Mutagenetix > Incidental Mutation

Incidental Mutation 'R6508:Or10q1'

524051

Institutional Source

Beutler Lab

Gene Symbol

Or10q1

Ensembl Gene

ENSMUSG00000050865

Gene Name

olfactory receptor family 10 subfamily Q member 1

Synonyms

MOR266-1, Olfr1494, GA_x6K02T2RE5P-4082427-4083374

MMRRC Submission

044638-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R6508 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13726472-13727419 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 13726718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 83 (P83S)

Ref Sequence

ENSEMBL: ENSMUSP00000146563 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051768] [ENSMUST00000207836]

AlphaFold

Q8VGP8

Predicted Effect

probably damaging
Transcript: ENSMUST00000051768
AA Change: P83S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000056291
Gene: ENSMUSG00000050865
AA Change: P83S

Domain	Start	End	E-Value	Type
low complexity region	13	27	N/A	INTRINSIC
Pfam:7tm_4	35	313	3.2e-53	PFAM
Pfam:7tm_1	45	295	7.5e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000207836
AA Change: P83S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214479

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214697

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	G	A	4: 144,291,590 (GRCm39)	R39*	probably null	Het
Brca2	A	T	5: 150,460,058 (GRCm39)	E444D	possibly damaging	Het
Camkk2	G	T	5: 122,884,382 (GRCm39)	N346K	probably damaging	Het
Car4	C	A	11: 84,856,469 (GRCm39)	D252E	possibly damaging	Het
Chd1	A	G	17: 15,958,895 (GRCm39)	K649R	probably benign	Het
Col12a1	A	G	9: 79,557,231 (GRCm39)	Y1966H	probably damaging	Het
Crppa	C	T	12: 36,476,298 (GRCm39)	A180V	possibly damaging	Het
Cts6	T	A	13: 61,344,221 (GRCm39)	H277L	probably damaging	Het
Dcc	G	T	18: 71,439,144 (GRCm39)	P1246Q	probably damaging	Het
Dlg5	G	A	14: 24,188,774 (GRCm39)	T1739I	probably benign	Het
Eci1	T	A	17: 24,656,283 (GRCm39)	N164K	probably damaging	Het
Entpd7	G	A	19: 43,679,525 (GRCm39)	R26H	probably damaging	Het
Fanci	A	G	7: 79,093,516 (GRCm39)	K1008E	probably damaging	Het
Htr2b	T	C	1: 86,030,186 (GRCm39)	T170A	possibly damaging	Het
Irgm2	A	G	11: 58,110,327 (GRCm39)	E18G	probably benign	Het
Kdm1a	A	T	4: 136,281,621 (GRCm39)	V630E	probably damaging	Het
Keap1	G	A	9: 21,143,010 (GRCm39)	T501I	possibly damaging	Het
L3mbtl3	T	A	10: 26,194,325 (GRCm39)	H424L	unknown	Het
Lrrc14b	C	T	13: 74,511,337 (GRCm39)	D248N	possibly damaging	Het
Macf1	T	A	4: 123,363,535 (GRCm39)	D3364V	probably damaging	Het
Map3k20	G	A	2: 72,272,253 (GRCm39)	G794S	probably benign	Het
Mcat	T	C	15: 83,433,452 (GRCm39)	Q34R	probably benign	Het
Mettl4	T	C	17: 95,051,373 (GRCm39)	E148G	probably damaging	Het
Mgat3	T	C	15: 80,096,225 (GRCm39)	S351P	possibly damaging	Het
Mllt1	A	T	17: 57,234,054 (GRCm39)	I44N	probably damaging	Het
Mlxipl	G	T	5: 135,157,474 (GRCm39)	A337S	probably benign	Het
Naip1	A	G	13: 100,572,973 (GRCm39)	F254L	probably damaging	Het
Obscn	A	T	11: 58,944,973 (GRCm39)		probably null	Het
Pcdh12	G	A	18: 38,414,390 (GRCm39)	R912*	probably null	Het
Pcdh17	A	G	14: 84,685,419 (GRCm39)	N629D	probably damaging	Het
Pcnx1	T	C	12: 81,959,479 (GRCm39)	I170T	probably damaging	Het
Pgr	A	G	9: 8,956,290 (GRCm39)	Y746C	probably damaging	Het
Pramel29	A	T	4: 143,934,171 (GRCm39)	L312*	probably null	Het
Pum2	T	C	12: 8,798,861 (GRCm39)	Y991H	probably benign	Het
Rcc1l	A	T	5: 134,198,077 (GRCm39)	V185D	probably damaging	Het
Scarb1	A	T	5: 125,381,389 (GRCm39)	S52T	possibly damaging	Het
Smc1b	C	T	15: 84,976,232 (GRCm39)	R825Q	probably benign	Het
Spata4	T	C	8: 55,053,887 (GRCm39)	S18P	probably benign	Het
Stard13	G	A	5: 150,986,754 (GRCm39)	T134I	probably benign	Het
Tbc1d32	C	T	10: 56,100,786 (GRCm39)	C64Y	probably damaging	Het
Tll1	T	G	8: 64,551,494 (GRCm39)	I296L	probably damaging	Het
Tmem229b	T	G	12: 79,011,680 (GRCm39)	T84P	probably damaging	Het
Ttn	T	C	2: 76,544,757 (GRCm39)	T32782A	possibly damaging	Het
Vmn1r73	G	A	7: 11,490,631 (GRCm39)	V150I	possibly damaging	Het
Vmn2r80	T	A	10: 79,030,290 (GRCm39)	F705L	probably benign	Het

