Mutagenetix > Incidental Mutations

Incidental Mutation 'R1879:Olfr652'

211389

Institutional Source

Beutler Lab

Gene Symbol

Olfr652

Ensembl Gene

ENSMUSG00000073927

Gene Name

olfactory receptor 652

Synonyms

MOR31-8, GA_x6K02T2PBJ9-7191524-7192471

MMRRC Submission

039900-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R1879 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104560901-104568634 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104564911 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 230 (V230A)

Ref Sequence

ENSEMBL: ENSMUSP00000152027 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098175] [ENSMUST00000215410] [ENSMUST00000216131] [ENSMUST00000219111]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098175
AA Change: V230A

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000095777
Gene: ENSMUSG00000073927
AA Change: V230A

Domain	Start	End	E-Value	Type
transmembrane domain	7	25	N/A	INTRINSIC
Pfam:7tm_4	36	315	2.6e-105	PFAM
Pfam:7TM_GPCR_Srsx	40	312	6.9e-9	PFAM
Pfam:7tm_1	46	297	4.7e-17	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215410
AA Change: V230A

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216131
AA Change: V230A

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219111
AA Change: V230A

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 97.3%
3x: 96.6%
10x: 94.9%
20x: 91.6%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	T	C	2: 30,796,476	D268G	possibly damaging	Het
8430408G22Rik	G	A	6: 116,651,722	V9M	possibly damaging	Het
Abce1	T	C	8: 79,687,456	N542S	probably benign	Het
Abcf1	T	A	17: 35,961,812	E260D	probably benign	Het
Ahcy	A	G	2: 155,064,152		probably null	Het
Akap13	C	T	7: 75,610,727	A1033V	probably benign	Het
Alkbh6	A	G	7: 30,311,895	N46S	probably damaging	Het
Ankrd34c	A	C	9: 89,730,073	L72V	probably damaging	Het
Arf4	T	A	14: 26,646,921	N25K	probably damaging	Het
Arhgef4	A	G	1: 34,722,440	D259G	unknown	Het
Cavin1	C	A	11: 100,970,210	G86V	probably damaging	Het
Ces1d	G	A	8: 93,189,498	T167I	probably benign	Het
Cfb	T	C	17: 34,860,560	I754V	probably benign	Het
Clcnkb	C	T	4: 141,407,819	R536H	possibly damaging	Het
Clpb	T	G	7: 101,706,483	S181R	probably benign	Het
Col1a1	T	C	11: 94,951,225	M1366T	unknown	Het
Cped1	T	A	6: 22,085,015		probably null	Het
Crip1	G	A	12: 113,153,332	C82Y	probably damaging	Het
Csmd3	T	C	15: 47,657,519	T2810A	possibly damaging	Het
Cyp2b9	A	T	7: 26,198,569	D266V	probably damaging	Het
Cyp46a1	A	G	12: 108,353,126	D294G	probably damaging	Het
Dst	A	G	1: 34,188,843	E1514G	probably benign	Het
Dync1h1	A	G	12: 110,624,636	E1046G	probably benign	Het
Eya2	T	C	2: 165,664,806	V4A	probably benign	Het
Frem3	A	T	8: 80,611,938	R287*	probably null	Het
Fuca2	T	A	10: 13,507,256	C323S	possibly damaging	Het
Ggt7	T	C	2: 155,514,787	E4G	possibly damaging	Het
Gli1	C	T	10: 127,333,737	R383H	probably damaging	Het
Gm4559	C	A	7: 142,274,261	V35F	unknown	Het
Gpm6a	T	A	8: 55,037,330	C14S	probably damaging	Het
Hcn2	A	T	10: 79,726,189	I340F	probably benign	Het
Hdac9	T	A	12: 34,390,333	D349V	probably damaging	Het
Krt34	T	C	11: 100,038,292	D364G	possibly damaging	Het
Mon2	C	T	10: 123,002,885	R1565H	probably damaging	Het
Myb	T	A	10: 21,141,977	M482L	probably benign	Het
Nckap1l	A	T	15: 103,464,601	I294F	probably benign	Het
Nr2e1	A	G	10: 42,568,371		probably null	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Olfr1282	A	T	2: 111,335,463	I205N	possibly damaging	Het
Olfr345	G	T	2: 36,640,189	R50M	possibly damaging	Het
Olfr398	T	A	11: 73,984,542	D22V	probably benign	Het
Pde8b	A	T	13: 95,085,215	I308N	possibly damaging	Het
Pdzd2	T	C	15: 12,373,900	R2050G	possibly damaging	Het
Phc3	C	A	3: 30,914,458	S840I	probably damaging	Het
Piezo2	T	A	18: 63,113,960	Y327F	probably damaging	Het
Pnliprp1	A	T	19: 58,744,084	I460F	probably benign	Het
Pphln1	T	G	15: 93,424,046	D35E	probably damaging	Het
Prdm6	G	A	18: 53,568,217	V360I	probably damaging	Het
Rab35	T	A	5: 115,640,160	W62R	probably damaging	Het
Sct	G	T	7: 141,278,699	P70Q	probably damaging	Het
Sdf4	A	G	4: 156,009,847	N328S	probably damaging	Het
Senp5	A	T	16: 31,983,824	S488R	probably damaging	Het
Serpina3n	A	G	12: 104,408,954	E95G	probably benign	Het
Sfswap	C	T	5: 129,541,328	A442V	probably benign	Het
Sgcd	T	C	11: 47,355,241	I45V	probably benign	Het
Sgcg	T	C	14: 61,236,897		probably null	Het
Slc39a12	G	T	2: 14,444,057	V489L	probably benign	Het
Slc5a11	T	A	7: 123,239,448	I96N	possibly damaging	Het
Slc6a12	A	G	6: 121,347,423	D2G	probably damaging	Het
Slc8a1	T	C	17: 81,648,013	D532G	probably damaging	Het
Smarcd3	C	A	5: 24,593,021	C465F	probably damaging	Het
Smc1b	T	A	15: 85,092,067	Q813L	probably benign	Het
Spag1	G	A	15: 36,181,770	E25K	probably damaging	Het
Sptan1	A	T	2: 29,995,528	N715I	probably damaging	Het
Tas1r2	T	A	4: 139,669,695	Y782N	probably damaging	Het
Thap3	A	T	4: 151,983,136	C162S	probably benign	Het
Topaz1	T	A	9: 122,749,619	D531E	possibly damaging	Het
Vmn1r25	C	T	6: 57,978,927	A126T	possibly damaging	Het
Zfhx2	T	C	14: 55,072,749	Y780C	possibly damaging	Het
Zfhx2	A	G	14: 55,065,617	F1637L	probably benign	Het
Zfp513	T	G	5: 31,200,423	K202T	probably damaging	Het
Zfp956	A	T	6: 47,963,744	T346S	probably benign	Het
Zkscan1	C	T	5: 138,097,148	A219V	probably damaging	Het

