Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02437:Or4c58'

293333

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or4c58

Ensembl Gene

ENSMUSG00000075072

Gene Name

olfactory receptor family 4 subfamily C member 58

Synonyms

Olfr48, IC3, GA_x6K02T2Q125-51285881-51284976, MOR232-5

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

IGL02437

Quality Score

Status

Chromosome

Chromosomal Location

89674410-89675315 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89675128 bp (GRCm39)

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]

AlphaFold

Q8VGN4

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: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Abca16	T	G	7: 120,132,952 (GRCm39)	C1294G	probably benign	Het
Abca7	T	A	10: 79,844,223 (GRCm39)	S1410T	probably damaging	Het
Abhd12	T	C	2: 150,676,289 (GRCm39)	D356G	probably benign	Het
BC004004	T	C	17: 29,517,671 (GRCm39)	L295P	probably damaging	Het
Bpifc	T	C	10: 85,824,595 (GRCm39)	S215G	probably damaging	Het
Bptf	C	T	11: 106,965,521 (GRCm39)	M1109I	probably benign	Het
Brat1	C	T	5: 140,698,563 (GRCm39)	A245V	possibly damaging	Het
Cask	G	A	X: 13,403,860 (GRCm39)	T16I	probably damaging	Het
Cemip2	T	C	19: 21,789,342 (GRCm39)		probably null	Het
Cibar2	T	C	8: 120,901,525 (GRCm39)	E60G	probably damaging	Het
Clic6	A	T	16: 92,327,817 (GRCm39)	I541F	probably damaging	Het
Clnk	C	T	5: 38,931,909 (GRCm39)		probably null	Het
Cntnap1	T	A	11: 101,077,677 (GRCm39)	I1113N	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp26a1	T	C	19: 37,686,943 (GRCm39)	S132P	probably benign	Het
Cyp4f13	G	T	17: 33,149,582 (GRCm39)	H85N	probably benign	Het
Dcaf15	C	T	8: 84,828,445 (GRCm39)	G215D	probably damaging	Het
Dip2a	T	C	10: 76,134,101 (GRCm39)	T500A	probably benign	Het
Gbe1	T	A	16: 70,231,546 (GRCm39)		probably benign	Het
Gli2	T	A	1: 118,763,733 (GRCm39)	I1473F	probably damaging	Het
Gm5129	A	T	5: 29,940,861 (GRCm39)		probably benign	Het
Hdgf	C	T	3: 87,821,792 (GRCm39)	R168C	probably damaging	Het
Heph	A	G	X: 95,516,633 (GRCm39)	T342A	probably benign	Het
Kdelr3	T	C	15: 79,409,988 (GRCm39)	Y158H	probably damaging	Het
Lamb3	C	T	1: 193,010,253 (GRCm39)	R289C	probably damaging	Het
Leng8	C	T	7: 4,145,092 (GRCm39)	A164V	probably damaging	Het
Ltn1	T	C	16: 87,194,889 (GRCm39)	T1337A	probably benign	Het
Mast3	C	A	8: 71,233,202 (GRCm39)	R316L	possibly damaging	Het
Nampt	A	G	12: 32,880,215 (GRCm39)	Y36C	probably damaging	Het
Ncapd3	T	A	9: 26,975,264 (GRCm39)		probably benign	Het
Nipbl	T	C	15: 8,388,558 (GRCm39)	D354G	probably damaging	Het
Nsd1	A	T	13: 55,461,254 (GRCm39)	R2494W	probably damaging	Het
Nt5c1a	A	G	4: 123,108,034 (GRCm39)	N239S	probably benign	Het
Ogfr	A	G	2: 180,231,329 (GRCm39)	E19G	possibly damaging	Het
Or11h4b	A	T	14: 50,918,657 (GRCm39)	S145T	probably benign	Het
Pcna	A	T	2: 132,093,155 (GRCm39)		probably benign	Het
Pdia3	T	A	2: 121,264,129 (GRCm39)	V326E	probably damaging	Het
Phf8	T	A	X: 150,414,356 (GRCm39)	L1002Q	possibly damaging	Het
Rhobtb2	T	C	14: 70,033,365 (GRCm39)	E535G	probably damaging	Het
Rusc2	G	T	4: 43,415,545 (GRCm39)	D284Y	probably damaging	Het
Samd8	A	G	14: 21,825,491 (GRCm39)	Y212C	probably benign	Het
Sash3	C	A	X: 47,247,672 (GRCm39)	Q169K	probably benign	Het
Scyl1	C	T	19: 5,816,224 (GRCm39)	G324S	probably damaging	Het
Sec62	G	A	3: 30,872,996 (GRCm39)	G360R	unknown	Het
Sis	T	C	3: 72,826,947 (GRCm39)		probably null	Het
Slc6a1	T	A	6: 114,285,578 (GRCm39)	I338N	probably damaging	Het
Snrnp200	A	G	2: 127,058,030 (GRCm39)	D264G	probably damaging	Het
Tgm3	G	T	2: 129,871,961 (GRCm39)		probably null	Het
Tnrc6b	T	G	15: 80,764,658 (GRCm39)	L720R	probably damaging	Het
Tspyl4	A	T	10: 34,174,228 (GRCm39)	Q240L	probably damaging	Het
Tube1	G	A	10: 39,016,846 (GRCm39)	V80I	probably damaging	Het
Uap1l1	C	T	2: 25,253,945 (GRCm39)	V304M	probably damaging	Het
Wtap	T	C	17: 13,186,620 (GRCm39)	N309S	probably benign	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zfyve26	T	C	12: 79,315,621 (GRCm39)	D1285G	probably benign	Het
Zscan20	G	A	4: 128,482,210 (GRCm39)	T484I	probably damaging	Het

