Mutagenetix > Incidental Mutation

Incidental Mutation 'R9184:Olfr48'

697231

Institutional Source

Beutler Lab

Gene Symbol

Olfr48

Ensembl Gene

ENSMUSG00000075072

Gene Name

olfactory receptor 48

Synonyms

IC3, MOR232-5, GA_x6K02T2Q125-51285881-51284976

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R9184 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89841793-89848205 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89844950 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 8 (I8F)

Ref Sequence

ENSEMBL: ENSMUSP00000150505 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099762] [ENSMUST00000111520] [ENSMUST00000213833] [ENSMUST00000214428] [ENSMUST00000215613]

AlphaFold

Q8VGN4

Predicted Effect

probably benign
Transcript: ENSMUST00000099762
AA Change: I8F

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000097350
Gene: ENSMUSG00000075072
AA Change: I8F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	26	299	1e-47	PFAM
Pfam:7tm_1	36	282	8.5e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111520

SMART Domains

Protein: ENSMUSP00000107145
Gene: ENSMUSG00000075073

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	2.5e-47	PFAM
Pfam:7TM_GPCR_Srsx	33	300	1.1e-5	PFAM
Pfam:7tm_1	39	285	1.3e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213833

Predicted Effect

probably benign
Transcript: ENSMUST00000214428
AA Change: I8F

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000215613

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	C	11: 78,271,388	L692S	probably damaging	Het
6030452D12Rik	T	C	8: 106,507,269	V199A	unknown	Het
Abca7	A	G	10: 80,002,856	H621R	probably damaging	Het
Adam18	T	A	8: 24,647,831	N331I	probably benign	Het
Akt1	A	G	12: 112,654,718	S475P	possibly damaging	Het
Arc	A	G	15: 74,671,930	V148A	probably damaging	Het
Atg2a	T	C	19: 6,241,857	L21P	probably damaging	Het
C1qtnf2	T	C	11: 43,474,353	V25A	probably benign	Het
Cald1	G	T	6: 34,753,577	E244D	unknown	Het
Cdc42bpa	T	A	1: 180,144,736	F1368I	probably benign	Het
Cfap61	G	A	2: 146,077,388	C680Y	probably null	Het
Chd1	T	A	17: 15,742,289	N769K	possibly damaging	Het
Clasp1	T	A	1: 118,543,178	V848E	probably benign	Het
Col15a1	G	C	4: 47,288,200		probably benign	Het
Ctsb	G	T	14: 63,138,095	G170V	probably damaging	Het
Dnah5	A	G	15: 28,340,406	K2320E	probably benign	Het
Fat4	A	T	3: 38,982,443	I3415F	probably damaging	Het
Fibcd1	A	G	2: 31,816,476	S448P	probably damaging	Het
Filip1	T	C	9: 79,898,260	K71E	probably benign	Het
Gad2	G	A	2: 22,668,319	V350I	probably benign	Het
Gigyf2	T	A	1: 87,440,589	S1032T	possibly damaging	Het
Glis3	T	C	19: 28,531,607	T326A	probably damaging	Het
Hspa9	C	T	18: 34,949,115	R146H	possibly damaging	Het
Jakmip2	A	G	18: 43,582,287	I58T	probably benign	Het
Kcnk15	G	A	2: 163,858,686	V282M	probably benign	Het
Klk1b8	A	G	7: 43,952,734	N30S	probably benign	Het
Lpin2	T	A	17: 71,233,916	Y454*	probably null	Het
Mms22l	T	C	4: 24,596,182	L1047S	probably damaging	Het
Neb	A	G	2: 52,328,755	I81T	possibly damaging	Het
Neurod4	A	T	10: 130,271,089	D105E	probably damaging	Het
Nlrp1b	A	G	11: 71,181,241	L592P	probably damaging	Het
Nnt	C	A	13: 119,381,734	K302N	probably damaging	Het
Notch4	T	C	17: 34,587,390	F1767S	probably damaging	Het
Olfr1195	C	A	2: 88,683,175	A186S	possibly damaging	Het
Olfr828	T	C	9: 18,815,842	I151V	probably benign	Het
Pcdhga4	A	T	18: 37,687,407	I670F	possibly damaging	Het
Pdp1	T	C	4: 11,962,143	E75G	possibly damaging	Het
Pds5b	T	A	5: 150,800,784	N1275K	probably benign	Het
Pink1	G	T	4: 138,321,010	Q134K	probably benign	Het
Poli	T	A	18: 70,509,179	H650L	probably damaging	Het
Prickle2	G	A	6: 92,411,524	P355L	possibly damaging	Het
Prkaca	G	A	8: 83,990,676	G194D	probably benign	Het
Ptgs2	A	T	1: 150,104,424	Y371F	probably damaging	Het
Rarb	C	T	14: 16,818,881		probably benign	Het
Rarb	T	A	14: 16,818,882		probably benign	Het
Safb2	ACTTCTTCT	ACTTCT	17: 56,571,292		probably benign	Het
Serpinb1b	T	G	13: 33,085,410	V42G	probably damaging	Het
Sgsm2	T	A	11: 74,892,008	I41F	possibly damaging	Het
Slc26a5	T	A	5: 21,813,882	D653V	probably damaging	Het
Slc26a7	C	T	4: 14,506,630	V602M	possibly damaging	Het
Slu7	T	C	11: 43,443,397	S417P	probably damaging	Het
Smad2	T	A	18: 76,289,100	D194E	probably benign	Het
Sntg1	A	T	1: 8,677,832	V112E	probably damaging	Het
Strip1	A	T	3: 107,614,663	M733K	probably benign	Het
Szt2	G	A	4: 118,384,529	S1655L	possibly damaging	Het
Ttn	A	T	2: 76,769,605	I19075N	probably benign	Het
Urb2	C	T	8: 124,045,151	T1437I	probably benign	Het
Vmn2r111	T	A	17: 22,571,841	I159F	probably benign	Het
Zfp78	T	C	7: 6,379,301	V450A	probably damaging	Het
Zmynd11	T	A	13: 9,693,439	H314L	probably benign	Het

