Mutagenetix > Incidental Mutation

Incidental Mutation 'R0632:Olfr652'

59712

Institutional Source

Beutler Lab

Gene Symbol

Olfr652

Ensembl Gene

ENSMUSG00000073927

Gene Name

olfactory receptor 652

Synonyms

MOR31-8, GA_x6K02T2PBJ9-7191524-7192471

MMRRC Submission

038821-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R0632 (G1)

Quality Score

163

Status

Validated

Chromosome

Chromosomal Location

104560901-104568634 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104564337 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 39 (I39V)

Ref Sequence

ENSEMBL: ENSMUSP00000152027 (fasta)

Gene Model

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

AlphaFold

B9EHE6

Predicted Effect

probably benign
Transcript: ENSMUST00000098175
AA Change: I39V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000095777
Gene: ENSMUSG00000073927
AA Change: I39V

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

probably benign
Transcript: ENSMUST00000215410
AA Change: I39V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000216131
AA Change: I39V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000219111
AA Change: I39V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Meta Mutation Damage Score

0.1483

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

95% (81/85)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730559C18Rik	T	C	1: 136,227,618	D83G	probably benign	Het
Acaa1a	T	A	9: 119,347,818		probably benign	Het
Adgrg7	T	A	16: 56,742,589	T462S	possibly damaging	Het
Akap6	A	T	12: 52,937,148	N825I	probably damaging	Het
Ankib1	T	A	5: 3,772,529	N59I	probably benign	Het
Anks6	T	C	4: 47,033,167	S633G	possibly damaging	Het
Ap4e1	C	A	2: 127,049,280	Y522*	probably null	Het
Art5	G	A	7: 102,097,957	T205I	probably damaging	Het
Ascc2	T	A	11: 4,649,855	L176H	probably damaging	Het
Atp13a5	T	C	16: 29,298,208	D529G	probably benign	Het
C2cd4a	T	C	9: 67,831,563	E66G	probably benign	Het
C8a	T	C	4: 104,856,492	D147G	probably damaging	Het
Ccdc109b	T	C	3: 129,918,726	M167V	probably benign	Het
Ccdc14	T	C	16: 34,721,649	V532A	possibly damaging	Het
Ccdc88a	T	A	11: 29,482,749		probably benign	Het
Cfap54	C	T	10: 92,885,096	E2543K	unknown	Het
Cldn13	C	T	5: 134,914,747	E195K	probably benign	Het
Cp	A	G	3: 19,971,082	S402G	probably null	Het
Cpa3	T	C	3: 20,225,194	T194A	probably benign	Het
Crygf	C	A	1: 65,927,997	Y93*	probably null	Het
Ctsh	A	G	9: 90,061,582	R87G	possibly damaging	Het
Cyp2t4	A	G	7: 27,158,246	D428G	possibly damaging	Het
Dnah17	C	G	11: 118,067,682		probably benign	Het
Dnah3	A	G	7: 119,967,905	V2366A	probably benign	Het
Dscaml1	A	T	9: 45,732,134	I1284F	probably benign	Het
Dsg1c	T	C	18: 20,272,346		probably benign	Het
Dst	G	T	1: 34,271,413	R4098L	probably damaging	Het
Efhb	A	G	17: 53,413,459		probably benign	Het
Epha7	A	T	4: 28,821,104	I90F	probably damaging	Het
Fam171a2	T	A	11: 102,437,881	D684V	probably damaging	Het
Fan1	A	G	7: 64,363,199	V665A	possibly damaging	Het
Fbn2	A	G	18: 58,037,747	C2191R	probably damaging	Het
Fkbp3	G	A	12: 65,073,918	A2V	probably benign	Het
G6pd2	A	G	5: 61,810,171	N430D	probably benign	Het
Gm13119	G	A	4: 144,363,782	C464Y	probably damaging	Het