Other mutations in Olfr652

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01311:Olfr652	APN	7	104564829	missense	probably damaging	1.00
IGL01620:Olfr652	APN	7	104565013	missense	probably damaging	0.97
IGL01712:Olfr652	APN	7	104565019	missense	probably benign
IGL02211:Olfr652	APN	7	104565126	nonsense	probably null
IGL03328:Olfr652	APN	7	104564470	missense	probably damaging	1.00
K7894:Olfr652	UTSW	7	104564532	missense	probably benign	0.12
R0138:Olfr652	UTSW	7	104565003	missense	probably benign
R0632:Olfr652	UTSW	7	104564337	missense	probably benign	0.00
R1457:Olfr652	UTSW	7	104565071	missense	probably damaging	1.00
R1494:Olfr652	UTSW	7	104564831	nonsense	probably null
R2188:Olfr652	UTSW	7	104564676	missense	probably benign	0.00
R2323:Olfr652	UTSW	7	104564619	missense	probably benign	0.01
R3862:Olfr652	UTSW	7	104564938	missense	probably benign	0.01
R3908:Olfr652	UTSW	7	104564641	missense	probably benign	0.01
R4942:Olfr652	UTSW	7	104565005	missense	probably benign	0.00
R5443:Olfr652	UTSW	7	104564376	missense	probably benign	0.14
R5572:Olfr652	UTSW	7	104564994	missense	probably benign	0.08
R6045:Olfr652	UTSW	7	104564767	missense	probably benign	0.42
R6973:Olfr652	UTSW	7	104564976	missense	probably benign	0.42
R7147:Olfr652	UTSW	7	104564066	start gained	probably benign
R7349:Olfr652	UTSW	7	104564650	missense	probably benign
R7968:Olfr652	UTSW	7	104564650	missense	probably benign	0.01
R8031:Olfr652	UTSW	7	104565109	missense	probably damaging	0.99
R8129:Olfr652	UTSW	7	104564377	missense	probably benign	0.07
R8198:Olfr652	UTSW	7	104564933	missense	probably benign	0.01
R8296:Olfr652	UTSW	7	104564386	missense	probably benign
R8345:Olfr652	UTSW	7	104564224	start codon destroyed	probably null	0.08
X0024:Olfr652	UTSW	7	104564250	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TGTTCTTGCTAAAACGACTGCC -3'
(R):5'- CCATAGATGACTGGGTTGATGGC -3'

Sequencing Primer
(F):5'- AAAACGACTGCCTTTCTGCCG -3'
(R):5'- ATGACTGGGTTGATGGCAGGAG -3'

Posted On

2014-06-30