Mutagenetix > Incidental Mutation

Incidental Mutation 'R5339:Or8g30'

423700

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

042918-MU

Accession Numbers

Essential gene?

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

Stock #

R5339 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39229943-39230908 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 39230599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 104 (F104I)

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: F104I

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000075834
Gene: ENSMUSG00000057349
AA Change: F104I

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: F104I

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.1467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (57/59)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	C	T	10: 10,318,350 (GRCm39)	G158E	probably damaging	Het
Adgrl2	C	T	3: 148,523,480 (GRCm39)	R1256H	probably benign	Het
C3	C	A	17: 57,531,308 (GRCm39)	V329F	probably damaging	Het
Ccdc50	C	T	16: 27,236,055 (GRCm39)	H130Y	probably damaging	Het
Chrna7	A	G	7: 62,749,055 (GRCm39)	S476P	probably damaging	Het
Crtc1	A	T	8: 70,850,383 (GRCm39)		probably benign	Het
Dnah12	A	G	14: 26,536,494 (GRCm39)	T2137A	possibly damaging	Het
Ehd3	G	A	17: 74,135,202 (GRCm39)	M359I	possibly damaging	Het
Fastkd3	G	A	13: 68,738,283 (GRCm39)	G611R	probably damaging	Het
Foxa2	T	A	2: 147,886,354 (GRCm39)	S154C	probably damaging	Het
Gfm2	T	C	13: 97,311,548 (GRCm39)	I733T	probably benign	Het
Gm1968	T	C	16: 29,781,077 (GRCm39)		noncoding transcript	Het
Gmfg-ps	T	C	6: 4,893,401 (GRCm39)		noncoding transcript	Het
Gzmd	A	T	14: 56,368,140 (GRCm39)	N106K	possibly damaging	Het
Huwe1	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	X: 150,690,044 (GRCm39)		probably benign	Het
Ipo5	T	C	14: 121,181,122 (GRCm39)	W883R	probably damaging	Het
Itpr1	T	A	6: 108,370,922 (GRCm39)	V1063D	probably damaging	Het
Kansl3	A	C	1: 36,406,802 (GRCm39)		probably benign	Het
Klkb1	C	A	8: 45,723,748 (GRCm39)	V556F	possibly damaging	Het
Krtap14	C	A	16: 88,622,747 (GRCm39)	R77S	probably benign	Het
Leng8	T	A	7: 4,148,285 (GRCm39)	Y686N	possibly damaging	Het
Mctp1	C	A	13: 76,973,825 (GRCm39)		probably benign	Het
Moxd2	T	C	6: 40,862,354 (GRCm39)	Y155C	probably damaging	Het
Ofcc1	A	G	13: 40,241,321 (GRCm39)	V729A	probably benign	Het
Or2w6	G	A	13: 21,843,404 (GRCm39)	L30F	probably benign	Het
Or4k1	C	A	14: 50,377,759 (GRCm39)	M112I	probably damaging	Het
Or7g27	G	A	9: 19,250,455 (GRCm39)	G233E	possibly damaging	Het
Or8g37	T	A	9: 39,731,229 (GRCm39)	M98K	probably damaging	Het
Pdia4	C	T	6: 47,773,619 (GRCm39)	A577T	possibly damaging	Het
Pex5	A	T	6: 124,374,963 (GRCm39)	S629T	probably benign	Het
Pnpla7	T	C	2: 24,892,949 (GRCm39)	S146P	probably benign	Het
Prune2	G	A	19: 17,098,236 (GRCm39)	E1247K	probably damaging	Het
Reg3a	A	G	6: 78,360,522 (GRCm39)		probably null	Het
Snx8	G	A	5: 140,343,905 (GRCm39)	R78C	probably damaging	Het
Sstr5	T	C	17: 25,710,173 (GRCm39)	E352G	probably benign	Het
Svep1	T	C	4: 58,121,892 (GRCm39)	Y767C	possibly damaging	Het
Tbx15	G	A	3: 99,223,600 (GRCm39)	V263M	possibly damaging	Het
Tdrd9	T	C	12: 111,993,556 (GRCm39)	Y695H	probably damaging	Het
Tep1	A	T	14: 51,082,031 (GRCm39)	L1174Q	probably damaging	Het
Tg	T	A	15: 66,549,942 (GRCm39)	Y235N	probably damaging	Het
Tha1	C	A	11: 117,761,908 (GRCm39)	R111L	possibly damaging	Het
Trim17	C	T	11: 58,845,336 (GRCm39)		probably null	Het
Trim72	A	G	7: 127,609,505 (GRCm39)	T436A	probably benign	Het
Uba7	C	T	9: 107,856,065 (GRCm39)	A480V	probably damaging	Het
Ublcp1	A	T	11: 44,346,435 (GRCm39)	S313T	probably benign	Het
Ubqlnl	A	G	7: 103,798,972 (GRCm39)	V175A	probably benign	Het
Vps26a	A	G	10: 62,294,746 (GRCm39)	L276P	probably damaging	Het
Zdhhc21	C	T	4: 82,756,550 (GRCm39)	G110S	probably damaging	Het
Zfp236	T	C	18: 82,642,491 (GRCm39)	E1133G	probably damaging	Het
Zfp800	A	T	6: 28,256,472 (GRCm39)	S39T	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
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
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'- GCATGCAAGTTTCAACAGGG -3'
(R):5'- ACCTGGGGATGATTGCATTG -3'

Sequencing Primer
(F):5'- GTGGTTGATCACATTTAACTTGCAG -3'
(R):5'- GCATTGATTGGGATCAGTTCC -3'

Posted On

2016-08-04