Mutagenetix > Incidental Mutation

Incidental Mutation 'R6431:Or8g30'

518540

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

044569-MU

Accession Numbers

Essential gene?

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

Stock #

R6431 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39229943-39230908 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39230074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 279 (T279A)

Ref Sequence

ENSEMBL: ENSMUSP00000149422 (fasta)

Gene Model

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

AlphaFold

Q9EQ95

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076516
AA Change: T279A

PolyPhen 2 Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000075834
Gene: ENSMUSG00000057349
AA Change: T279A

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

possibly damaging
Transcript: ENSMUST00000216132
AA Change: T279A

PolyPhen 2 Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.2%
20x: 93.9%

Validation Efficiency

100% (68/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy5	A	G	16: 35,099,607 (GRCm39)	E719G	probably damaging	Het
Ankdd1a	A	G	9: 65,424,220 (GRCm39)	M31T	possibly damaging	Het
Atp13a5	T	C	16: 29,070,154 (GRCm39)	K911E	possibly damaging	Het
Bpifb3	G	T	2: 153,766,728 (GRCm39)	L210F	probably damaging	Het
Cacna1c	T	C	6: 118,728,334 (GRCm39)	Y211C	probably damaging	Het
Carm1	C	A	9: 21,494,373 (GRCm39)	P297T	probably damaging	Het
Cdh19	A	T	1: 110,852,787 (GRCm39)	Y383N	probably benign	Het
Cfap221	T	C	1: 119,860,583 (GRCm39)	H681R	probably damaging	Het
Cmya5	A	C	13: 93,210,972 (GRCm39)	S3274A	possibly damaging	Het
Cndp2	T	A	18: 84,693,203 (GRCm39)	K186*	probably null	Het
Ctdp1	G	T	18: 80,494,470 (GRCm39)	F310L	probably damaging	Het
Cyp2c55	A	T	19: 39,019,853 (GRCm39)	I264F	probably damaging	Het
Dhx40	A	T	11: 86,664,649 (GRCm39)	F628I	probably damaging	Het
Disc1	T	A	8: 125,862,128 (GRCm39)	M500K	possibly damaging	Het
Dnah5	A	C	15: 28,349,970 (GRCm39)	D2551A	possibly damaging	Het
Esyt1	A	G	10: 128,352,543 (GRCm39)		probably null	Het
Fam78a	T	C	2: 31,972,843 (GRCm39)	S26G	probably damaging	Het
Fn1	G	A	1: 71,687,003 (GRCm39)		probably null	Het
Gbx1	T	C	5: 24,709,916 (GRCm39)	T310A	probably benign	Het
Ggh	T	A	4: 20,042,219 (GRCm39)	C16S	unknown	Het
Gm11595	T	A	11: 99,663,600 (GRCm39)	T27S	unknown	Het
Gm17334	T	A	11: 53,663,564 (GRCm39)		probably benign	Het
Gsk3b	A	G	16: 38,014,311 (GRCm39)	I256M	probably damaging	Het
Hmcn1	A	T	1: 150,620,711 (GRCm39)	S1166R	probably benign	Het
Hyou1	T	C	9: 44,293,322 (GRCm39)		probably null	Het
Jup	G	T	11: 100,265,167 (GRCm39)	R637S	probably benign	Het
Lama2	T	A	10: 26,929,027 (GRCm39)	I2087F	possibly damaging	Het
Lamc1	T	G	1: 153,097,417 (GRCm39)	K1542N	probably benign	Het
Lgals4	G	T	7: 28,540,117 (GRCm39)			Het
