Mutagenetix > Incidental Mutation

Incidental Mutation 'R0482:Olfr48'

42006

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

038682-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R0482 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89841793-89848205 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89844169 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 268 (V268A)

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: V268A

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000097350
Gene: ENSMUSG00000075072
AA Change: V268A

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: V268A

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000215613

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216674

Meta Mutation Damage Score

0.2333

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.8%
20x: 93.4%

Validation Efficiency

95% (94/99)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 8,988,423		probably null	Het
Abca13	G	A	11: 9,328,207	G3129D	possibly damaging	Het
Acnat2	T	C	4: 49,383,534	I6M	probably benign	Het
Adcy4	T	A	14: 55,774,572		probably null	Het
Agrn	A	G	4: 156,173,555	S1117P	probably damaging	Het
Anks1b	A	G	10: 90,359,195	N545S	probably benign	Het
Antxr1	C	T	6: 87,269,238		probably null	Het
Arhgef17	T	C	7: 100,880,621	K476E	probably damaging	Het
Bptf	T	C	11: 107,081,262	S927G	probably benign	Het
Cacna1s	C	T	1: 136,113,394	T1286I	probably benign	Het
Ccdc174	T	A	6: 91,895,266	M292K	probably benign	Het
Cdk5rap2	G	A	4: 70,410,269		probably benign	Het
Celsr3	T	A	9: 108,829,073	Y918*	probably null	Het
Cep250	T	C	2: 155,964,974		probably benign	Het
Ces2h	A	G	8: 105,020,271	D513G	possibly damaging	Het
Clec2l	A	G	6: 38,663,392	T53A	probably benign	Het
Cntnap2	C	T	6: 45,715,816	S77L	probably benign	Het
Cped1	A	T	6: 22,016,958	H102L	probably benign	Het
Crim1	T	A	17: 78,372,579	D916E	probably benign	Het
Csmd1	T	A	8: 16,233,101	I614F	probably damaging	Het
Csnk1g1	G	A	9: 66,010,469	E37K	probably damaging	Het
Ctnnbl1	T	A	2: 157,871,190		probably null	Het
Cuzd1	A	T	7: 131,309,872		probably benign	Het
Cyp4f16	T	A	17: 32,550,551	V433D	probably damaging	Het
Ddi1	A	G	9: 6,266,144	L75P	probably damaging	Het
Ddias	G	A	7: 92,859,528	A393V	probably benign	Het
Dgka	A	T	10: 128,734,121	Y123*	probably null	Het
Dlgap1	T	C	17: 70,516,190	C57R	probably benign	Het
Dysf	T	A	6: 84,152,405	V1458D	probably benign	Het
Eif2ak4	T	A	2: 118,462,347	Y1230N	probably damaging	Het
Fam160a2	G	A	7: 105,384,212	P599L	possibly damaging	Het
Fam46a	T	C	9: 85,325,055	Y230C	probably damaging	Het
Fbxl7	A	T	15: 26,543,546	S338R	probably benign	Het
Fgf23	A	T	6: 127,073,159	T44S	probably damaging	Het
Folh1	A	T	7: 86,746,101		probably benign	Het
Gpsm2	A	T	3: 108,702,394		probably benign	Het
Hdac2	T	A	10: 36,989,134		probably benign	Het
Hist1h2bl	A	G	13: 21,716,125		probably benign	Het
Il31ra	G	T	13: 112,527,481	T446N	possibly damaging	Het
Irf5	T	A	6: 29,535,370	L199H	probably benign	Het
Kif18a	T	A	2: 109,287,843	M1K	probably null	Het
