Mutagenetix > Incidental Mutation

Incidental Mutation 'R9420:Or4c58'

712254

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R9420 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89674410-89675315 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89674715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 201 (I201V)

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: I201V

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000097350
Gene: ENSMUSG00000075072
AA Change: I201V

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: I201V

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000215613

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 119,912,277 (GRCm39)	I56T	probably benign	Het
Adissp	T	C	2: 130,993,682 (GRCm39)		probably null	Het
Akr1c12	A	G	13: 4,325,796 (GRCm39)	L99S	probably damaging	Het
Azin1	C	A	15: 38,493,871 (GRCm39)	V251F	possibly damaging	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
C2cd3	A	T	7: 100,065,262 (GRCm39)	M305L		Het
Casz1	A	G	4: 149,023,320 (GRCm39)	T742A	probably damaging	Het
Cbfa2t2	A	G	2: 154,352,426 (GRCm39)		probably null	Het
Clec2e	T	A	6: 129,071,420 (GRCm39)	Y139F	possibly damaging	Het
Crisp2	T	A	17: 41,094,724 (GRCm39)	N117I	possibly damaging	Het
Ddx52	A	T	11: 83,833,008 (GRCm39)	D2V	probably damaging	Het
Dmpk	T	A	7: 18,824,946 (GRCm39)	V442E	probably benign	Het
Dnah2	A	T	11: 69,368,942 (GRCm39)	M1654K	probably benign	Het
Eln	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	5: 134,739,935 (GRCm39)		probably benign	Het
Erlec1	A	G	11: 30,885,054 (GRCm39)	V411A	probably damaging	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Fry	A	G	5: 150,356,994 (GRCm39)	E1847G	possibly damaging	Het
Gck	A	G	11: 5,899,553 (GRCm39)		probably null	Het
Gga2	T	C	7: 121,603,195 (GRCm39)	D167G	probably damaging	Het
Gprc6a	A	G	10: 51,491,506 (GRCm39)	S748P	probably damaging	Het
H2-M10.2	T	C	17: 36,595,643 (GRCm39)	R216G	probably benign	Het
H2-M2	T	A	17: 37,792,215 (GRCm39)	I312F	probably benign	Het
Havcr2	A	T	11: 46,347,350 (GRCm39)	Y109F	probably damaging	Het
Hoga1	T	C	19: 42,048,333 (GRCm39)	V67A		Het
Ift70b	T	A	2: 75,768,391 (GRCm39)	I121F	possibly damaging	Het
Kcnk12	C	A	17: 88,104,507 (GRCm39)	V126L	possibly damaging	Het
Klc1	A	G	12: 111,738,950 (GRCm39)	E66G	probably damaging	Het
Klhl2	A	T	8: 65,205,870 (GRCm39)	Y350*	probably null	Het
Letm1	T	C	5: 33,926,802 (GRCm39)	H165R	probably damaging	Het
Luc7l2	T	C	6: 38,547,489 (GRCm39)	C36R	probably damaging	Het
Mab21l1	A	G	3: 55,690,674 (GRCm39)	N87S	probably damaging	Het
Mdn1	A	G	4: 32,678,414 (GRCm39)	T681A	probably damaging	Het
Mrc1	C	T	2: 14,312,790 (GRCm39)	T904I	possibly damaging	Het
Mrpl38	A	G	11: 116,023,276 (GRCm39)	S326P	probably damaging	Het
Mtr	T	G	13: 12,268,764 (GRCm39)	K32N	probably benign	Het
Mybpc3	T	A	2: 90,965,478 (GRCm39)	C1128*	probably null	Het
Ncdn	T	C	4: 126,645,762 (GRCm39)	D49G	probably damaging	Het
Nfkbiz	G	A	16: 55,642,337 (GRCm39)	T27I	probably damaging	Het
Npnt	A	T	3: 132,653,866 (GRCm39)	Y38*	probably null	Het
Nrxn2	A	G	19: 6,581,931 (GRCm39)	E1622G	probably benign	Het
Nutm2	T	C	13: 50,626,964 (GRCm39)	I373T	probably damaging	Het
Or51m1	T	C	7: 103,578,980 (GRCm39)	S317P	possibly damaging	Het
Osbp2	A	G	11: 3,662,170 (GRCm39)	S228P	probably damaging	Het
Pbx3	C	T	2: 34,103,348 (GRCm39)	R208Q	probably damaging	Het
Pcdhgb5	T	C	18: 37,864,838 (GRCm39)	V211A	probably benign	Het
Pi16	C	T	17: 29,544,899 (GRCm39)	T151M	probably damaging	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Ptpro	T	C	6: 137,420,933 (GRCm39)	I1068T	probably benign	Het
Rbl1	A	T	2: 157,035,154 (GRCm39)	Y309N	probably damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,134 (GRCm39)		probably benign	Het
Serpina3g	G	C	12: 104,206,518 (GRCm39)	E106D	probably benign	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Son	G	C	16: 91,454,508 (GRCm39)	R1085P	probably damaging	Het
Tasor	A	T	14: 27,163,927 (GRCm39)	I238F	probably damaging	Het
Tbx18	C	A	9: 87,612,675 (GRCm39)	A75S	probably benign	Het
Tmem232	C	A	17: 65,792,881 (GRCm39)	Q105H	probably damaging	Het
Ttc29	A	G	8: 79,060,390 (GRCm39)	I437V	probably benign	Het
Ttn	T	A	2: 76,621,887 (GRCm39)	I15552L	probably damaging	Het
Ttn	T	A	2: 76,750,313 (GRCm39)	T3579S	probably benign	Het
Vps11	A	G	9: 44,267,719 (GRCm39)	F298L	probably benign	Het
Wbp11	T	C	6: 136,791,259 (GRCm39)	T625A	unknown	Het
Xylb	T	A	9: 119,215,428 (GRCm39)	N460K	probably damaging	Het
Znrf4	C	A	17: 56,819,218 (GRCm39)	V30F	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGTAATTACTGGGCGAAGATACAC -3'
(R):5'- TGTAAACCGCTGCGCTACAC -3'

Sequencing Primer
(F):5'- TTACTGGGCGAAGATACACAAATATG -3'
(R):5'- CATTATGAACAGATTTGTGTGTGGCC -3'

Posted On

2022-05-16