Other mutations in Olfr48

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01661:Olfr48	APN	2	89844095	missense	probably benign	0.00
IGL02184:Olfr48	APN	2	89844385	missense	probably damaging	0.98
IGL02408:Olfr48	APN	2	89844971	start codon destroyed	probably benign	0.04
IGL02437:Olfr48	APN	2	89844784	missense	probably damaging	0.98
IGL02985:Olfr48	APN	2	89844340	missense	possibly damaging	0.66
IGL03230:Olfr48	APN	2	89844113	missense	probably benign
IGL03393:Olfr48	APN	2	89844569	missense	probably benign	0.00
R0482:Olfr48	UTSW	2	89844169	missense	probably benign	0.20
R0555:Olfr48	UTSW	2	89844443	missense	probably benign	0.00
R1268:Olfr48	UTSW	2	89844154	missense	probably damaging	0.98
R1617:Olfr48	UTSW	2	89844254	missense	probably benign	0.03
R3552:Olfr48	UTSW	2	89844343	missense	possibly damaging	0.53
R4172:Olfr48	UTSW	2	89844778	missense	probably damaging	1.00
R4173:Olfr48	UTSW	2	89844778	missense	probably damaging	1.00
R4174:Olfr48	UTSW	2	89844778	missense	probably damaging	1.00
R5540:Olfr48	UTSW	2	89844667	missense	probably damaging	1.00
R5909:Olfr48	UTSW	2	89844391	missense	possibly damaging	0.89
R5941:Olfr48	UTSW	2	89844515	missense	probably benign	0.07
R7425:Olfr48	UTSW	2	89844445	missense	probably damaging	0.99
R7445:Olfr48	UTSW	2	89844272	missense	probably damaging	0.99
R7660:Olfr48	UTSW	2	89844443	missense	probably benign	0.00
R7978:Olfr48	UTSW	2	89844267	nonsense	probably null
R7996:Olfr48	UTSW	2	89844415	missense	probably benign	0.28
R8026:Olfr48	UTSW	2	89844929	missense	probably benign	0.06
R9420:Olfr48	UTSW	2	89844371	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- CCATCTATCAGCGACAGGAAAG -3'
(R):5'- ACAGGTTCCACTCCAGACTTC -3'

Sequencing Primer
(F):5'- CATCTATCAGCGACAGGAAAGAGAGG -3'
(R):5'- CCAGTTAGTGGTTTCCAAATGTGCC -3'

Posted On

2022-02-07