Mutagenetix > Incidental Mutation

Incidental Mutation 'R1103:Olfr513'

98266

Institutional Source

Beutler Lab

Gene Symbol

Olfr513

Ensembl Gene

ENSMUSG00000051200

Gene Name

olfactory receptor 513

Synonyms

MOR195-1, GA_x6K02T2PBJ9-11084889-11085818

MMRRC Submission

039176-MU

Accession Numbers

Essential gene?

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

Stock #

R1103 (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 108754883 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 9 (V9A)

Ref Sequence

ENSEMBL: ENSMUSP00000149440 (fasta)

Gene Model

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

AlphaFold

Q8VFZ3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055146
AA Change: V9A

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000050578
Gene: ENSMUSG00000051200
AA Change: V9A

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

possibly damaging
Transcript: ENSMUST00000214670
AA Change: V9A

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.7%

Validation Efficiency

97% (60/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 184,033,505	S119N	probably benign	Het
4930524J08Rik	G	A	5: 99,979,121		probably benign	Het
4932438A13Rik	A	T	3: 36,996,523	M3003L	probably benign	Het
9530053A07Rik	G	T	7: 28,154,520	L1636F	probably damaging	Het
Adam3	T	A	8: 24,714,271		probably benign	Het
Adpgk	A	G	9: 59,313,796	H295R	probably damaging	Het
Aftph	A	T	11: 20,726,547	M199K	probably benign	Het
Ap2a1	C	A	7: 44,904,169		probably benign	Het
Atpaf2	T	C	11: 60,403,950	I216V	probably benign	Het
Bag4	A	T	8: 25,767,863		probably benign	Het
Bud23	T	C	5: 135,061,139	S67G	probably damaging	Het
Cfap157	A	G	2: 32,781,398	F132S	probably damaging	Het
Cngb3	G	A	4: 19,309,658		probably null	Het
Cntnap5a	A	G	1: 116,580,669	I1304V	possibly damaging	Het
Cp	A	G	3: 19,981,985	K764E	possibly damaging	Het
Crebbp	A	G	16: 4,084,061	V2438A	probably damaging	Het
Csmd3	A	T	15: 47,948,006	W1230R	probably damaging	Het
Cul1	G	A	6: 47,517,177	V475I	probably benign	Het
Dnttip2	T	C	3: 122,276,422	S429P	probably benign	Het
Dtwd1	T	C	2: 126,154,723	S43P	probably damaging	Het
Ect2l	T	C	10: 18,140,526	T705A	probably damaging	Het
Erbin	G	T	13: 103,886,202	T43N	probably benign	Het
Flt4	C	T	11: 49,636,339		probably benign	Het
Gm13088	A	C	4: 143,655,372	C251W	probably damaging	Het
Gpr150	G	T	13: 76,055,593	P411Q	probably damaging	Het
Grap	C	A	11: 61,671,718	Q172K	probably benign	Het
Ido2	G	A	8: 24,576,223	T9M	probably benign	Het
Klkb1	C	A	8: 45,276,146	C347F	probably damaging	Het
Klra17	G	A	6: 129,868,843		probably benign	Het
Lama1	T	C	17: 67,790,947	L1774P	probably damaging	Het
Lhpp	A	T	7: 132,610,755	D17V	probably damaging	Het
Lrfn4	T	C	19: 4,613,271	T412A	probably benign	Het
Lrrc7	C	T	3: 158,148,706		probably benign	Het
Ltbp3	A	T	19: 5,747,411		probably null	Het
Ltbp3	G	C	19: 5,747,412		probably null	Het
Luzp1	T	A	4: 136,540,730	L88Q	possibly damaging	Het
Magi2	T	C	5: 20,611,103	I747T	probably damaging	Het
Map1b	A	T	13: 99,427,466		probably benign	Het
Map3k4	A	T	17: 12,237,063		probably null	Het
Map3k5	C	A	10: 20,023,676	D226E	probably benign	Het
Mtf1	T	A	4: 124,838,468	S440T	probably benign	Het
Myo18a	T	A	11: 77,823,330	L389Q	probably damaging	Het
Myom2	A	G	8: 15,110,827	D900G	probably benign	Het
Nfasc	T	C	1: 132,607,057		probably benign	Het
Obscn	A	T	11: 59,021,483	S7044R	probably damaging	Het
Olfr1350	T	A	7: 6,570,112	N40K	probably damaging	Het
Olfr424	T	C	1: 174,136,891	V49A	probably benign	Het
Pde4c	T	A	8: 70,748,417	H421Q	probably damaging	Het
Pnmt	G	T	11: 98,387,676	R156L	probably benign	Het
Rnf138	A	G	18: 21,026,102	E193G	probably damaging	Het
Sesn1	G	T	10: 41,902,593	R346L	possibly damaging	Het
Setd4	G	T	16: 93,585,194	H390Q	probably benign	Het
Supt6	T	C	11: 78,225,473	E688G	possibly damaging	Het
Syne2	G	A	12: 76,109,835	D6802N	probably benign	Het
Syt16	A	G	12: 74,266,898	K533E	probably damaging	Het
Tg	A	T	15: 66,719,655	Q26H	probably benign	Het
Trim33	G	T	3: 103,310,885	W250L	probably damaging	Het
Trip4	A	G	9: 65,880,906	C86R	probably benign	Het
Upf2	T	A	2: 6,026,175	C809S	unknown	Het
Vrk2	A	G	11: 26,549,325	F76L	probably damaging	Het
Zfp804a	A	G	2: 82,257,500	T558A	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
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
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'- GCTGTCTGGCCCTAGACTTAAACTG -3'
(R):5'- AGTACATTGGCGTGTGAAGCCTG -3'

Sequencing Primer
(F):5'- TGGCCCTAGACTTAAACTGAAGAC -3'
(R):5'- AAGCCTGGAATCTGCCTTG -3'

Posted On

2014-01-05