Mutagenetix > Incidental Mutations

Incidental Mutation 'R7783:Olfr513'

599379

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 #

R7783 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108750973-108756800 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108755569 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 238 (T238S)

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: T238S

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

SMART Domains

Protein: ENSMUSP00000050578
Gene: ENSMUSG00000051200
AA Change: T238S

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: T238S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	G	T	5: 124,078,812	Y447*	probably null	Het
Abl2	T	C	1: 156,559,071	V8A	probably benign	Het
Adam33	C	T	2: 131,058,337	R103K	unknown	Het
Adamts13	G	T	2: 26,990,585	A727S	not run	Het
Alpk2	A	T	18: 65,306,254	C689*	probably null	Het
Amt	C	T	9: 108,297,215	Q60*	probably null	Het
Ankrd12	A	G	17: 66,027,250		probably null	Het
Ankrd28	A	T	14: 31,706,813	N920K	probably damaging	Het
Ankrd36	T	C	11: 5,635,359	L390P	probably damaging	Het
Arvcf	T	G	16: 18,389,198	H7Q	probably benign	Het
Asns	A	G	6: 7,677,978	S367P	probably damaging	Het
BC005537	C	T	13: 24,803,399	R7W	possibly damaging	Het
C7	T	A	15: 5,007,710	H562L	probably benign	Het
Ccdc77	T	C	6: 120,350,373	D37G	probably damaging	Het
Cdc14a	C	T	3: 116,404,587	A58T	probably damaging	Het
Cdc42bpb	C	T	12: 111,336,025		probably null	Het
Corin	A	T	5: 72,301,624	F1068L	probably benign	Het
Epb42	T	G	2: 121,034,435	K58N	probably benign	Het
Ercc3	T	A	18: 32,248,243	S371T	probably damaging	Het
Fam193a	A	C	5: 34,431,180	K358Q	probably damaging	Het
Fem1a	G	A	17: 56,257,522	C205Y	probably benign	Het
Fh1	G	A	1: 175,612,178	T233M	probably damaging	Het
Ftsj3	CCTTCTTCTTCTTCTTCT	CCTTCTTCTTCTTCT	11: 106,252,551		probably benign	Het
Gabra6	T	C	11: 42,316,462	N265S	probably damaging	Het
Gm10801	C	CGTG	2: 98,663,807		probably null	Het
Gm996	A	T	2: 25,577,808	L697Q	probably damaging	Het
Grm6	T	A	11: 50,863,082	C738S	probably damaging	Het
Gtsf1	C	T	15: 103,428,569		probably benign	Het
Hcrtr2	T	A	9: 76,232,914	Y364F	probably damaging	Het
Ick	G	T	9: 78,135,645	V51F	probably damaging	Het
Ifit1bl1	T	C	19: 34,593,936	I374V	probably benign	Het
Il31ra	A	T	13: 112,541,251	F250L	probably benign	Het
Iqgap1	A	G	7: 80,809,059	V37A	probably benign	Het
Izumo3	A	T	4: 92,145,023	I182K	probably damaging	Het
Kidins220	G	A	12: 24,988,556	A36T	probably damaging	Het
Lrrtm1	G	T	6: 77,244,253	R231L	probably damaging	Het
Micalcl	A	T	7: 112,412,976	S678C	probably damaging	Het
Mme	T	G	3: 63,364,867	F629C	probably damaging	Het
Muc5b	T	A	7: 141,857,341	H1341Q	unknown	Het
Olfr1339	T	A	4: 118,734,902	D124E	probably damaging	Het
Olfr1391	A	G	11: 49,328,202	S264G	probably benign	Het
Olfr495	A	G	7: 108,396,089	H323R	probably benign	Het
Olfr61	A	G	7: 140,637,724	T8A	possibly damaging	Het
Parm1	A	T	5: 91,593,865	M31L	probably benign	Het
Pcdhb18	G	A	18: 37,489,821	C68Y	probably benign	Het
Pkn3	A	T	2: 30,079,622	E35V	probably damaging	Het
Pla2g4a	A	T	1: 149,872,744	Y238N	probably damaging	Het
Pld6	T	C	11: 59,787,271	D122G	probably damaging	Het
Prag1	G	T	8: 36,103,255	A331S	possibly damaging	Het
Rbm44	A	G	1: 91,168,829	D970G	probably benign	Het
Rps6kc1	A	G	1: 190,773,654	V1037A	probably benign	Het
Slc12a7	T	C	13: 73,805,469	V766A	probably benign	Het
Spata18	A	G	5: 73,668,610	T87A		Het
St3gal3	T	C	4: 117,940,123	M308V	probably benign	Het
Stx19	T	C	16: 62,822,286	L155S	probably benign	Het
Tespa1	A	T	10: 130,356,883	T145S	probably damaging	Het
Timm21	A	C	18: 84,947,721	F221V	possibly damaging	Het
Tlr1	A	T	5: 64,924,921	F771Y	probably damaging	Het
Tmem150a	C	A	6: 72,358,623	L125I	unknown	Het
Try4	T	C	6: 41,302,295	L4P	possibly damaging	Het
Txlna	C	T	4: 129,632,157	R299H	probably damaging	Het
Txndc16	A	T	14: 45,144,960	N609K	probably benign	Het
Upf1	T	C	8: 70,352,858	T46A	probably benign	Het
Zfp266	T	C	9: 20,500,330	N184D	probably benign	Het
Zfp407	A	G	18: 84,209,922	V1854A	possibly damaging	Het
Zfp626	T	A	7: 27,818,370	C259S	possibly 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
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
Z1088:Olfr513	UTSW	7	108755104	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- ACCACTTCTACTGTGCTGAC -3'
(R):5'- ATGAAGTTTTGCCCTCCAGC -3'

Sequencing Primer
(F):5'- TCACTGGATCCCTCATGA -3'
(R):5'- TTCAGAGTATCCTTTACCTCTGTG -3'

Posted On

2019-11-26