Other mutations in Or10q1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02134:Or10q1	APN	19	13,727,165 (GRCm39)	missense	probably benign	0.04
IGL02335:Or10q1	APN	19	13,727,298 (GRCm39)	missense	probably benign	0.01
IGL02388:Or10q1	APN	19	13,726,994 (GRCm39)	missense	possibly damaging	0.91
IGL03231:Or10q1	APN	19	13,726,749 (GRCm39)	missense	probably benign	0.35
R0133:Or10q1	UTSW	19	13,727,352 (GRCm39)	missense	probably damaging	1.00
R0142:Or10q1	UTSW	19	13,726,619 (GRCm39)	missense	probably benign	0.00
R0561:Or10q1	UTSW	19	13,726,662 (GRCm39)	missense	probably damaging	1.00
R0783:Or10q1	UTSW	19	13,727,040 (GRCm39)	missense	probably damaging	0.99
R1826:Or10q1	UTSW	19	13,726,711 (GRCm39)	missense	probably benign	0.05
R1967:Or10q1	UTSW	19	13,727,417 (GRCm39)	makesense	probably null
R3706:Or10q1	UTSW	19	13,726,476 (GRCm39)	missense	probably benign	0.42
R5417:Or10q1	UTSW	19	13,727,217 (GRCm39)	missense	probably benign	0.18
R7126:Or10q1	UTSW	19	13,726,887 (GRCm39)	missense	possibly damaging	0.90
R7262:Or10q1	UTSW	19	13,726,535 (GRCm39)	missense	probably benign	0.02
R7395:Or10q1	UTSW	19	13,726,502 (GRCm39)	missense	probably damaging	0.98
R7740:Or10q1	UTSW	19	13,727,328 (GRCm39)	missense	probably benign	0.00
R7744:Or10q1	UTSW	19	13,727,419 (GRCm39)	makesense	probably null
R7864:Or10q1	UTSW	19	13,726,710 (GRCm39)	missense	probably benign	0.03
R8495:Or10q1	UTSW	19	13,726,593 (GRCm39)	missense	possibly damaging	0.95
R9372:Or10q1	UTSW	19	13,727,069 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- ACCACTGAGTTTGTGTTCCG -3'
(R):5'- TCTGGACACACAGCTTCTTGG -3'

Sequencing Primer
(F):5'- ACCACTGTCCCTGAATTCCAG -3'
(R):5'- CACACAGCTTCTTGGTCATGATGAG -3'

Posted On

2018-06-22