Mutagenetix > Incidental Mutation

Incidental Mutation 'R1617:Or4c58'

174331

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

039654-MU

Accession Numbers

Essential gene?

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

Stock #

R1617 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89674410-89675315 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89674598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 240 (T240A)

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: T240A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000097350
Gene: ENSMUSG00000075072
AA Change: T240A

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: T240A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000215613

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216674

Meta Mutation Damage Score

0.1532

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 91.0%

Validation Efficiency

98% (83/85)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,603,473 (GRCm39)	I91K	probably damaging	Het
AAdacl4fm3	T	G	4: 144,441,961 (GRCm39)	T97P	probably damaging	Het
Adamts16	T	A	13: 70,946,154 (GRCm39)	M254L	probably benign	Het
Adgre5	T	C	8: 84,456,806 (GRCm39)	I192V	possibly damaging	Het
Akr1c21	G	A	13: 4,626,351 (GRCm39)		probably null	Het
Amz2	A	G	11: 109,324,850 (GRCm39)	T245A	probably benign	Het
Aqp7	A	C	4: 41,036,109 (GRCm39)	M43R	probably null	Het
Arid3c	G	A	4: 41,725,103 (GRCm39)	P315S	probably damaging	Het
Birc2	A	T	9: 7,826,952 (GRCm39)	Y345N	possibly damaging	Het
Blnk	T	C	19: 40,950,807 (GRCm39)	T115A	probably benign	Het
Col5a1	T	C	2: 27,842,393 (GRCm39)	S423P	unknown	Het
Corin	A	T	5: 72,661,295 (GRCm39)	F66Y	possibly damaging	Het
Cpd	A	T	11: 76,737,495 (GRCm39)	W100R	probably damaging	Het
Cpsf1	A	T	15: 76,486,570 (GRCm39)	Y296*	probably null	Het
Cyp2d34	T	C	15: 82,505,046 (GRCm39)	T5A	probably benign	Het
Dhrs7c	G	T	11: 67,705,903 (GRCm39)	V219L	possibly damaging	Het
Dnah3	T	C	7: 119,689,169 (GRCm39)	M82V	probably benign	Het
Dnah9	A	G	11: 65,786,747 (GRCm39)	S3629P	probably damaging	Het
Fbrs	T	C	7: 127,086,883 (GRCm39)	L33P	probably damaging	Het
Fhip1b	A	G	7: 105,034,269 (GRCm39)	L454P	probably damaging	Het
Galnt11	T	A	5: 25,463,891 (GRCm39)	S388T	probably damaging	Het
Glmp	A	G	3: 88,235,426 (GRCm39)		probably benign	Het
Gm9894	A	G	13: 67,920,845 (GRCm39)		noncoding transcript	Het
Grik3	A	G	4: 125,584,985 (GRCm39)	M618V	probably benign	Het
Hmcn1	T	C	1: 150,620,778 (GRCm39)	D1144G	probably damaging	Het
Hnrnpa2b1	T	C	6: 51,443,378 (GRCm39)	K161R	possibly damaging	Het
Kmt2c	T	C	5: 25,580,925 (GRCm39)	I523V	probably benign	Het
Lmln	C	T	16: 32,937,500 (GRCm39)	P622S	probably damaging	Het
Lmtk2	A	G	5: 144,110,680 (GRCm39)	T467A	probably damaging	Het
Map1s	T	A	8: 71,366,095 (GRCm39)	N333K	probably damaging	Het
Mgat4d	C	A	8: 84,092,340 (GRCm39)	A242D	probably damaging	Het