Other mutations in Or4c58

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01661:Or4c58	APN	2	89,674,439 (GRCm39)	missense	probably benign	0.00
IGL02184:Or4c58	APN	2	89,674,729 (GRCm39)	missense	probably damaging	0.98
IGL02408:Or4c58	APN	2	89,675,315 (GRCm39)	start codon destroyed	probably benign	0.04
IGL02985:Or4c58	APN	2	89,674,684 (GRCm39)	missense	possibly damaging	0.66
IGL03230:Or4c58	APN	2	89,674,457 (GRCm39)	missense	probably benign
IGL03393:Or4c58	APN	2	89,674,913 (GRCm39)	missense	probably benign	0.00
R0482:Or4c58	UTSW	2	89,674,513 (GRCm39)	missense	probably benign	0.20
R0555:Or4c58	UTSW	2	89,674,787 (GRCm39)	missense	probably benign	0.00
R1268:Or4c58	UTSW	2	89,674,498 (GRCm39)	missense	probably damaging	0.98
R1617:Or4c58	UTSW	2	89,674,598 (GRCm39)	missense	probably benign	0.03
R3552:Or4c58	UTSW	2	89,674,687 (GRCm39)	missense	possibly damaging	0.53
R4172:Or4c58	UTSW	2	89,675,122 (GRCm39)	missense	probably damaging	1.00
R4173:Or4c58	UTSW	2	89,675,122 (GRCm39)	missense	probably damaging	1.00
R4174:Or4c58	UTSW	2	89,675,122 (GRCm39)	missense	probably damaging	1.00
R5540:Or4c58	UTSW	2	89,675,011 (GRCm39)	missense	probably damaging	1.00
R5909:Or4c58	UTSW	2	89,674,735 (GRCm39)	missense	possibly damaging	0.89
R5941:Or4c58	UTSW	2	89,674,859 (GRCm39)	missense	probably benign	0.07
R7425:Or4c58	UTSW	2	89,674,789 (GRCm39)	missense	probably damaging	0.99
R7445:Or4c58	UTSW	2	89,674,616 (GRCm39)	missense	probably damaging	0.99
R7660:Or4c58	UTSW	2	89,674,787 (GRCm39)	missense	probably benign	0.00
R7978:Or4c58	UTSW	2	89,674,611 (GRCm39)	nonsense	probably null
R7996:Or4c58	UTSW	2	89,674,759 (GRCm39)	missense	probably benign	0.28
R8026:Or4c58	UTSW	2	89,675,273 (GRCm39)	missense	probably benign	0.06
R9184:Or4c58	UTSW	2	89,675,294 (GRCm39)	missense	probably benign	0.06
R9420:Or4c58	UTSW	2	89,674,715 (GRCm39)	missense	probably benign	0.14

Posted On

2015-04-16