Mutagenetix > Incidental Mutation

Incidental Mutation 'R1881:Olfr513'

209115

Institutional Source

Beutler Lab

Gene Symbol

Olfr513

Ensembl Gene

ENSMUSG00000051200

Gene Name

olfactory receptor 513

Synonyms

MOR195-1, GA_x6K02T2PBJ9-11084889-11085818

MMRRC Submission

039902-MU

Accession Numbers

Essential gene?

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

Stock #

R1881 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108750973-108756800 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108755128 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 91 (S91P)

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: S91P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050578
Gene: ENSMUSG00000051200
AA Change: S91P

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: S91P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.3%

Validation Efficiency

96% (71/74)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	T	A	17: 33,065,284	D848V	probably damaging	Het
Acaca	C	A	11: 84,270,387	Y1026*	probably null	Het
Acaca	T	G	11: 84,300,471		probably benign	Het
Adcy8	C	T	15: 64,806,654	M483I	probably damaging	Het
Adgrb2	G	A	4: 130,010,285	G735S	probably damaging	Het
Akap9	A	G	5: 4,050,173	T2612A	probably benign	Het
Armc1	A	T	3: 19,134,896	S202T	possibly damaging	Het
Arsj	T	C	3: 126,438,837	S411P	probably damaging	Het
Ash1l	T	C	3: 88,981,555	V247A	probably benign	Het
Camta2	T	C	11: 70,672,016	D935G	probably benign	Het
Cc2d2a	G	T	5: 43,740,828	V1626F	probably damaging	Het
Cpne3	T	A	4: 19,535,266	R255S	probably benign	Het
Cramp1l	A	G	17: 24,977,682		probably benign	Het
Csf2rb2	C	T	15: 78,292,535		probably null	Het
Cstf3	A	T	2: 104,654,218	M396L	probably benign	Het
Ctnnd2	A	G	15: 31,005,081		probably benign	Het
Cul7	A	T	17: 46,651,962	Y173F	probably damaging	Het
Dach1	A	T	14: 97,901,396	M537K	probably benign	Het
Ddhd2	T	C	8: 25,727,700	I717V	probably damaging	Het
Dnm1	C	T	2: 32,323,730	V475I	probably damaging	Het
Dnm3	C	T	1: 162,477,948		probably benign	Het
Dsg1c	T	A	18: 20,272,540		probably benign	Het
Eaf2	A	T	16: 36,800,579		probably benign	Het
En1	T	A	1: 120,603,175	V48E	unknown	Het
Eral1	T	A	11: 78,076,049	H180L	possibly damaging	Het
Fry	T	A	5: 150,478,046	C2760S	probably damaging	Het
Gtf2h3	C	T	5: 124,584,273	A113V	probably benign	Het
Hmcn1	C	T	1: 150,638,900	V3574M	probably benign	Het
Ifnl2	T	A	7: 28,509,687	R68W	probably damaging	Het
Il6st	A	G	13: 112,504,413	T908A	probably damaging	Het
Krtap4-1	C	T	11: 99,628,164	G7S	probably null	Het
Ly75	T	C	2: 60,349,940	E631G	probably benign	Het
Mup5	C	A	4: 61,834,631	E52*	probably null	Het
Myh15	A	G	16: 49,071,083	I189V	probably damaging	Het
Nav3	T	A	10: 109,852,559	Q619L	probably damaging	Het
Olfr298	T	C	7: 86,489,438	M38V	probably benign	Het
Olfr59	A	T	11: 74,288,666	T7S	probably benign	Het
Olfr733	A	G	14: 50,299,015	I98T	probably damaging	Het
Pam	T	C	1: 97,923,151	T161A	probably benign	Het
Pigs	T	C	11: 78,341,756	V472A	probably benign	Het
Plek	A	T	11: 16,990,111	N176K	probably benign	Het
Poc5	A	G	13: 96,398,731	N168S	probably benign	Het
Pomt2	G	T	12: 87,135,596	A219D	probably damaging	Het
Rttn	T	A	18: 89,015,212	S716T	probably damaging	Het
Sema4b	A	T	7: 80,216,792	S207C	probably damaging	Het
Slc25a20	G	A	9: 108,680,209		probably null	Het
Slc5a6	A	T	5: 31,036,811	L634Q	probably damaging	Het
Slfn3	A	G	11: 83,213,376	I235V	possibly damaging	Het
Smarcc1	T	A	9: 110,175,099	L407Q	probably damaging	Het
Spata32	T	C	11: 103,210,735		probably benign	Het
Tdrd3	A	G	14: 87,486,347		probably null	Het
Thada	A	G	17: 84,436,702	V726A	probably benign	Het
Tmed7	A	T	18: 46,588,555		probably null	Het
Tmem161a	G	A	8: 70,180,785	G94S	probably null	Het
Tmem81	T	A	1: 132,508,210		probably benign	Het
Trim63	C	A	4: 134,316,391	A55E	probably damaging	Het
Trmt1	A	C	8: 84,689,267		probably benign	Het
Trpv4	C	T	5: 114,623,626	V814M	probably benign	Het
Tshz3	T	C	7: 36,771,654	S1023P	possibly damaging	Het
Upk3bl	G	A	5: 136,057,303	R31Q	probably benign	Het
Usp40	T	C	1: 87,994,271	D290G	probably benign	Het
Vmn1r192	G	T	13: 22,187,594	A152E	probably benign	Het
Vmn1r26	T	A	6: 58,008,665	T180S	probably benign	Het
Wdr48	G	T	9: 119,909,540	V89L	probably benign	Het
Wdr6	G	T	9: 108,573,179		probably null	Het
Zfp345	A	G	2: 150,472,355	Y421H	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
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
R9429:Olfr513	UTSW	7	108755205	missense	probably damaging	0.98
R9746:Olfr513	UTSW	7	108755432	missense	probably benign
Z1088:Olfr513	UTSW	7	108755104	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- ATTCACAGATCGCCCTGAGC -3'
(R):5'- AAGCCATAGGTGTAGACTCCTATC -3'

Sequencing Primer
(F):5'- ACAGATCGCCCTGAGCTTCAG -3'
(R):5'- TAGGTGTAGACTCCTATCACCAG -3'

Posted On

2014-06-30