Gm13547	T	A	2: 29,761,584	D7E	possibly damaging	Het
Hdac5	A	T	11: 102,205,812	D260E	probably damaging	Het
Hist1h4i	G	T	13: 22,041,027	Y99*	probably null	Het
Hsf2bp	T	C	17: 32,013,346	E142G	probably damaging	Het
Igf1r	C	T	7: 68,165,155	T268I	probably damaging	Het
Kcne3	C	T	7: 100,184,439	R88C	probably damaging	Het
Klk1b9	G	T	7: 43,979,372	G100V	possibly damaging	Het
Kmt2d	G	A	15: 98,853,581		probably benign	Het
Lama1	C	T	17: 67,752,368		probably benign	Het
Lcp2	C	T	11: 34,082,426	P335S	possibly damaging	Het
Lrrk2	T	A	15: 91,796,028	N2047K	probably damaging	Het
Mia2	T	C	12: 59,136,143	L36P	probably damaging	Het
Mmp13	G	A	9: 7,274,032	G169R	probably damaging	Het
Mmp13	A	T	9: 7,282,077	I460F	possibly damaging	Het
Msh4	A	G	3: 153,896,895	I232T	probably damaging	Het
Msra	T	A	14: 64,210,532	M145L	probably benign	Het
Myo7a	A	T	7: 98,112,150		probably benign	Het
Nme8	A	T	13: 19,658,036	N422K	probably damaging	Het
Nol6	A	T	4: 41,121,115	F353I	probably damaging	Het
Nphp3	A	G	9: 104,018,274	K384E	probably damaging	Het
Olfr572	C	T	7: 102,928,604		probably null	Het
Olfr672	A	G	7: 104,996,703	I67T	probably benign	Het
Phox2b	T	G	5: 67,096,214		probably benign	Het
Plec	A	T	15: 76,173,411	S4131T	probably damaging	Het
Pptc7	G	A	5: 122,313,591		probably benign	Het
Prpf40b	A	G	15: 99,316,289	E810G	probably benign	Het
Ptprc	C	T	1: 138,073,610	V965I	probably benign	Het
Pum1	T	A	4: 130,728,104	M180K	probably benign	Het
Ranbp3	T	C	17: 56,702,896		probably benign	Het
Rasgrf2	A	G	13: 91,972,274	S787P	probably benign	Het
Rnf19b	T	A	4: 129,073,551	N294K	probably damaging	Het
Samd3	A	T	10: 26,244,495	H156L	possibly damaging	Het
Serpinb6c	C	T	13: 33,880,031	R347Q	possibly damaging	Het
Slc36a3	A	G	11: 55,125,080	I416T	probably damaging	Het
Slc4a4	T	A	5: 89,129,641	F279Y	probably damaging	Het
Slc6a2	T	A	8: 92,992,801		probably benign	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Tab2	A	G	10: 7,919,801	S232P	probably benign	Het
Tacc2	A	T	7: 130,625,595	K1356*	probably null	Het
Tmem87a	A	G	2: 120,359,542	S544P	probably damaging	Het
Trim52	T	A	14: 106,106,967	C20S	probably damaging	Het
Usp38	A	T	8: 81,014,150	V96E	probably benign	Het
Vmn2r59	T	C	7: 42,058,884	Y33C	probably damaging	Het
Vsig10l	T	G	7: 43,464,137	V171G	probably damaging	Het
Zfp957	T	A	14: 79,212,920	I480F	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
R1457:Olfr652	UTSW	7	104565071	missense	probably damaging	1.00
R1494:Olfr652	UTSW	7	104564831	nonsense	probably null
R1879:Olfr652	UTSW	7	104564911	missense	possibly damaging	0.93
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
R8475:Olfr652	UTSW	7	104564859	missense	probably benign
R8875:Olfr652	UTSW	7	104564463	missense	probably benign	0.00
R8881:Olfr652	UTSW	7	104564412	missense	possibly damaging	0.58
R8927:Olfr652	UTSW	7	104565022	missense	probably damaging	1.00
R8928:Olfr652	UTSW	7	104565022	missense	probably damaging	1.00
X0024:Olfr652	UTSW	7	104564250	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GCTGGACCACTGTAACTATCATGCC -3'
(R):5'- GCTCCTGCTGATAATTGCCACCAC -3'

Sequencing Primer
(F):5'- GACCACTGTAACTATCATGCCATTTC -3'
(R):5'- CATCCAGGAAATGTGATATGCTG -3'

Posted On

2013-07-11