Mutagenetix > Incidental Mutation

Incidental Mutation 'R3552:Or4c58'

268972

Institutional Source

Beutler Lab

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

MMRRC Submission

040669-MU

Accession Numbers

Essential gene?

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

Stock #

R3552 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89674410-89675315 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 89674687 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 210 (M210R)

Ref Sequence

ENSEMBL: ENSMUSP00000150505 (fasta)

Gene Model

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

AlphaFold

Q8VGN4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099762
AA Change: M210R

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000097350
Gene: ENSMUSG00000075072
AA Change: M210R

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

possibly damaging
Transcript: ENSMUST00000214428
AA Change: M210R

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000215613

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216674

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.4%

Validation Efficiency

100% (66/66)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,152,450 (GRCm39)	Y866N	probably damaging	Het
Agk	A	G	6: 40,371,615 (GRCm39)	T371A	probably benign	Het
Akna	T	C	4: 63,316,361 (GRCm39)	M1V	probably null	Het
Aldh7a1	T	C	18: 56,683,364 (GRCm39)		probably null	Het
Ankrd26	A	T	6: 118,484,737 (GRCm39)	L1500H	probably damaging	Het
Atp13a5	T	A	16: 29,129,584 (GRCm39)	D452V	probably damaging	Het
Bahcc1	C	T	11: 120,167,598 (GRCm39)	T1333M	possibly damaging	Het
Carmil3	G	T	14: 55,744,859 (GRCm39)	R1276L	possibly damaging	Het
Ccni	T	C	5: 93,335,620 (GRCm39)	S173G	probably benign	Het
Chrm2	A	T	6: 36,500,745 (GRCm39)	I201F	probably damaging	Het
Col16a1	A	G	4: 129,970,834 (GRCm39)	T618A	probably benign	Het
Dele1	A	G	18: 38,391,418 (GRCm39)		probably benign	Het
Dock2	T	C	11: 34,611,787 (GRCm39)	Y192C	probably benign	Het
Ep400	T	A	5: 110,877,153 (GRCm39)	E821V	unknown	Het
Esrrg	G	A	1: 187,882,387 (GRCm39)	V215I	probably benign	Het
Evx1	A	T	6: 52,293,908 (GRCm39)	S359C	probably damaging	Het
Fcrl2	A	G	3: 87,166,717 (GRCm39)	I92T	possibly damaging	Het
Gal3st1	T	A	11: 3,948,110 (GRCm39)	F106I	possibly damaging	Het
Gm9944	T	C	4: 144,179,613 (GRCm39)		probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hrc	G	C	7: 44,985,757 (GRCm39)	E303Q	possibly damaging	Het
Kcnh1	A	G	1: 191,921,074 (GRCm39)	N118D	probably damaging	Het
Khdrbs1	A	G	4: 129,614,584 (GRCm39)	I323T	possibly damaging	Het
Klhdc7b	T	C	15: 89,271,724 (GRCm39)	Y869H	probably benign	Het
Lrrc4c	T	A	2: 97,460,306 (GRCm39)	W311R	probably damaging	Het
Megf11	A	G	9: 64,602,745 (GRCm39)	D862G	possibly damaging	Het
Muc5b	A	G	7: 141,415,072 (GRCm39)	T2673A	possibly damaging	Het
Muc5b	A	G	7: 141,421,442 (GRCm39)	S4311G	probably benign	Het
Myo15a	C	T	11: 60,400,489 (GRCm39)	A1767V	possibly damaging	Het
Neo1	T	A	9: 58,801,161 (GRCm39)	K1140M	probably damaging	Het
Oc90	T	C	15: 65,750,650 (GRCm39)	Q365R	possibly damaging	Het
Oplah	C	T	15: 76,186,294 (GRCm39)	D734N	possibly damaging	Het
Or1e19	T	C	11: 73,316,678 (GRCm39)	I44V	probably benign	Het
Or9g3	T	C	2: 85,590,237 (GRCm39)	N161S	possibly damaging	Het
Pbx1	G	A	1: 167,986,362 (GRCm39)	P411L	possibly damaging	Het
Pcdhga6	G	T	18: 37,841,270 (GRCm39)	R330L	probably benign	Het
Phox2b	C	A	5: 67,254,999 (GRCm39)	R150L	probably damaging	Het
Plscr2	A	G	9: 92,172,848 (GRCm39)	E169G	probably damaging	Het
Ptprn2	A	T	12: 116,852,497 (GRCm39)	Q518L	probably benign	Het
Rbl1	A	T	2: 157,037,505 (GRCm39)	I214K	probably benign	Het
Ryr1	T	A	7: 28,756,422 (GRCm39)	Q3464L	probably damaging	Het
Ryr3	T	A	2: 112,582,132 (GRCm39)	I2854F	probably damaging	Het
Shtn1	T	C	19: 58,963,470 (GRCm39)	Y615C	probably benign	Het
Sirt5	A	T	13: 43,536,643 (GRCm39)	N226Y	probably damaging	Het
Slc30a3	G	A	5: 31,252,422 (GRCm39)		probably benign	Het
Slc5a4b	A	G	10: 75,917,358 (GRCm39)	V226A	probably damaging	Het
Slf2	C	A	19: 44,923,390 (GRCm39)	S68*	probably null	Het
Smyd5	G	A	6: 85,419,193 (GRCm39)	E292K	probably damaging	Het
Spns1	A	G	7: 125,969,543 (GRCm39)	V512A	possibly damaging	Het
Sry	T	A	Y: 2,663,141 (GRCm39)	Q173L	unknown	Het
Ssrp1	C	A	2: 84,874,736 (GRCm39)	Q519K	probably benign	Het
Tgfbr3	T	C	5: 107,287,705 (GRCm39)	E498G	probably damaging	Het
Tnrc6b	T	G	15: 80,764,448 (GRCm39)	L650W	probably damaging	Het
Tnxb	A	T	17: 34,937,695 (GRCm39)	E3861D	probably damaging	Het
Trbc1	G	T	6: 41,516,579 (GRCm39)		probably benign	Het
Trpm7	T	A	2: 126,668,630 (GRCm39)		probably benign	Het
Usp39	G	A	6: 72,314,815 (GRCm39)	T197I	possibly damaging	Het
Vmn1r38	T	C	6: 66,753,477 (GRCm39)	H213R	possibly damaging	Het
Washc2	A	G	6: 116,197,529 (GRCm39)	D168G	probably damaging	Het
Washc4	A	G	10: 83,382,720 (GRCm39)	I45V	probably benign	Het
Zfp352	A	G	4: 90,113,339 (GRCm39)	E493G	probably benign	Het
Zfp692	C	T	11: 58,200,254 (GRCm39)	T170I	possibly damaging	Het
Zfp735	C	A	11: 73,602,067 (GRCm39)	S337*	probably null	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
IGL02437:Or4c58	APN	2	89,675,128 (GRCm39)	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- CACCGCTTTATCAATAGAGAAGG -3'
(R):5'- TCTGTAAACCGCTGCGCTAC -3'

Sequencing Primer
(F):5'- GTAATTACTGGGCGAAGATACAC -3'
(R):5'- GGTTTTATTCATGCGACCATTCAG -3'

Posted On

2015-02-19