Mutagenetix > Incidental Mutation

Incidental Mutation 'R6365:Olfr630'

512637

Institutional Source

Beutler Lab

Gene Symbol

Olfr630

Ensembl Gene

ENSMUSG00000050281

Gene Name

olfactory receptor 630

Synonyms

MOR17-1, GA_x6K02T2PBJ9-6483085-6482126

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R6365 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103753480-103757333 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103755195 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 130 (H130L)

Ref Sequence

ENSEMBL: ENSMUSP00000102493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106880]

AlphaFold

Q9EQQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000106880
AA Change: H130L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000102493
Gene: ENSMUSG00000050281
AA Change: H130L

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	37	305	3.7e-8	PFAM
Pfam:7tm_1	43	294	8.4e-25	PFAM
Pfam:7tm_4	144	287	9e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217072

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.8%

Validation Efficiency

98% (57/58)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	G	T	5: 113,182,644	R1235S	probably benign	Het
Abca9	T	A	11: 110,145,655	I543F	possibly damaging	Het
Acot6	A	G	12: 84,109,412	E378G	probably benign	Het
Adam30	T	C	3: 98,161,034	L61S	probably damaging	Het
Agap3	T	A	5: 24,474,985	L227Q	probably benign	Het
Ap5m1	T	C	14: 49,078,828	I285T	probably benign	Het
Atp2a2	A	G	5: 122,461,916	Y497H	probably benign	Het
Bace1	C	T	9: 45,854,676	Q17*	probably null	Het
Calcr	T	C	6: 3,711,455	I189V	probably benign	Het
Cd48	A	T	1: 171,682,164	Q24L	probably null	Het
Cnga1	T	C	5: 72,604,945	I409V	probably benign	Het
Ctsd	G	A	7: 142,385,577	T37M	probably benign	Het
Cyp2c29	T	C	19: 39,307,754	S171P	probably damaging	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Drd2	A	T	9: 49,406,949	N397I	probably damaging	Het
Dst	A	G	1: 34,191,927	E3045G	probably damaging	Het
Dzip3	T	A	16: 48,931,273	R764S	probably damaging	Het
Exosc10	T	C	4: 148,561,105	V114A	probably benign	Het
Fam234a	C	A	17: 26,220,455	E32*	probably null	Het
Fbxw11	C	A	11: 32,720,623	D162E	possibly damaging	Het
Fcho2	A	T	13: 98,789,859	M72K	probably benign	Het
Fech	T	C	18: 64,458,180	N391S	probably benign	Het
Foxp2	T	C	6: 15,286,685	L58P	probably damaging	Het
Gdi2	A	G	13: 3,565,093	D430G	possibly damaging	Het
Gm11639	A	G	11: 104,924,586	E3247G	unknown	Het
Grm8	C	T	6: 27,363,227	C763Y	probably damaging	Het
Hibch	T	A	1: 52,868,937		probably null	Het
Hist1h2be	C	T	13: 23,585,658	R100H	probably benign	Het
Ifi44l	C	T	3: 151,761,505	V63I	unknown	Het
Igf1r	G	T	7: 68,190,050	A702S	probably benign	Het
Kctd13	G	A	7: 126,930,690	R101Q	probably damaging	Het
Klhl33	T	C	14: 50,891,837	D645G	probably benign	Het
Lrrc6	A	T	15: 66,454,134	S197R	probably benign	Het
Mylk	A	G	16: 34,860,591	T74A	probably benign	Het
Myo1f	A	G	17: 33,586,116	S453G	probably benign	Het
Naxe	A	G	3: 88,057,991	V105A	probably damaging	Het
Nid2	A	G	14: 19,803,133	Y1140C	probably damaging	Het
Nlrp12	T	C	7: 3,239,888	T665A	probably benign	Het
Otud7b	T	G	3: 96,155,250	I602S	probably benign	Het
Palm2	G	T	4: 57,709,675	G207*	probably null	Het
Papolg	T	C	11: 23,882,290	D166G	probably damaging	Het
Pbx4	T	G	8: 69,872,207		probably null	Het
Pdcd4	T	C	19: 53,922,133		probably null	Het
Pde2a	C	T	7: 101,510,363	T800I	probably damaging	Het
Polk	A	T	13: 96,484,009	V582E	probably damaging	Het
Prss40	A	G	1: 34,552,517		probably benign	Het
Robo4	G	T	9: 37,410,712	R597L	probably benign	Het
Scg2	T	A	1: 79,435,300	I529F	probably benign	Het
Sema7a	T	C	9: 57,954,905	F180L	probably benign	Het
Sowahc	T	C	10: 59,223,527	L495P	probably damaging	Het
Trf	A	G	9: 103,222,128	V324A	possibly damaging	Het
Uox	C	T	3: 146,624,577	R163*	probably null	Het
Vip	C	T	10: 5,644,021	R125*	probably null	Het
Vmn1r159	T	A	7: 22,843,401	T69S	probably damaging	Het
Vmn1r202	A	T	13: 22,502,204	F14L	probably benign	Het
Vmn1r53	T	C	6: 90,224,259	N28D	probably damaging	Het
Vmn2r58	T	A	7: 41,864,183	K345N	probably benign	Het
Zbtb17	G	A	4: 141,463,383	G171S	probably benign	Het
Zbtb8os	A	T	4: 129,343,152	N120I	possibly damaging	Het
Zfp959	T	A	17: 55,897,785	L274H	probably damaging	Het

Other mutations in Olfr630

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00896:Olfr630	APN	7	103755006	missense	probably damaging	1.00
IGL01111:Olfr630	APN	7	103755373	missense	probably benign	0.07
IGL02456:Olfr630	APN	7	103755493	missense	possibly damaging	0.94
IGL03173:Olfr630	APN	7	103754976	missense	probably benign	0.00
R1104:Olfr630	UTSW	7	103754976	missense	probably benign	0.00
R1507:Olfr630	UTSW	7	103755021	missense	probably benign	0.00
R1695:Olfr630	UTSW	7	103754924	nonsense	probably null
R1966:Olfr630	UTSW	7	103755168	missense	probably damaging	1.00
R1971:Olfr630	UTSW	7	103755320	nonsense	probably null
R2696:Olfr630	UTSW	7	103755528	missense	probably damaging	0.96
R4943:Olfr630	UTSW	7	103755296	missense	probably benign	0.12
R5622:Olfr630	UTSW	7	103755169	missense	probably damaging	0.99
R7592:Olfr630	UTSW	7	103755072	missense	probably damaging	1.00
R8146:Olfr630	UTSW	7	103755303	missense	probably damaging	1.00
R8283:Olfr630	UTSW	7	103754812	missense	possibly damaging	0.51
R8867:Olfr630	UTSW	7	103754686	nonsense	probably null
R8875:Olfr630	UTSW	7	103755255	missense	probably damaging	1.00
R9658:Olfr630	UTSW	7	103754821	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACAAGCCAGGCGAATCATGTC -3'
(R):5'- ACGAGCCCATGTATTACTTCCTG -3'

Sequencing Primer
(F):5'- GAATCATGTCCTGGTGCAAAC -3'
(R):5'- TCACTCACTGACATGGCCATG -3'

Posted On

2018-04-27