Mutagenetix > Incidental Mutation

Incidental Mutation 'R9627:Or1q1'

725195

Institutional Source

Beutler Lab

Gene Symbol

Or1q1

Ensembl Gene

ENSMUSG00000055838

Gene Name

olfactory receptor family 1 subfamily Q member 1

Synonyms

GA_x6K02T2NLDC-33688556-33689482, MOR138-3, Olfr357

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R9627 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36886824-36887750 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36887665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 281 (V281E)

Ref Sequence

ENSEMBL: ENSMUSP00000149727 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069578] [ENSMUST00000213218] [ENSMUST00000216437]

AlphaFold

Q8VFP4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069578
AA Change: V281E

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000066272
Gene: ENSMUSG00000055838
AA Change: V281E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	3.6e-53	PFAM
Pfam:7tm_1	41	290	1.2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216437

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	T	2: 68,487,834 (GRCm39)		probably benign	Het
Abca14	T	C	7: 119,854,530 (GRCm39)	V898A	probably benign	Het
Adamtsl1	A	T	4: 86,306,762 (GRCm39)	D1400V	possibly damaging	Het
Akap6	T	A	12: 53,151,413 (GRCm39)	M1159K		Het
Atg13	C	A	2: 91,509,098 (GRCm39)	G446*	probably null	Het
Atp6v1g2	G	T	17: 35,454,956 (GRCm39)		probably null	Het
Bmp2k	C	T	5: 97,201,028 (GRCm39)	A316V	possibly damaging	Het
Ccdc34	AAGA	AA	2: 109,871,010 (GRCm39)		probably null	Het
Cfap251	A	G	5: 123,460,557 (GRCm39)	D1173G	probably benign	Het
Cln6	T	A	9: 62,754,303 (GRCm39)	I115N	probably damaging	Het
Cma1	T	C	14: 56,181,289 (GRCm39)	T39A	probably benign	Het
Cpsf1	A	T	15: 76,484,088 (GRCm39)	M744K	probably damaging	Het
Csf1r	A	G	18: 61,260,972 (GRCm39)	Y721C	probably damaging	Het
Dcaf12	A	G	4: 41,293,976 (GRCm39)	L387P	probably benign	Het
Ephb1	T	C	9: 101,918,468 (GRCm39)	E347G	possibly damaging	Het
Fig4	T	A	10: 41,108,178 (GRCm39)	H674L	probably benign	Het
Foxa3	T	A	7: 18,748,458 (GRCm39)	K223*	probably null	Het
Gimap7	T	C	6: 48,700,600 (GRCm39)	V62A	probably damaging	Het
Glrx3	T	A	7: 137,046,755 (GRCm39)	V49E	probably benign	Het
Greb1	T	C	12: 16,756,167 (GRCm39)	Y823C	probably damaging	Het
H3c7	G	T	13: 23,728,793 (GRCm39)	V47L	possibly damaging	Het
Hapln4	C	A	8: 70,539,520 (GRCm39)	R184S	possibly damaging	Het
Hmcn1	C	T	1: 150,506,054 (GRCm39)	C3824Y	probably damaging	Het
Hrnr	T	C	3: 93,233,235 (GRCm39)	S1158P	unknown	Het
Itln1	A	G	1: 171,360,985 (GRCm39)	S36P	probably benign	Het
Kcnh5	A	C	12: 75,160,990 (GRCm39)	I306S	probably damaging	Het
Kctd19	T	A	8: 106,113,997 (GRCm39)	M559L	probably benign	Het
Kif2a	A	G	13: 107,158,558 (GRCm39)	I9T	possibly damaging	Het
Klra5	G	A	6: 129,883,701 (GRCm39)	T142I	probably benign	Het
Ldlrad3	A	G	2: 101,785,423 (GRCm39)	V184A	probably damaging	Het
Lrrc27	T	C	7: 138,808,582 (GRCm39)		probably benign	Het
Mark1	A	G	1: 184,646,817 (GRCm39)	V340A	probably benign	Het
Mrps31	T	C	8: 22,901,558 (GRCm39)	V26A	probably benign	Het
Mtrr	G	A	13: 68,725,756 (GRCm39)	L118F	probably damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nbas	G	T	12: 13,350,203 (GRCm39)	V285F	possibly damaging	Het
Nfrkb	T	C	9: 31,321,189 (GRCm39)	L675P	possibly damaging	Het
Or10v9	T	A	19: 11,832,910 (GRCm39)	I136F	possibly damaging	Het
Or5k15	T	A	16: 58,709,771 (GRCm39)	I271L	probably benign	Het
Phkg1	C	T	5: 129,893,376 (GRCm39)	W358*	probably null	Het
Plekhj1	A	C	10: 80,633,494 (GRCm39)	I51S	possibly damaging	Het
Plxnd1	C	T	6: 115,940,274 (GRCm39)	R1370Q	possibly damaging	Het
Prkg2	T	C	5: 99,079,869 (GRCm39)	*763W	probably null	Het
Rhobtb2	A	G	14: 70,034,349 (GRCm39)	F292S	probably damaging	Het
Rlf	A	T	4: 121,007,002 (GRCm39)	C769*	probably null	Het
Rmi1	C	A	13: 58,557,366 (GRCm39)	D538E	possibly damaging	Het
Scn4a	C	T	11: 106,212,839 (GRCm39)	V1389I	probably benign	Het
Serpinc1	A	T	1: 160,821,101 (GRCm39)	K183*	probably null	Het
Setd4	A	T	16: 93,380,562 (GRCm39)	M399K	possibly damaging	Het
Setx	T	C	2: 29,034,661 (GRCm39)	M382T	probably damaging	Het
Slc6a9	A	G	4: 117,721,210 (GRCm39)	Y208C	probably damaging	Het
Slfn2	A	T	11: 82,960,367 (GRCm39)	K115N		Het
Snrk	A	T	9: 121,966,427 (GRCm39)	K117*	probably null	Het
Spata31	A	G	13: 65,065,409 (GRCm39)	Y38C	possibly damaging	Het
Stab2	T	C	10: 86,793,704 (GRCm39)	T464A	probably damaging	Het
Tagap1	C	T	17: 7,224,327 (GRCm39)	G123D	probably benign	Het
Tas2r136	T	C	6: 132,754,948 (GRCm39)	K60E	possibly damaging	Het
Tasor	T	C	14: 27,194,123 (GRCm39)	S1108P	probably benign	Het
Tmem200b	A	C	4: 131,649,437 (GRCm39)	Y119S	probably damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Wwp2	T	G	8: 108,278,959 (GRCm39)	L578W	probably damaging	Het
Zfp53	T	A	17: 21,728,745 (GRCm39)	C259*	probably null	Het