Kif4-ps	A	C	12: 101,148,662	I1017L	probably benign	Het
Klhl2	C	T	8: 64,758,130	V295M	probably benign	Het
Krt75	A	T	15: 101,570,311	M296K	probably benign	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Lgr4	T	C	2: 110,008,092	S439P	probably damaging	Het
Lhfpl2	C	A	13: 94,174,610	N129K	probably damaging	Het
Lnx2	A	G	5: 147,018,961	V675A	probably damaging	Het
Med13	T	C	11: 86,285,151	T1673A	probably benign	Het
Mif	A	G	10: 75,860,140	V10A	possibly damaging	Het
Mki67	A	T	7: 135,699,429	I1292N	possibly damaging	Het
Mylip	C	A	13: 45,404,583	N89K	probably benign	Het
Myo19	G	T	11: 84,909,419	D877Y	probably benign	Het
Nckap5	A	G	1: 126,026,365	S753P	possibly damaging	Het
Nlrc3	T	C	16: 3,965,192	T118A	possibly damaging	Het
Nptx2	T	C	5: 144,553,459	Y233H	probably damaging	Het
Nsl1	T	A	1: 191,063,040	M1K	probably null	Het
Ntsr1	T	A	2: 180,501,056	S213R	possibly damaging	Het
Olfr1225	A	T	2: 89,170,631	F194I	probably benign	Het
Olfr669	T	A	7: 104,938,814	F96Y	possibly damaging	Het
Pde4d	G	A	13: 109,936,710	V347I	probably benign	Het
Pik3r4	T	A	9: 105,669,045	S865T	probably benign	Het
Ppp2r2d	A	G	7: 138,870,431	R136G	probably benign	Het
Proser2	A	C	2: 6,113,910	S41A	probably damaging	Het
Proz	A	T	8: 13,073,460	K244*	probably null	Het
Prpf38b	A	T	3: 108,905,270	L209H	probably damaging	Het
R3hdm1	C	A	1: 128,184,517	A390E	probably benign	Het
Rb1cc1	A	C	1: 6,240,323	D315A	probably damaging	Het
Rnf141	G	A	7: 110,837,138	R28*	probably null	Het
Rps6kc1	A	T	1: 190,799,430	S792T	probably benign	Het
Rxrg	A	G	1: 167,631,037	D233G	possibly damaging	Het
Sh2d7	A	G	9: 54,541,037	N114S	probably benign	Het
Slc25a38	T	C	9: 120,120,833	V205A	probably benign	Het
Slc4a10	T	C	2: 62,297,017		probably benign	Het
Spred1	T	A	2: 117,152,978		probably null	Het
Stt3b	A	G	9: 115,248,567	S706P	probably benign	Het
Tcerg1	C	A	18: 42,564,240		probably benign	Het
Thsd4	A	T	9: 60,002,978	I109N	probably damaging	Het
Ticrr	C	A	7: 79,694,488	P1367Q	probably damaging	Het
Trpv1	A	G	11: 73,239,429	D146G	probably damaging	Het
Tubd1	T	G	11: 86,557,776	V305G	possibly damaging	Het
Tubgcp4	T	C	2: 121,175,374	L81P	probably benign	Het
Ubxn2b	T	A	4: 6,196,404		probably null	Het
Usp36	A	T	11: 118,265,194	S586T	probably benign	Het
Vcan	T	A	13: 89,678,145	D2220V	probably damaging	Het
Vmn1r173	T	A	7: 23,702,791	N150K	probably damaging	Het
Vmn1r70	G	A	7: 10,634,277	A231T	probably damaging	Het
Vmn2r97	A	G	17: 18,947,668	D728G	probably damaging	Het
Zbtb40	T	C	4: 136,983,228	E1200G	probably damaging	Het
Zfp365	A	T	10: 67,897,606	V252D	probably damaging	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
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
R9184:Olfr48	UTSW	2	89844950	missense	probably benign	0.06
R9420:Olfr48	UTSW	2	89844371	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- GCTTGACCTACCATCAACACACGTT -3'
(R):5'- TGACCTGACCCCTTTGCTGAAAC -3'

Sequencing Primer
(F):5'- GTTAGCATATGCTATTCACTATGCTC -3'
(R):5'- GCCAACAGTGGCTTTATCTG -3'

Posted On

2013-05-23