Mutagenetix > Incidental Mutations

Incidental Mutation 'R8385:Olfr513'

647122

Institutional Source

Beutler Lab

Gene Symbol

Olfr513

Ensembl Gene

ENSMUSG00000051200

Gene Name

olfactory receptor 513

Synonyms

MOR195-1, GA_x6K02T2PBJ9-11084889-11085818

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R8385 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108750973-108756800 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to G at 108755304 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 149 (Y149*)

Ref Sequence

ENSEMBL: ENSMUSP00000149440 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055146] [ENSMUST00000214670]

AlphaFold

Q8VFZ3

Predicted Effect

probably null
Transcript: ENSMUST00000055146
AA Change: Y149*

SMART Domains

Protein: ENSMUSP00000050578
Gene: ENSMUSG00000051200
AA Change: Y149*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	307	2.7e-55	PFAM
Pfam:7TM_GPCR_Srsx	33	304	2.3e-6	PFAM
Pfam:7tm_1	39	289	2.8e-20	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000214670
AA Change: Y149*

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930572O03Rik	A	T	5: 15,652,671	S203T	unknown	Het
4933406M09Rik	A	G	1: 134,390,638	K383E	probably benign	Het
Brap	C	T	5: 121,685,134	T473I	probably benign	Het
Cacna1e	T	A	1: 154,443,941	M1400L	probably damaging	Het
Casc1	C	T	6: 145,175,192	E685K	probably damaging	Het
Catsper2	A	G	2: 121,410,140	I127T	possibly damaging	Het
Dbt	A	T	3: 116,523,390	I72F	probably damaging	Het
Ddhd2	T	C	8: 25,735,014	H592R	probably damaging	Het
Disp2	T	A	2: 118,790,410	M541K	probably damaging	Het
Dnmbp	T	C	19: 43,889,651	D327G	probably benign	Het
Dvl1	A	G	4: 155,855,580	S390G	possibly damaging	Het
Fam205a1	C	T	4: 42,850,509	R549H	possibly damaging	Het
Fbxo22	A	G	9: 55,213,949	D106G	probably damaging	Het
Gfm2	A	G	13: 97,165,011	T441A	probably benign	Het
Gm5431	T	C	11: 48,889,520	I192V	probably damaging	Het
Gosr1	T	A	11: 76,730,141	T241S	possibly damaging	Het
Hk2	T	C	6: 82,729,546	S792G	probably benign	Het
Itsn1	A	C	16: 91,893,811	K1302Q	unknown	Het
Kif16b	T	C	2: 142,712,338	K847E	probably benign	Het
Lfng	G	A	5: 140,613,226	E297K	probably damaging	Het
Mark3	A	G	12: 111,655,374	D650G	possibly damaging	Het
Mob3b	T	C	4: 34,985,980	Y186C	probably damaging	Het
Mphosph9	T	C	5: 124,312,722	K329E	probably benign	Het
Mta1	A	T	12: 113,131,465	M448L	probably benign	Het
Mterf1a	A	T	5: 3,891,384	N161K	probably damaging	Het
Myo10	T	A	15: 25,804,398	I1593N	probably damaging	Het
Naca	A	G	10: 128,042,438	N1113S	unknown	Het
Olfr1362	T	C	13: 21,611,352	I206V	probably benign	Het
Pcdhga1	A	T	18: 37,662,096	D51V	probably damaging	Het
Peg3	T	C	7: 6,708,083	E1380G	probably damaging	Het
Pkd1	G	A	17: 24,575,728	V2130M	possibly damaging	Het
Pla2g4c	C	T	7: 13,329,664	P19S	probably benign	Het
Popdc2	G	A	16: 38,362,900	V82I	probably benign	Het
Ppfibp2	A	G	7: 107,697,687	R203G	probably benign	Het
Rab19	T	A	6: 39,383,958	N13K	probably benign	Het
Raet1d	T	A	10: 22,370,918	D48E	probably benign	Het
Rell1	T	A	5: 63,930,518	K136*	probably null	Het
Slc38a4	A	G	15: 96,999,512	I474T	probably damaging	Het
Slf1	T	C	13: 77,105,990	M243V	probably benign	Het
Spg11	A	T	2: 122,097,321	S661T	probably benign	Het
Thra	C	G	11: 98,768,351	S435R	probably benign	Het
Tmem181a	T	C	17: 6,288,999	I61T	probably benign	Het
Ttpa	G	A	4: 20,028,483	G247S	probably damaging	Het
Usp17lb	C	T	7: 104,840,623	V366I	possibly damaging	Het
Vit	A	T	17: 78,619,637	Q337L	probably benign	Het
Vmn2r102	A	G	17: 19,693,826	Y551C	possibly damaging	Het
Vps52	T	C	17: 33,962,817	L539P	probably damaging	Het
Ythdc1	C	A	5: 86,828,102	P529T	possibly damaging	Het
Zdhhc13	T	C	7: 48,805,696		probably null	Het
Zfp282	A	T	6: 47,905,089	Y570F	possibly damaging	Het
Zfp872	A	T	9: 22,200,111	K295N	probably damaging	Het

