm39)	V114A	probably damaging	Het
Trpa1	T	C	1: 14,951,856 (GRCm39)	T948A	probably benign	Het
Tub	A	T	7: 108,620,134 (GRCm39)	N93Y	probably damaging	Het
Ufsp2	G	A	8: 46,445,270 (GRCm39)		probably null	Het
Veph1	T	C	3: 66,079,396 (GRCm39)	D373G	probably benign	Het
Vmn1r206	A	G	13: 22,805,130 (GRCm39)	S26P	possibly damaging	Het
Vmn2r1	T	C	3: 63,989,240 (GRCm39)	S60P	possibly damaging	Het
Wdcp	A	G	12: 4,901,583 (GRCm39)	S480G	probably benign	Het
Wnk4	T	C	11: 101,159,630 (GRCm39)	S612P	probably benign	Het
Zfp503	T	C	14: 22,036,527 (GRCm39)	K130E	probably benign	Het
Zkscan16	G	A	4: 58,957,602 (GRCm39)	C628Y	possibly 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
IGL02678:Or8g30	APN	9	39,230,217 (GRCm39)	missense	probably benign	0.01
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
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

Predicted Primers

PCR Primer
(F):5'- GAGCTGAACCATGCATCCAGAGTAG -3'
(R):5'- TGCACCACAGTGGGACACTTTTC -3'

Sequencing Primer
(F):5'- AGGAGATGATGTTCTTCTTTGTCAG -3'
(R):5'- GTGACTCTAACAGGCTTACAACTG -3'

Posted On

2013-04-16