Other mutations in Or1q1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01561:Or1q1	APN	2	36,886,955 (GRCm39)	missense	probably benign
IGL02043:Or1q1	APN	2	36,887,477 (GRCm39)	nonsense	probably null
IGL02277:Or1q1	APN	2	36,887,196 (GRCm39)	splice site	probably null
IGL03037:Or1q1	APN	2	36,887,560 (GRCm39)	missense	probably benign	0.00
IGL03378:Or1q1	APN	2	36,886,915 (GRCm39)	missense	probably damaging	1.00
R0212:Or1q1	UTSW	2	36,887,644 (GRCm39)	missense	possibly damaging	0.92
R0212:Or1q1	UTSW	2	36,887,335 (GRCm39)	missense	probably damaging	0.98
R1334:Or1q1	UTSW	2	36,886,872 (GRCm39)	missense	probably benign	0.27
R1704:Or1q1	UTSW	2	36,886,896 (GRCm39)	missense	probably benign	0.34
R2020:Or1q1	UTSW	2	36,887,664 (GRCm39)	missense	possibly damaging	0.85
R2364:Or1q1	UTSW	2	36,887,577 (GRCm39)	missense	probably damaging	1.00
R4700:Or1q1	UTSW	2	36,887,515 (GRCm39)	missense	probably benign	0.01
R5105:Or1q1	UTSW	2	36,887,469 (GRCm39)	splice site	probably null
R5234:Or1q1	UTSW	2	36,887,107 (GRCm39)	missense	probably benign
R5557:Or1q1	UTSW	2	36,887,358 (GRCm39)	missense	probably damaging	1.00
R5966:Or1q1	UTSW	2	36,886,957 (GRCm39)	missense	possibly damaging	0.96
R6480:Or1q1	UTSW	2	36,887,007 (GRCm39)	missense	probably benign	0.00
R7046:Or1q1	UTSW	2	36,887,173 (GRCm39)	missense	probably benign	0.39
R7350:Or1q1	UTSW	2	36,886,873 (GRCm39)	missense	possibly damaging	0.84
R7583:Or1q1	UTSW	2	36,887,092 (GRCm39)	missense	probably damaging	1.00
R8128:Or1q1	UTSW	2	36,887,673 (GRCm39)	missense	probably benign	0.13
R8196:Or1q1	UTSW	2	36,886,873 (GRCm39)	missense	possibly damaging	0.84
R8475:Or1q1	UTSW	2	36,887,066 (GRCm39)	missense	probably damaging	0.99
R8867:Or1q1	UTSW	2	36,887,691 (GRCm39)	missense	probably damaging	1.00
R9550:Or1q1	UTSW	2	36,887,137 (GRCm39)	missense	probably damaging	1.00
R9716:Or1q1	UTSW	2	36,887,290 (GRCm39)	missense	probably damaging	0.98
Z1088:Or1q1	UTSW	2	36,887,717 (GRCm39)	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ATCATCTCAGCAGTCCTCCG -3'
(R):5'- AGTTGGATCTTGTGCACACTAAAC -3'

Sequencing Primer
(F):5'- GGATCCCCTCTGCCAATG -3'
(R):5'- TGGATTCTCTAGCCCAGGCATG -3'

Posted On

2022-09-12