Muc5b	T	A	7: 141,417,261 (GRCm39)	Y3402*	probably null	Het
Myo3b	G	T	2: 70,111,562 (GRCm39)	A922S	probably benign	Het
Nphs1	T	C	7: 30,181,956 (GRCm39)	V1183A	probably benign	Het
Nup160	T	A	2: 90,509,843 (GRCm39)	C31S	probably benign	Het
Or8k25	A	T	2: 86,244,035 (GRCm39)	Y120*	probably null	Het
Pcdhb5	T	G	18: 37,454,455 (GRCm39)	Y278*	probably null	Het
Pkhd1	T	A	1: 20,268,274 (GRCm39)	E3368V	possibly damaging	Het
Pla2g6	A	G	15: 79,173,341 (GRCm39)	M676T	probably benign	Het
Plcb1	A	T	2: 135,179,361 (GRCm39)	N590Y	probably damaging	Het
Prr12	G	A	7: 44,699,018 (GRCm39)		probably benign	Het
Psat1	A	G	19: 15,901,666 (GRCm39)		probably null	Het
Ptpn9	T	G	9: 56,934,692 (GRCm39)	I152S	possibly damaging	Het
Ric8b	T	A	10: 84,783,475 (GRCm39)	F111Y	probably damaging	Het
Slc44a3	G	A	3: 121,254,914 (GRCm39)	A568V	probably benign	Het
Smarcd3	T	G	5: 24,800,192 (GRCm39)	R213S	probably damaging	Het
Snx13	T	C	12: 35,136,895 (GRCm39)	Y119H	probably damaging	Het
Socs2	C	A	10: 95,248,943 (GRCm39)	E57*	probably null	Het
Spred1	C	T	2: 117,005,828 (GRCm39)	P197S	probably benign	Het
Srek1	G	T	13: 103,880,112 (GRCm39)	P482Q	unknown	Het
Tapbp	A	G	17: 34,139,405 (GRCm39)	T134A	probably benign	Het
Tarbp1	T	C	8: 127,171,007 (GRCm39)	I998V	possibly damaging	Het
Tbcel	G	T	9: 42,372,589 (GRCm39)		probably benign	Het
Tec	A	G	5: 72,939,448 (GRCm39)	F189S	probably damaging	Het
Tmprss11g	A	T	5: 86,647,422 (GRCm39)	Y39N	probably damaging	Het
Tmtc1	A	G	6: 148,256,902 (GRCm39)		probably benign	Het
Trpa1	A	G	1: 14,943,899 (GRCm39)	I1070T	probably damaging	Het
Trpm2	T	A	10: 77,771,709 (GRCm39)		probably null	Het
Ttc21b	G	T	2: 66,056,379 (GRCm39)	T669K	probably benign	Het
Ttll4	G	A	1: 74,718,560 (GRCm39)	R137H	probably benign	Het
Ubqln3	G	T	7: 103,792,067 (GRCm39)	L8I	possibly damaging	Het
Ung	C	A	5: 114,269,415 (GRCm39)	N42K	probably benign	Het
Upp1	T	C	11: 9,084,865 (GRCm39)	S195P	probably damaging	Het
Urb1	T	C	16: 90,557,340 (GRCm39)	E1762G	possibly damaging	Het
Utp11	T	C	4: 124,579,904 (GRCm39)	K35E	probably damaging	Het
Vav3	A	T	3: 109,418,294 (GRCm39)	K305I	probably damaging	Het
Vmn1r197	A	G	13: 22,512,498 (GRCm39)	I140V	possibly damaging	Het
Vmn2r-ps158	A	G	7: 42,673,503 (GRCm39)	E187G	probably benign	Het
Zfc3h1	A	G	10: 115,226,827 (GRCm39)	T295A	probably benign	Het
Zfp268	A	T	4: 145,350,877 (GRCm39)		probably benign	Het
Zfp46	T	C	4: 136,017,823 (GRCm39)	L219P	probably damaging	Het
Zfp493	G	A	13: 67,931,999 (GRCm39)	V33M	probably damaging	Het
Zfp92	T	C	X: 72,463,466 (GRCm39)		probably benign	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
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

Predicted Primers

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

Sequencing Primer
(F):5'- ACTTTGATACAGAGTTTCTTCATAGC -3'
(R):5'- CCCTTTGCTGAAACTTGTTTGTATG -3'

Posted On

2014-04-24