Other mutations in Olfr513

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02491:Olfr513	APN	7	108755114	missense	probably damaging	1.00
IGL03086:Olfr513	APN	7	108755796	utr 3 prime	probably benign
FR4340:Olfr513	UTSW	7	108754954	small insertion	probably benign
IGL02799:Olfr513	UTSW	7	108755623	missense	probably benign
R0218:Olfr513	UTSW	7	108755574	nonsense	probably null
R1103:Olfr513	UTSW	7	108754883	missense	possibly damaging	0.92
R1251:Olfr513	UTSW	7	108754907	missense	probably damaging	0.99
R1450:Olfr513	UTSW	7	108755512	missense	probably damaging	1.00
R1582:Olfr513	UTSW	7	108755110	missense	probably benign	0.04
R1608:Olfr513	UTSW	7	108755102	missense	probably damaging	0.99
R1726:Olfr513	UTSW	7	108755008	missense	probably benign	0.00
R1880:Olfr513	UTSW	7	108755128	missense	probably damaging	1.00
R1881:Olfr513	UTSW	7	108755128	missense	probably damaging	1.00
R2136:Olfr513	UTSW	7	108755223	missense	possibly damaging	0.58
R2216:Olfr513	UTSW	7	108755612	missense	probably damaging	1.00
R4006:Olfr513	UTSW	7	108755261	missense	probably damaging	1.00
R4603:Olfr513	UTSW	7	108755627	missense	probably damaging	1.00
R4881:Olfr513	UTSW	7	108755405	missense	probably damaging	1.00
R5132:Olfr513	UTSW	7	108755270	missense	probably damaging	1.00
R5426:Olfr513	UTSW	7	108755717	missense	possibly damaging	0.94
R5679:Olfr513	UTSW	7	108754996	missense	probably damaging	0.97
R5848:Olfr513	UTSW	7	108755574	nonsense	probably null
R5911:Olfr513	UTSW	7	108755675	missense	probably benign	0.36
R6474:Olfr513	UTSW	7	108755029	missense	probably damaging	1.00
R7016:Olfr513	UTSW	7	108755711	missense	probably damaging	1.00
R7783:Olfr513	UTSW	7	108755569	missense	probably damaging	1.00
R8113:Olfr513	UTSW	7	108755231	missense	probably damaging	1.00
R9429:Olfr513	UTSW	7	108755205	missense	probably damaging	0.98
Z1088:Olfr513	UTSW	7	108755104	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- AAACCATCTCCTTTTCAGGCTG -3'
(R):5'- ATGCTTTACACTTGCCCTGGG -3'

Sequencing Primer
(F):5'- GTTTTGCTCAGCTGTACTTCTCCAG -3'
(R):5'- TCATGAGGGATCCAGTGAGATTC -3'

Posted On

2020-09-02