Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02437:Olfr48'

293333

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfr48

Ensembl Gene

ENSMUSG00000075072

Gene Name

olfactory receptor 48

Synonyms

IC3, MOR232-5, GA_x6K02T2Q125-51285881-51284976

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL02437

Quality Score

Status

Chromosome

Chromosomal Location

89841793-89848205 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89844784 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 63 (L63P)

Ref Sequence

ENSEMBL: ENSMUSP00000150505 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000099762
AA Change: L63P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097350
Gene: ENSMUSG00000075072
AA Change: L63P

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 damaging
Transcript: ENSMUST00000214428
AA Change: L63P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000215613

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216674

Coding Region Coverage

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
A930011G23Rik	A	G	5: 99,229,377	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,229,382	P402L	probably damaging	Het
Abca16	T	G	7: 120,533,729	C1294G	probably benign	Het
Abca7	T	A	10: 80,008,389	S1410T	probably damaging	Het
Abhd12	T	C	2: 150,834,369	D356G	probably benign	Het
BC004004	T	C	17: 29,298,697	L295P	probably damaging	Het
Bpifc	T	C	10: 85,988,731	S215G	probably damaging	Het
Bptf	C	T	11: 107,074,695	M1109I	probably benign	Het
Brat1	C	T	5: 140,712,808	A245V	possibly damaging	Het
Cask	G	A	X: 13,537,621	T16I	probably damaging	Het
Clic6	A	T	16: 92,530,929	I541F	probably damaging	Het
Clnk	C	T	5: 38,774,566		probably null	Het
Cntnap1	T	A	11: 101,186,851	I1113N	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cyp26a1	T	C	19: 37,698,495	S132P	probably benign	Het
Cyp4f13	G	T	17: 32,930,608	H85N	probably benign	Het
Dcaf15	C	T	8: 84,101,816	G215D	probably damaging	Het
Dip2a	T	C	10: 76,298,267	T500A	probably benign	Het
Fam92b	T	C	8: 120,174,786	E60G	probably damaging	Het
Gbe1	T	A	16: 70,434,658		probably benign	Het
Gli2	T	A	1: 118,836,003	I1473F	probably damaging	Het
Gm5129	A	T	5: 29,735,863		probably benign	Het
Hdgf	C	T	3: 87,914,485	R168C	probably damaging	Het
Heph	A	G	X: 96,473,027	T342A	probably benign	Het
Kdelr3	T	C	15: 79,525,787	Y158H	probably damaging	Het
Lamb3	C	T	1: 193,327,945	R289C	probably damaging	Het
Leng8	C	T	7: 4,142,093	A164V	probably damaging	Het
Ltn1	T	C	16: 87,398,001	T1337A	probably benign	Het
Mast3	C	A	8: 70,780,558	R316L	possibly damaging	Het
Nampt	A	G	12: 32,830,216	Y36C	probably damaging	Het
Ncapd3	T	A	9: 27,063,968		probably benign	Het
Nipbl	T	C	15: 8,359,074	D354G	probably damaging	Het
Nsd1	A	T	13: 55,313,441	R2494W	probably damaging	Het
Nt5c1a	A	G	4: 123,214,241	N239S	probably benign	Het
Ogfr	A	G	2: 180,589,536	E19G	possibly damaging	Het
Olfr747	A	T	14: 50,681,200	S145T	probably benign	Het
Pcna	A	T	2: 132,251,235		probably benign	Het
Pdia3	T	A	2: 121,433,648	V326E	probably damaging	Het
Phf8	T	A	X: 151,631,360	L1002Q	possibly damaging	Het
Rhobtb2	T	C	14: 69,795,916	E535G	probably damaging	Het
Rusc2	G	T	4: 43,415,545	D284Y	probably damaging	Het
Samd8	A	G	14: 21,775,423	Y212C	probably benign	Het
Sash3	C	A	X: 48,158,795	Q169K	probably benign	Het
Scyl1	C	T	19: 5,766,196	G324S	probably damaging	Het
Sec62	G	A	3: 30,818,847	G360R	unknown	Het
Sis	T	C	3: 72,919,614		probably null	Het
Slc6a1	T	A	6: 114,308,617	I338N	probably damaging	Het
Snrnp200	A	G	2: 127,216,110	D264G	probably damaging	Het
Tgm3	G	T	2: 130,030,041		probably null	Het
Tmem2	T	C	19: 21,811,978		probably null	Het
Tnrc6b	T	G	15: 80,880,457	L720R	probably damaging	Het
Tspyl4	A	T	10: 34,298,232	Q240L	probably damaging	Het
Tube1	G	A	10: 39,140,850	V80I	probably damaging	Het
Uap1l1	C	T	2: 25,363,933	V304M	probably damaging	Het
Wtap	T	C	17: 12,967,733	N309S	probably benign	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het
Zfyve26	T	C	12: 79,268,847	D1285G	probably benign	Het
Zscan20	G	A	4: 128,588,417	T484I	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
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

Posted On

2015-04-16