Lrrc8d	A	G	5: 105,959,626 (GRCm39)	D12G	probably damaging	Het
Lrwd1	C	T	5: 136,161,888 (GRCm39)	V207M	possibly damaging	Het
Mbd1	T	A	18: 74,406,762 (GRCm39)		probably null	Het
Msi1	T	A	5: 115,588,984 (GRCm39)	I333N	probably damaging	Het
Neo1	C	T	9: 58,814,354 (GRCm39)	V871I	probably benign	Het
Nr2c1	T	C	10: 94,024,078 (GRCm39)	C428R	probably damaging	Het
Ntm	A	G	9: 29,322,978 (GRCm39)	L14P	probably damaging	Het
Nxpe4	A	T	9: 48,304,145 (GRCm39)	K77N	probably damaging	Het
Or1p1c	A	C	11: 74,160,235 (GRCm39)	T7P	possibly damaging	Het
Or4c119	T	A	2: 88,987,505 (GRCm39)	S5C	probably damaging	Het
Or4f17-ps1	T	A	2: 111,358,001 (GRCm39)	M132K	probably damaging	Het
Or8k18	G	A	2: 86,085,702 (GRCm39)	L112F	probably benign	Het
Pappa	T	A	4: 65,074,701 (GRCm39)	D418E	probably damaging	Het
Pde4d	G	A	13: 109,738,320 (GRCm39)		probably null	Het
Pip	A	G	6: 41,828,391 (GRCm39)	N75S	possibly damaging	Het
Plcl1	G	C	1: 55,736,411 (GRCm39)	R584P	probably benign	Het
Pnp	A	T	14: 51,188,471 (GRCm39)	D237V	probably damaging	Het
Ppp1r12a	T	C	10: 108,098,281 (GRCm39)	W857R	probably damaging	Het
Pramel13	T	C	4: 144,119,653 (GRCm39)	T305A	possibly damaging	Het
Ptchd3	A	T	11: 121,727,229 (GRCm39)	M368L	probably benign	Het
Pum1	T	A	4: 130,501,816 (GRCm39)	S868R	probably damaging	Het
R3hdml	A	T	2: 163,344,324 (GRCm39)	S238C	probably damaging	Het
Robo2	G	A	16: 73,843,697 (GRCm39)	R173*	probably null	Het
Sall3	A	G	18: 81,016,402 (GRCm39)	S509P	possibly damaging	Het
Sap130	T	G	18: 31,799,418 (GRCm39)	H298Q	possibly damaging	Het
Selenov	C	A	7: 27,987,458 (GRCm39)	G307C	probably damaging	Het
Setd2	T	A	9: 110,379,453 (GRCm39)	H1089Q	possibly damaging	Het
Setdb2	T	C	14: 59,656,505 (GRCm39)	N287D	probably damaging	Het
Sis	C	T	3: 72,865,507 (GRCm39)	V182I	probably benign	Het
Slc32a1	A	C	2: 158,453,457 (GRCm39)	D99A	probably benign	Het
Slk	A	G	19: 47,609,327 (GRCm39)	D760G	probably damaging	Het
Smg5	T	A	3: 88,258,527 (GRCm39)	D499E	probably benign	Het
Spata31e2	T	A	1: 26,723,111 (GRCm39)	N690Y	probably benign	Het
Stat3	T	C	11: 100,780,400 (GRCm39)	T720A	possibly damaging	Het
Trdn	T	G	10: 33,015,110 (GRCm39)	N21K	probably damaging	Het
Trpm4	A	T	7: 44,975,992 (GRCm39)	V118E	possibly damaging	Het
Vgll3	A	G	16: 65,612,640 (GRCm39)	Q41R	probably damaging	Het
Vmn1r189	A	G	13: 22,286,525 (GRCm39)	V104A	probably damaging	Het
Vmn1r46	A	T	6: 89,953,389 (GRCm39)	R79S	probably benign	Het
Zscan4c	T	C	7: 10,740,856 (GRCm39)	M125T	probably benign	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
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
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'- AGCTATGGCCATAAGCATTCATG -3'
(R):5'- ATCATTGCCAGCATCCTCCG -3'

Sequencing Primer
(F):5'- GGCCATAAGCATTCATGTTATCC -3'
(R):5'- TCCGTATTCGCTCCAGTGAGG -3'

Posted On

2018-05-24