Mutagenetix > Incidental Mutation

Incidental Mutation 'R9429:Olfr513'

712809

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

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R9429 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108750973-108756800 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 108755205 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 116 (M116I)

Ref Sequence

ENSEMBL: ENSMUSP00000149440 (fasta)

Gene Model

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

AlphaFold

Q8VFZ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000055146
AA Change: M116I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000050578
Gene: ENSMUSG00000051200
AA Change: M116I

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 damaging
Transcript: ENSMUST00000214670
AA Change: M116I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700081O15Rik	T	C	19: 7,422,229	L447P	probably damaging	Het
5430403G16Rik	A	T	5: 109,676,468	L372*	probably null	Het
5930422O12Rik	A	T	8: 33,429,137		probably benign	Het
Adam7	G	C	14: 68,533,631	H15Q	probably null	Het
Adgrv1	A	T	13: 81,419,349	I5235N	probably damaging	Het
Adgrv1	A	C	13: 81,593,046	C100G	probably damaging	Het
Aebp1	A	G	11: 5,871,649	T1063A	probably benign	Het
Atmin	A	G	8: 116,943,568	R48G	probably benign	Het
Atxn10	A	G	15: 85,462,364	E441G	probably benign	Het
Catsper1	T	C	19: 5,339,727	V505A	possibly damaging	Het
Chd5	T	C	4: 152,362,907	V471A	probably damaging	Het
Cma2	A	G	14: 55,972,819	I110V	possibly damaging	Het
Cnst	A	C	1: 179,605,001	N243T	probably damaging	Het
Col15a1	A	T	4: 47,310,439	N1203I	probably damaging	Het
Col6a3	T	A	1: 90,803,863	H1556L	probably benign	Het
Crybg3	T	A	16: 59,555,193	K185N	probably benign	Het
Dnah1	G	A	14: 31,275,542	Q2620*	probably null	Het
Dusp10	A	C	1: 184,068,894	D286A	probably benign	Het
Erich6	A	G	3: 58,629,514	V252A	possibly damaging	Het
Fhod1	A	G	8: 105,330,507	L945P	probably damaging	Het
Foxh1	C	T	15: 76,669,242	R120Q	probably null	Het
Frmd4b	T	C	6: 97,302,291	D591G	probably damaging	Het
Gbe1	G	A	16: 70,495,315	V512I	probably benign	Het
Ghitm	A	G	14: 37,130,698	S142P	probably damaging	Het
Gldc	C	T	19: 30,113,772	A808T	possibly damaging	Het
Gm14496	C	T	2: 181,996,141	T336I	possibly damaging	Het
Gm38394	A	C	1: 133,657,715	I628R	probably damaging	Het
Gm498	G	T	7: 143,881,165		probably null	Het
Ido2	T	C	8: 24,547,178	T171A	probably damaging	Het
Kctd19	A	T	8: 105,383,020	I930N	probably damaging	Het
Kctd2	T	C	11: 115,427,451	Y187H	probably damaging	Het
L3hypdh	T	C	12: 72,077,429	T246A	probably damaging	Het
Lama1	A	G	17: 67,811,454	M2554V		Het
Laptm5	A	G	4: 130,928,650	Y93C		Het
Mroh2b	T	A	15: 4,934,425	L833Q	probably damaging	Het
Ms4a12	T	C	19: 11,216,060	D187G	probably damaging	Het
Muc4	C	T	16: 32,755,724	T1866I	unknown	Het
Myo1a	G	T	10: 127,707,378	D168Y	probably damaging	Het
Nek1	C	T	8: 61,106,858	S1005L	probably benign	Het
Nrg1	T	A	8: 31,818,564	M523L	probably benign	Het
Nt5c2	T	A	19: 46,889,020	H494L	probably benign	Het
Oasl2	G	A	5: 114,904,979	V271I	probably benign	Het
Olfr211	T	G	6: 116,494,331	S241A	probably damaging	Het
Olfr593	C	T	7: 103,212,664	A268V	possibly damaging	Het
Per2	T	C	1: 91,423,767	T1006A	probably benign	Het
Phyhd1	C	A	2: 30,266,905	F19L	probably benign	Het
Pter	T	A	2: 12,980,301	D147E	probably benign	Het
Rps6ka1	A	C	4: 133,871,589	L90V	probably damaging	Het
Rrp15	A	T	1: 186,749,171	D46E	probably benign	Het
Ryr2	A	G	13: 11,794,573	F789L	probably damaging	Het
Sepsecs	T	C	5: 52,643,952	K456R	probably benign	Het
Sept11	G	A	5: 93,173,538		probably null	Het
Sowahb	T	C	5: 93,043,221	I546M	possibly damaging	Het
Spata31	C	A	13: 64,922,522	T828K	probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638		probably benign	Het
Ston1	A	G	17: 88,635,606	T147A	probably benign	Het
Tcf3	G	A	10: 80,416,602	P350S	probably benign	Het
Tek	A	G	4: 94,827,278	D402G	probably benign	Het
Themis3	T	C	17: 66,559,670	R192G	probably damaging	Het
Tmc1	T	A	19: 20,816,184	I538F	possibly damaging	Het
Trpc3	T	G	3: 36,651,628	I473L	probably benign	Het
Ttll2	A	T	17: 7,352,686	L4Q	probably damaging	Het
Urb2	T	A	8: 124,023,487	Y5*	probably null	Het
Vav3	T	A	3: 109,657,245	Y673*	probably null	Het
Vmn1r32	T	A	6: 66,553,253	T180S	probably benign	Het
Vmn1r90	A	T	7: 14,561,722	N150K	probably damaging	Het
Zfp72	A	G	13: 74,372,584	I125T	probably damaging	Het
Zfp750	G	A	11: 121,513,867	R61C	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
R8385:Olfr513	UTSW	7	108755304	nonsense	probably null
R9746:Olfr513	UTSW	7	108755432	missense	probably benign
Z1088:Olfr513	UTSW	7	108755104	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- AACCTTGGCATGATCTTGCTC -3'
(R):5'- AGTGGTGGATCACATTGGAG -3'

Sequencing Primer
(F):5'- TTGCTCATCAAGGCAGATTCCAG -3'
(R):5'- TCACATTGGAGTTGCAGAAAGAC -3'

Posted On

2022-05-16